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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Name	i_CGC_OtherGermlineMut	i_CGC_TissueType	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_AccessionNumbers	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_EnzymeIDs	i_HGNC_Genefamilydescription	i_HGNC_HGNCID	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_NameSynonyms	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_PrimaryIDs	i_HGNC_PubmedIDs	i_HGNC_RecordType	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_SecondaryIDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGAIDs	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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos1coor	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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
TBX15	6913	genome.wustl.edu	37	1	119469161	119469161	+	Missense_Mutation	SNP	T	T	A	rs200689686		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr1:119469161T>A	ENST00000369429.3	-	3	502	c.493A>T	c.(493-495)Att>Ttt	p.I165F	TBX15_ENST00000207157.3_Missense_Mutation_p.I59F			Q96SF7	TBX15_HUMAN	T-box 15	165					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		ACAGGCACAATGTCCATTGCT	0.408																																						dbGAP											0			1											174	143	154					1																	119469161		2203	4300	6503	119270684	SO:0001583	missense	0			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"T-boxes"	11594	protein-coding gene	gene with protein product		604127	"T-box 14"	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.493A>T	1.37:g.119469161T>A	ENSP00000358437:p.Ile165Phe	468	1.47	7					119270684	120	30.68	54	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1	p.I59F	ENST00000369429.3	37	c.175		1	.	.	.	.	.	.	.	.	.	.	T	31	5.101828	0.94245	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	T;T	0.79845	-1.31;-1.31	5.92	5.92	0.95590	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.81721	0.4882	L	0.39085	1.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82220	-0.0565	10	0.40728	T	0.16	.	16.0339	0.80608	0.0:0.0:0.0:1.0	.	165	Q96SF7	TBX15_HUMAN	F	59;165	ENSP00000207157:I59F;ENSP00000358437:I165F	ENSP00000207157:I59F	I	-	1	0	TBX15	119270684	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.300000	0.72776	2.260000	0.74910	0.528000	0.53228	ATT	-	HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd		0.408	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	protein_coding	OTTHUMT00000034351.1	T	NM_152380		119270684	-1	no_errors	NM_152380.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	119469161	T	A	119469161	3	1	1	1	0	0	0	0	1	0	0	0	15649	1464	51	5	1339	5	TBX15	1	119469161	Missense_Mutation	SNP	T	TCGA-AB-2802-03B-01W-0728-08		119469161	129781460	1	1											
TCHHL1	126637	genome.wustl.edu	37	1	152057522	152057522	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr1:152057522T>C	ENST00000368806.1	-	3	2700	c.2636A>G	c.(2635-2637)cAg>cGg	p.Q879R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	879							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCCAAGGCCTGGGGAGCTGG	0.488																																						dbGAP											0			1											151	147	148					1																	152057522		2203	4300	6503	150324146	SO:0001583	missense	0				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"S100 calcium binding proteins"	31796	protein-coding gene	gene with protein product			"S100 calcium binding protein A17"	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2636A>G	1.37:g.152057522T>C	ENSP00000357796:p.Gln879Arg	743	0.54	4					150324146	142	35.14	78	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	PatternScan_S100_CABP,HMMPfam_S_100,superfamily_SSF47473	p.Q879R	ENST00000368806.1	37	c.2636	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	13.99	2.401738	0.42613	.	.	ENSG00000182898	ENST00000368806	T	0.31510	1.49	4.56	3.39	0.38822	.	0.787419	0.10058	U	0.721265	T	0.20414	0.0491	L	0.34521	1.04	0.09310	N	1	D	0.76494	0.999	D	0.66084	0.941	T	0.10291	-1.0636	10	0.21540	T	0.41	-0.4624	7.0714	0.25181	0.0:0.1079:0.0:0.8921	.	879	Q5QJ38	TCHL1_HUMAN	R	879	ENSP00000357796:Q879R	ENSP00000357796:Q879R	Q	-	2	0	TCHHL1	150324146	0.004000	0.15560	0.089000	0.20774	0.089000	0.18198	0.506000	0.22658	0.579000	0.29504	0.482000	0.46254	CAG	-	NULL		0.488	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	T	XM_060104		150324146	-1	no_errors	NM_001008536.1	genbank	human	provisional	54_36p	missense	SNP	0.075	C	C	152057522	T	C	152057522	3	2	1	1	0	0	0	0	1	0	0	0	15698	1580	55	3	82	3	TCHHL1	1	152057522	Missense_Mutation	SNP	T	TCGA-AB-2802-03B-01W-0728-08	32588361	152057522	97193099	2	2											
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55	50	52		2644,2077,2644	5.7	1	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	152	0	0					25310747	42	28.33	17	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25457243	G	A	25457243	3	1	1	1	0	0	0	0	1	0	0	0	4676	1116	39	1	98	1	DNMT3A	2	25457243	Missense_Mutation	SNP	G	TCGA-AB-2802-03B-01W-0728-08		25457243	217742130	3	3											
IDH1	3417	genome.wustl.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	2											79	73	75					2																	209113112		2203	4300	6503	208821357	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His	71	0	0					208821357	55	41.05	39	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132H	ENST00000415913.1	37	c.395	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	C			208821357	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	209113112	C	T	209113112	3	4	1	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-AB-2802-03B-01W-0728-08	183655869	209113112	34086261	4	4											
GRM7	2917	genome.wustl.edu	37	3	7503316	7503316	+	Silent	SNP	T	T	A	rs147301131		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr3:7503316T>A	ENST00000357716.4	+	7	1696	c.1422T>A	c.(1420-1422)ccT>ccA	p.P474P	GRM7_ENST00000402647.2_Silent_p.P474P|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000486284.1_Silent_p.P474P|GRM7_ENST00000403881.1_Silent_p.P474P|GRM7_ENST00000389336.4_Silent_p.P474P	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	474					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GGGATGCACCTGGGCGTTATG	0.448																																						dbGAP											0			3											172	155	160					3																	7503316		2203	4300	6503	7478316	SO:0001819	synonymous_variant	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4599	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 87"	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.1422T>A	3.37:g.7503316T>A		672	1.46	10					7478316	155	24.88	52	Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822	p.P474	ENST00000357716.4	37	c.1422	CCDS43042.1	3																																																																																			-	HMMPfam_ANF_receptor,superfamily_SSF53822		0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	protein_coding	OTTHUMT00000246895.3	T	NM_000844		7478316	1	no_errors	NM_181874.2	genbank	human	reviewed	54_36p	silent	SNP	0.995	A	A	7503316	T	A	7503316	2	1	1	1	0	0	0	0	0	0	0	1	6802	1567	55	5		5	GRM7	3	7503316	Silent	SNP	T	TCGA-AB-2802-03B-01W-0728-08		7503316	190519114	5	5											
NPM1	4869	genome.wustl.edu	37	5	170834736	170834737	+	Frame_Shift_Ins	INS	-	-	GAGGAGG			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	-	-	-	GAGGAGG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr5:170834736_170834737insGAGGAGG	ENST00000296930.5	+	10	1105_1106	c.804_805insGAGGAGG	c.(805-807)atcfs	p.I269fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.I240fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.I269fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	269	Required for nucleolar localization.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.I269fs*7(3)|p.I269fs*13(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGCCAAATTCATCAATTATGT	0.351			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	4	Insertion - Frameshift(4)	haematopoietic_and_lymphoid_tissue(4)	5																																								170767342	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170834736_170834737insGAGGAGG	ENSP00000296930:p.Ile269fs								170767341				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.I268fs	ENST00000296930.5	37	c.804_805	CCDS4376.1	5																																																																																			-	NULL		0.351	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170767342	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.998:1.000	GAGGAGG	GAGGAGG	170834737	-	GAGGAGG	170834736	7	5	1	1	0	1	1	0	0	0	0	0	10587	825	29	0	855	0	NPM1	5	170834736	Frame_Shift_Ins	INS	-	TCGA-AB-2802-03B-01W-0728-08		170834736	10080524	6	6	1	2									
NPM1	4869	genome.wustl.edu	37	5	170834737	170834738	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr5:170834737_170834738insT	ENST00000296930.5	+	10	1106_1107	c.805_806insT	c.(805-807)atcfs	p.I269fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.I240fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.I269fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	269	Required for nucleolar localization.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.I269fs*7(4)|p.I269fs*13(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGCCAAATTCATCAATTATGTG	0.356			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	5	Insertion - Frameshift(4)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(5)	5																																								170767343	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.806dupT	5.37:g.170834738_170834738dupT	ENSP00000296930:p.Ile269fs	163	0	0					170767342	49	0	0	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.N270fs	ENST00000296930.5	37	c.805_806	CCDS4376.1	5																																																																																			-	NULL		0.356	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170767343	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	T	T	170834738	-	T	170834737	7	5	1	1	0	1	1	0	0	0	0	0	10587	217	8	0	856	0	NPM1	5	170834737	Frame_Shift_Ins	INS	-	TCGA-AB-2802-03B-01W-0728-08	1	170834737	10080523	7	7	1	2									
ANKRD30A	91074	genome.wustl.edu	37	10	37455582	37455582	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr10:37455582C>T	ENST00000374660.1	+	19	2045	c.1946C>T	c.(1945-1947)gCg>gTg	p.A649V	ANKRD30A_ENST00000602533.1_Intron|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A649V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	586					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCCAAGGCTGCGCATCAAAAA	0.303																																						dbGAP											0			10											3	3	3					10																	37455582		1391	3132	4523	37495588	SO:0001583	missense	0			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"Ankyrin repeat domain containing"	17234	protein-coding gene	gene with protein product	"breast cancer antigen NY-BR-1"	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.1946C>T	10.37:g.37455582C>T	ENSP00000363792:p.Ala649Val	69	0	0					37495588	25	42.22	19	Q5W025	Missense_Mutation	SNP	PatternScan_ASP_PROTEASE,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.A649V	ENST00000374660.1	37	c.1946		10	.	.	.	.	.	.	.	.	.	.	.	6.215	0.407757	0.11754	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.04654	3.58;3.58	0.8	-0.265	0.12946	.	.	.	.	.	T	0.02455	0.0075	L	0.34521	1.04	0.09310	N	1	P	0.34587	0.458	B	0.22880	0.042	T	0.43988	-0.9357	9	0.09843	T	0.71	.	3.1703	0.06550	0.0:0.6545:0.0:0.3455	.	705	Q9BXX3	AN30A_HUMAN	V	649	ENSP00000354432:A649V;ENSP00000363792:A649V	ENSP00000354432:A649V	A	+	2	0	ANKRD30A	37495588	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.185000	0.16958	-0.082000	0.12640	0.384000	0.25694	GCG	-	NULL		0.303	ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	ANKRD30A	protein_coding	OTTHUMT00000047589.2	C	NM_052997		37495588	1	no_errors	NM_052997.2	genbank	human	validated	54_36p	missense	SNP	0.010	T	T	37455582	C	T	37455582	3	4	1	1	0	0	0	0	1	0	0	0	658	768	27	1	2020	1	ANKRD30A	10	37455582	Missense_Mutation	SNP	C	TCGA-AB-2802-03B-01W-0728-08		37455582	98079165	8	8											
KRT74	121391	genome.wustl.edu	37	12	52964548	52964548	+	Silent	SNP	G	G	A			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr12:52964548G>A	ENST00000305620.2	-	5	960	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	KRT74_ENST00000549343.1_Silent_p.L305L	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	305	Linker 12.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TCAAGGTCCAGGTCCCGGTTG	0.562																																						dbGAP											0			12											127	96	107					12																	52964548		2203	4300	6503	51250815	SO:0001819	synonymous_variant	0			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"-", "Intermediate filaments type II, keratins (basic)"	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.913C>T	12.37:g.52964548G>A		249	1.58	4					51250815	60	27.71	23	B5MD61|Q86Y45	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.L305	ENST00000305620.2	37	c.913	CCDS8832.1	12																																																																																			-	HMMPfam_Filament		0.562	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT74	protein_coding	OTTHUMT00000405324.1	G	NM_175053		51250815	-1	no_errors	NM_175053.3	genbank	human	validated	54_36p	silent	SNP	0.958	A	A	52964548	G	A	52964548	2	1	1	1	0	0	0	0	0	0	0	1	8487	991	35	2		2	KRT74	12	52964548	Silent	SNP	G	TCGA-AB-2802-03B-01W-0728-08		52964548	80887347	9	9											
PTPN11	5781	genome.wustl.edu	37	12	112888165	112888165	+	Missense_Mutation	SNP	G	G	A	rs397507508|rs397507510		TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr12:112888165G>A	ENST00000351677.2	+	3	379	c.181G>A	c.(181-183)Gat>Aat	p.D61N	PTPN11_ENST00000392597.1_Missense_Mutation_p.D61N	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	61	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		D -> G (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870}.|D -> N (in NS1). {ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12634870}.|D -> V (in JMML; also in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.|D -> Y (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.D61Y(29)|p.D61H(3)|p.D61N(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAACACTGGTGATTACTATGA	0.423			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	34	Substitution - Missense(34)	haematopoietic_and_lymphoid_tissue(34)	12	GRCh37	CD055729|CM021127	PTPN11	D|M							143	134	137					12																	112888165		2203	4300	6503	111372548	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.181G>A	12.37:g.112888165G>A	ENSP00000340944:p.Asp61Asn	423	0	0					111372548	51	31.08	23	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.D61N	ENST00000351677.2	37	c.181	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.845003	0.97016	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96300	-3.97;-3.97	5.9	5.9	0.94986	.	0.046067	0.85682	D	0.000000	D	0.97090	0.9049	L	0.39020	1.185	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.75484	0.976;0.986	D	0.97277	0.9915	10	0.56958	D	0.05	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	61;61	Q06124-2;Q06124-3	.;.	N	61	ENSP00000376376:D61N;ENSP00000340944:D61N	ENSP00000340944:D61N	D	+	1	0	PTPN11	111372548	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.860000	0.99555	2.798000	0.96311	0.650000	0.86243	GAT	-	HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain		0.423	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	G			111372548	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	112888165	G	A	112888165	3	1	1	1	0	0	0	0	1	0	0	0	12780	1290	45	2	191	2	PTPN11	12	112888165	Missense_Mutation	SNP	G	TCGA-AB-2802-03B-01W-0728-08	59923617	112888165	20963730	10	10											
EP400	57634	genome.wustl.edu	37	12	132466885	132466885	+	Silent	SNP	G	G	A			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr12:132466885G>A	ENST00000333577.4	+	6	2008	c.1899G>A	c.(1897-1899)caG>caA	p.Q633Q	EP400_ENST00000330386.6_Silent_p.Q597Q|EP400_ENST00000389561.2_Silent_p.Q597Q|EP400_ENST00000332482.4_Silent_p.Q560Q|EP400_ENST00000389562.2_Silent_p.Q596Q			Q96L91	EP400_HUMAN	E1A binding protein p400	633					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGAAGACTCAGCAGCCCAATG	0.637																																						dbGAP											0			12											128	114	119					12																	132466885		2203	4300	6503	131032838	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"trinucleotide repeat containing 12"	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1899G>A	12.37:g.132466885G>A		209	0.48	1					131032838	44	34.33	23	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	HMMPfam_SNF2_N,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMPfam_HSA,superfamily_Homeodomain_like,HMMSmart_HSA,HMMSmart_DEXDc,superfamily_SSF52540	p.Q596	ENST00000333577.4	37	c.1788		12																																																																																			-	NULL		0.637	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		G	NM_015409		131032838	1	no_errors	NM_015409.3	genbank	human	validated	54_36p	silent	SNP	0.985	A	A	132466885	G	A	132466885	2	1	1	1	0	0	0	0	0	0	0	1	5149	962	34	2		2	EP400	12	132466885	Silent	SNP	G	TCGA-AB-2802-03B-01W-0728-08	19578720	132466885	1385010	11	11											
C20orf24	55969	genome.wustl.edu	37	20	35240439	35240439	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2802-03B-01W-0728-08	TCGA-AB-2802-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	18257c7e-ce2a-4dce-8bc0-db47ca8201a4	07284d3f-346f-473f-864e-5be1a95560ff	g.chr20:35240439C>T	ENST00000373852.5	+	4	538	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	TGIF2-C20orf24_ENST00000558530.1_Silent_p.A151A|C20orf24_ENST00000344795.3_Silent_p.A125A|C20orf24_ENST00000342422.3_Missense_Mutation_p.P82L			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24	135				LFMVCVADSFTTGHLDHLLHCHPL -> IVHGHLLLLFTSH PYSMMVSDSK (in Ref. 6; AAB50849). {ECO:0000305}.						breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TTTACACTGCCATCCATTATG	0.478																																						dbGAP											0			20											273	257	262					20																	35240439		2203	4300	6503	34673853	SO:0001583	missense	0			AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.403C>T	20.37:g.35240439C>T	ENSP00000362958:p.His135Tyr	375	0.79	3					34673853	32	34	17	E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Missense_Mutation	SNP	HMMPfam_Rab5ip	p.P82L	ENST00000373852.5	37	c.245	CCDS56190.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.49|13.49	2.254166|2.254166	0.39896|0.39896	.|.	.|.	ENSG00000101084|ENSG00000101084	ENST00000373852|ENST00000342422	.|.	.|.	.|.	6.04|6.04	4.1|4.1	0.47936|0.47936	.|.	.|0.209727	.|0.30879	.|N	.|0.008697	T|T	0.20577|0.20577	0.0495|0.0495	.|.	.|.	.|.	0.29824|0.29824	N|N	0.830595|0.830595	B|B	0.02656|0.15141	0.0|0.012	B|B	0.01281|0.12156	0.0|0.007	T|T	0.16335|0.16335	-1.0406|-1.0406	7|8	0.59425|0.11182	D|T	0.04|0.66	-17.2898|-17.2898	6.293|6.293	0.21071|0.21071	0.1475:0.6966:0.0:0.1559|0.1475:0.6966:0.0:0.1559	.|.	135|82	Q9BUV8|Q5QPG6	CT024_HUMAN|.	Y|L	135|82	.|.	ENSP00000362958:H135Y|ENSP00000341213:P82L	H|P	+|+	1|2	0|0	C20orf24|C20orf24	34673853|34673853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.862000|0.862000	0.49288|0.49288	0.789000|0.789000	0.26886|0.26886	1.568000|1.568000	0.49683|0.49683	0.561000|0.561000	0.74099|0.74099	CAT|CCA	-	HMMPfam_Rab5ip		0.478	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	protein_coding	OTTHUMT00000079006.1	C	NM_018840		34673853	1	no_errors	NM_199483.2	genbank	human	validated	54_36p	missense	SNP	0.994	T	T	35240439	C	T	35240439	3	4	1	1	0	0	0	0	1	0	0	0	2105	594	21	2	389	2	C20orf24	20	35240439	Missense_Mutation	SNP	C	TCGA-AB-2802-03B-01W-0728-08		35240439	27785081	12	12											
CACNA1S	779	genome.wustl.edu	37	1	201054627	201054627	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr1:201054627G>A	ENST00000362061.3	-	8	1313	c.1087C>T	c.(1087-1089)Ctt>Ttt	p.L363F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L363F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	363	Binding to the beta subunit. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TAGCCCCGAAGGTCCTCATCT	0.572											OREG0014068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			1											156	139	145					1																	201054627		2203	4300	6503	199321250	SO:0001583	missense	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1087C>T	1.37:g.201054627G>A	ENSP00000355192:p.Leu363Phe	90	0	0	2118				199321250	107	36.09	61	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_SSF81324	p.L363F	ENST00000362061.3	37	c.1087	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536881	0.45176	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97791	-4.54;-4.54	4.55	3.61	0.41365	.	0.164243	0.41605	D	0.000855	D	0.98036	0.9353	M	0.82923	2.615	0.39415	D	0.966812	D	0.58620	0.983	P	0.59595	0.86	D	0.98119	1.0424	10	0.62326	D	0.03	.	9.2941	0.37804	0.0809:0.0:0.7121:0.2069	.	363	Q13698	CAC1S_HUMAN	F	363	ENSP00000355192:L363F;ENSP00000356307:L363F	ENSP00000355192:L363F	L	-	1	0	CACNA1S	199321250	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.236000	0.51336	2.232000	0.73038	0.579000	0.79373	CTT	-	NULL		0.572	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	protein_coding	OTTHUMT00000087049.1	G	NM_000069		199321250	-1	no_errors	NM_000069.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	201054627	G	A	201054627	3	1	2	1	0	0	0	0	1	0	0	0	2547	1000	35	2	4682	2	CACNA1S	1	201054627	Missense_Mutation	SNP	G	TCGA-AB-2803-03B-01W-0728-08		201054627	48195994	1	13											
LMOD1	25802	genome.wustl.edu	37	1	201915305	201915305	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr1:201915305G>A	ENST00000367288.4	-	1	410	c.164C>T	c.(163-165)aCg>aTg	p.T55M		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	55					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGTTTCTCCGTCTGGTTTCT	0.577																																						dbGAP											0			1											91	98	96					1																	201915305		2003	4173	6176	200181928	SO:0001583	missense	0			X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.164C>T	1.37:g.201915305G>A	ENSP00000356257:p.Thr55Met	94	0	0					200181928	99	43.58	78	B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	HMMPfam_WH2,HMMPfam_Tropomodulin,superfamily_SSF52047	p.T55M	ENST00000367288.4	37	c.164	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678551	0.88542	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	T	0.39229	1.09	5.93	5.02	0.67125	.	0.173327	0.27604	N	0.018632	T	0.69124	0.3076	M	0.90019	3.08	0.50813	D	0.999898	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.978	T	0.76046	-0.3102	10	0.87932	D	0	-39.4263	12.6599	0.56808	0.0792:0.0:0.9208:0.0	.	55;55	B4E3S9;P29536	.;LMOD1_HUMAN	M	55	ENSP00000356257:T55M	ENSP00000356257:T55M	T	-	2	0	LMOD1	200181928	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.329000	0.52060	1.522000	0.49001	0.561000	0.74099	ACG	-	HMMPfam_Tropomodulin		0.577	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	protein_coding	OTTHUMT00000087085.2	G			200181928	-1	no_errors	ENST00000367288	ensembl	human	known	54_36p	missense	SNP	1.000	A	A	201915305	G	A	201915305	3	1	2	1	0	0	0	0	1	0	0	0	8856	1145	40	1	1650	1	LMOD1	1	201915305	Missense_Mutation	SNP	G	TCGA-AB-2803-03B-01W-0728-08	860678	201915305	47335316	2	14											
PEX13	5194	genome.wustl.edu	37	2	61258937	61258937	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr2:61258937delG	ENST00000295030.5	+	2	514	c.476delG	c.(475-477)aggfs	p.R159fs	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	159	Targeting to peroxisomes.				cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			AACAGTTTCAGGGCTGTATTG	0.393																																						dbGAP											0			2											176	170	172					2																	61258937		2203	4300	6503	61112441	SO:0001589	frameshift_variant	0			U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"peroxisome biogenesis factor 13"			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.476delG	2.37:g.61258937delG	ENSP00000295030:p.Arg159fs	158	0	0		3	0	0	61112441	113	43.46	93	B2RCS1	Frame_Shift_Del	DEL	HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Peroxin-13_N	p.A160fs	ENST00000295030.5	37	c.476	CCDS1866.1	2																																																																																			-	HMMPfam_Peroxin-13_N		0.393	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX13	protein_coding	OTTHUMT00000251581.3	G	NM_002618		61112441	1	no_errors	NM_002618.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	61258937	G	-	61258937	7	5	2	1	0	1	0	1	0	0	0	0	11741	1000	35	0	482	0	PEX13	2	61258937	Frame_Shift_Del	DEL	G	TCGA-AB-2803-03B-01W-0728-08		61258937	181940436	3	15											
RPL32	6161	genome.wustl.edu	37	3	12880994	12880994	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr3:12880994C>A	ENST00000429711.2	-	3	231	c.132G>T	c.(130-132)agG>agT	p.R44S	RPL32_ENST00000396953.2_Missense_Mutation_p.R44S|RPL32_ENST00000435983.1_Missense_Mutation_p.R44S|RPL32_ENST00000396957.1_Missense_Mutation_p.R44S|RPL32_ENST00000273223.6_Missense_Mutation_p.R62S|SNORA7A_ENST00000384765.1_RNA	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TTCTACGAACCCTGTTGTCAA	0.493																																						dbGAP											0			3											215	218	217					3																	12880994		2203	4300	6503	12855994	SO:0001583	missense	0			CA436299, CF124158, CR608027	CCDS2614.1	3q13.3-q21	2011-04-06			ENSG00000144713	ENSG00000144713		"L ribosomal proteins"	10336	protein-coding gene	gene with protein product						9284913	Standard	NM_001007073		Approved	L32	uc003bxl.3	P62910	OTTHUMG00000129804	ENST00000429711.2:c.132G>T	3.37:g.12880994C>A	ENSP00000416429:p.Arg44Ser	84	0	0		1244	52.68	1394	12855994	64	46.28	56	B2R4Q3|P02433	Missense_Mutation	SNP	HMMPfam_Ribosomal_L32e,superfamily_Ribosomal protein L32e,PatternScan_RIBOSOMAL_L32E	p.R44S	ENST00000429711.2	37	c.132	CCDS2614.1	3	.	.	.	.	.	.	.	.	.	.	C	14.96	2.691853	0.48097	.	.	ENSG00000144713	ENST00000429711;ENST00000396957;ENST00000273223;ENST00000435983;ENST00000396953;ENST00000457131;ENST00000434963	.	.	.	3.95	0.933	0.19471	.	0.000000	0.85682	D	0.000000	T	0.62282	0.2415	M	0.88105	2.93	0.80722	D	1	B	0.27264	0.173	B	0.30401	0.115	T	0.60244	-0.7301	9	0.87932	D	0	-1.9732	3.8505	0.08953	0.0:0.4983:0.1857:0.316	.	44	P62910	RL32_HUMAN	S	44;44;62;44;44;44;44	.	ENSP00000339064:R62S	R	-	3	2	RPL32	12855994	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	1.002000	0.29796	0.284000	0.22305	0.467000	0.42956	AGG	-	HMMPfam_Ribosomal_L32e,superfamily_Ribosomal protein L32e		0.493	RPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL32	protein_coding	OTTHUMT00000252032.2	C	NM_000994		12855994	-1	no_errors	NM_000994.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	12880994	C	A	12880994	3	1	2	1	0	0	0	0	1	0	0	0	13582	622	22	4	283	4	RPL32	3	12880994	Missense_Mutation	SNP	C	TCGA-AB-2803-03B-01W-0728-08		12880994	185141436	4	16											
CC2D2A	57545	genome.wustl.edu	37	4	15569352	15569352	+	Missense_Mutation	SNP	C	C	T	rs386833752		TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr4:15569352C>T	ENST00000503292.1	+	27	3521	c.3341C>T	c.(3340-3342)aCg>aTg	p.T1114M	CC2D2A_ENST00000413206.1_Missense_Mutation_p.T1114M|CC2D2A_ENST00000424120.1_Missense_Mutation_p.T1114M|CC2D2A_ENST00000389652.5_Missense_Mutation_p.T1065M	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1114	C2.		T -> M (in MKS6 and JBTS9). {ECO:0000269|PubMed:19466712, ECO:0000269|PubMed:19777577}.		cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GTTTGCCATACGACTACGGCT	0.368																																						dbGAP											0			4											81	78	79					4																	15569352		1857	4103	5960	15178450	SO:0001583	missense	0			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"Meckel syndrome, type 6"	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.3341C>T	4.37:g.15569352C>T	ENSP00000421809:p.Thr1114Met	123	0	0					15178450	102	39.53	68	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Missense_Mutation	SNP	HMMSmart_C2	p.T1114M	ENST00000503292.1	37	c.3341	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.127726	0.77549	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	6.08	5.24	0.73138	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	D	0.93671	0.7978	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94505	0.7713	10	0.87932	D	0	.	15.1507	0.72696	0.0:0.9329:0.0:0.0671	.	1114;1065	Q9P2K1;Q9P2K1-2	C2D2A_HUMAN;.	M	1114;1114;1065;1065;1114;1065	ENSP00000403465:T1114M;ENSP00000398391:T1114M;ENSP00000421809:T1114M;ENSP00000374303:T1065M	ENSP00000374303:T1065M	T	+	2	0	CC2D2A	15178450	1.000000	0.71417	0.868000	0.34077	0.694000	0.40290	7.538000	0.82048	1.590000	0.49995	0.655000	0.94253	ACG	-	HMMSmart_C2		0.368	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	protein_coding	OTTHUMT00000359906.2	C	NM_001080522		15178450	1	no_errors	NM_001080522.2	genbank	human	validated	54_36p	missense	SNP	0.971	T	T	15569352	C	T	15569352	3	4	2	1	0	0	0	0	1	0	0	0	2728	536	19	1	3642	1	CC2D2A	4	15569352	Missense_Mutation	SNP	C	TCGA-AB-2803-03B-01W-0728-08		15569352	175584924	5	17											
LNX1	84708	genome.wustl.edu	37	4	54374249	54374249	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr4:54374249C>T	ENST00000263925.7	-	3	840	c.526G>A	c.(526-528)Gag>Aag	p.E176K	LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000306888.2_Missense_Mutation_p.E80K|LNX1-AS1_ENST00000511989.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000514364.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	176					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGGCCAGGCTCGTCTGTCATT	0.627																																						dbGAP											0			4											32	32	32					4																	54374249		2203	4300	6503	54069006	SO:0001583	missense	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.526G>A	4.37:g.54374249C>T	ENSP00000263925:p.Glu176Lys	89	2.17	2					54069006	97	49.22	95	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ	p.E80K	ENST00000263925.7	37	c.238	CCDS47057.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.338532	0.95783	.	.	ENSG00000072201	ENST00000306888;ENST00000263925	T;T	0.11277	2.79;3.88	5.31	4.46	0.54185	.	0.095720	0.64402	D	0.000001	T	0.13670	0.0331	L	0.34521	1.04	0.58432	D	0.999998	P;P	0.42735	0.788;0.778	B;P	0.46629	0.254;0.522	T	0.05533	-1.0879	10	0.29301	T	0.29	.	16.0484	0.80735	0.0:0.8656:0.1344:0.0	.	176;80	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	K	80;176	ENSP00000302879:E80K;ENSP00000263925:E176K	ENSP00000263925:E176K	E	-	1	0	LNX1	54069006	1.000000	0.71417	0.834000	0.33040	0.959000	0.62525	4.451000	0.60047	1.222000	0.43521	0.555000	0.69702	GAG	-	NULL		0.627	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	protein_coding	OTTHUMT00000219934.2	C			54069006	-1	no_errors	NM_032622.1	genbank	human	reviewed	54_36p	missense	SNP	0.988	T	T	54374249	C	T	54374249	3	4	2	1	0	0	0	0	1	0	0	0	8865	893	31	1	1696	1	LNX1	4	54374249	Missense_Mutation	SNP	C	TCGA-AB-2803-03B-01W-0728-08	38804897	54374249	136780027	6	18											
FNIP2	57600	genome.wustl.edu	37	4	159754760	159754760	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr4:159754760G>A	ENST00000264433.6	+	6	710	c.635G>A	c.(634-636)tGt>tAt	p.C212Y	FNIP2_ENST00000379346.3_Missense_Mutation_p.C235Y	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	212					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTGGGTCCTTGTCGTACTGGA	0.383																																						dbGAP											0			4											97	91	93					4																	159754760		1833	4092	5925	159974210	SO:0001583	missense	0			AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"O6-methylguanine-induced apoptosis 1"	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.635G>A	4.37:g.159754760G>A	ENSP00000264433:p.Cys212Tyr	186	0	0		2	33.33	1	159974210	145	36.86	87	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	NULL	p.C212Y	ENST00000264433.6	37	c.635	CCDS47155.1	4	.	.	.	.	.	.	.	.	.	.	G	1.135	-0.651337	0.03506	.	.	ENSG00000052795	ENST00000264433;ENST00000512986;ENST00000379346;ENST00000504715	T;T;T;T	0.29655	1.97;1.95;1.96;1.56	5.32	4.47	0.54385	.	.	.	.	.	T	0.25494	0.0620	L	0.36672	1.1	0.31829	N	0.624937	B;B	0.30021	0.248;0.265	B;B	0.30105	0.111;0.098	T	0.20075	-1.0286	8	.	.	.	.	13.3068	0.60357	0.0:0.0:0.7138:0.2862	.	212;235	Q9P278;D6RFH5	FNIP2_HUMAN;.	Y	212;235;235;47	ENSP00000264433:C212Y;ENSP00000421488:C235Y;ENSP00000368651:C235Y;ENSP00000420841:C47Y	.	C	+	2	0	FNIP2	159974210	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.962000	0.49176	1.210000	0.43336	0.655000	0.94253	TGT	-	NULL		0.383	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNIP2	protein_coding	OTTHUMT00000366602.1	G	NM_020840		159974210	1	no_errors	NM_020840.1	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	159754760	G	A	159754760	3	1	2	1	0	0	0	0	1	0	0	0	5976	1377	48	2	657	2	FNIP2	4	159754760	Missense_Mutation	SNP	G	TCGA-AB-2803-03B-01W-0728-08	105380511	159754760	31399516	7	19											
POU5F1	5460	genome.wustl.edu	37	6	31133004	31133004	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr6:31133004G>T	ENST00000259915.8	-	4	789	c.717C>A	c.(715-717)aaC>aaA	p.N239K	POU5F1_ENST00000513407.1_Missense_Mutation_p.N43K|POU5F1_ENST00000512818.1_Missense_Mutation_p.N43K|POU5F1_ENST00000606567.1_Missense_Mutation_p.N69K|POU5F1_ENST00000441888.3_Missense_Mutation_p.N43K|POU5F1_ENST00000471529.2_Missense_Mutation_p.N43K	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	239					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	CTCTCACTCGGTTCTCGATAC	0.562			T	EWSR1	sarcoma																																	dbGAP		Dom	yes		6	6p21.31	5460	"POU domain, class 5, transcription factor 1"		M	0			6											53	34	41					6																	31133004		1511	2708	4219	31240983	SO:0001583	missense	0			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"Homeoboxes / POU class"	9221	protein-coding gene	gene with protein product		164177	"POU domain class 5, transcription factor 1"	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.717C>A	6.37:g.31133004G>T	ENSP00000259915:p.Asn239Lys	191	0	0		1	75	3	31240983	136	43.44	106	A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1	p.N239K	ENST00000259915.8	37	c.717	CCDS34391.1	6	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309254	0.60414	.	.	ENSG00000204531	ENST00000541552;ENST00000512818;ENST00000259915;ENST00000441888;ENST00000471529	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	6.05	4.27	0.50696	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.090924	0.48286	D	0.000199	D	0.87605	0.6219	L	0.33624	1.015	0.32235	N	0.57349	P;P	0.48089	0.73;0.905	B;B	0.42245	0.251;0.381	D	0.86783	0.1980	10	0.66056	D	0.02	.	8.9791	0.35955	0.2296:0.0:0.7704:0.0	.	239;144	Q01860;D2IYK4	PO5F1_HUMAN;.	K	144;43;239;43;43	ENSP00000425479:N43K;ENSP00000259915:N239K;ENSP00000389359:N43K;ENSP00000425083:N43K	ENSP00000259915:N239K	N	-	3	2	POU5F1	31240983	0.006000	0.16342	1.000000	0.80357	0.984000	0.73092	0.384000	0.20668	1.577000	0.49804	-0.156000	0.13503	AAC	-	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like		0.562	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1	protein_coding	OTTHUMT00000076413.4	G	NM_002701		31240983	-1	no_errors	NM_002701.4	genbank	human	validated	54_36p	missense	SNP	0.995	T	T	31133004	G	T	31133004	3	4	2	1	0	0	0	0	1	0	0	0	12281	1252	44	4	373	4	POU5F1	6	31133004	Missense_Mutation	SNP	G	TCGA-AB-2803-03B-01W-0728-08		31133004	139982063	8	20											
POM121C	100101267	genome.wustl.edu	37	7	75051473	75051473	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr7:75051473C>G	ENST00000257665.5	-	11	2787	c.2788G>C	c.(2788-2790)Ggc>Cgc	p.G930R	POM121C_ENST00000453279.2_Missense_Mutation_p.G688R|POM121C_ENST00000473168.1_5'Flank			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	930	Pore side. {ECO:0000255}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCGCTTGAGCCAAAGGGAATG	0.672																																						dbGAP											0			7																																								74889409	SO:0001583	missense	0				CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"POM121 membrane glycoprotein C"			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.2788G>C	7.37:g.75051473C>G	ENSP00000257665:p.Gly930Arg	7	0	0		13	0	0	74889409	9	10	1	O75115|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.G688R	ENST00000257665.5	37	c.2062		7	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067750	0.36470	.	.	ENSG00000135213	ENST00000257665;ENST00000453279	T;T	0.25250	3.27;1.81	2.84	0.862	0.19056	.	0.556655	0.15025	N	0.284770	T	0.38825	0.1055	M	0.75777	2.31	0.28114	N	0.930895	D	0.61080	0.989	P	0.58873	0.847	T	0.21415	-1.0246	10	0.87932	D	0	.	4.0874	0.09953	0.0:0.477:0.0:0.523	.	930	A8CG34	P121C_HUMAN	R	930;688	ENSP00000257665:G930R;ENSP00000414208:G688R	ENSP00000257665:G930R	G	-	1	0	POM121C	74889409	0.334000	0.24739	0.241000	0.24154	0.368000	0.29767	0.316000	0.19469	0.479000	0.27511	0.187000	0.17357	GGC	-	NULL		0.672	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	POM121C	protein_coding	OTTHUMT00000343919.2	C	NM_001099415		74889409	-1	no_errors	NM_001099415.1	genbank	human	validated	54_36p	missense	SNP	0.135	G	G	75051473	C	G	75051473	3	3	2	1	0	0	0	0	1	0	0	0	12240	594	21	4	913	4	POM121C	7	75051473	Missense_Mutation	SNP	C	TCGA-AB-2803-03B-01W-0728-08		75051473	84087190	9	21											
TAS2R38	5726	genome.wustl.edu	37	7	141672554	141672554	+	Silent	SNP	C	C	G			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr7:141672554C>G	ENST00000547270.1	-	1	1019	c.936G>C	c.(934-936)ctG>ctC	p.L312L		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	312					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GAGCCCAGAGCAGAATGGTCA	0.517																																						dbGAP											0			7											69	60	63					7																	141672554		2203	4300	6503	141319023	SO:0001819	synonymous_variant	0			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"Taste receptors / Type 2", "GPCR / Unclassified : Taste receptors"	9584	protein-coding gene	gene with protein product		607751	"phenylthiocarbamide tasting"	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.936G>C	7.37:g.141672554C>G		74	0	0					141319023	81	42.07	61	A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	HMMPfam_TAS2R,superfamily_SSF81321	p.L312	ENST00000547270.1	37	c.936	CCDS34765.1	7																																																																																			-	HMMPfam_TAS2R,superfamily_SSF81321		0.517	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R38	protein_coding	OTTHUMT00000350810.2	C	NM_176817		141319023	-1	no_errors	NM_176817.3	genbank	human	validated	54_36p	silent	SNP	0.001	G	G	141672554	C	G	141672554	2	3	2	1	0	0	0	0	0	0	0	1	15572	697	25	4		4	TAS2R38	7	141672554	Silent	SNP	C	TCGA-AB-2803-03B-01W-0728-08	66621081	141672554	17466109	10	22											
C7orf29	113763	genome.wustl.edu	37	7	150028046	150028046	+	Silent	SNP	C	C	T			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr7:150028046C>T	ENST00000343855.4	+	1	1109	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	185																	CGGGGGCTCGCTGTCCACCAA	0.617																																						dbGAP											0			7											27	29	28					7																	150028046		2203	4300	6503	149658979	SO:0001819	synonymous_variant	0			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"chromosome 7 open reading frame 29"	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.553C>T	7.37:g.150028046C>T		23	0	0		1	0	0	149658979	44	29.03	18		Silent	SNP	NULL	p.L185	ENST00000343855.4	37	c.553	CCDS5900.1	7																																																																																			-	NULL		0.617	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf29	protein_coding	OTTHUMT00000350702.1	C	NM_138434		149658979	1	no_errors	NM_138434.2	genbank	human	validated	54_36p	silent	SNP	0.015	T	T	150028046	C	T	150028046	2	4	2	1	0	0	0	0	0	0	0	1	2385	796	28	2		2	C7orf29	7	150028046	Silent	SNP	C	TCGA-AB-2803-03B-01W-0728-08	8355492	150028046	9110617	11	23											
TRIM48	79097	genome.wustl.edu	37	11	55033149	55033149	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr11:55033149C>A	ENST00000417545.2	+	3	619	c.533C>A	c.(532-534)aCc>aAc	p.T178N		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AATGTGGAAACCACCAGAATC	0.403																																						dbGAP											0			11											46	52	50					11																	55033149		2187	4252	6439	54789725	SO:0001583	missense	0			AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19021	protein-coding gene	gene with protein product			"tripartite motif-containing 48"				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.533C>A	11.37:g.55033149C>A	ENSP00000402414:p.Thr178Asn	24	0	0					54789725	44	37.14	26	Q9BUW4	Missense_Mutation	SNP	HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_RING,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF57850	p.T162N	ENST00000417545.2	37	c.485	CCDS7947.2	11	.	.	.	.	.	.	.	.	.	.	c	5.706	0.314868	0.10789	.	.	ENSG00000150244	ENST00000417545	T	0.72942	-0.7	0.596	-1.19	0.09585	.	.	.	.	.	T	0.71341	0.3328	M	0.84511	2.7	0.09310	N	1	P	0.45011	0.848	P	0.48368	0.575	T	0.59579	-0.7428	8	0.21014	T	0.42	.	.	.	.	.	162	Q8IWZ4	TRI48_HUMAN	N	178	ENSP00000402414:T178N	ENSP00000402414:T178N	T	+	2	0	TRIM48	54789725	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	-0.232000	0.09055	-1.193000	0.02688	-0.506000	0.04501	ACC	-	NULL		0.403	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM48	protein_coding	OTTHUMT00000347088.1	C			54789725	1	no_errors	NM_024114.3	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	55033149	C	A	55033149	3	1	2	1	0	0	0	0	1	0	0	0	16520	507	18	4	543	4	TRIM48	11	55033149	Missense_Mutation	SNP	C	TCGA-AB-2803-03B-01W-0728-08		55033149	79973367	12	24											
TUBA1A	7846	genome.wustl.edu	37	12	49578980	49578980	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr12:49578980C>T	ENST00000295766.5	-	4	1648	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	TUBA1A_ENST00000301071.7_Missense_Mutation_p.R390H|TUBA1A_ENST00000550767.1_Missense_Mutation_p.R355H	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	390					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	GTGGTCCAGGCGAGCCCAGGC	0.577																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	dbGAP											0			12											100	87	91					12																	49578980		2203	4298	6501	47865247	SO:0001583	missense	0			AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"Tubulins"	20766	protein-coding gene	gene with protein product	"tubulin, alpha, brain-specific"	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.1169G>A	12.37:g.49578980C>T	ENSP00000439020:p.Arg390His	98	0	0		167	16.92	34	47865247	148	22.4	43	A8K0B8|G3V1U9|P04687|P05209	Missense_Mutation	SNP	HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like	p.R390H	ENST00000295766.5	37	c.1169	CCDS58227.1	12	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557390	0.45590	.	.	ENSG00000167552	ENST00000301071;ENST00000552597;ENST00000548405;ENST00000295766;ENST00000550767	D;D;D	0.83673	-1.75;-1.75;-1.75	5.51	5.51	0.81932	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87438	0.6177	M	0.87682	2.9	0.80722	D	1	B	0.22146	0.065	B	0.30646	0.118	D	0.86107	0.1560	10	0.87932	D	0	.	18.2109	0.89869	0.0:1.0:0.0:0.0	.	390	Q71U36	TBA1A_HUMAN	H	390;121;237;390;355	ENSP00000301071:R390H;ENSP00000439020:R390H;ENSP00000446637:R355H	ENSP00000439020:R390H	R	-	2	0	TUBA1A	47865247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.334000	0.79224	2.581000	0.87130	0.655000	0.94253	CGC	-	superfamily_Tubulin C-terminal domain-like,HMMPfam_Tubulin_C		0.577	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	TUBA1A	protein_coding	OTTHUMT00000404547.2	C	NM_006009		47865247	-1	no_errors	NM_006009.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	49578980	C	T	49578980	3	4	2	1	0	0	0	0	1	0	0	0	16740	768	27	1	190	1	TUBA1A	12	49578980	Missense_Mutation	SNP	C	TCGA-AB-2803-03B-01W-0728-08		49578980	84272915	13	25											
RYR3	6263	genome.wustl.edu	37	15	34048515	34048515	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr15:34048515G>A	ENST00000389232.4	+	59	8594	c.8524G>A	c.(8524-8526)Gtc>Atc	p.V2842I	RYR3_ENST00000415757.3_Missense_Mutation_p.V2842I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2842					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAAGCCATTGTCAGCAGTGG	0.413																																						dbGAP											0			15											69	66	67					15																	34048515		1856	4109	5965	31835807	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8524G>A	15.37:g.34048515G>A	ENSP00000373884:p.Val2842Ile	122	0	0					31835807	107	39.55	70	O15175|Q15412	Missense_Mutation	SNP	HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand	p.V2842I	ENST00000389232.4	37	c.8524	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898795	0.52227	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96554	-4.05;-4.05	5.2	4.28	0.50868	.	0.136962	0.49305	N	0.000155	D	0.91341	0.7269	N	0.17082	0.46	0.35894	D	0.829888	B;B	0.16396	0.008;0.017	B;B	0.13407	0.003;0.009	D	0.90007	0.4118	10	0.33940	T	0.23	.	13.998	0.64414	0.0737:0.0:0.9263:0.0	.	2842;2842	Q15413-2;Q15413	.;RYR3_HUMAN	I	2842	ENSP00000373884:V2842I;ENSP00000399610:V2842I	ENSP00000354735:V2842I	V	+	1	0	RYR3	31835807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.684000	0.61686	1.558000	0.49541	0.655000	0.94253	GTC	-	NULL		0.413	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	G			31835807	1	no_errors	NM_001036.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	34048515	G	A	34048515	3	1	2	1	0	0	0	0	1	0	0	0	13770	1377	48	2	8758	2	RYR3	15	34048515	Missense_Mutation	SNP	G	TCGA-AB-2803-03B-01W-0728-08		34048515	68482877	14	26											
FSD2	123722	genome.wustl.edu	37	15	83455740	83455740	+	Missense_Mutation	SNP	C	C	T	rs376156057		TCGA-AB-2803-03B-01W-0728-08	TCGA-AB-2803-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b32f55af-f22a-4a37-a9f6-753d1b1eb72d	7cf1ee32-4453-4377-af5e-7d9ac9f8d43b	g.chr15:83455740C>T	ENST00000334574.8	-	2	584	c.403G>A	c.(403-405)Gga>Aga	p.G135R	FSD2_ENST00000541889.1_Missense_Mutation_p.G135R			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	135										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCCCACCCTCCGAAGCCCAGG	0.587																																						dbGAP											0			15						C	ARG/GLY	0,4160		0,0,2080	53	59	57		403	-0.7	0	15		57	1,8383		0,1,4191	no	missense	FSD2	NM_001007122.2	125	0,1,6271	TT,TC,CC		0.0119,0.0,0.0080	possibly-damaging	135/750	83455740	1,12543	2080	4192	6272	81252794	SO:0001583	missense	0			AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"Fibronectin type III domain containing"	18024	protein-coding gene	gene with protein product			"SPRY domain containing 1"	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.403G>A	15.37:g.83455740C>T	ENSP00000335651:p.Gly135Arg	75	0	0					81252794	68	50.72	70	B3KVG1|B7ZM02	Missense_Mutation	SNP	HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like	p.G135R	ENST00000334574.8	37	c.403	CCDS45332.1	15	.	.	.	.	.	.	.	.	.	.	C	12.98	2.099704	0.37048	0.0	1.19E-4	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.41758	0.99;0.99	5.15	-0.719	0.11201	.	1.993840	0.02296	N	0.070770	T	0.29524	0.0736	L	0.47716	1.5	0.09310	N	1	B;B	0.33494	0.414;0.414	B;B	0.27887	0.042;0.084	T	0.05484	-1.0882	10	0.19590	T	0.45	-0.2918	1.3727	0.02214	0.2936:0.3707:0.1049:0.2308	.	135;135	B7ZM02;A1L4K1	.;FSD2_HUMAN	R	135	ENSP00000335651:G135R;ENSP00000444078:G135R	ENSP00000335651:G135R	G	-	1	0	FSD2	81252794	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.675000	0.05227	-0.029000	0.13827	-0.140000	0.14226	GGA	-	NULL		0.587	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD2	protein_coding	OTTHUMT00000418385.1	C	NM_001007122		81252794	-1	no_errors	NM_001007122.2	genbank	human	provisional	54_36p	missense	SNP	0.000	T	T	83455740	C	T	83455740	3	4	2	1	0	0	0	0	1	0	0	0	6071	661	23	1	1894	1	FSD2	15	83455740	Missense_Mutation	SNP	C	TCGA-AB-2803-03B-01W-0728-08	49407225	83455740	19075652	15	27											
LIMS2	55679	genome.wustl.edu	37	2	128412067	128412067	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr2:128412067G>C	ENST00000355119.4	-	4	455	c.290C>G	c.(289-291)cCg>cGg	p.P97R	LIMS2_ENST00000410011.1_Missense_Mutation_p.P92R|LIMS2_ENST00000409808.2_Missense_Mutation_p.P92R|LIMS2_ENST00000324938.5_Missense_Mutation_p.P121R|LIMS2_ENST00000409455.1_Missense_Mutation_p.P92R|LIMS2_ENST00000545738.2_Missense_Mutation_p.P119R	NM_001161403.1	NP_001154875.1	Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	97	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of neural precursor cell proliferation (GO:2000178)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		GAAGCAGCCCGGGTGCCAGTT	0.612																																						dbGAP											0			2											147	138	141					2																	128412067		2203	4300	6503	128128537	SO:0001583	missense	0			AF520987	CCDS2147.1, CCDS54394.1, CCDS54395.1, CCDS54396.1, CCDS58725.1	2q21.1	2008-02-05			ENSG00000072163	ENSG00000072163			16084	protein-coding gene	gene with protein product		607908					Standard	NM_017980		Approved		uc002tox.3	Q7Z4I7	OTTHUMG00000131529	ENST00000355119.4:c.290C>G	2.37:g.128412067G>C	ENSP00000347240:p.Pro97Arg	18	0	0					128128537	35	40.68	24	A6NLH0|B4DMV1|F5H6E6|Q7Z4I2|Q7Z4I6|Q7Z4I8|Q8NFE7|Q9HA13	Missense_Mutation	SNP	HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716	p.P121R	ENST00000355119.4	37	c.362	CCDS54395.1	2	.	.	.	.	.	.	.	.	.	.	.	27.4	4.826782	0.90955	.	.	ENSG00000072163	ENST00000545738;ENST00000355119;ENST00000324938;ENST00000409455;ENST00000410109;ENST00000409808;ENST00000410011;ENST00000544917;ENST00000422034	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.37	5.37	0.77165	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94551	0.8245	M	0.87827	2.91	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.91635	0.98;0.999;0.999	D	0.95083	0.8215	10	0.72032	D	0.01	.	19.0997	0.93269	0.0:0.0:1.0:0.0	.	119;97;121	F5H6E6;Q7Z4I7;Q7Z4I7-2	.;LIMS2_HUMAN;.	R	119;97;121;92;92;92;92;119;92	ENSP00000443794:P119R;ENSP00000347240:P97R;ENSP00000326888:P121R;ENSP00000386383:P92R;ENSP00000386637:P92R;ENSP00000387002:P92R	ENSP00000326888:P121R	P	-	2	0	LIMS2	128128537	1.000000	0.71417	0.951000	0.38953	0.997000	0.91878	9.724000	0.98775	2.523000	0.85059	0.609000	0.83330	CCG	-	HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_SSF57716		0.612	LIMS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LIMS2	protein_coding	OTTHUMT00000331133.2	G	NM_017980		128128537	-1	no_errors	NM_017980.1	genbank	human	provisional	54_36p	missense	SNP	0.999	C	C	128412067	G	C	128412067	3	2	3	1	0	0	0	0	1	0	0	0	8804	1116	39	4	763	4	LIMS2	2	128412067	Missense_Mutation	SNP	G	TCGA-AB-2804-03B-01W-0728-08		128412067	114787306	1	28											
GNRHR	2798	genome.wustl.edu	37	4	68619639	68619639	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr4:68619639G>A	ENST00000226413.4	-	1	439	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	GNRHR_ENST00000420975.2_Missense_Mutation_p.R139C|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	139			R -> H (in HH7; completely eliminates detectable GnRH-binding activity and prevents GnRH-induced stimulation of inositol phosphate accumulation in vitro). {ECO:0000269|PubMed:11397871}.		cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)	p.R139S(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	GCCAGGGAGCGGTCCAGGCTG	0.517																																						dbGAP											1	Substitution - Missense(1)	lung(1)	4	GRCh37	CM066865	GNRHR	M							75	74	74					4																	68619639		2203	4300	6503	68302234	SO:0001583	missense	0				CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"GPCR / Class A : Gonadotropin-releasing hormone receptors"	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.415C>T	4.37:g.68619639G>A	ENSP00000226413:p.Arg139Cys	83	0	0					68302234	146	43.94	116	O75793|Q14D13|Q92644	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.R139C	ENST00000226413.4	37	c.415	CCDS3517.1	4	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500475	0.64298	.	.	ENSG00000109163	ENST00000226413;ENST00000420975	D;D	0.97186	-4.28;-4.28	6.17	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000007	D	0.98673	0.9555	M	0.92784	3.345	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98781	1.0732	10	0.87932	D	0	-18.7797	13.5464	0.61707	0.0:0.0:0.7798:0.2202	.	139;139	P30968;P30968-2	GNRHR_HUMAN;.	C	139	ENSP00000226413:R139C;ENSP00000397561:R139C	ENSP00000226413:R139C	R	-	1	0	GNRHR	68302234	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.238000	0.51352	2.941000	0.99782	0.655000	0.94253	CGC	-	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like		0.517	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNRHR	protein_coding	OTTHUMT00000251432.2	G			68302234	-1	no_errors	NM_000406.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	68619639	G	A	68619639	3	1	3	1	0	0	0	0	1	0	0	0	6549	1116	39	1	583	1	GNRHR	4	68619639	Missense_Mutation	SNP	G	TCGA-AB-2804-03B-01W-0728-08		68619639	122534637	2	29											
ATP2A2	488	genome.wustl.edu	37	12	110765452	110765452	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr12:110765452C>T	ENST00000539276.2	+	8	834	c.725C>T	c.(724-726)aCa>aTa	p.T242I	ATP2A2_ENST00000395494.2_Missense_Mutation_p.T215I|ATP2A2_ENST00000308664.6_Missense_Mutation_p.T242I			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	242					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGGTGGCAACAGAACAGGAG	0.453																																						dbGAP											0			12											182	180	181					12																	110765452		2203	4300	6503	109249835	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"ATPases / P-type"	812	protein-coding gene	gene with protein product	"sarcoplasmic/endoplasmic reticulum calcium ATPase 2", "calcium pump 2"	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.725C>T	12.37:g.110765452C>T	ENSP00000440045:p.Thr242Ile	82	1.2	1					109249835	184	35.27	103	A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M	p.T242I	ENST00000539276.2	37	c.725	CCDS9144.1	12	.	.	.	.	.	.	.	.	.	.	C	19.90	3.911928	0.72983	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	D;D;D	0.90069	-2.61;-2.61;-2.61	5.38	5.38	0.77491	ATPase, P-type, ATPase-associated domain (1);	0.043144	0.85682	D	0.000000	D	0.86443	0.5934	N	0.16037	0.36	0.80722	D	1	P;B;P	0.49696	0.827;0.4;0.927	B;B;P	0.49999	0.354;0.218;0.628	D	0.88745	0.3246	10	0.72032	D	0.01	.	19.5589	0.95364	0.0:1.0:0.0:0.0	.	215;242;242	P16615-4;P16615-2;P16615	.;.;AT2A2_HUMAN	I	242;215;242	ENSP00000311186:T242I;ENSP00000378872:T215I;ENSP00000440045:T242I	ENSP00000311186:T242I	T	+	2	0	ATP2A2	109249835	1.000000	0.71417	0.548000	0.28192	0.991000	0.79684	7.760000	0.85248	2.694000	0.91930	0.585000	0.79938	ACA	-	HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M		0.453	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	protein_coding	OTTHUMT00000403539.1	C	NM_001681		109249835	1	no_errors	NM_170665.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	110765452	C	T	110765452	3	4	3	1	0	0	0	0	1	0	0	0	1137	478	17	2	755	2	ATP2A2	12	110765452	Missense_Mutation	SNP	C	TCGA-AB-2804-03B-01W-0728-08		110765452	23086443	3	30											
OTOA	146183	genome.wustl.edu	37	16	21742187	21742187	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr16:21742187C>T	ENST00000286149.4	+	20	2280	c.2279C>T	c.(2278-2280)aCg>aTg	p.T760M	OTOA_ENST00000388957.3_Missense_Mutation_p.T422M|OTOA_ENST00000388956.4_Missense_Mutation_p.T667M|OTOA_ENST00000388958.3_Missense_Mutation_p.T746M			Q7RTW8	OTOAN_HUMAN	otoancorin	760					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.T746M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCGAGACCACGAAGGACTTG	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)	16											93	75	81					16																	21742187		2195	4275	6470	21649688	SO:0001583	missense	0			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"cancer/testis antigen 108"	607038	"deafness, autosomal recessive 22"	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.2279C>T	16.37:g.21742187C>T	ENSP00000286149:p.Thr760Met	60	0	0					21649688	174	38.95	111	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	NULL	p.T746M	ENST00000286149.4	37	c.2237		16	.	.	.	.	.	.	.	.	.	.	C	2.314	-0.357267	0.05138	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957;ENST00000338456	T;T;T;T	0.65178	-0.14;-0.14;-0.13;-0.11	4.11	1.04	0.20106	.	0.424357	0.23971	N	0.042773	T	0.45577	0.1349	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.31625	0.332;0.332;0.049;0.332	B;B;B;B	0.30782	0.12;0.082;0.02;0.12	T	0.31447	-0.9943	10	0.45353	T	0.12	0.0027	6.1383	0.20245	0.0:0.6661:0.0:0.3339	.	760;667;422;746	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	M	746;760;667;422;155	ENSP00000373610:T746M;ENSP00000286149:T760M;ENSP00000373608:T667M;ENSP00000373609:T422M	ENSP00000286149:T760M	T	+	2	0	OTOA	21649688	0.000000	0.05858	0.000000	0.03702	0.337000	0.28794	-0.131000	0.10482	0.137000	0.18759	-0.192000	0.12808	ACG	-	NULL		0.453	OTOA-003	KNOWN	basic	protein_coding	OTOA	protein_coding	OTTHUMT00000430021.1	C			21649688	1	no_errors	NM_144672.3	genbank	human	provisional	54_36p	missense	SNP	0.021	T	T	21742187	C	T	21742187	3	4	3	1	0	0	0	0	1	0	0	0	11302	536	19	1	2361	1	OTOA	16	21742187	Missense_Mutation	SNP	C	TCGA-AB-2804-03B-01W-0728-08		21742187	68612566	4	31											
LILRB2	10288	genome.wustl.edu	37	19	54782837	54782837	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chr19:54782837C>T	ENST00000391749.4	-	6	1056	c.785G>A	c.(784-786)cGt>cAt	p.R262H	LILRB2_ENST00000391748.1_Missense_Mutation_p.R262H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R262H|LILRB2_ENST00000471216.1_5'Flank|LILRB2_ENST00000391746.1_Missense_Mutation_p.R262H|LILRB2_ENST00000434421.1_Missense_Mutation_p.R146H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	262	Ig-like C2-type 3.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCGAAGGTCACGTTCCCCCTC	0.647																																						dbGAP											0			19											83	84	83					19																	54782837		2203	4300	6503	59474649	SO:0001583	missense	0			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"Leukocyte immunoglobulin-like receptors", "CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.785G>A	19.37:g.54782837C>T	ENSP00000375629:p.Arg262His	24	0	0					59474649	35	33.96	18	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin	p.R262H	ENST00000391749.4	37	c.785	CCDS12886.1	19	.	.	.	.	.	.	.	.	.	.	C	5.440	0.266344	0.10294	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746;ENST00000434421	T;T;T;T;T	0.00730	5.77;5.77;5.77;5.77;5.77	2.6	-5.2	0.02823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.678040	0.00805	N	0.001445	T	0.00552	0.0018	N	0.05383	-0.06	0.09310	N	1	B;B;B	0.18166	0.024;0.013;0.026	B;B;B	0.22753	0.013;0.014;0.041	T	0.47573	-0.9107	10	0.11485	T	0.65	.	6.8001	0.23746	0.3059:0.2406:0.4535:0.0	.	262;279;262	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	262;262;262;262;146	ENSP00000375628:R262H;ENSP00000319960:R262H;ENSP00000375629:R262H;ENSP00000375626:R262H;ENSP00000410117:R146H	ENSP00000319960:R262H	R	-	2	0	LILRB2	59474649	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-6.120000	0.00080	-1.948000	0.01033	-0.507000	0.04495	CGT	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin		0.647	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LILRB2	protein_coding	OTTHUMT00000139510.1	C			59474649	-1	no_errors	NM_005874.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	54782837	C	T	54782837	3	4	3	1	0	0	0	0	1	0	0	0	8791	536	19	1	1047	1	LILRB2	19	54782837	Missense_Mutation	SNP	C	TCGA-AB-2804-03B-01W-0728-08		54782837	4346146	5	32											
SCML2	10389	genome.wustl.edu	37	X	18264755	18264755	+	Silent	SNP	G	G	A			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chrX:18264755G>A	ENST00000251900.4	-	13	1923	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D	SCML2_ENST00000398048.3_Silent_p.D324D	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	588					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGGGGGATATGTCCCCAACTA	0.423																																					Esophageal Squamous(100;1252 1965 19021 35517)	dbGAP											0			X											122	106	112					X																	18264755		2203	4300	6503	18174676	SO:0001819	synonymous_variant	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1764C>T	X.37:g.18264755G>A		44	0	0					18174676	43	68.35	95	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,superfamily_Tudor/PWWP/MBT	p.D588	ENST00000251900.4	37	c.1764	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	G	4.241	0.043625	0.08196	.	.	ENSG00000102098	ENST00000420857	.	.	.	5.4	-2.04	0.07343	.	.	.	.	.	T	0.19485	0.0468	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23797	-1.0178	4	.	.	.	.	1.6377	0.02746	0.4481:0.135:0.2706:0.1463	.	.	.	.	I	104	.	.	T	-	2	0	SCML2	18174676	0.009000	0.17119	0.000000	0.03702	0.042000	0.13812	-0.017000	0.12590	-0.736000	0.04831	0.422000	0.28245	ACA	-	NULL		0.423	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	protein_coding	OTTHUMT00000055941.1	G	NM_006089		18174676	-1	no_errors	NM_006089.2	genbank	human	validated	54_36p	silent	SNP	0.001	A	A	18264755	G	A	18264755	2	1	3	1	0	0	0	0	0	0	0	1	13910	1368	48	2		2	SCML2	23	18264755	Silent	SNP	G	TCGA-AB-2804-03B-01W-0728-08		18264755	137005805	6	33											
PHF6	84295	genome.wustl.edu	37	X	133527979	133527979	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2804-03B-01W-0728-08	TCGA-AB-2804-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b3597ef-18f7-48a0-a39a-3a9e09f0a1d7	cc098a35-5f3d-460b-9d1c-f37f513dfc21	g.chrX:133527979G>T	ENST00000332070.3	+	5	617	c.415G>T	c.(415-417)Gaa>Taa	p.E139*	PHF6_ENST00000370800.4_Nonsense_Mutation_p.E139*|PHF6_ENST00000370803.3_Nonsense_Mutation_p.E139*|PHF6_ENST00000416404.2_Nonsense_Mutation_p.E105*|PHF6_ENST00000370799.1_Nonsense_Mutation_p.E139*|PHF6_ENST00000394292.1_Nonsense_Mutation_p.E139*	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	139					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)					ACATAACTCCGAAGGTACATC	0.299			"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											76	71	73					X																	133527979		2203	4299	6502	133355645	SO:0001587	stop_gained	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.415G>T	X.37:g.133527979G>T	ENSP00000329097:p.Glu139*	25	0	0					133355645	15	83.15	74	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Nonsense_Mutation	SNP	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger	p.E139*	ENST00000332070.3	37	c.415	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.250546	0.97412	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	.	.	.	4.92	4.92	0.64577	.	0.402385	0.30911	N	0.008626	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-21.582	14.6308	0.68655	0.0:0.0:1.0:0.0	.	.	.	.	X	139;139;139;139;105;139	.	ENSP00000329097:E139X	E	+	1	0	PHF6	133355645	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.914000	0.63348	2.178000	0.69098	0.462000	0.41574	GAA	-	NULL		0.299	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458		133355645	1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	133527979	G	T	133527979	4	4	3	1	0	0	0	0	0	1	0	0	11838	1059	37	4	429	4	PHF6	23	133527979	Nonsense_Mutation	SNP	G	TCGA-AB-2804-03B-01W-0728-08	115263224	133527979	21742581	7	34											
GNB1	2782	genome.wustl.edu	37	1	1747228	1747228	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr1:1747228T>G	ENST00000378609.4	-	5	501	c.170A>C	c.(169-171)aAg>aCg	p.K57T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	57					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCGTAGATCTTGGCCAGGTG	0.517																																						dbGAP											0			1											150	113	126					1																	1747228		2203	4300	6503	1737088	SO:0001583	missense	0			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"WD repeat domain containing"	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.170A>C	1.37:g.1747228T>G	ENSP00000367872:p.Lys57Thr	318	0	0		227	45.71	192	1737088	130	49.81	134	B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.K57T	ENST00000378609.4	37	c.170	CCDS34.1	1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939455	0.52972	.	.	ENSG00000078369	ENST00000378609;ENST00000378606;ENST00000434686;ENST00000439272;ENST00000437146	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.65059	0.2655	L	0.39467	1.215	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.66308	-0.5956	10	0.56958	D	0.05	-28.3985	15.1503	0.72692	0.0:0.0:0.0:1.0	.	57	P62873	GBB1_HUMAN	T	57;57;57;44;57	ENSP00000367872:K57T;ENSP00000392765:K57T;ENSP00000399741:K44T;ENSP00000416651:K57T	ENSP00000367869:K57T	K	-	2	0	GNB1	1737088	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.348000	0.79366	2.260000	0.74910	0.533000	0.62120	AAG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.517	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1	protein_coding	OTTHUMT00000002762.3	T	NM_002074		1737088	-1	no_errors	NM_002074.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	1747228	T	G	1747228	3	3	4	1	0	0	0	0	1	0	0	0	6515	1609	56	5	880	5	GNB1	1	1747228	Missense_Mutation	SNP	T	TCGA-AB-2805-03B-01W-0728-08		1747228	247503393	1	35											
BLZF1	8548	genome.wustl.edu	37	1	169345861	169345861	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr1:169345861G>A	ENST00000367808.3	+	3	535	c.112G>A	c.(112-114)Gga>Aga	p.G38R	BLZF1_ENST00000329281.2_Missense_Mutation_p.G38R|BLZF1_ENST00000367807.3_Missense_Mutation_p.G38R			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	38					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGTTACCTCCGGAGTCCAATC	0.458																																						dbGAP											0			1											89	89	89					1																	169345861		2203	4300	6503	167612485	SO:0001583	missense	0			U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	ENST00000367808.3:c.112G>A	1.37:g.169345861G>A	ENSP00000356782:p.Gly38Arg	119	0	0		10	54.55	12	167612485	102	52.21	118	O15298|Q5T531|Q5T533|Q9GZX4	Missense_Mutation	SNP	HMMPfam_DASH_Hsk3	p.G38R	ENST00000367808.3	37	c.112	CCDS1278.1	1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777563	0.31502	.	.	ENSG00000117475	ENST00000367808;ENST00000329281;ENST00000367807;ENST00000420531;ENST00000426663	T;T;T;T;T	0.50001	1.42;1.42;0.78;0.76;1.42	5.27	4.36	0.52297	.	0.424034	0.26919	N	0.021840	T	0.26846	0.0657	M	0.70595	2.14	0.33565	D	0.597833	B;B;P	0.41710	0.125;0.125;0.76	B;B;B	0.32533	0.019;0.019;0.147	T	0.21724	-1.0237	9	0.45353	T	0.12	-37.4004	11.1458	0.48430	0.0848:0.0:0.9152:0.0	.	38;38;38	A8K6R0;Q9H2G9;Q9H2G9-2	.;GO45_HUMAN;.	R	38	ENSP00000356782:G38R;ENSP00000327541:G38R;ENSP00000356781:G38R;ENSP00000414668:G38R;ENSP00000404408:G38R	ENSP00000327541:G38R	G	+	1	0	BLZF1	167612485	0.562000	0.26586	0.780000	0.31762	0.353000	0.29299	3.338000	0.52128	1.243000	0.43853	0.586000	0.80456	GGA	-	NULL		0.458	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLZF1	protein_coding	OTTHUMT00000086109.1	G	NM_003666		167612485	1	no_errors	NM_003666.2	genbank	human	validated	54_36p	missense	SNP	0.951	A	A	169345861	G	A	169345861	3	1	4	1	0	0	0	0	1	0	0	0	1453	1117	39	1	118	1	BLZF1	1	169345861	Missense_Mutation	SNP	G	TCGA-AB-2805-03B-01W-0728-08	167598633	169345861	79904760	2	36											
ADCY3	109	genome.wustl.edu	37	2	25050814	25050814	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr2:25050814G>A	ENST00000260600.5	-	13	3240	c.2389C>T	c.(2389-2391)Ccc>Tcc	p.P797S	ADCY3_ENST00000450524.1_5'UTR|RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000405392.1_Missense_Mutation_p.P384S	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	797					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCAAAGACGGGACGCCAGGCA	0.582											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			2											101	91	94					2																	25050814		2203	4300	6503	24904318	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"Adenylate cyclases"	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2389C>T	2.37:g.25050814G>A	ENSP00000260600:p.Pro797Ser	153	1.91	3	776	19	42.42	14	24904318	97	47.57	88	B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,PatternScan_GUANYLATE_CYCLASE_1	p.P797S	ENST00000260600.5	37	c.2389	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	G	0.551	-0.849365	0.02651	.	.	ENSG00000138031	ENST00000260600;ENST00000405392;ENST00000415879;ENST00000455323;ENST00000450524	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	5.38	2.58	0.30949	.	0.293497	0.38436	N	0.001688	T	0.39462	0.1079	N	0.11064	0.09	0.33882	D	0.636217	B;B;B	0.25235	0.008;0.024;0.121	B;B;B	0.20767	0.004;0.004;0.031	T	0.40194	-0.9576	10	0.07990	T	0.79	.	9.1298	0.36839	0.0686:0.0:0.6689:0.2625	.	797;797;384	B7ZLX9;O60266;B3KT86	.;ADCY3_HUMAN;.	S	797;384;772;136;140	ENSP00000260600:P797S;ENSP00000384484:P384S;ENSP00000402008:P136S;ENSP00000410972:P140S	ENSP00000260600:P797S	P	-	1	0	ADCY3	24904318	0.996000	0.38824	0.758000	0.31321	0.007000	0.05969	2.405000	0.44548	0.384000	0.24942	-0.895000	0.02911	CCC	-	NULL		0.582	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	protein_coding	OTTHUMT00000211574.2	G			24904318	-1	no_errors	NM_004036.3	genbank	human	reviewed	54_36p	missense	SNP	0.956	A	A	25050814	G	A	25050814	3	1	4	1	0	0	0	0	1	0	0	0	295	1174	41	2	1081	2	ADCY3	2	25050814	Missense_Mutation	SNP	G	TCGA-AB-2805-03B-01W-0728-08		25050814	218148559	3	37											
ALMS1	7840	genome.wustl.edu	37	2	73746927	73746927	+	Missense_Mutation	SNP	C	C	T	rs376367125		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr2:73746927C>T	ENST00000264448.6	+	11	9673	c.9562C>T	c.(9562-9564)Ctt>Ttt	p.L3188F	ALMS1_ENST00000409009.1_Missense_Mutation_p.L3146F	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3188					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGACCCCACTTTCTGCTTT	0.368																																						dbGAP											0			2						C	PHE/LEU	0,3626		0,0,1813	79	77	78		9562	-1.7	0	2		78	2,8144		0,2,4071	no	missense	ALMS1	NM_015120.4	22	0,2,5884	TT,TC,CC		0.0246,0.0,0.017	benign	3188/4168	73746927	2,11770	1813	4073	5886	73600435	SO:0001583	missense	0			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.9562C>T	2.37:g.73746927C>T	ENSP00000264448:p.Leu3188Phe	137	0	0		10	58.33	14	73600435	108	40.96	77	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.L3188F	ENST00000264448.6	37	c.9562	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	6.588	0.476912	0.12521	0.0	2.46E-4	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05717	3.4;3.4	5.26	-1.67	0.08238	.	2.561490	0.01105	N	0.005462	T	0.02494	0.0076	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.38714	-0.9648	10	0.09590	T	0.72	.	5.3565	0.16063	0.0:0.4087:0.1643:0.427	.	3188;3188;3146;3188	D6W5H5;Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;.;ALMS1_HUMAN	F	3146;3188	ENSP00000386627:L3146F;ENSP00000264448:L3188F	ENSP00000264448:L3188F	L	+	1	0	ALMS1	73600435	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.766000	0.04725	-0.197000	0.10350	-0.355000	0.07637	CTT	-	NULL		0.368	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	protein_coding	OTTHUMT00000327776.1	C	NM_015120		73600435	1	no_errors	NM_015120.4	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	73746927	C	T	73746927	3	4	4	1	0	0	0	0	1	0	0	0	535	565	20	2	9604	2	ALMS1	2	73746927	Missense_Mutation	SNP	C	TCGA-AB-2805-03B-01W-0728-08	48696113	73746927	169452446	4	38											
TTN	7273	genome.wustl.edu	37	2	179442196	179442196	+	Silent	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr2:179442196G>A	ENST00000591111.1	-	274	64167	c.63943C>T	c.(63943-63945)Cta>Tta	p.L21315L	TTN_ENST00000359218.5_Silent_p.L14016L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.L14083L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.L13891L|TTN_ENST00000342992.6_Silent_p.L20388L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Silent_p.L22956L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21315	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAATTGTTAGCCCATCTTTT	0.373																																						dbGAP											0			2											64	56	59					2																	179442196		1849	4094	5943	179150442	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.63943C>T	2.37:g.179442196G>A		158	0	0		1	0	0	179150442	95	35.37	52	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.L18937	ENST00000591111.1	37	c.56809		2																																																																																			-	HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179150442	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	silent	SNP	0.869	A	A	179442196	G	A	179442196	2	1	4	1	0	0	0	0	0	0	0	1	16732	962	34	2		2	TTN	2	179442196	Silent	SNP	G	TCGA-AB-2805-03B-01W-0728-08	105695269	179442196	63757177	5	39											
RELN	5649	genome.wustl.edu	37	7	103151448	103151448	+	Silent	SNP	A	A	G			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr7:103151448A>G	ENST00000428762.1	-	51	8283	c.8124T>C	c.(8122-8124)aaT>aaC	p.N2708N	RELN_ENST00000343529.5_Silent_p.N2708N|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Silent_p.N2708N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2708					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCAGTGCTCATTCACTTAAA	0.353																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0			7											81	69	73					7																	103151448		2203	4300	6503	102938684	SO:0001819	synonymous_variant	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8124T>C	7.37:g.103151448A>G		117	0	0					102938684	110	36.31	65	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	HMMPfam_Reeler,HMMSmart_EGF,superfamily_Sialidase,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196	p.N2708	ENST00000428762.1	37	c.8124	CCDS47680.1	7																																																																																			-	superfamily_Sialidase		0.353	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	protein_coding	OTTHUMT00000348148.1	A	NM_005045		102938684	-1	no_errors	NM_005045.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	G	G	103151448	A	G	103151448	2	3	4	1	0	0	0	0	0	0	0	1	13220	214	8	3		3	RELN	7	103151448	Silent	SNP	A	TCGA-AB-2805-03B-01W-0728-08		103151448	55987215	6	40											
DNAI1	27019	genome.wustl.edu	37	9	34506776	34506776	+	Silent	SNP	C	C	T	rs376177487		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr9:34506776C>T	ENST00000242317.4	+	13	1386	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	405					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCCACTATGACGGCAACGTGG	0.587									Kartagener syndrome																													dbGAP											0			9						T		1,4405	2.1+/-5.4	0,1,2202	87	72	77		1215	-5.9	0.8	9		77	0,8600		0,0,4300	no	coding-synonymous	DNAI1	NM_012144.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		405/700	34506776	1,13005	2203	4300	6503	34496776	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1215C>T	9.37:g.34506776C>T		149	0	0					34496776	92	43.71	73	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Silent	SNP	HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.D405	ENST00000242317.4	37	c.1215	CCDS6557.1	9																																																																																			-	HMMSmart_WD40,superfamily_WD40_like		0.587	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	protein_coding	OTTHUMT00000052192.1	C			34496776	1	no_errors	NM_012144.2	genbank	human	reviewed	54_36p	silent	SNP	0.604	T	T	34506776	C	T	34506776	2	4	4	1	0	0	0	0	0	0	0	1	4609	535	19	1		1	DNAI1	9	34506776	Silent	SNP	C	TCGA-AB-2805-03B-01W-0728-08		34506776	106706655	7	41											
TNC	3371	genome.wustl.edu	37	9	117798422	117798422	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr9:117798422T>C	ENST00000350763.4	-	21	6022	c.5611A>G	c.(5611-5613)Aaa>Gaa	p.K1871E	TNC_ENST00000542877.1_Missense_Mutation_p.K1508E|TNC_ENST00000535648.1_Missense_Mutation_p.K1416E|TNC_ENST00000537320.1_Missense_Mutation_p.K1234E|TNC_ENST00000340094.3_Missense_Mutation_p.K1507E|TNC_ENST00000345230.3_Missense_Mutation_p.K1234E|TNC_ENST00000423613.2_Missense_Mutation_p.K1598E|TNC_ENST00000341037.4_Missense_Mutation_p.K1689E|TNC_ENST00000346706.3_Missense_Mutation_p.K1325E	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1871	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGGGGCCCTTTCTCTGCAAAG	0.552																																						dbGAP											0			9											164	146	152					9																	117798422		2203	4300	6503	116838243	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5611A>G	9.37:g.117798422T>C	ENSP00000265131:p.Lys1871Glu	475	1.45	7					116838243	293	47.12	262	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_EGF,HMMSmart_EGF,superfamily_FN_III-like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2	p.K1871E	ENST00000350763.4	37	c.5611	CCDS6811.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.54|13.54	2.268732|2.268732	0.40095|0.40095	.|.	.|.	ENSG00000041982|ENSG00000041982	ENST00000544972|ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T|T;T;T;T;T;T;T;T;T	0.57436|0.53206	0.4|0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.38|5.38	4.23|4.23	0.50019|0.50019	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.169985	.|0.52532	.|D	.|0.000069	T|T	0.62925|0.62925	0.2468|0.2468	M|M	0.84219|0.84219	2.685|2.685	0.09310|0.09310	N|N	0.999999|0.999999	.|D;P	.|0.56035	.|0.974;0.639	.|P;P	.|0.55222	.|0.771;0.595	T|T	0.58526|0.58526	-0.7621|-0.7621	7|10	0.51188|0.39692	T|T	0.08|0.17	.|.	12.4696|12.4696	0.55779|0.55779	0.0:0.0:0.1402:0.8598|0.0:0.0:0.1402:0.8598	.|.	.|1598;1871	.|E9PC84;P24821	.|.;TENA_HUMAN	G|E	433|1507;1416;1325;1234;1871;1689;1598;1234;1508	ENSP00000445380:E433G|ENSP00000344400:K1507E;ENSP00000438152:K1416E;ENSP00000344555:K1325E;ENSP00000345861:K1234E;ENSP00000265131:K1871E;ENSP00000339553:K1689E;ENSP00000411406:K1598E;ENSP00000443478:K1234E;ENSP00000442242:K1508E	ENSP00000445380:E433G|ENSP00000344400:K1507E	E|K	-|-	2|1	0|0	TNC|TNC	116838243|116838243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	3.909000|3.909000	0.56363|0.56363	0.856000|0.856000	0.35383|0.35383	0.533000|0.533000	0.62120|0.62120	GAA|AAA	-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.552	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	T	NM_002160		116838243	-1	no_errors	NM_002160.2	genbank	human	validated	54_36p	missense	SNP	0.977	C	C	117798422	T	C	117798422	3	2	4	1	0	0	0	0	1	0	0	0	16267	1792	62	3	1026	3	TNC	9	117798422	Missense_Mutation	SNP	T	TCGA-AB-2805-03B-01W-0728-08	83291646	117798422	23415009	8	42											
CDON	50937	genome.wustl.edu	37	11	125871701	125871701	+	Missense_Mutation	SNP	C	C	T	rs139323558		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr11:125871701C>T	ENST00000392693.3	-	11	2198	c.2071G>A	c.(2071-2073)Gtg>Atg	p.V691M	CDON_ENST00000531738.1_Missense_Mutation_p.V68M|CDON_ENST00000263577.7_Missense_Mutation_p.V691M	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	691			V -> M (in HPE11). {ECO:0000269|PubMed:21802063}.		anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGGATGCCCACGGGTGGAGAG	0.403																																						dbGAP											0			11						C	MET/VAL	0,4402		0,0,2201	123	122	122		2071	-1.9	0	11	dbSNP_134	122	3,8595	3.0+/-9.4	0,3,4296	no	missense	CDON	NM_016952.4	21	0,3,6497	TT,TC,CC		0.0349,0.0,0.0231	benign	691/1265	125871701	3,12997	2201	4299	6500	125376911	SO:0001583	missense	0			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17104	protein-coding gene	gene with protein product	"cell adhesion molecule-related/down-regulated by oncogenes"	608707	"Cdon homolog (mouse)"			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2071G>A	11.37:g.125871701C>T	ENSP00000376458:p.Val691Met	552	1.07	6					125376911	354	37.8	217	O14631	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.V691M	ENST00000392693.3	37	c.2071	CCDS58192.1	11	.	.	.	.	.	.	.	.	.	.	C	4.695	0.129271	0.08981	0.0	3.49E-4	ENSG00000064309	ENST00000392693;ENST00000531738;ENST00000263577	T;T;T	0.70164	-0.44;0.22;-0.46	5.78	-1.91	0.07641	.	0.747822	0.11818	N	0.526509	T	0.38957	0.1060	N	0.11560	0.145	0.09310	N	1	B;B;B	0.28470	0.064;0.213;0.027	B;B;B	0.26614	0.015;0.071;0.018	T	0.17684	-1.0361	10	0.30078	T	0.28	-0.2451	5.0358	0.14434	0.221:0.3318:0.0:0.4472	.	691;691;68	Q4KMG0;Q4KMG0-2;E9PN78	CDON_HUMAN;.;.	M	691;68;691	ENSP00000376458:V691M;ENSP00000432901:V68M;ENSP00000263577:V691M	ENSP00000263577:V691M	V	-	1	0	CDON	125376911	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	-0.081000	0.11321	-0.538000	0.06281	-0.857000	0.03018	GTG	-	NULL		0.403	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	protein_coding	OTTHUMT00000386749.2	C	NM_016952		125376911	-1	no_errors	NM_016952.4	genbank	human	validated	54_36p	missense	SNP	0.118	T	T	125871701	C	T	125871701	3	4	4	1	0	0	0	0	1	0	0	0	3170	536	19	1	1763	1	CDON	11	125871701	Missense_Mutation	SNP	C	TCGA-AB-2805-03B-01W-0728-08		125871701	9134815	9	43											
MTUS2	23281	genome.wustl.edu	37	13	29600513	29600513	+	Missense_Mutation	SNP	G	G	A	rs371733167		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr13:29600513G>A	ENST00000431530.3	+	1	1766	c.1708G>A	c.(1708-1710)Gtg>Atg	p.V570M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	560						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGATGTTAGCGTGTTCGGTAT	0.517																																						dbGAP											0			13						G	MET/VAL	1,4065		0,1,2032	113	115	114		1708	-1.7	0	13		114	0,8406		0,0,4203	no	missense	MTUS2	NM_001033602.2	21	0,1,6235	AA,AG,GG		0.0,0.0246,0.0080	possibly-damaging	570/1380	29600513	1,12471	2033	4203	6236	28498513	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1708G>A	13.37:g.29600513G>A	ENSP00000392057:p.Val570Met	294	0.68	2					28498513	204	38.39	129	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.V570M	ENST00000431530.3	37	c.1708	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	g	12.06	1.823702	0.32237	2.46E-4	0.0	ENSG00000132938	ENST00000431530	T	0.12361	2.69	5.92	-1.74	0.08056	.	0.813733	0.10755	N	0.637863	T	0.07954	0.0199	L	0.44542	1.39	0.09310	N	1	P	0.38167	0.621	B	0.21360	0.034	T	0.27331	-1.0077	9	.	.	.	.	7.3858	0.26882	0.4167:0.1056:0.4777:0.0	.	560	Q5JR59	MTUS2_HUMAN	M	570	ENSP00000392057:V570M	.	V	+	1	0	MTUS2	28498513	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.287000	0.08388	-0.114000	0.11936	-0.140000	0.14226	GTG	-	NULL		0.517	MTUS2-002	KNOWN	basic|CCDS	protein_coding	KIAA0774	protein_coding	OTTHUMT00000044336.3	G	XM_166270		28498513	1	no_errors	NM_001033602.2	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	29600513	G	A	29600513	3	1	4	1	0	0	0	0	1	0	0	0	9966	1145	40	1	1710	1	MTUS2	13	29600513	Missense_Mutation	SNP	G	TCGA-AB-2805-03B-01W-0728-08		29600513	85569365	10	44											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|IDH2_ENST00000559482.1_Intron	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	103	103					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	114	2.56	3		111	47.89	102	88432938	93	42.68	70	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	T	90631934	C	T	90631934	3	4	4	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2805-03B-01W-0728-08		90631934	11899458	11	45											
TCEB3B	51224	genome.wustl.edu	37	18	44561077	44561077	+	Missense_Mutation	SNP	C	C	T	rs149522210		TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr18:44561077C>T	ENST00000332567.4	-	1	911	c.559G>A	c.(559-561)Gct>Act	p.A187T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	187					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGGGCGCAGCGGGCTCAGGG	0.692																																						dbGAP											0			18						C	THR/ALA,	0,4368		0,0,2184	25	30	28		559,	-1.5	0	18	dbSNP_134	28	2,8558		0,2,4278	no	missense,intron	TCEB3B,KATNAL2	NM_016427.2,NM_031303.2	58,	0,2,6462	TT,TC,CC		0.0234,0.0,0.0155	possibly-damaging,	187/754,	44561077	2,12926	2184	4280	6464	42815075	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"transcription elongation factor (SIII) elongin A2", "elongin A2"	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.559G>A	18.37:g.44561077C>T	ENSP00000331302:p.Ala187Thr	6	0	0					42815075	4	61.54	8	Q9P2V9	Missense_Mutation	SNP	HMMSmart_TFS2N,HMMPfam_Elongin_A,HMMPfam_TFIIS	p.A187T	ENST00000332567.4	37	c.559	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	2.704	-0.270262	0.05716	0.0	2.34E-4	ENSG00000206181	ENST00000332567	T	0.06687	3.27	1.35	-1.55	0.08558	.	2.801650	0.02300	N	0.071111	T	0.05318	0.0141	L	0.36672	1.1	0.09310	N	1	P	0.36733	0.567	B	0.22753	0.041	T	0.34527	-0.9825	10	0.16896	T	0.51	0.2097	4.5325	0.12011	0.0:0.5059:0.0:0.4941	.	187	Q8IYF1	ELOA2_HUMAN	T	187	ENSP00000331302:A187T	ENSP00000331302:A187T	A	-	1	0	TCEB3B	42815075	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.651000	0.05372	-0.455000	0.07054	-0.498000	0.04607	GCT	-	NULL		0.692	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	protein_coding	OTTHUMT00000255900.1	C	NM_016427		42815075	-1	no_errors	NM_016427.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	44561077	C	T	44561077	3	4	4	1	0	0	0	0	1	0	0	0	15679	768	27	1	1706	1	TCEB3B	18	44561077	Missense_Mutation	SNP	C	TCGA-AB-2805-03B-01W-0728-08		44561077	33516171	12	46											
FPR1	2357	genome.wustl.edu	37	19	52249273	52249273	+	Silent	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr19:52249273G>A	ENST00000595042.1	-	3	1116	c.975C>T	c.(973-975)acC>acT	p.T325T	FPR1_ENST00000304748.4_Silent_p.T325T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	325					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TTGAGTCCTCGGTCAGGGCCC	0.567																																						dbGAP											0			19											132	126	128					19																	52249273		2203	4300	6503	56941085	SO:0001819	synonymous_variant	0			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"GPCR / Class A : Formyl peptide receptors"	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.975C>T	19.37:g.52249273G>A		573	0	0		44	50.56	45	56941085	275	39.04	178	Q14939|Q7Z6A4|Q86U52|Q9NS48	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.T325	ENST00000595042.1	37	c.975	CCDS12839.1	19																																																																																			-	superfamily_Family A G protein-coupled receptor-like		0.567	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR1	protein_coding	OTTHUMT00000466905.1	G	NM_002029		56941085	-1	no_errors	NM_002029.3	genbank	human	validated	54_36p	silent	SNP	0.875	A	A	52249273	G	A	52249273	2	1	4	1	0	0	0	0	0	0	0	1	6038	1103	39	1		1	FPR1	19	52249273	Silent	SNP	G	TCGA-AB-2805-03B-01W-0728-08		52249273	6879710	13	47											
RUNX1	861	genome.wustl.edu	37	21	36231783	36231783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr21:36231783G>A	ENST00000344691.4	-	3	2097	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R189*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R201*|RUNX1_ENST00000486278.2_Nonsense_Mutation_p.R177*|RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R201*|RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R174*|RUNX1_ENST00000358356.5_Nonsense_Mutation_p.R174*	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.R201*(5)|p.R201G(1)		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						CGAGGTTCTCGGGGCCCATCC	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	6	Substitution - Nonsense(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(5)|large_intestine(1)	21	GRCh37	CM992141	RUNX1	M							274	240	251					21																	36231783		2203	4300	6503	35153653	SO:0001587	stop_gained	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.520C>T	21.37:g.36231783G>A	ENSP00000340690:p.Arg174*	190	0.52	1		141	51.88	152	35153653	117	39.69	77	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R201*	ENST00000344691.4	37	c.601	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.081424	0.98643	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7194	12.147	0.54028	0.0:0.0:0.8085:0.1914	.	.	.	.	X	174;201;201;189;174;177;174;189;177	.	ENSP00000300305:R201X	R	-	1	2	RUNX1	35153653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.798000	0.47884	1.088000	0.41272	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	G			35153653	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	36231783	G	A	36231783	4	1	4	1	0	0	0	0	0	1	0	0	13746	1124	39	1	890	1	RUNX1	21	36231783	Nonsense_Mutation	SNP	G	TCGA-AB-2805-03B-01W-0728-08		36231783	11898112	14	48											
RUNX1	861	genome.wustl.edu	37	21	36252939	36252940	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2805-03B-01W-0728-08	TCGA-AB-2805-11B-01W-0728-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	722c3b06-dbea-4adc-8a7e-49f430211f6e	48eef5ef-c9dc-4c63-b2cd-1cec1dac4098	g.chr21:36252939_36252940insG	ENST00000344691.4	-	2	1918_1919	c.341_342insC	c.(340-342)tcgfs	p.S114fs	RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.S129fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.S141fs|RUNX1_ENST00000486278.2_Frame_Shift_Ins_p.S117fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.S141fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.S114fs|RUNX1_ENST00000358356.5_Frame_Shift_Ins_p.S114fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	114	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.S141*(2)|p.S141L(1)|p.S141fs*4(1)|p.A142fs*5(1)|p.A142fs*3(1)|p.A142fs*8(1)		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						TCAGCTCAGCCGAGTAGTTTTC	0.495			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	7	Insertion - Frameshift(2)|Substitution - Nonsense(2)|Substitution - Missense(1)|Deletion - Frameshift(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(7)	21																																								35174810	SO:0001589	frameshift_variant	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.342dupC	21.37:g.36252940_36252940dupG	ENSP00000340690:p.Ser114fs	91	0	0		49	33.78	25	35174809	64	34.69	34	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.A142fs	ENST00000344691.4	37	c.423_422	CCDS42922.1	21																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.495	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	-			35174810	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.921:1.000	G	G	36252940	-	G	36252939	7	5	4	1	0	1	1	0	0	0	0	0	13746	639	23	0	1072	0	RUNX1	21	36252939	Frame_Shift_Ins	INS	-	TCGA-AB-2805-03B-01W-0728-08	21156	36252939	11876956	15	49											
ZNF687	57592	genome.wustl.edu	37	1	151260427	151260427	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr1:151260427C>T	ENST00000368879.2	+	2	1758	c.1660C>T	c.(1660-1662)Cgt>Tgt	p.R554C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCACTATGACCGTCGGAGCAT	0.632																																						dbGAP											0			1											64	59	61					1																	151260427		2203	4300	6503	149527051	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1660C>T	1.37:g.151260427C>T	ENSP00000357874:p.Arg554Cys	27	0	0		22	43.59	17	149527051	42	41.1	30	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R554C	ENST00000368879.2	37	c.1660		1	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544420	0.65198	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.46451	0.87;0.87;0.87	5.3	4.39	0.52855	.	0.000000	0.35739	N	0.003019	T	0.43100	0.1232	M	0.67625	2.065	0.80722	D	1	D;D;D	0.65815	0.99;0.995;0.987	P;P;P	0.53006	0.686;0.715;0.566	T	0.50021	-0.8876	10	0.62326	D	0.03	.	14.361	0.66771	0.1495:0.8505:0.0:0.0	.	554;554;554	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	C	554	ENSP00000336620:R554C;ENSP00000319829:R554C;ENSP00000357874:R554C	ENSP00000319829:R554C	R	+	1	0	ZNF687	149527051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.458000	0.45014	1.453000	0.47775	0.561000	0.74099	CGT	-	superfamily_C2H2 and C2HC zinc fingers		0.632	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	protein_coding		C	NM_020832		149527051	1	no_errors	NM_020832.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	151260427	C	T	151260427	3	4	5	1	0	0	0	0	1	0	0	0	18089	652	23	1	1662	1	ZNF687	1	151260427	Missense_Mutation	SNP	C	TCGA-AB-2806-03B-01W-0728-08		151260427	97990194	1	50											
FBXO11	80204	genome.wustl.edu	37	2	48036754	48036755	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	-	-	-	GA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr2:48036754_48036755insGA	ENST00000403359.3	-	20	2502_2503	c.2430_2431insTC	c.(2428-2433)gttaatfs	p.N811fs	FBXO11_ENST00000434523.2_Frame_Shift_Ins_p.N235fs|FBXO11_ENST00000405808.1_5'Flank|FBXO11_ENST00000402508.1_Frame_Shift_Ins_p.N727fs|MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000316377.4_Frame_Shift_Ins_p.N727fs	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	811					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTGTCACATTAACACCAGATG	0.342			"Mis, F, D"		DLBCL																																	dbGAP		Rec	yes		2	2p16.3	80204	F-box protein 11		L	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2																																								47890259	SO:0001589	frameshift_variant	0			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"Ubiquitin protein ligase E3 component n-recognins", "F-boxes /  "other""	13590	protein-coding gene	gene with protein product	"ubiquitin protein ligase E3 component n-recognin 6"	607871	"F-box only protein 11"			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2430_2431insTC	2.37:g.48036754_48036755insGA	ENSP00000384823:p.Asn811fs	42	0	0		39	26.42	14	47890258	156	36.84	91	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Frame_Shift_Ins	INS	HMMPfam_F-box,HMMSmart_FBOX,HMMPfam_zf-UBR,HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like,superfamily_SSF81383	p.N726fs	ENST00000403359.3	37	c.2179_2178	CCDS54357.1	2																																																																																			-	HMMSmart_PbH1,HMMSmart_CASH,superfamily_Pectin_lyas_like,superfamily_SSF81383		0.342	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	protein_coding	OTTHUMT00000251181.3	-	NM_012167, NM_018693, NM_025133		47890259	-1	no_errors	NM_025133.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	GA	GA	48036755	-	GA	48036754	7	5	5	1	0	1	1	0	0	0	0	0	5727	1754	61	0	368	0	FBXO11	2	48036754	Frame_Shift_Ins	INS	-	TCGA-AB-2806-03B-01W-0728-08		48036754	195162619	2	51											
NRXN1	9378	genome.wustl.edu	37	2	50758395	50758395	+	Missense_Mutation	SNP	C	C	T	rs199548487		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr2:50758395C>T	ENST00000406316.2	-	11	3793	c.2317G>A	c.(2317-2319)Gca>Aca	p.A773T	NRXN1_ENST00000404971.1_Missense_Mutation_p.A813T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A773T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A773T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A765T|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.A765T	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	773	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACACGTCCTGCGTCTAGCTCC	0.478																																						dbGAP											0			2											65	70	68					2																	50758395		2043	4219	6262	50611899	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2317G>A	2.37:g.50758395C>T	ENSP00000384311:p.Ala773Thr	30	0	0					50611899	119	42.31	88	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00294,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,superfamily_EGF/Laminin	p.A773T	ENST00000406316.2	37	c.2317	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786873	0.70337	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.76	5.76	0.90799	.	0.157311	0.56097	D	0.000029	T	0.72431	0.3459	L	0.41824	1.3	0.35312	D	0.783985	P;D;P	0.57899	0.878;0.981;0.954	B;B;B	0.41571	0.199;0.36;0.307	T	0.76027	-0.3109	10	0.29301	T	0.29	.	20.3316	0.98722	0.0:1.0:0.0:0.0	.	813;773;765	Q9ULB1-3;F8WB18;A7E294	.;.;.	T	813;773;765;773;814;765;773	ENSP00000385142:A813T;ENSP00000384311:A773T;ENSP00000434015:A765T;ENSP00000385017:A773T;ENSP00000385434:A765T;ENSP00000385681:A773T	ENSP00000385017:A773T	A	-	1	0	NRXN1	50611899	1.000000	0.71417	0.982000	0.44146	0.958000	0.62258	3.276000	0.51646	2.871000	0.98454	0.655000	0.94253	GCA	-	HMMSmart_SM00282,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2		0.478	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	C			50611899	-1	no_errors	NM_004801.1	genbank	human	reviewed	54_36p	missense	SNP	0.977	T	T	50758395	C	T	50758395	3	4	5	1	0	0	0	0	1	0	0	0	10665	768	27	1	2521	1	NRXN1	2	50758395	Missense_Mutation	SNP	C	TCGA-AB-2806-03B-01W-0728-08	2721641	50758395	192440978	3	52											
GIGYF2	26058	genome.wustl.edu	37	2	233681679	233681680	+	Frame_Shift_Ins	INS	-	-	CGGTAGGACGGGTC			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	-	-	-	CGGTAGGACGGGTC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr2:233681679_233681680insCGGTAGGACGGGTC	ENST00000409547.1	+	22	2618_2619	c.2307_2308insCGGTAGGACGGGTC	c.(2308-2310)cggfs	p.-770fs	GIGYF2_ENST00000373566.3_Frame_Shift_Ins_p.-792fs|GIGYF2_ENST00000409480.1_Frame_Shift_Ins_p.-792fs|GIGYF2_ENST00000373563.4_Frame_Shift_Ins_p.-770fs|GIGYF2_ENST00000409451.3_Frame_Shift_Ins_p.-791fs|GIGYF2_ENST00000409196.3_Frame_Shift_Ins_p.-764fs|GIGYF2_ENST00000452341.2_Frame_Shift_Ins_p.-601fs	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AGGAAATTCTTCGGCGACAGCA	0.485																																						dbGAP											0			2																																								233389924	SO:0001589	frameshift_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	Exception_encountered	2.37:g.233681679_233681680insCGGTAGGACGGGTC	ENSP00000386537:p.Arg770fs								233389923				A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Frame_Shift_Ins	INS	HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF	p.R791fs	ENST00000409547.1	37	c.2370_2371	CCDS33401.1	2																																																																																			-	NULL		0.485	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	protein_coding	OTTHUMT00000330316.2	-	NM_001103146		233389924	1	no_errors	NM_001103147.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.997:0.997	CGGTAGGACGGGTC	CGGTAGGACGGGTC	233681680	-	CGGTAGGACGGGTC	233681679	7	5	5	1	0	1	1	0	0	0	0	0	6378	1770	62	0	2447	0	GIGYF2	2	233681679	Frame_Shift_Ins	INS	-	TCGA-AB-2806-03B-01W-0728-08	182923284	233681679	9517694	4	53											
HCN1	348980	genome.wustl.edu	37	5	45262184	45262184	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr5:45262184G>T	ENST00000303230.4	-	8	2569	c.2512C>A	c.(2512-2514)Cgc>Agc	p.R838S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	838					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGGGTGACGCGCTGCGGGACA	0.672																																						dbGAP											0			5											38	43	42					5																	45262184		2203	4300	6503	45297941	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2512C>A	5.37:g.45262184G>T	ENSP00000307342:p.Arg838Ser	9	0	0					45297941	27	47.06	24		Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324	p.R838S	ENST00000303230.4	37	c.2512	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	g	10.30	1.312169	0.23821	.	.	ENSG00000164588	ENST00000303230	D	0.98264	-4.83	4.91	1.32	0.21799	.	0.000000	0.53938	D	0.000056	D	0.97371	0.9140	L	0.34521	1.04	0.42662	D	0.993481	D	0.63880	0.993	D	0.74023	0.982	D	0.94674	0.7859	10	0.14252	T	0.57	.	14.1859	0.65605	0.0:0.0:0.408:0.592	.	838	O60741	HCN1_HUMAN	S	838	ENSP00000307342:R838S	ENSP00000307342:R838S	R	-	1	0	HCN1	45297941	0.415000	0.25416	0.997000	0.53966	0.947000	0.59692	0.188000	0.17018	0.492000	0.27815	0.651000	0.88453	CGC	-	NULL		0.672	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	protein_coding	OTTHUMT00000253847.1	G	NM_021072		45297941	-1	no_errors	NM_021072.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	45262184	G	T	45262184	3	4	5	1	0	0	0	0	1	0	0	0	6996	1087	38	4	164	4	HCN1	5	45262184	Missense_Mutation	SNP	G	TCGA-AB-2806-03B-01W-0728-08		45262184	135653076	5	54											
OPRM1	4988	genome.wustl.edu	37	6	154411016	154411016	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr6:154411016G>T	ENST00000330432.7	+	2	583	c.346G>T	c.(346-348)Gat>Tat	p.D116Y	OPRM1_ENST00000524163.1_Missense_Mutation_p.D116Y|OPRM1_ENST00000428397.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000522236.1_Missense_Mutation_p.D16Y|OPRM1_ENST00000414028.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000435918.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000518759.1_Missense_Mutation_p.D35Y|OPRM1_ENST00000452687.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000419506.2_Missense_Mutation_p.D116Y|OPRM1_ENST00000434900.2_Missense_Mutation_p.D209Y|OPRM1_ENST00000522555.1_Missense_Mutation_p.D16Y|OPRM1_ENST00000520708.1_Missense_Mutation_p.D16Y|OPRM1_ENST00000360422.4_Missense_Mutation_p.D116Y|OPRM1_ENST00000229768.5_Missense_Mutation_p.D116Y|OPRM1_ENST00000337049.4_Missense_Mutation_p.D116Y	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	116					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TGCTCTGGCAGATGCCTTAGC	0.443																																						dbGAP											0			6											127	120	122					6																	154411016		2049	4244	6293	154452709	SO:0001583	missense	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"GPCR / Class A : Opioid receptors"	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.346G>T	6.37:g.154411016G>T	ENSP00000328264:p.Asp116Tyr	57	0	0					154452709	132	34.33	69	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.D116Y	ENST00000330432.7	37	c.346	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326815	0.81690	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97167	0.9074	H	0.99026	4.405	0.80722	D	1	D;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;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999;0.999;0.999;1.0;0.999;1.0;0.999;0.999;0.999	D	0.98619	1.0666	10	0.87932	D	0	.	19.4964	0.95075	0.0:0.0:1.0:0.0	.	116;116;116;116;209;35;116;16;116;116;116;116;116	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;P35372-6;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	Y	209;16;35;116;116;116;116;116;116;116;116;116;116;16;16	ENSP00000394624:D209Y;ENSP00000430876:D16Y;ENSP00000430260:D35Y;ENSP00000328264:D116Y;ENSP00000353598:D116Y;ENSP00000411903:D116Y;ENSP00000410497:D116Y;ENSP00000229768:D116Y;ENSP00000403549:D116Y;ENSP00000430097:D116Y;ENSP00000399359:D116Y;ENSP00000413752:D116Y;ENSP00000338381:D116Y;ENSP00000429719:D16Y;ENSP00000429373:D16Y	ENSP00000229768:D116Y	D	+	1	0	OPRM1	154452709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.610000	0.88304	0.655000	0.94253	GAT	-	HMMPfam_7tm_1,superfamily_SSF81321		0.443	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154452709	1	no_errors	NM_001008505.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	154411016	G	T	154411016	3	4	5	1	0	0	0	0	1	0	0	0	10887	942	33	4	686	4	OPRM1	6	154411016	Missense_Mutation	SNP	G	TCGA-AB-2806-03B-01W-0728-08		154411016	16704051	6	55											
SCRIB	23513	genome.wustl.edu	37	8	144891739	144891739	+	Silent	SNP	G	G	C	rs201891728		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr8:144891739G>C	ENST00000320476.3	-	14	1686	c.1680C>G	c.(1678-1680)gcC>gcG	p.A560A	SCRIB_ENST00000377533.3_Silent_p.A479A|SCRIB_ENST00000356994.2_Silent_p.A560A	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	560	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGTCCTCTTCGGCGTCTTCCT	0.697																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0			8											78	75	76					8																	144891739		2203	4300	6503	144963727	SO:0001819	synonymous_variant	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"scribbled homolog (Drosophila)"			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1680C>G	8.37:g.144891739G>C		21	0	0		25	26.47	9	144963727	22	26.67	8	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Silent	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_RNI-like	p.A560	ENST00000320476.3	37	c.1680	CCDS6411.1	8																																																																																			-	NULL		0.697	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	protein_coding	OTTHUMT00000382215.1	G	NM_015356		144963727	-1	no_errors	NM_182706.3	genbank	human	validated	54_36p	silent	SNP	0.044	C	C	144891739	G	C	144891739	2	2	5	1	0	0	0	0	0	0	0	1	13937	1103	39	4		4	SCRIB	8	144891739	Silent	SNP	G	TCGA-AB-2806-03B-01W-0728-08		144891739	1472283	7	56											
C9orf78	51759	genome.wustl.edu	37	9	132590500	132590500	+	Missense_Mutation	SNP	G	G	C	rs147768922	byFrequency	TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr9:132590500G>C	ENST00000372447.3	-	9	863	c.810C>G	c.(808-810)aaC>aaG	p.N270K	C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	270						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TTGCCTTCTCGTTAGCAGGAC	0.478																																						dbGAP											0			9											197	171	180					9																	132590500		2203	4300	6503	131630321	SO:0001583	missense	0			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"Hepatocellular carcinoma-associated antigen 59"					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.810C>G	9.37:g.132590500G>C	ENSP00000361524:p.Asn270Lys	25	0	0		55	43.88	43	131630321	86	44.59	70	B3KPX8|Q8WVU6|Q9NT39	Missense_Mutation	SNP	HMMPfam_Hep_59	p.N270K	ENST00000372447.3	37	c.810	CCDS6931.1	9	.	.	.	.	.	.	.	.	.	.	G	8.785	0.929222	0.18131	.	.	ENSG00000136819	ENST00000372447	T	0.42131	0.98	5.56	-11.1	0.00147	.	0.000000	0.85682	D	0.000000	T	0.17874	0.0429	L	0.35414	1.06	0.43531	D	0.995818	P	0.35155	0.487	B	0.27608	0.081	T	0.51849	-0.8653	10	0.05620	T	0.96	.	15.5528	0.76167	0.7452:0.0:0.1791:0.0757	.	270	Q9NZ63	CI078_HUMAN	K	270	ENSP00000361524:N270K	ENSP00000361524:N270K	N	-	3	2	C9orf78	131630321	0.075000	0.21258	0.304000	0.25085	0.678000	0.39670	-0.491000	0.06474	-2.421000	0.00563	-1.087000	0.02190	AAC	-	NULL		0.478	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	protein_coding	OTTHUMT00000054625.1	G	NM_016520		131630321	-1	no_errors	NM_016520.2	genbank	human	validated	54_36p	missense	SNP	0.973	C	C	132590500	G	C	132590500	3	2	5	1	0	0	0	0	1	0	0	0	2496	1136	40	4	63	4	C9orf78	9	132590500	Missense_Mutation	SNP	G	TCGA-AB-2806-03B-01W-0728-08		132590500	8622931	8	57											
KIAA1217	56243	genome.wustl.edu	37	10	24762592	24762592	+	Missense_Mutation	SNP	G	G	A	rs368870981		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr10:24762592G>A	ENST00000376454.3	+	6	1312	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	KIAA1217_ENST00000396446.1_Missense_Mutation_p.A146T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A146T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A428T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A146T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.A348T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A349T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A428T|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A146T	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	428					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCACCGCACCGCCATCCGGTC	0.498																																						dbGAP											0			10						G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	78	69	72		1042,1282,1282	5.6	0.3	10		72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIAA1217	NM_001098500.1,NM_001098501.1,NM_019590.3	58,58,58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	348/1265,428/1310,428/1944	24762592	1,13005	2203	4300	6503	24802598	SO:0001583	missense	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"sickle tail"					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1282G>A	10.37:g.24762592G>A	ENSP00000365637:p.Ala428Thr	47	0	0		1	75	3	24802598	132	36.36	76	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	NULL	p.A428T	ENST00000376454.3	37	c.1282	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268777	0.40095	0.0	1.16E-4	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.55	5.55	0.83447	.	0.050373	0.85682	D	0.000000	T	0.57829	0.2080	L	0.47716	1.5	0.41231	D	0.986579	P;B;P;B;D;D;D;P	0.89917	0.88;0.349;0.937;0.314;0.99;0.972;1.0;0.48	B;B;B;B;P;P;D;B	0.87578	0.173;0.12;0.281;0.144;0.496;0.496;0.998;0.071	T	0.56505	-0.7968	10	0.39692	T	0.17	.	8.7702	0.34728	0.0753:0.0:0.774:0.1507	.	428;428;146;146;146;146;428;428	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	T	348;428;428;146;428;428;278;349;146;146;146;146;146	ENSP00000365645:A348T;ENSP00000365639:A428T;ENSP00000392625:A428T;ENSP00000365637:A428T;ENSP00000365635:A428T;ENSP00000404798:A278T;ENSP00000389680:A349T;ENSP00000302343:A146T;ENSP00000379722:A146T;ENSP00000365634:A146T;ENSP00000379723:A146T	ENSP00000302343:A146T	A	+	1	0	KIAA1217	24802598	0.999000	0.42202	0.297000	0.24988	0.682000	0.39822	3.152000	0.50677	2.622000	0.88805	0.655000	0.94253	GCC	-	NULL		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	protein_coding	OTTHUMT00000047223.2	G	NM_019590		24802598	1	no_errors	NM_019590.1	genbank	human	validated	54_36p	missense	SNP	0.889	A	A	24762592	G	A	24762592	3	1	5	1	0	0	0	0	1	0	0	0	8216	1087	38	1	1304	1	KIAA1217	10	24762592	Missense_Mutation	SNP	G	TCGA-AB-2806-03B-01W-0728-08		24762592	110772155	9	58											
PLCE1	51196	genome.wustl.edu	37	10	95791191	95791191	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr10:95791191G>T	ENST00000371380.3	+	1	623	c.388G>T	c.(388-390)Gct>Tct	p.A130S	PLCE1_ENST00000260766.3_Missense_Mutation_p.A130S			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	130					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)				CAACTCTGTTGCTGAGGAAGA	0.408																																						dbGAP											0			10											71	66	67					10																	95791191		1876	4092	5968	95781181	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.388G>T	10.37:g.95791191G>T	ENSP00000360431:p.Ala130Ser	56	0	0					95781181	143	39	94	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.A130S	ENST00000371380.3	37	c.388	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	0.983	-0.696485	0.03279	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.70164	-0.46;-0.46	4.74	-6.94	0.01633	.	1.817120	0.03056	N	0.155316	T	0.37128	0.0992	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.11690	-1.0577	10	0.23302	T	0.38	.	2.2095	0.03945	0.2129:0.1973:0.3941:0.1956	.	130;130	B7ZM61;Q9P212	.;PLCE1_HUMAN	S	130	ENSP00000260766:A130S;ENSP00000360431:A130S	ENSP00000260766:A130S	A	+	1	0	PLCE1	95781181	0.000000	0.05858	0.003000	0.11579	0.095000	0.18619	-1.184000	0.03076	-0.823000	0.04301	-0.253000	0.11424	GCT	-	NULL		0.408	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	G	NM_016341		95781181	1	no_errors	NM_016341.3	genbank	human	validated	54_36p	missense	SNP	0.089	T	T	95791191	G	T	95791191	3	4	5	1	0	0	0	0	1	0	0	0	12034	1319	46	4	390	4	PLCE1	10	95791191	Missense_Mutation	SNP	G	TCGA-AB-2806-03B-01W-0728-08	71028599	95791191	39743556	10	59											
OR4B1	119765	genome.wustl.edu	37	11	48238468	48238468	+	Missense_Mutation	SNP	C	C	T	rs145509417	byFrequency	TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr11:48238468C>T	ENST00000309562.2	+	1	125	c.107C>T	c.(106-108)aCg>aTg	p.T36M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TACCTTGCCACGGTGGTGGGC	0.502																																						dbGAP											0			11						C	MET/THR	2,4400	4.2+/-10.8	0,2,2199	238	196	210		107	2.5	0.6	11	dbSNP_134	210	7,8589	5.7+/-21.5	0,7,4291	yes	missense	OR4B1	NM_001005470.1	81	0,9,6490	TT,TC,CC		0.0814,0.0454,0.0692	probably-damaging	36/310	48238468	9,12989	2201	4298	6499	48195044	SO:0001583	missense	0			AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"GPCR / Class A : Olfactory receptors"	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.107C>T	11.37:g.48238468C>T	ENSP00000311605:p.Thr36Met	90	0	0					48195044	236	42.51	176	Q6IF75|Q96R64	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.T36M	ENST00000309562.2	37	c.107	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	C	11.31	1.601094	0.28534	4.54E-4	8.14E-4	ENSG00000175619	ENST00000309562	T	0.00504	6.94	5.4	2.55	0.30701	.	0.000000	0.56097	D	0.000035	T	0.02418	0.0074	H	0.95402	3.665	0.32894	D	0.512243	D	0.89917	1.0	D	0.91635	0.999	T	0.03043	-1.1079	10	0.87932	D	0	.	8.545	0.33415	0.0:0.747:0.0:0.253	.	36	Q8NGF8	OR4B1_HUMAN	M	36	ENSP00000311605:T36M	ENSP00000311605:T36M	T	+	2	0	OR4B1	48195044	0.095000	0.21747	0.635000	0.29338	0.038000	0.13279	0.605000	0.24179	0.670000	0.31165	-0.528000	0.04320	ACG	-	superfamily_SSF81321		0.502	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	protein_coding	OTTHUMT00000390554.1	C	NM_001005470		48195044	1	no_errors	NM_001005470.1	genbank	human	provisional	54_36p	missense	SNP	0.008	T	T	48238468	C	T	48238468	3	4	5	1	0	0	0	0	1	0	0	0	11044	536	19	1	109	1	OR4B1	11	48238468	Missense_Mutation	SNP	C	TCGA-AB-2806-03B-01W-0728-08		48238468	86768048	11	60											
KDM2B	84678	genome.wustl.edu	37	12	121880386	121880386	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr12:121880386T>C	ENST00000377071.4	-	19	2930	c.2858A>G	c.(2857-2859)gAg>gGg	p.E953G	KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E321G|KDM2B_ENST00000377069.4_Missense_Mutation_p.E884G	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	953					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GTGGTTGagctccttgctcag	0.642																																						dbGAP											0			12											31	35	33					12																	121880386		2145	4271	6416	120364769	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"F-boxes / Leucine-rich repeats", "Chromatin-modifying enzymes / K-demethylases"	13610	protein-coding gene	gene with protein product	"jumonji C domain-containing histone demethylase 1B"	609078	"F-box and leucine-rich repeat protein 10"	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.2858A>G	12.37:g.121880386T>C	ENSP00000366271:p.Glu953Gly	15	0	0		29	35.56	16	120364769	30	35.42	17	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	HMMPfam_F-box,HMMSmart_SM00249,HMMPfam_zf-CXXC,HMMSmart_SM00558,HMMSmart_SM00367,superfamily_FYVE/PHD zinc finger,HMMPfam_JmjC,superfamily_Clavaminate synthase-like,superfamily_RNI-like	p.E953G	ENST00000377071.4	37	c.2858	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263414	0.80358	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.26223	2.06;2.32;1.75	5.69	5.69	0.88448	.	0.323136	0.26598	N	0.023489	T	0.38134	0.1029	L	0.40543	1.245	0.80722	D	1	B;D;P;B	0.58268	0.131;0.982;0.915;0.131	B;P;B;B	0.57152	0.039;0.814;0.164;0.039	T	0.12604	-1.0541	10	0.66056	D	0.02	-31.312	15.9481	0.79809	0.0:0.0:0.0:1.0	.	393;953;884;396	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	G	941;321;884;953;396;956	ENSP00000437821:E321G;ENSP00000366269:E884G;ENSP00000366271:E953G	ENSP00000261824:E956G	E	-	2	0	KDM2B	120364769	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.205000	0.77881	2.153000	0.67306	0.533000	0.62120	GAG	-	NULL		0.642	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL10	protein_coding	OTTHUMT00000402132.2	T	NM_032590		120364769	-1	no_errors	NM_032590.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	121880386	T	C	121880386	3	2	5	1	0	0	0	0	1	0	0	0	8125	1551	54	3	1224	3	KDM2B	12	121880386	Missense_Mutation	SNP	T	TCGA-AB-2806-03B-01W-0728-08		121880386	11971509	12	61											
SMEK1	55671	genome.wustl.edu	37	14	91937204	91937204	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr14:91937204G>C	ENST00000554943.1	-	10	1752	c.1637C>G	c.(1636-1638)tCg>tGg	p.S546W	SMEK1_ENST00000555462.1_Missense_Mutation_p.S307W|SMEK1_ENST00000554684.1_Missense_Mutation_p.S533W|SMEK1_ENST00000428424.2_Missense_Mutation_p.S307W|SMEK1_ENST00000337238.4_Missense_Mutation_p.S533W			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	546					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGCATGCTTCGAGGCCATAAG	0.338																																						dbGAP											0			14											121	122	122					14																	91937204		2203	4300	6503	91006957	SO:0001583	missense	0			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"KIAA2010"	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1637C>G	14.37:g.91937204G>C	ENSP00000450883:p.Ser546Trp	42	0	0		80	44.9	66	91006957	139	39.3	90	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	HMMPfam_DUF625,superfamily_ARM-type_fold,superfamily_SSF50729	p.S533W	ENST00000554943.1	37	c.1598		14	.	.	.	.	.	.	.	.	.	.	G	26.6	4.757332	0.89843	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.46063	1.49;1.49;0.88;1.49;0.88;1.49	5.8	5.8	0.92144	Armadillo-type fold (1);	0.116471	0.64402	D	0.000010	T	0.72486	0.3466	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.993;0.998;1.0	T	0.76656	-0.2879	10	0.72032	D	0.01	-7.7771	20.0586	0.97663	0.0:0.0:1.0:0.0	.	307;546;533	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	W	533;533;307;546;307;533	ENSP00000450864:S533W;ENSP00000337125:S533W;ENSP00000392704:S307W;ENSP00000450883:S546W;ENSP00000450891:S307W;ENSP00000452596:S533W	ENSP00000337125:S533W	S	-	2	0	SMEK1	91006957	1.000000	0.71417	0.970000	0.41538	0.985000	0.73830	9.869000	0.99810	2.741000	0.93983	0.650000	0.86243	TCG	-	superfamily_ARM-type_fold		0.338	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	protein_coding	OTTHUMT00000411665.1	G	NM_032560		91006957	-1	no_errors	NM_032560.4	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	91937204	G	C	91937204	3	2	5	1	0	0	0	0	1	0	0	0	14793	1059	37	4	888	4	SMEK1	14	91937204	Missense_Mutation	SNP	G	TCGA-AB-2806-03B-01W-0728-08		91937204	15412336	13	62											
NPC1	4864	genome.wustl.edu	37	18	21115603	21115603	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr18:21115603C>T	ENST00000269228.5	-	22	3861	c.3307G>A	c.(3307-3309)Ggt>Agt	p.G1103S	NPC1_ENST00000412552.2_Missense_Mutation_p.G785S	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1103					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGGACACACCGAGGTTGAAG	0.537																																						dbGAP											0			18											192	158	169					18																	21115603		2203	4300	6503	19369601	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3307G>A	18.37:g.21115603C>T	ENSP00000269228:p.Gly1103Ser	32	0	0		12	29.41	5	19369601	83	42.07	61	B4DET3|Q9P130	Missense_Mutation	SNP	HMMPfam_Patched,superfamily_SSF82866	p.G1103S	ENST00000269228.5	37	c.3307	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421876	0.25639	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.85339	-1.97;-1.97	5.88	-0.0223	0.13948	.	0.408258	0.32015	N	0.006720	T	0.72020	0.3409	L	0.33485	1.01	0.22500	N	0.999048	B;B	0.17852	0.006;0.024	B;B	0.24006	0.02;0.05	T	0.54721	-0.8251	10	0.23302	T	0.38	-10.9628	4.7124	0.12879	0.3512:0.2373:0.0:0.4114	.	1114;1103	Q59GR1;O15118	.;NPC1_HUMAN	S	1103;785	ENSP00000269228:G1103S;ENSP00000408606:G785S	ENSP00000269228:G1103S	G	-	1	0	NPC1	19369601	0.002000	0.14202	0.761000	0.31378	0.875000	0.50365	-0.558000	0.05978	-0.334000	0.08463	0.655000	0.94253	GGT	-	HMMPfam_Patched,superfamily_SSF82866		0.537	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	protein_coding	OTTHUMT00000254823.2	C	NM_000271		19369601	-1	no_errors	NM_000271.3	genbank	human	validated	54_36p	missense	SNP	0.899	T	T	21115603	C	T	21115603	3	4	5	1	0	0	0	0	1	0	0	0	10570	652	23	1	545	1	NPC1	18	21115603	Missense_Mutation	SNP	C	TCGA-AB-2806-03B-01W-0728-08		21115603	56961645	14	63											
HKR1	284459	genome.wustl.edu	37	19	37854501	37854501	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chr19:37854501G>A	ENST00000324411.4	+	6	2073	c.1804G>A	c.(1804-1806)Gca>Aca	p.A602T	HKR1_ENST00000589392.1_Missense_Mutation_p.A584T|HKR1_ENST00000541583.2_Missense_Mutation_p.A541T|HKR1_ENST00000591471.1_Missense_Mutation_p.A329T|HKR1_ENST00000544914.1_Missense_Mutation_p.A329T|HKR1_ENST00000392153.3_Missense_Mutation_p.A583T|HKR1_ENST00000591134.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	602					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGAGCACACGCAGGGGGGAA	0.532																																						dbGAP											0			19											67	68	68					19																	37854501		2203	4300	6503	42546341	SO:0001583	missense	0			M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"Zinc fingers, C2H2-type", "-"	4928	protein-coding gene	gene with protein product	"oncogene HKR1"	165250	"GLI-Kruppel family member HKR1"			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.1804G>A	19.37:g.37854501G>A	ENSP00000315505:p.Ala602Thr	14	0	0		17	55	22	42546341	63	42.48	48	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A602T	ENST00000324411.4	37	c.1804	CCDS12502.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|G	1.464|1.464	-0.561688|-0.561688	0.03939|0.03939	.|.	.|.	ENSG00000181666|ENSG00000181666	ENST00000542144|ENST00000544914;ENST00000414402;ENST00000392153;ENST00000324411;ENST00000541583	.|T;T;T;T	.|0.73469	.|2.73;-0.75;-0.75;-0.75	2.96|2.96	0.555|0.555	0.17247|0.17247	.|Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|.	.|.	.|.	.|.	.|T	.|0.30355	.|0.0762	N|N	0.00560|0.00560	-1.38|-1.38	0.80722|0.80722	D|D	1|1	.|B;B;B;B	.|0.18013	.|0.005;0.007;0.025;0.001	.|B;B;B;B	.|0.09377	.|0.003;0.004;0.003;0.001	.|T	.|0.43572	.|-0.9383	.|9	.|0.02654	.|T	.|1	.|.	3.4776|3.4776	0.07590|0.07590	0.4232:0.0:0.1737:0.4031|0.4232:0.0:0.1737:0.4031	.|.	.|541;583;602;584	.|Q7Z6E1;P10072-2;P10072;B4DSY3	.|.;.;HKR1_HUMAN;.	.|T	-1|329;381;583;602;541	.|ENSP00000437774:A329T;ENSP00000375994:A583T;ENSP00000315505:A602T;ENSP00000438261:A541T	.|ENSP00000315505:A602T	.|A	+|+	.|1	.|0	HKR1|HKR1	42546341|42546341	0.002000|0.002000	0.14202|0.14202	0.742000|0.742000	0.31022|0.31022	0.751000|0.751000	0.42716|0.42716	0.007000|0.007000	0.13174|0.13174	0.362000|0.362000	0.24319|0.24319	-0.271000|-0.271000	0.10264|0.10264	.|GCA	-	superfamily_C2H2 and C2HC zinc fingers		0.532	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HKR1	protein_coding	OTTHUMT00000458375.1	G	NM_181786		42546341	1	no_errors	NM_181786.2	genbank	human	provisional	54_36p	missense	SNP	0.993	A	A	37854501	G	A	37854501	3	1	5	1	0	0	0	0	1	0	0	0	7194	1087	38	1	1818	1	HKR1	19	37854501	Missense_Mutation	SNP	G	TCGA-AB-2806-03B-01W-0728-08		37854501	21274482	15	64											
KDM6A	7403	genome.wustl.edu	37	X	44918514	44918514	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chrX:44918514C>A	ENST00000377967.4	+	12	1038	c.997C>A	c.(997-999)Cag>Aag	p.Q333K	KDM6A_ENST00000543216.1_Missense_Mutation_p.Q333K|KDM6A_ENST00000382899.4_Missense_Mutation_p.Q333K|KDM6A_ENST00000536777.1_Missense_Mutation_p.Q333K	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	333	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.Q333*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGCAAAATCAGCCCATGGA	0.403			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	10	Whole gene deletion(6)|Substitution - Nonsense(2)|No detectable mRNA/protein(2)	oesophagus(4)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|pancreas(2)	X											79	64	69					X																	44918514		2203	4300	6503	44803458	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.997C>A	X.37:g.44918514C>A	ENSP00000367203:p.Gln333Lys	26	0	0		2	95.24	40	44803458	7	92.71	89	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMSmart_JmjC,HMMPfam_JmjC,HMMSmart_TPR,superfamily_SSF48452	p.Q333K	ENST00000377967.4	37	c.997	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	16.76	3.212089	0.58452	.	.	ENSG00000147050	ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.58060	0.36;0.36;0.79;0.36	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.83483	2.645	0.54753	D	0.999986	P;D;D;D;D	0.67145	0.811;0.994;0.996;0.963;0.996	P;D;D;D;D	0.79108	0.879;0.992;0.989;0.973;0.989	T	0.76291	-0.3013	10	0.41790	T	0.15	-6.7935	18.6299	0.91357	0.0:1.0:0.0:0.0	.	333;333;333;333;333	F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;KDM6A_HUMAN	K	333	ENSP00000367203:Q333K;ENSP00000437405:Q333K;ENSP00000372355:Q333K;ENSP00000443078:Q333K	ENSP00000367203:Q333K	Q	+	1	0	KDM6A	44803458	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.343000	0.79666	0.513000	0.50165	CAG	-	HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452		0.403	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTX	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44803458	1	no_errors	NM_021140.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	44918514	C	A	44918514	3	1	5	1	0	0	0	0	1	0	0	0	8137	827	29	4	1043	4	KDM6A	23	44918514	Missense_Mutation	SNP	C	TCGA-AB-2806-03B-01W-0728-08		44918514	110352046	16	65											
OR13H1	347468	genome.wustl.edu	37	X	130678939	130678939	+	Missense_Mutation	SNP	C	C	T	rs571641755		TCGA-AB-2806-03B-01W-0728-08	TCGA-AB-2806-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1db034eb-18af-4980-bd4a-b93b15bc07a2	18fd295f-1daf-4ceb-9bf8-6b42bf8f56eb	g.chrX:130678939C>T	ENST00000338616.3	+	1	990	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					AGATGTTAAACGGGCAATAAG	0.398																																						dbGAP											0			X											80	76	77					X																	130678939		2201	4292	6493	130506620	SO:0001583	missense	0				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.892C>T	X.37:g.130678939C>T	ENSP00000340748:p.Arg298Trp	52	0	0		0	100	2	130506620	25	84.34	167	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.R298W	ENST00000338616.3	37	c.892	CCDS35396.1	X	.	.	.	.	.	.	.	.	.	.	c	10.73	1.431281	0.25813	.	.	ENSG00000171054	ENST00000338616	T	0.40476	1.03	4.87	2.14	0.27477	.	0.369652	0.19507	U	0.112602	T	0.32164	0.0820	L	0.51914	1.62	0.09310	N	1	P	0.47841	0.901	B	0.40329	0.326	T	0.26916	-1.0089	10	0.87932	D	0	.	4.482	0.11771	0.0885:0.149:0.6058:0.1566	.	298	Q8NG92	O13H1_HUMAN	W	298	ENSP00000340748:R298W	ENSP00000340748:R298W	R	+	1	2	OR13H1	130506620	0.013000	0.17824	0.110000	0.21437	0.625000	0.37756	1.008000	0.29872	0.130000	0.18549	-0.186000	0.12905	CGG	-	superfamily_SSF81321		0.398	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	protein_coding	OTTHUMT00000058297.1	C			130506620	1	no_errors	NM_001004486.1	genbank	human	provisional	54_36p	missense	SNP	0.967	T	T	130678939	C	T	130678939	3	4	5	1	0	0	0	0	1	0	0	0	10943	527	19	1	894	1	OR13H1	23	130678939	Missense_Mutation	SNP	C	TCGA-AB-2806-03B-01W-0728-08	85760425	130678939	24591621	17	66											
CTTNBP2NL	55917	genome.wustl.edu	37	1	112997103	112997103	+	Silent	SNP	G	G	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr1:112997103G>A	ENST00000271277.6	+	5	588	c.363G>A	c.(361-363)cgG>cgA	p.R121R		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	121					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGGCAGCGGCATGCACAGG	0.388																																						dbGAP											0			1											121	114	117					1																	112997103		2203	4300	6503	112798626	SO:0001819	synonymous_variant	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.363G>A	1.37:g.112997103G>A		360	2.44	9		2	33.33	1	112798626	91	44.85	74	B3KMS5|Q96B40	Silent	SNP	HMMPfam_CortBP2	p.R121	ENST00000271277.6	37	c.363	CCDS845.1	1																																																																																			-	HMMPfam_CortBP2		0.388	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	protein_coding	OTTHUMT00000030686.1	G	NM_018704		112798626	1	no_errors	NM_018704.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	112997103	G	A	112997103	2	1	6	1	0	0	0	0	0	0	0	1	4046	1190	42	2		2	CTTNBP2NL	1	112997103	Silent	SNP	G	TCGA-AB-2807-03D-01W-0755-09		112997103	136253518	1	67											
TBC1D8	11138	genome.wustl.edu	37	2	101643864	101643864	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr2:101643864T>G	ENST00000376840.4	-	15	2455	c.2456A>C	c.(2455-2457)gAg>gCg	p.E819A	TBC1D8_ENST00000409318.1_Missense_Mutation_p.E834A			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	819					blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTCGTAGAGCTCCTCTAGGTC	0.562																																						dbGAP											0			2											77	78	78					2																	101643864		1916	4120	6036	101010296	SO:0001583	missense	0			AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"BUB2-like protein 1", "vascular Rab-GAP/TBC-containing protein"					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.2456A>C	2.37:g.101643864T>G	ENSP00000366036:p.Glu819Ala	205	1.44	3		13	50	13	101010296	103	48.5	97	A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_GRAM,HMMSmart_SM00568,superfamily_EF-hand	p.E819A	ENST00000376840.4	37	c.2456	CCDS46375.1	2	.	.	.	.	.	.	.	.	.	.	T	13.92	2.381207	0.42207	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.54479	0.57;0.57	5.18	5.18	0.71444	EF-hand-like domain (1);	0.093330	0.46442	D	0.000296	T	0.47967	0.1474	L	0.58101	1.795	0.37771	D	0.926677	B	0.21452	0.056	B	0.23419	0.046	T	0.48293	-0.9048	10	0.13470	T	0.59	-21.4485	13.8994	0.63794	0.0:0.0:0.0:1.0	.	819	O95759	TBCD8_HUMAN	A	819;834	ENSP00000366036:E819A;ENSP00000386856:E834A	ENSP00000366036:E819A	E	-	2	0	TBC1D8	101010296	1.000000	0.71417	0.983000	0.44433	0.891000	0.51852	5.087000	0.64480	2.066000	0.61787	0.533000	0.62120	GAG	-	superfamily_EF-hand		0.562	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D8	protein_coding	OTTHUMT00000376092.1	T	NM_007063		101010296	-1	no_errors	NM_001102426.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	101643864	T	G	101643864	3	3	6	1	0	0	0	0	1	0	0	0	15622	1551	54	5	990	5	TBC1D8	2	101643864	Missense_Mutation	SNP	T	TCGA-AB-2807-03D-01W-0755-09		101643864	141555509	2	68											
CCDC150	284992	genome.wustl.edu	37	2	197594112	197594112	+	Splice_Site	SNP	G	G	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr2:197594112G>A	ENST00000389175.4	+	23	2886		c.e23+1		CCDC150_ENST00000409270.1_Splice_Site|CCDC150_ENST00000272831.7_Splice_Site|CCDC150_ENST00000487663.1_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150											breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGGATGAAGGTTGTATGGGA	0.418																																						dbGAP											0			2											106	103	104					2																	197594112		1882	4103	5985	197302357	SO:0001630	splice_region_variant	0				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.2751+1G>A	2.37:g.197594112G>A		345	0.86	3					197302357	284	42.51	210	Q6P5U6|Q6P663|Q8N8V5	Splice_Site	SNP	-	e23+1	ENST00000389175.4	37	c.2751+1	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516663	0.44763	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6874	0.85312	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC150	197302357	1.000000	0.71417	0.999000	0.59377	0.367000	0.29736	5.581000	0.67471	2.697000	0.92050	0.655000	0.94253	.	-	-		0.418	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	protein_coding	OTTHUMT00000335377.2	G	NM_001080539	Intron	197302357	1	no_errors	NM_001080539.1	genbank	human	provisional	54_36p	splice_site	SNP	0.997	A	A	197594112	G	A	197594112	5	1	6	1	0	0	0	0	0	0	1	0	2785	1275	44	2	2842	2	CCDC150	2	197594112	Splice_Site	SNP	G	TCGA-AB-2807-03D-01W-0755-09	95950248	197594112	45605261	3	69											
ODZ3	55714	genome.wustl.edu	37	4	183664410	183664410	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr4:183664410G>A	ENST00000511685.1	+	19	3590	c.3467G>A	c.(3466-3468)cGc>cAc	p.R1156H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1156H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1156					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGGCGAAGGCGCAGCATTTCC	0.527																																						dbGAP											0			4											78	81	80					4																	183664410		2050	4201	6251	183901404	SO:0001583	missense	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"odz, odd Oz/ten-m homolog 3 (Drosophila)"	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.3467G>A	4.37:g.183664410G>A	ENSP00000424226:p.Arg1156His	166	0	0					183901404	126	48.57	119	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	HMMPfam_NHL,HMMSmart_EGF,HMMPfam_RHS_repeat,superfamily_CarboxypepD_reg,superfamily_ConA_like_lec_gl,HMMPfam_Ten_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF101898,superfamily_SSF57196,superfamily_SSF63829	p.R1156H	ENST00000511685.1	37	c.3467	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	35	5.467382	0.96257	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90900	-2.75;-2.75	5.45	5.45	0.79879	.	.	.	.	.	D	0.96454	0.8843	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.96776	0.9572	9	0.87932	D	0	.	19.4688	0.94954	0.0:0.0:1.0:0.0	.	1156	Q9P273	TEN3_HUMAN	H	1156	ENSP00000424226:R1156H;ENSP00000385276:R1156H	ENSP00000385276:R1156H	R	+	2	0	ODZ3	183901404	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.636000	0.98440	2.838000	0.97847	0.561000	0.74099	CGC	-	superfamily_ConA_like_lec_gl		0.527	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ3	protein_coding	OTTHUMT00000361734.1	G			183901404	1	no_errors	NM_001080477.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	183664410	G	A	183664410	3	1	6	1	0	0	0	0	1	0	0	0	10836	1087	38	1	3537	1	ODZ3	4	183664410	Missense_Mutation	SNP	G	TCGA-AB-2807-03D-01W-0755-09		183664410	7489866	4	70											
ZNF311	282890	genome.wustl.edu	37	6	28963746	28963746	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr6:28963746G>A	ENST00000377179.3	-	7	1545	c.1033C>T	c.(1033-1035)Cgt>Tgt	p.R345C	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	345					regulation of transcription, DNA-templated (GO:0006355)|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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ATACAGAGACGGTTCCTGGTC	0.502																																						dbGAP											0			6											91	61	71					6																	28963746		1511	2709	4220	29071725	SO:0001583	missense	0			AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"Zinc fingers, C2H2-type", "-"	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1033C>T	6.37:g.28963746G>A	ENSP00000366384:p.Arg345Cys	575	0.52	3		2	66.67	4	29071725	179	50.55	183	A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R345C	ENST00000377179.3	37	c.1033	CCDS34357.1	6	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.362697	0.01235	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.08193	3.12	2.8	-1.19	0.09585	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02012	0.0063	L	0.39147	1.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	9	0.35671	T	0.21	-0.8317	7.997	0.30273	0.4618:0.0:0.5382:0.0	.	345	Q5JNZ3	ZN311_HUMAN	C	345;253	ENSP00000366384:R345C	ENSP00000366384:R345C	R	-	1	0	ZNF311	29071725	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-4.125000	0.00290	-0.670000	0.05282	-1.626000	0.00786	CGT	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.502	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF311	protein_coding	OTTHUMT00000076631.3	G	XM_212581		29071725	-1	no_errors	NM_001010877.2	genbank	human	provisional	54_36p	missense	SNP	0.000	A	A	28963746	G	A	28963746	3	1	6	1	0	0	0	0	1	0	0	0	17831	1116	39	1	971	1	ZNF311	6	28963746	Missense_Mutation	SNP	G	TCGA-AB-2807-03D-01W-0755-09		28963746	142151321	5	71											
AKAP12	9590	genome.wustl.edu	37	6	151673742	151673742	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr6:151673742G>A	ENST00000253332.1	+	3	4405	c.4216G>A	c.(4216-4218)Gta>Ata	p.V1406I	AKAP12_ENST00000359755.5_Missense_Mutation_p.V1301I|AKAP12_ENST00000402676.2_Missense_Mutation_p.V1406I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V1308I			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1406					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGGAGGCAGTATGCACCAA	0.502																																					Melanoma(141;1616 1805 10049 24534 51979)	dbGAP											0			6											71	72	72					6																	151673742		2203	4300	6503	151715435	SO:0001583	missense	0			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"A-kinase anchor proteins"	370	protein-coding gene	gene with protein product	"gravin", "Src-Suppressed C Kinase Substrate"	604698	"A kinase (PRKA) anchor protein (gravin) 12"			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4216G>A	6.37:g.151673742G>A	ENSP00000253332:p.Val1406Ile	223	0.45	1					151715435	233	46.8	205	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	HMMPfam_WSK,HMMPfam_RII_binding_1	p.V1406I	ENST00000253332.1	37	c.4216	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556339	0.27827	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07908	3.15;3.15;3.16;3.16	4.75	3.83	0.44106	.	1.874550	0.03646	N	0.240300	T	0.02047	0.0064	N	0.19112	0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.39251	-0.9623	10	0.35671	T	0.21	.	7.0774	0.25211	0.2195:0.0:0.7805:0.0	.	1301;1308;1406	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	I	1406;1406;1308;1301	ENSP00000384537:V1406I;ENSP00000253332:V1406I;ENSP00000346702:V1308I;ENSP00000352794:V1301I	ENSP00000253332:V1406I	V	+	1	0	AKAP12	151715435	0.001000	0.12720	0.001000	0.08648	0.010000	0.07245	0.191000	0.17076	1.040000	0.40099	-0.355000	0.07637	GTA	-	NULL		0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	protein_coding	OTTHUMT00000042712.1	G			151715435	1	no_errors	NM_005100.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	A	A	151673742	G	A	151673742	3	1	6	1	0	0	0	0	1	0	0	0	448	1029	36	2	4255	2	AKAP12	6	151673742	Missense_Mutation	SNP	G	TCGA-AB-2807-03D-01W-0755-09	122709996	151673742	19441325	6	72											
LPA	4018	genome.wustl.edu	37	6	160998167	160998167	+	Splice_Site	SNP	C	C	T	rs200099994	byFrequency	TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr6:160998167C>T	ENST00000316300.5	-	28	4676		c.e28+1		LPA_ENST00000447678.1_Splice_Site			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATACATACGCATTTGGGT	0.433													C|||	2	0.000399361	0	0	5008	,	,		16726	0.002		0	False		,,,				2504	0					dbGAP											0			6						C		2,4260		0,2,2129	164	170	168			2.5	1	6		168	1,8565		0,1,4282	yes	splice-5	LPA	NM_005577.2		0,3,6411	TT,TC,CC		0.0117,0.0469,0.0234			160998167	3,12825	2131	4283	6414	160918157	SO:0001630	splice_region_variant	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4631+1G>A	6.37:g.160998167C>T		154	0	0					160918157	325	40.04	217	Q5VTD7|Q9UD88	Splice_Site	SNP	-	e28+1	ENST00000316300.5	37	c.4631+1	CCDS43523.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	8.233	0.805036	0.16467	4.69E-4	1.17E-4	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.55	2.55	0.30701	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5946	0.33707	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LPA	160918157	1.000000	0.71417	0.991000	0.47740	0.146000	0.21551	3.469000	0.53093	1.410000	0.46936	0.430000	0.28490	.	-	-		0.433	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	protein_coding	OTTHUMT00000042957.1	C	NM_005577	Intron	160918157	-1	no_errors	NM_005577.2	genbank	human	validated	54_36p	splice_site	SNP	1.000	T	T	160998167	C	T	160998167	5	4	6	1	0	0	0	0	0	0	1	0	8903	550	19	1	1538	1	LPA	6	160998167	Splice_Site	SNP	C	TCGA-AB-2807-03D-01W-0755-09	9324425	160998167	10116900	7	73											
POM121L12	285877	genome.wustl.edu	37	7	53103840	53103840	+	Missense_Mutation	SNP	G	G	A	rs565383229	byFrequency	TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr7:53103840G>A	ENST00000408890.4	+	1	492	c.476G>A	c.(475-477)cGc>cAc	p.R159H		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159								p.R159H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CAGAGAgcccgccccgcaggc	0.726													G|||	2	0.000399361	0	0	5008	,	,		10797	0		0	False		,,,				2504	0.002					dbGAP											1	Substitution - Missense(1)	lung(1)	7											13	16	15					7																	53103840		1848	4065	5913	53071334	SO:0001583	missense	0				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"POM121 membrane glycoprotein-like 12"				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.476G>A	7.37:g.53103840G>A	ENSP00000386133:p.Arg159His	12	0	0					53071334	16	30.43	7	Q8NDI9	Missense_Mutation	SNP	NULL	p.R159H	ENST00000408890.4	37	c.476	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029590	0.35797	.	.	ENSG00000221900	ENST00000408890	T	0.23552	1.9	2.08	-4.17	0.03857	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.48304	0.573	T	0.10776	-1.0615	9	0.40728	T	0.16	.	4.4869	0.11794	0.2735:0.3869:0.3396:0.0	.	159	Q8N7R1	P1L12_HUMAN	H	159	ENSP00000386133:R159H	ENSP00000386133:R159H	R	+	2	0	POM121L12	53071334	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.533000	0.02215	-1.234000	0.02548	0.555000	0.69702	CGC	-	NULL		0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKFZp564N2472	protein_coding	OTTHUMT00000342656.1	G	NM_182595		53071334	1	no_errors	NM_182595.2	genbank	human	validated	54_36p	missense	SNP	0.001	A	A	53103840	G	A	53103840	3	1	6	1	0	0	0	0	1	0	0	0	12241	1087	38	1	478	1	POM121L12	7	53103840	Missense_Mutation	SNP	G	TCGA-AB-2807-03D-01W-0755-09		53103840	106034823	8	74											
PCLO	27445	genome.wustl.edu	37	7	82538317	82538317	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr7:82538317C>T	ENST00000333891.9	-	8	13650	c.13313G>A	c.(13312-13314)cGt>cAt	p.R4438H	PCLO_ENST00000423517.2_Missense_Mutation_p.R4438H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCTCACGACGCAGATGATA	0.453																																						dbGAP											0			7											90	80	83					7																	82538317		1937	4142	6079	82376253	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"aczonin"	604918	"piccolo (presynaptic cytomatrix protein)"			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13313G>A	7.37:g.82538317C>T	ENSP00000334319:p.Arg4438His	97	2.02	2					82376253	182	40.13	122		Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_zf-piccolo,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger	p.R4438H	ENST00000333891.9	37	c.13313	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907159	0.52333	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.19105	2.17;2.17	5.39	5.39	0.77823	.	.	.	.	.	T	0.46870	0.1415	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.40515	-0.9559	9	0.87932	D	0	.	19.5274	0.95212	0.0:1.0:0.0:0.0	.	4438;4438	Q9Y6V0-5;Q9Y6V0-6	.;.	H	4438	ENSP00000334319:R4438H;ENSP00000388393:R4438H	ENSP00000334319:R4438H	R	-	2	0	PCLO	82376253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.890000	0.69774	2.699000	0.92147	0.591000	0.81541	CGT	-	NULL		0.453	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82376253	-1	no_errors	NM_033026.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	82538317	C	T	82538317	3	4	6	1	0	0	0	0	1	0	0	0	11583	536	19	1	2204	1	PCLO	7	82538317	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09	29434477	82538317	76600346	9	75											
FLNC	2318	genome.wustl.edu	37	7	128480714	128480714	+	Silent	SNP	C	C	T	rs376975967		TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr7:128480714C>T	ENST00000325888.8	+	10	1923	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	FLNC_ENST00000346177.6_Silent_p.Y554Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	554					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGGCGGCTACGCCATCCCTC	0.642													C|||	1	0.000199681	0	0	5008	,	,		18512	0.001		0	False		,,,				2504	0					dbGAP											0			7											147	165	159					7																	128480714		2141	4238	6379	128267950	SO:0001819	synonymous_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"actin binding protein 280"	102565	"filamin C, gamma (actin binding protein 280)"	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.1662C>T	7.37:g.128480714C>T		1521	3.73	59					128267950	97	47.57	88	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	HMMSmart_SM00557,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,superfamily_E set domains,superfamily_Calponin-homology domain CH-domain,HMMPfam_Filamin	p.Y554	ENST00000325888.8	37	c.1662	CCDS43644.1	7																																																																																			-	HMMSmart_SM00557,superfamily_E set domains,HMMPfam_Filamin		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	protein_coding	OTTHUMT00000059948.3	C			128267950	1	no_errors	NM_001458.1	genbank	human	reviewed	54_36p	silent	SNP	0.972	T	T	128480714	C	T	128480714	2	4	6	1	0	0	0	0	0	0	0	1	5935	547	19	1		1	FLNC	7	128480714	Silent	SNP	C	TCGA-AB-2807-03D-01W-0755-09	45942397	128480714	30657949	10	76											
GPR124	25960	genome.wustl.edu	37	8	37697763	37697763	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr8:37697763C>T	ENST00000412232.2	+	17	2649	c.2636C>T	c.(2635-2637)cCt>cTt	p.P879L	GPR124_ENST00000315215.7_Missense_Mutation_p.P662L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	879					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CCCGCTCTGCCTACTCCCAGT	0.597																																						dbGAP											0			8											69	60	63					8																	37697763		2203	4300	6503	37816921	SO:0001583	missense	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17849	protein-coding gene	gene with protein product	"tumor endothelial marker 5"	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.2636C>T	8.37:g.37697763C>T	ENSP00000406367:p.Pro879Leu	185	0	0		3	25	1	37816921	96	26.72	35	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00082,HMMPfam_LRR_1,HMMPfam_HRM,HMMSmart_SM00369,HMMSmart_SM00409,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_L domain-like	p.P872L	ENST00000412232.2	37	c.2615	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	C	18.19	3.569507	0.65765	.	.	ENSG00000020181	ENST00000416514;ENST00000315215;ENST00000412232	T;T	0.43294	0.95;0.95	3.91	3.91	0.45181	GPCR, family 2-like (1);	0.060680	0.64402	N	0.000002	T	0.62109	0.2401	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.98;0.999	T	0.63844	-0.6545	10	0.41790	T	0.15	-14.9293	16.5234	0.84322	0.0:1.0:0.0:0.0	.	662;879	Q96PE1-2;Q96PE1	.;GP124_HUMAN	L	872;662;879	ENSP00000323508:P662L;ENSP00000406367:P879L	ENSP00000323508:P662L	P	+	2	0	GPR124	37816921	1.000000	0.71417	0.078000	0.20375	0.028000	0.11728	7.506000	0.81665	2.188000	0.69820	0.650000	0.86243	CCT	-	NULL		0.597	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	protein_coding	OTTHUMT00000343331.2	C			37816921	1	no_errors	NM_032777.7	genbank	human	validated	54_36p	missense	SNP	0.875	T	T	37697763	C	T	37697763	3	4	6	1	0	0	0	0	1	0	0	0	6638	681	24	2	2681	2	GPR124	8	37697763	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09		37697763	108666259	11	77											
KRT5	3852	genome.wustl.edu	37	12	52910546	52910546	+	Silent	SNP	G	G	T			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr12:52910546G>T	ENST00000252242.4	-	7	1704	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	438	Coil 2.|Rod.		A -> D (in WC-EBS). {ECO:0000269|PubMed:12655565}.		cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTTCTGCAGGGCCTCCTCCA	0.632																																						dbGAP											0			12											97	87	90					12																	52910546		2203	4300	6503	51196813	SO:0001819	synonymous_variant	0				CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"-", "Intermediate filaments type II, keratins (basic)"	6442	protein-coding gene	gene with protein product		148040	"epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types", "keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.1314C>A	12.37:g.52910546G>T		216	3.14	7		0	100	2	51196813	118	48.7	112	Q6PI71|Q6UBJ0|Q8TA91	Missense_Mutation	SNP	NULL	p.G548C	ENST00000252242.4	37	c.1642	CCDS8830.1	12	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487338	0.26686	.	.	ENSG00000186081	ENST00000548409	.	.	.	5.93	3.09	0.35607	.	.	.	.	.	T	0.55705	0.1937	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46707	-0.9172	4	.	.	.	.	7.3447	0.26656	0.2475:0.1167:0.6358:0.0	.	.	.	.	T	146	.	.	P	-	1	0	KRT5	51196813	0.156000	0.22821	0.991000	0.47740	0.976000	0.68499	-0.471000	0.06631	0.389000	0.25086	0.655000	0.94253	CCT	-	NULL		0.632	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LOC100129218	protein_coding	OTTHUMT00000405312.1	G			51196813	1	no_errors	XM_001718439.1	genbank	human	model	54_36p	missense	SNP	1.000	T	T	52910546	G	T	52910546	2	4	6	1	0	0	0	0	0	0	0	1	8479	1219	43	4		4	KRT5	12	52910546	Silent	SNP	G	TCGA-AB-2807-03D-01W-0755-09		52910546	80941349	12	78											
GCN1L1	10985	genome.wustl.edu	37	12	120572142	120572142	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr12:120572142G>A	ENST00000300648.6	-	53	7282	c.7270C>T	c.(7270-7272)Cgg>Tgg	p.R2424W		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2424					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTTTTTCCGGATGACGGCA	0.592																																						dbGAP											0			12											119	121	120					12																	120572142		2122	4230	6352	119056525	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.7270C>T	12.37:g.120572142G>A	ENSP00000300648:p.Arg2424Trp	118	0.84	1		39	46.58	34	119056525	83	47.47	75	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM repeat	p.R2424W	ENST00000300648.6	37	c.7270	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887564	0.72410	.	.	ENSG00000089154	ENST00000300648	T	0.64803	-0.12	5.5	3.56	0.40772	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.89095	3.005	0.80722	D	1	D	0.64830	0.994	P	0.48815	0.591	T	0.81129	-0.1073	10	0.87932	D	0	-25.4064	14.1936	0.65654	0.0:0.0:0.5127:0.4873	.	2424	Q92616	GCN1L_HUMAN	W	2424	ENSP00000300648:R2424W	ENSP00000300648:R2424W	R	-	1	2	GCN1L1	119056525	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	3.123000	0.50453	1.288000	0.44600	0.511000	0.50034	CGG	-	HMMPfam_HEAT,superfamily_ARM repeat		0.592	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	protein_coding	OTTHUMT00000403592.1	G			119056525	-1	no_errors	NM_006836.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	120572142	G	A	120572142	3	1	6	1	0	0	0	0	1	0	0	0	6299	1115	39	1	769	1	GCN1L1	12	120572142	Missense_Mutation	SNP	G	TCGA-AB-2807-03D-01W-0755-09	67661596	120572142	13279753	13	79											
DCLK1	9201	genome.wustl.edu	37	13	36445426	36445426	+	Missense_Mutation	SNP	C	C	T	rs56185003		TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr13:36445426C>T	ENST00000360631.3	-	5	1086	c.875G>A	c.(874-876)cGc>cAc	p.R292H	DCLK1_ENST00000255448.4_Missense_Mutation_p.R292H|DCLK1_ENST00000379892.4_Missense_Mutation_p.R292H			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	292	Pro/Ser-rich.		R -> H (in dbSNP:rs56185003). {ECO:0000269|PubMed:17344846}.		axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGTGCTCCTGCGGGATGATGA	0.507																																						dbGAP											0			13											247	237	240					13																	36445426		2203	4300	6503	35343426	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.875G>A	13.37:g.36445426C>T	ENSP00000353846:p.Arg292His	368	1.34	5					35343426	251	49.6	248	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	HMMSmart_S_TKc,HMMPfam_DCX,HMMSmart_DCX,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF89837	p.R292H	ENST00000360631.3	37	c.875		13	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519467	0.85495	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.69175	-0.38;-0.37;1.76	5.28	5.28	0.74379	.	0.265538	0.37261	N	0.002163	T	0.67221	0.2870	L	0.42245	1.32	0.54753	D	0.99998	D	0.57571	0.98	P	0.47206	0.541	T	0.70241	-0.4926	10	0.54805	T	0.06	.	19.2736	0.94021	0.0:1.0:0.0:0.0	rs56185003	292	O15075-2	.	H	292	ENSP00000255448:R292H;ENSP00000353846:R292H;ENSP00000369222:R292H	ENSP00000255448:R292H	R	-	2	0	DCLK1	35343426	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.461000	0.66699	2.617000	0.88574	0.655000	0.94253	CGC	-	NULL		0.507	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	protein_coding	OTTHUMT00000044487.1	C	NM_004734		35343426	-1	no_errors	NM_004734.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	36445426	C	T	36445426	3	4	6	1	0	0	0	0	1	0	0	0	4291	768	27	1	1370	1	DCLK1	13	36445426	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09		36445426	78724452	14	80											
TYRO3	7301	genome.wustl.edu	37	15	41854889	41854889	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr15:41854889C>T	ENST00000263798.3	+	4	777	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	TYRO3_ENST00000559066.1_Missense_Mutation_p.P140S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	185	Ig-like C2-type 2.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGGACCCGCTCCCTCTCCATC	0.567																																						dbGAP											0			15											40	38	39					15																	41854889		2203	4300	6503	39642181	SO:0001583	missense	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.553C>T	15.37:g.41854889C>T	ENSP00000263798:p.Pro185Ser	574	0	0					39642181	54	50.46	55	O14953|Q86VR3	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.P185S	ENST00000263798.3	37	c.553	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	c	6.261	0.416284	0.11870	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.11385	2.78	4.8	3.87	0.44632	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.416855	0.17770	N	0.162621	T	0.05823	0.0152	N	0.25485	0.75	0.25942	N	0.982869	B	0.11235	0.004	B	0.12156	0.007	T	0.41324	-0.9515	10	0.08837	T	0.75	-8.1142	3.3635	0.07196	0.2527:0.4572:0.2071:0.083	.	185	Q06418	TYRO3_HUMAN	S	117;185	ENSP00000263798:P185S	ENSP00000263798:P185S	P	+	1	0	TYRO3	39642181	0.269000	0.24143	0.967000	0.41034	0.971000	0.66376	1.603000	0.36794	1.207000	0.43291	0.472000	0.43445	CCC	-	HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726		0.567	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	protein_coding	OTTHUMT00000252693.2	C			39642181	1	no_errors	NM_006293.2	genbank	human	provisional	54_36p	missense	SNP	0.035	T	T	41854889	C	T	41854889	3	4	6	1	0	0	0	0	1	0	0	0	16811	855	30	2	567	2	TYRO3	15	41854889	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09		41854889	60676503	15	81											
FAM154B	283726	genome.wustl.edu	37	15	82574495	82574495	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr15:82574495C>T	ENST00000339465.5	+	3	358	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	FAM154B_ENST00000427381.2_Missense_Mutation_p.L82F|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	97										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TAAAAGTGAACTTTATAAGCC	0.338																																						dbGAP											0			15											82	86	85					15																	82574495		2203	4300	6503	80361550	SO:0001583	missense	0			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.289C>T	15.37:g.82574495C>T	ENSP00000340445:p.Leu97Phe	132	0	0					80361550	119	46.64	104	B4E2M2	Missense_Mutation	SNP	NULL	p.L97F	ENST00000339465.5	37	c.289	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	C	2.915	-0.224576	0.06061	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.17691	2.26;2.26	3.57	1.65	0.23941	.	0.395009	0.19496	N	0.112850	T	0.15478	0.0373	L	0.58583	1.82	0.09310	N	1	B;B	0.21147	0.025;0.052	B;B	0.28232	0.043;0.087	T	0.37934	-0.9684	10	0.09843	T	0.71	-6.9549	8.7844	0.34811	0.0:0.7341:0.0:0.2659	.	82;97	B4E2M2;Q658L1	.;F154B_HUMAN	F	97;82	ENSP00000340445:L97F;ENSP00000403743:L82F	ENSP00000340445:L97F	L	+	1	0	FAM154B	80361550	0.001000	0.12720	0.232000	0.24009	0.236000	0.25371	0.163000	0.16520	0.308000	0.22923	0.536000	0.68110	CTT	-	NULL		0.338	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	protein_coding	OTTHUMT00000419644.1	C	NM_001008226		80361550	1	no_errors	NM_001008226.1	genbank	human	predicted	54_36p	missense	SNP	0.864	T	T	82574495	C	T	82574495	3	4	6	1	0	0	0	0	1	0	0	0	5464	565	20	2	299	2	FAM154B	15	82574495	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09	40719606	82574495	19956897	16	82											
ALPK3	57538	genome.wustl.edu	37	15	85401322	85401322	+	Missense_Mutation	SNP	C	C	T	rs200275512		TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr15:85401322C>T	ENST00000258888.5	+	6	4126	c.3959C>T	c.(3958-3960)gCg>gTg	p.A1320V		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1320					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGGGGGAGGCGGGTGGGCAG	0.667																																						dbGAP											0			15							VAL/ALA	0,4290		0,0,2145	8	11	10		3959	-6.3	0	15		10	4,8476		0,4,4236	no	missense	ALPK3	NM_020778.4	64	0,4,6381	TT,TC,CC		0.0472,0.0,0.0313	benign	1320/1908	85401322	4,12766	2145	4240	6385	83202326	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3959C>T	15.37:g.85401322C>T	ENSP00000258888:p.Ala1320Val	47	2.08	1		1	0	0	83202326	56	46.73	50	Q9P2L6	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin	p.A1320V	ENST00000258888.5	37	c.3959	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.242687	0.01481	0.0	4.72E-4	ENSG00000136383	ENST00000258888	T	0.58506	0.33	4.67	-6.34	0.01982	.	1.504030	0.04197	N	0.329285	T	0.28699	0.0711	N	0.04508	-0.205	0.09310	N	1	B	0.15473	0.013	B	0.06405	0.002	T	0.11591	-1.0581	10	0.24483	T	0.36	0.6782	5.9306	0.19136	0.0:0.2218:0.3742:0.404	.	1320	Q96L96	ALPK3_HUMAN	V	1320	ENSP00000258888:A1320V	ENSP00000258888:A1320V	A	+	2	0	ALPK3	83202326	0.000000	0.05858	0.000000	0.03702	0.080000	0.17528	-1.364000	0.02590	-1.145000	0.02858	-0.258000	0.10820	GCG	-	NULL		0.667	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	protein_coding	OTTHUMT00000308997.1	C	NM_020778		83202326	1	no_errors	NM_020778.4	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	85401322	C	T	85401322	3	4	6	1	0	0	0	0	1	0	0	0	546	768	27	1	3981	1	ALPK3	15	85401322	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09	2826827	85401322	17130070	17	83											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	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_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron	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	103	103					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	153	0.65	1		160	45.05	132	88432938	97	45.81	82	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	T	90631934	C	T	90631934	3	4	6	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09	5230612	90631934	11899458	18	84											
CAMKK1	84254	genome.wustl.edu	37	17	3785557	3785557	+	Intron	SNP	G	G	A	rs143907936	byFrequency	TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr17:3785557G>A	ENST00000348335.2	-	7	834				CAMKK1_ENST00000158166.5_Missense_Mutation_p.R265C|CAMKK1_ENST00000381769.2_Intron|CAMKK1_ENST00000381771.2_Missense_Mutation_p.R265C	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTACCTGAGCGCGCAGCCCAC	0.532																																						dbGAP											0			17						A	,,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	88	83	85		,,793	-1.2	0	17	dbSNP_134	85	4,8596	3.7+/-12.6	0,4,4296	yes	intron,intron,missense	CAMKK1	NM_032294.2,NM_172206.1,NM_172207.2	,,180	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,,	,,265/521	3785557	5,13001	2203	4300	6503	3732306	SO:0001627	intron_variant	0			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.685+264C>T	17.37:g.3785557G>A		293	1.01	3		4	33.33	2	3732306	74	39.84	49	Q9BQH3	Missense_Mutation	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R265C	ENST00000348335.2	37	c.793	CCDS11038.1	17	.	.	.	.	.	.	.	.	.	.	g	4.387	0.071454	0.08436	2.27E-4	4.65E-4	ENSG00000004660	ENST00000381771;ENST00000158166	T;T	0.74106	-0.81;-0.8	2.08	-1.16	0.09678	.	.	.	.	.	T	0.58750	0.2144	L	0.35723	1.085	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43523	-0.9386	9	0.38643	T	0.18	.	5.0377	0.14443	0.5053:0.0:0.4947:0.0	.	265	F8W9H1	.	C	265	ENSP00000371190:R265C;ENSP00000158166:R265C	ENSP00000158166:R265C	R	-	1	0	CAMKK1	3732306	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.204000	0.03017	-0.272000	0.09259	-0.726000	0.03593	CGC	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.532	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	protein_coding	OTTHUMT00000207456.1	G	NM_032294, NM_172206, NM_172207		3732306	-1	no_errors	NM_172207.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A	A	3785557	G	A	3785557	1	1	6	0	1	0	0	0	0	0	0	0	2606	1087	38	1		1	CAMKK1	17	3785557	Intron	SNP	G	TCGA-AB-2807-03D-01W-0755-09		3785557	77409653	19	85											
USP6	9098	genome.wustl.edu	37	17	5064824	5064824	+	Splice_Site	SNP	G	G	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr17:5064824G>A	ENST00000574788.1	+	32	5060	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	USP6_ENST00000304328.5_Splice_Site_p.D627N|USP6_ENST00000250066.6_Splice_Site_p.D944N|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	944	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGTTTCAGTGATAACTGTAT	0.428			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts																																	dbGAP		Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0			17											137	126	130					17																	5064824		2203	4300	6503	5005548	SO:0001630	splice_region_variant	0			X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"Ubiquitin-specific peptidases"	12629	protein-coding gene	gene with protein product	"ubiquitin carboxyl-terminal hydrolase 6", "TBC1D3 and USP32 fusion", "Tre-2 oncogene"	604334	"ubiquitin specific protease 6 (Tre-2 oncogene)", "TRE oncogene, Smith Magenis syndrome chromosome region", "ubiquitin specific peptidase 6 (Tre-2 oncogene)"	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2829-1G>A	17.37:g.5064824G>A		359	0.28	1					5005548	291	42.83	218	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases	p.D944N	ENST00000574788.1	37	c.2830	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410488	0.42715	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.15256	2.81;2.44	2.45	2.45	0.29901	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.091325	0.64402	D	0.000001	T	0.32941	0.0846	L	0.54908	1.71	0.53688	D	0.999973	D;P	0.71674	0.998;0.716	D;B	0.81914	0.995;0.268	T	0.09250	-1.0683	10	0.87932	D	0	.	10.7278	0.46079	0.0:0.0:1.0:0.0	.	627;944	P35125-2;P35125	.;UBP6_HUMAN	N	944;627	ENSP00000250066:D944N;ENSP00000305473:D627N	ENSP00000250066:D944N	D	+	1	0	USP6	5005548	1.000000	0.71417	1.000000	0.80357	0.138000	0.21146	9.474000	0.97718	1.389000	0.46526	0.134000	0.15878	GAT	-	HMMPfam_UCH,superfamily_Cysteine proteinases		0.428	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	protein_coding	OTTHUMT00000438990.1	G	NM_004505	Missense_Mutation	5005548	1	no_errors	NM_004505.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	5064824	G	A	5064824	5	1	6	1	0	0	0	0	0	0	1	0	17083	1304	45	2	2920	2	USP6	17	5064824	Splice_Site	SNP	G	TCGA-AB-2807-03D-01W-0755-09	1279267	5064824	76130386	20	86											
KRT20	54474	genome.wustl.edu	37	17	39041199	39041199	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr17:39041199C>T	ENST00000167588.3	-	1	280	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	80	Coil 1A.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCTCGCTAGACGGTCATTTAG	0.537																																						dbGAP											0			17											98	85	90					17																	39041199		2203	4300	6503	36294725	SO:0001583	missense	0			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"-", "Intermediate filaments type I, keratins (acidic)"	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.239G>A	17.37:g.39041199C>T	ENSP00000167588:p.Arg80His	278	0.36	1					36294725	258	13.71	41	B2R6W7	Missense_Mutation	SNP	HMMPfam_Filament,PatternScan_IF	p.R80H	ENST00000167588.3	37	c.239	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.656830	0.96724	.	.	ENSG00000171431	ENST00000167588	D	0.94046	-3.34	5.79	5.79	0.91817	Filament (1);	0.198571	0.34828	N	0.003660	D	0.97306	0.9119	M	0.86953	2.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.97487	1.0051	10	0.87932	D	0	.	20.0314	0.97540	0.0:1.0:0.0:0.0	.	80	P35900	K1C20_HUMAN	H	80	ENSP00000167588:R80H	ENSP00000167588:R80H	R	-	2	0	KRT20	36294725	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	7.547000	0.82146	2.737000	0.93849	0.655000	0.94253	CGT	-	HMMPfam_Filament		0.537	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	protein_coding	OTTHUMT00000257202.2	C			36294725	-1	no_errors	NM_019010.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	39041199	C	T	39041199	3	4	6	1	0	0	0	0	1	0	0	0	8458	536	19	1	1067	1	KRT20	17	39041199	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09	33976375	39041199	42154011	21	87											
LAMA1	284217	genome.wustl.edu	37	18	7036046	7036046	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr18:7036046G>T	ENST00000389658.3	-	13	1872	c.1779C>A	c.(1777-1779)taC>taA	p.Y593*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	593	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCGGAATATCGTAGGACACCG	0.448																																						dbGAP											0			18											171	123	140					18																	7036046		2203	4300	6503	7026046	SO:0001587	stop_gained	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"Laminins"	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.1779C>A	18.37:g.7036046G>T	ENSP00000374309:p.Tyr593*	378	3.57	14					7026046	140	44	110		Nonsense_Mutation	SNP	HMMPfam_Laminin_B,HMMSmart_SM00282,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00281,superfamily_EGF/Laminin	p.Y593*	ENST00000389658.3	37	c.1779	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	38	6.923224	0.97936	.	.	ENSG00000101680	ENST00000389658	.	.	.	5.78	-3.14	0.05250	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.5907	0.68362	0.7665:0.0:0.2335:0.0	.	.	.	.	X	593	.	ENSP00000374309:Y593X	Y	-	3	2	LAMA1	7026046	0.070000	0.21116	0.063000	0.19743	0.765000	0.43378	-0.390000	0.07332	-0.461000	0.06993	-0.136000	0.14681	TAC	-	HMMPfam_Laminin_B,superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00281		0.448	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559		7026046	-1	no_errors	NM_005559.2	genbank	human	validated	54_36p	nonsense	SNP	0.990	T	T	7036046	G	T	7036046	4	4	6	1	0	0	0	0	0	1	0	0	8605	1140	40	4	7652	4	LAMA1	18	7036046	Nonsense_Mutation	SNP	G	TCGA-AB-2807-03D-01W-0755-09		7036046	71041202	22	88											
POLR2E	5434	genome.wustl.edu	37	19	1090936	1090936	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr19:1090936C>A	ENST00000215587.7	-	4	683	c.400G>T	c.(400-402)Gag>Tag	p.E134*	POLR2E_ENST00000586746.1_Nonsense_Mutation_p.E134*|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	134					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGCAGCTCCTGCTGCAGA	0.662																																						dbGAP											0			19											63	59	60					19																	1090936		2203	4300	6503	1041936	SO:0001587	stop_gained	0				CCDS12056.1	19p13.3	2013-01-21	2002-08-29			ENSG00000099817		"RNA polymerase subunits"	9192	protein-coding gene	gene with protein product	"DNA directed RNA polymerase II 23 kda polypeptide"	180664	"polymerase (RNA) II (DNA directed) polypeptide E (25kD)"			8034326	Standard	NM_002695		Approved	RPB5, RPABC1, XAP4, hRPB25, hsRPB5	uc002lre.4	P19388		ENST00000215587.7:c.400G>T	19.37:g.1090936C>A	ENSP00000215587:p.Glu134*	32	0	0		34	17.07	7	1041936	16	38.46	10	B2R6L4|D6W5Y1|O43380|Q6PIH5|Q9BT06	Nonsense_Mutation	SNP	HMMPfam_RNA_pol_Rpb5_C,PatternScan_RNA_POL_H_23KD,superfamily_RNApol_RPB5_like,HMMPfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N	p.E134*	ENST00000215587.7	37	c.400	CCDS12056.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.961316	0.97151	.	.	ENSG00000099817	ENST00000215587	.	.	.	3.47	3.47	0.39725	.	0.119091	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.5314	14.0569	0.64774	0.0:1.0:0.0:0.0	.	.	.	.	X	134	.	ENSP00000215587:E134X	E	-	1	0	POLR2E	1041936	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.607000	0.67648	1.912000	0.55364	0.491000	0.48974	GAG	-	superfamily_RNA_pol_Rpb5_N		0.662	POLR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2E	protein_coding	OTTHUMT00000458044.1	C	NM_002695		1041936	-1	no_errors	NM_002695.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	1090936	C	A	1090936	4	1	6	1	0	0	0	0	0	1	0	0	12218	864	30	4	248	4	POLR2E	19	1090936	Nonsense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09		1090936	58038047	23	89											
C20orf26	26074	genome.wustl.edu	37	20	20079446	20079446	+	Nonsense_Mutation	SNP	C	C	T	rs201899206		TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr20:20079446C>T	ENST00000245957.5	+	8	923	c.847C>T	c.(847-849)Cga>Tga	p.R283*	C20orf26_ENST00000451767.2_Nonsense_Mutation_p.R283*|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Nonsense_Mutation_p.R283*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		283										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CCTAAGTGTCCGAAGAAGTCA	0.468													C|||	1	0.000199681	0	0	5008	,	,		18264	0.001		0	False		,,,				2504	0					dbGAP											0			20											116	93	101					20																	20079446		2203	4300	6503	20027446	SO:0001587	stop_gained	0																														ENST00000245957.5:c.847C>T	20.37:g.20079446C>T	ENSP00000245957:p.Arg283*	914	0.22	2					20027446	255	47.31	229	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Nonsense_Mutation	SNP	superfamily_Acyl-CoA N-acyltransferases (Nat),superfamily_FAD/NAD(P)-binding domain	p.R283*	ENST00000245957.5	37	c.847	CCDS33447.1	20	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	14.56	2.572038	0.45798	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000451767;ENST00000442372;ENST00000377297	.	.	.	4.88	-1.78	0.07957	.	1.324370	0.05429	N	0.545642	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	16.6415	0.85128	0.1012:0.2098:0.689:0.0	.	.	.	.	X	237;283;283;283;283;283;42;75	.	ENSP00000245957:R283X	R	+	1	2	C20orf26	20027446	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.256000	0.08757	-0.212000	0.10109	-0.176000	0.13171	CGA	-	NULL		0.468	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	protein_coding	OTTHUMT00000078228.3	C			20027446	1	no_errors	NM_015585.2	genbank	human	predicted	54_36p	nonsense	SNP	0.000	T	T	20079446	C	T	20079446	4	4	6	1	0	0	0	0	0	1	0	0	2106	644	23	1	873	1	C20orf26	20	20079446	Nonsense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09		20079446	42946074	24	90											
ASXL1	171023	genome.wustl.edu	37	20	31022727	31022727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr20:31022727delG	ENST00000375687.4	+	13	2636	c.2212delG	c.(2212-2214)ggafs	p.G738fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G733fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	738					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGCTACAGTTGGACTCACAGA	0.592			"F, N, Mis"		"MDS, CMML"																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											53	54	53					20																	31022727		2203	4300	6503	30486388	SO:0001589	frameshift_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2212delG	20.37:g.31022727delG	ENSP00000364839:p.Gly738fs	65	5.8	4		28	45.1	23	30486388	61	50.41	62	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Del	DEL	NULL	p.G738fs	ENST00000375687.4	37	c.2212	CCDS13201.1	20																																																																																			-	NULL		0.592	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	G	NM_015338		30486388	1	no_errors	NM_015338.4	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.000	-	-	31022727	G	-	31022727	7	5	6	1	0	1	0	1	0	0	0	0	1066	1349	47	0	2268	0	ASXL1	20	31022727	Frame_Shift_Del	DEL	G	TCGA-AB-2807-03D-01W-0755-09	10943281	31022727	32002793	25	91											
RUNX1	861	genome.wustl.edu	37	21	36252856	36252861	+	In_Frame_Del	DEL	CTTCCA	CTTCCA	-			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	CTTCCA	CTTCCA	CTTCCA	-	CTTCCA	CTTCCA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr21:36252856_36252861delCTTCCA	ENST00000344691.4	-	2	1997_2002	c.420_425delTGGAAG	c.(418-426)agtggaaga>aga	p.SG140del	RUNX1_ENST00000358356.5_In_Frame_Del_p.SG140del|RUNX1_ENST00000437180.1_In_Frame_Del_p.SG167del|RUNX1_ENST00000486278.2_In_Frame_Del_p.SG143del|RUNX1_ENST00000325074.5_In_Frame_Del_p.SG155del|RUNX1_ENST00000300305.3_In_Frame_Del_p.SG167del|RUNX1_ENST00000399240.1_In_Frame_Del_p.SG140del	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	140	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.G168*(1)|p.R169fs*44(1)|p.G168_R169insRSG(1)|p.R169fs*11(1)|p.R169fs*10(1)		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						TAACGTACCTCTTCCACTTCGACCGA	0.427			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	5	Insertion - Frameshift(3)|Insertion - In frame(1)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(4)|breast(1)	21																																								35174731	SO:0001651	inframe_deletion	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.420_425delTGGAAG	21.37:g.36252856_36252861delCTTCCA	ENSP00000340690:p.Ser140_Gly141del								35174726				A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	In_Frame_Del	DEL	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.SG167in_frame_del	ENST00000344691.4	37	c.506_501	CCDS42922.1	21																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.427	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	CTTCCA			35174731	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.990	-	-	36252861	CTTCCA	-	36252856	7	5	6	1	0	1	0	1	0	0	0	0	13746	913	32	0	989	0	RUNX1	21	36252856	In_Frame_Del	DEL	CTTCCA	TCGA-AB-2807-03D-01W-0755-09		36252856	11877039	26	92											
OSBP2	23762	genome.wustl.edu	37	22	31266557	31266557	+	Missense_Mutation	SNP	G	G	C	rs370057467		TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr22:31266557G>C	ENST00000332585.6	+	3	1099	c.995G>C	c.(994-996)cGc>cCc	p.R332P	OSBP2_ENST00000382310.3_Missense_Mutation_p.R332P|OSBP2_ENST00000407373.1_Missense_Mutation_p.R159P|OSBP2_ENST00000446658.2_Missense_Mutation_p.R332P|OSBP2_ENST00000437268.2_Missense_Mutation_p.R74P|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000403222.3_Missense_Mutation_p.R167P	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	332					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCACTCCAGCGCTCCCTGACA	0.572																																						dbGAP											0			22											59	66	64					22																	31266557		2148	4240	6388	29596557	SO:0001583	missense	0				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"Oxysterol binding proteins", "Pleckstrin homology (PH) domain containing"	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.995G>C	22.37:g.31266557G>C	ENSP00000332576:p.Arg332Pro	44	2.22	1		0	100	2	29596557	22	46.34	19	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	HMMPfam_Oxysterol_BP,HMMPfam_PH,HMMSmart_SM00233,PatternScan_OSBP,superfamily_PH domain-like	p.R332P	ENST00000332585.6	37	c.995	CCDS43002.1	22	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663047	0.88251	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000437268	T;T;T;T;T;T	0.58210	0.54;0.55;1.3;1.14;1.29;0.35	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.935;0.993;0.993;1.0;0.999	T	0.83263	-0.0047	10	0.66056	D	0.02	-23.212	17.0329	0.86466	0.0:0.0:1.0:0.0	.	74;332;167;159;332;332	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;.;OSBP2_HUMAN	P	167;159;332;332;332;74	ENSP00000384213:R167P;ENSP00000385237:R159P;ENSP00000332576:R332P;ENSP00000371747:R332P;ENSP00000392080:R332P;ENSP00000389200:R74P	ENSP00000332576:R332P	R	+	2	0	OSBP2	29596557	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.190000	0.94934	2.349000	0.79799	0.563000	0.77884	CGC	-	NULL		0.572	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	protein_coding	OTTHUMT00000321547.2	G	NM_030758		29596557	1	no_errors	NM_030758.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	31266557	G	C	31266557	3	2	6	1	0	0	0	0	1	0	0	0	11274	1087	38	4	1005	4	OSBP2	22	31266557	Missense_Mutation	SNP	G	TCGA-AB-2807-03D-01W-0755-09		31266557	20038009	27	93											
C22orf42	150297	genome.wustl.edu	37	22	32555094	32555094	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chr22:32555094C>A	ENST00000382097.3	-	1	181	c.109G>T	c.(109-111)Gca>Tca	p.A37S	RP1-90G24.8_ENST00000426354.1_lincRNA	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	37										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GCTGTGGCTGCCACAGTCTCA	0.582																																						dbGAP											0			22											108	94	99					22																	32555094		2203	4300	6503	30885094	SO:0001583	missense	0			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.109G>T	22.37:g.32555094C>A	ENSP00000371529:p.Ala37Ser	370	0.27	1					30885094	131	51.3	138	A4QPH5	Missense_Mutation	SNP	NULL	p.A37S	ENST00000382097.3	37	c.109	CCDS33639.1	22	.	.	.	.	.	.	.	.	.	.	C	1.787	-0.480494	0.04383	.	.	ENSG00000205856	ENST00000382097	T	0.34667	1.35	0.131	0.131	0.14755	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	P	0.45594	0.862	B	0.37943	0.261	T	0.11567	-1.0582	8	0.59425	D	0.04	.	.	.	.	.	37	Q6IC83	CV042_HUMAN	S	37	ENSP00000371529:A37S	ENSP00000371529:A37S	A	-	1	0	C22orf42	30885094	0.002000	0.14202	0.009000	0.14445	0.009000	0.06853	0.199000	0.17237	0.171000	0.19730	0.174000	0.16983	GCA	-	NULL		0.582	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf42	protein_coding	OTTHUMT00000075268.2	C	NM_001010859		30885094	-1	no_errors	NM_001010859.1	genbank	human	provisional	54_36p	missense	SNP	0.000	A	A	32555094	C	A	32555094	3	1	6	1	0	0	0	0	1	0	0	0	2149	739	26	4	682	4	C22orf42	22	32555094	Missense_Mutation	SNP	C	TCGA-AB-2807-03D-01W-0755-09	1288537	32555094	18749472	28	94											
NXF3	56000	genome.wustl.edu	37	X	102335541	102335541	+	Splice_Site	SNP	C	C	T			TCGA-AB-2807-03D-01W-0755-09	TCGA-AB-2807-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d15bdda-bbb7-4e3d-bdd6-7546d2905e95	b5c93c1e-585d-4cf8-a2b8-bd1b9eb4994c	g.chrX:102335541C>T	ENST00000395065.3	-	10	992		c.e10-1		NXF3_ENST00000425644.1_Splice_Site	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3						mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAGGATGGAGCTGCCGAAAAT	0.473																																						dbGAP											0			X											118	98	105					X																	102335541		2203	4300	6503	102222197	SO:0001630	splice_region_variant	0			AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.891-1G>A	X.37:g.102335541C>T		340	0	0					102222197	107	39.55	70	B4DYS7|Q5H9I1|Q9H1A9	Splice_Site	SNP	-	e10-1	ENST00000395065.3	37	c.891-1	CCDS14503.1	X	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166238	0.21621	.	.	ENSG00000147206	ENST00000395065;ENST00000427570	.	.	.	3.54	3.54	0.40534	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.239	0.54532	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NXF3	102222197	0.998000	0.40836	0.022000	0.16811	0.025000	0.11179	3.939000	0.56591	2.034000	0.60081	0.600000	0.82982	.	-	-		0.473	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF3	protein_coding	OTTHUMT00000057684.1	C	NM_022052	Intron	102222197	-1	no_errors	NM_022052.1	genbank	human	reviewed	54_36p	splice_site	SNP	0.376	T	T	102335541	C	T	102335541	5	4	6	1	0	0	0	0	0	0	1	0	10785	811	28	2	745	2	NXF3	23	102335541	Splice_Site	SNP	C	TCGA-AB-2807-03D-01W-0755-09		102335541	52935019	29	95											
GJA4	2701	genome.wustl.edu	37	1	35260717	35260717	+	Silent	SNP	G	G	A	rs113974864	byFrequency	TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr1:35260717G>A	ENST00000342280.4	+	2	991	c.903G>A	c.(901-903)gcG>gcA	p.A301A		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	301					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AGAGGCTGGCGTCTTCCAGGC	0.602																																						dbGAP											0			1						G		2,4404	4.2+/-10.8	0,2,2201	46	43	44		903	-1.9	1	1	dbSNP_132	44	0,8600		0,0,4300	no	coding-synonymous	GJA4	NM_002060.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		301/334	35260717	2,13004	2203	4300	6503	35033304	SO:0001819	synonymous_variant	0			M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"Ion channels / Gap junction proteins (connexins)"	4278	protein-coding gene	gene with protein product	"connexin 37"	121012	"gap junction protein, alpha 4, 37kD (connexin 37)", "gap junction protein, alpha 4, 37kDa (connexin 37)"			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.903G>A	1.37:g.35260717G>A		43	2.27	1					35033304	37	53.16	42	A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Silent	SNP	HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC	p.A301	ENST00000342280.4	37	c.903	CCDS30669.1	1																																																																																			-	NULL		0.602	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJA4	protein_coding	OTTHUMT00000011556.1	G	NM_002060		35033304	1	no_errors	NM_002060.2	genbank	human	reviewed	54_36p	silent	SNP	0.012	A	A	35260717	G	A	35260717	2	1	7	1	0	0	0	0	0	0	0	1	6403	1132	40	1		1	GJA4	1	35260717	Silent	SNP	G	TCGA-AB-2808-03D-01W-0755-09		35260717	213989904	1	96											
CSF3R	1441	genome.wustl.edu	37	1	36933434	36933434	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr1:36933434G>A	ENST00000373106.1	-	14	2400	c.1853C>T	c.(1852-1854)aCc>aTc	p.T618I	CSF3R_ENST00000361632.4_Missense_Mutation_p.T618I|CSF3R_ENST00000331941.5_Missense_Mutation_p.T618I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.T618I|CSF3R_ENST00000373104.1_Missense_Mutation_p.T618I|CSF3R_ENST00000373103.1_Missense_Mutation_p.T618I|CSF3R_ENST00000440588.2_Missense_Mutation_p.T618I|CSF3R_ENST00000418048.2_Missense_Mutation_p.T618I	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	618	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGGGTCAAGGTCATCAGGGT	0.597																																						dbGAP											0			1											91	100	97					1																	36933434		2203	4300	6503	36706021	SO:0001583	missense	0			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"CD molecules", "Fibronectin type III domain containing"	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1853C>T	1.37:g.36933434G>A	ENSP00000362198:p.Thr618Ile	61	0	0		250	27.54	95	36706021	184	17.33	39		Missense_Mutation	SNP	PatternScan_HEMATOPO_REC_L_F2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_Lep_receptor_Ig	p.T618I	ENST00000373106.1	37	c.1853	CCDS413.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.56|15.56	2.869935|2.869935	0.51588|0.51588	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465|ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	.|T;T;T;T;T;T;T;T	.|0.61627	.|0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.59|5.59	4.67|4.67	0.58626|0.58626	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|0.255320	.|0.45606	.|D	.|0.000357	T|T	0.73583|0.73583	0.3605|0.3605	M|M	0.69823|0.69823	2.125|2.125	0.33207|0.33207	D|D	0.552964|0.552964	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999;1.0	.|D;D;D;D;D;D	.|0.91635	.|0.997;0.997;0.999;0.997;0.969;0.996	T|T	0.81711|0.81711	-0.0808|-0.0808	5|10	.|0.54805	.|T	.|0.06	-27.5191|-27.5191	13.1782|13.1782	0.59639|0.59639	0.0:0.0:0.8403:0.1597|0.0:0.0:0.8403:0.1597	.|.	.|618;618;618;618;618;618	.|Q1ZYL6;E1B6W6;Q99062-3;Q99062;Q99062-4;Q99062-2	.|.;.;.;CSF3R_HUMAN;.;.	S|I	170|618	.|ENSP00000362198:T618I;ENSP00000362196:T618I;ENSP00000362195:T618I;ENSP00000355406:T618I;ENSP00000332180:T618I;ENSP00000401588:T618I;ENSP00000345013:T618I;ENSP00000397568:T618I	.|ENSP00000332180:T618I	P|T	-|-	1|2	0|0	CSF3R|CSF3R	36706021|36706021	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.414000|0.414000	0.31173|0.31173	5.794000|5.794000	0.69067|0.69067	1.337000|1.337000	0.45525|0.45525	0.655000|0.655000	0.94253|0.94253	CCT|ACC	-	superfamily_FN_III-like		0.597	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF3R	protein_coding	OTTHUMT00000021997.2	G	NM_156039		36706021	-1	no_errors	NM_156039.2	genbank	human	reviewed	54_36p	missense	SNP	0.989	A	A	36933434	G	A	36933434	3	1	7	1	0	0	0	0	1	0	0	0	3937	1261	44	2	863	2	CSF3R	1	36933434	Missense_Mutation	SNP	G	TCGA-AB-2808-03D-01W-0755-09	1672717	36933434	212317187	2	97											
NRAS	4893	genome.wustl.edu	37	1	115258744	115258744	+	Missense_Mutation	SNP	C	C	T	rs121434596		TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr1:115258744C>T	ENST00000369535.4	-	2	291	c.38G>A	c.(37-39)gGt>gAt	p.G13D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(188)|p.G13V(56)|p.G13A(16)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCCCAACACCACCTGCTCC	0.498	G13D(HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13V(AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	262	Substitution - Missense(262)	haematopoietic_and_lymphoid_tissue(217)|skin(36)|thyroid(2)|large_intestine(2)|soft_tissue(2)|central_nervous_system(1)|endometrium(1)|NS(1)	1	GRCh37	CM071907	NRAS	M	rs121434596						208	185	193					1																	115258744		2203	4300	6503	115060267	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.38G>A	1.37:g.115258744C>T	ENSP00000358548:p.Gly13Asp	74	0	0		26	16.13	5	115060267	153	16.85	31	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G13D	ENST00000369535.4	37	c.38	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048221	0.93740	.	.	ENSG00000213281	ENST00000369535	T	0.72942	-0.7	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	T	0.79644	0.4481	M	0.92604	3.325	0.80722	D	1	B	0.33964	0.434	B	0.42319	0.383	T	0.81673	-0.0826	10	0.62326	D	0.03	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	D	13	ENSP00000358548:G13D	ENSP00000358548:G13D	G	-	2	0	NRAS	115060267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060267	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115258744	C	T	115258744	3	4	7	1	0	0	0	0	1	0	0	0	10640	507	18	2	547	2	NRAS	1	115258744	Missense_Mutation	SNP	C	TCGA-AB-2808-03D-01W-0755-09	78325310	115258744	133991877	3	98											
TSPAN2	10100	genome.wustl.edu	37	1	115596001	115596001	+	Splice_Site	SNP	G	G	A			TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr1:115596001G>A	ENST00000369516.2	-	7	630	c.599C>T	c.(598-600)aCg>aTg	p.T200M	TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369515.2_Splice_Site_p.T175M|TSPAN2_ENST00000369514.2_Intron	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	200					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTTTCTCACCGTCAGACCTGC	0.363																																						dbGAP											0			1											111	107	108					1																	115596001		2203	4300	6503	115397524	SO:0001630	splice_region_variant	0			AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"Tetraspanins"	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.600+1C>T	1.37:g.115596001G>A		63	5.97	4		21	8.7	2	115397524	215	35.61	120	D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	superfamily_Tetraspanin,HMMPfam_Tetraspannin,PatternScan_TM4_1	p.T200M	ENST00000369516.2	37	c.599	CCDS881.1	1	.	.	.	.	.	.	.	.	.	.	G	6.664	0.491141	0.12702	.	.	ENSG00000134198	ENST00000369516;ENST00000369515	T;T	0.78595	-1.19;-1.19	5.7	4.78	0.61160	.	0.128334	0.64402	N	0.000001	T	0.33000	0.0848	N	0.01277	-0.915	0.80722	D	1	P	0.45240	0.854	B	0.41946	0.371	T	0.50996	-0.8761	10	0.11182	T	0.66	.	13.1714	0.59599	0.0774:0.0:0.9226:0.0	.	200	O60636	TSN2_HUMAN	M	200;175	ENSP00000358529:T200M;ENSP00000358528:T175M	ENSP00000358528:T175M	T	-	2	0	TSPAN2	115397524	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.468000	0.60162	1.414000	0.47017	0.467000	0.42956	ACG	-	HMMPfam_Tetraspannin		0.363	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN2	protein_coding	OTTHUMT00000032828.1	G	NM_005725	Missense_Mutation	115397524	-1	no_errors	NM_005725.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	115596001	G	A	115596001	5	1	7	1	0	0	0	0	0	0	1	0	16641	1159	40	1	74	1	TSPAN2	1	115596001	Splice_Site	SNP	G	TCGA-AB-2808-03D-01W-0755-09	337257	115596001	133654620	4	99											
CTNNA2	1496	genome.wustl.edu	37	2	80085262	80085262	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr2:80085262C>T	ENST00000402739.4	+	3	427	c.422C>T	c.(421-423)gCg>gTg	p.A141V	CTNNA2_ENST00000541047.1_Missense_Mutation_p.A141V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A141V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A175V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A141V|CTNNA2_ENST00000466387.1_Missense_Mutation_p.A141V	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	141					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.A141V(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCATCCTGGCGGACATGGCA	0.498																																						dbGAP											2	Substitution - Missense(2)	lung(2)	2											73	72	73					2																	80085262		2045	4190	6235	79938770	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"cadherin-associated protein, related", "cancer/testis antigen 114"	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.422C>T	2.37:g.80085262C>T	ENSP00000384638:p.Ala141Val	41	6.82	3					79938770	44	53.68	51	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	PatternScan_VINCULIN_1,HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin	p.A141V	ENST00000402739.4	37	c.422		2	.	.	.	.	.	.	.	.	.	.	C	36	5.968190	0.97156	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.74336	0.3703	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.998	T	0.79169	-0.1914	10	0.54805	T	0.06	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	141;141;141	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	V	141;141;175;141;141;141	ENSP00000418191:A141V;ENSP00000419295:A141V;ENSP00000355398:A175V;ENSP00000384638:A141V;ENSP00000444675:A141V;ENSP00000441705:A141V	ENSP00000355398:A175V	A	+	2	0	CTNNA2	79938770	1.000000	0.71417	0.981000	0.43875	0.994000	0.84299	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	GCG	-	HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin		0.498	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	protein_coding	OTTHUMT00000328511.4	C	NM_004389		79938770	1	no_errors	NM_004389.2	genbank	human	validated	54_36p	missense	SNP	0.999	T	T	80085262	C	T	80085262	3	4	7	1	0	0	0	0	1	0	0	0	4013	768	27	1	432	1	CTNNA2	2	80085262	Missense_Mutation	SNP	C	TCGA-AB-2808-03D-01W-0755-09		80085262	163114111	5	100											
FILIP1	27145	genome.wustl.edu	37	6	76022883	76022883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr6:76022883G>A	ENST00000237172.7	-	5	2995	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	FILIP1_ENST00000393004.2_Nonsense_Mutation_p.R889*|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.R790*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	889										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAATTTGTTCGGGGCCCTTTC	0.537																																						dbGAP											0			6											72	74	73					6																	76022883		2203	4300	6503	76079603	SO:0001587	stop_gained	0			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2665C>T	6.37:g.76022883G>A	ENSP00000237172:p.Arg889*	106	6.19	7					76079603	139	47.15	124	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	HMMPfam_CortBP2	p.R889*	ENST00000237172.7	37	c.2665	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.420566	0.99166	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.67	2.85	0.33270	.	0.290655	0.32868	N	0.005550	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.4341	10.6349	0.45558	0.0:0.1173:0.377:0.5057	.	.	.	.	X	889;889;790	.	ENSP00000237172:R889X	R	-	1	2	FILIP1	76079603	0.986000	0.35501	0.031000	0.17742	0.410000	0.31052	3.024000	0.49674	0.299000	0.22661	0.563000	0.77884	CGA	-	NULL		0.537	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	protein_coding	OTTHUMT00000041263.1	G	XM_029179		76079603	-1	no_errors	NM_015687.2	genbank	human	validated	54_36p	nonsense	SNP	0.294	A	A	76022883	G	A	76022883	4	1	7	1	0	0	0	0	0	1	0	0	5894	1124	39	1	984	1	FILIP1	6	76022883	Nonsense_Mutation	SNP	G	TCGA-AB-2808-03D-01W-0755-09		76022883	95092184	6	101											
C6orf174	387104	genome.wustl.edu	37	6	127796938	127796938	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr6:127796938G>T	ENST00000525778.1	-	6	2978	c.2233C>A	c.(2233-2235)Cgc>Agc	p.R745S	SOGA3_ENST00000481848.2_Missense_Mutation_p.R745S|SOGA3_ENST00000368268.2_Missense_Mutation_p.R745S|SOGA3_ENST00000556132.1_Missense_Mutation_p.R745S|SOGA3_ENST00000465909.2_Missense_Mutation_p.R745S|SOGA3_ENST00000474293.2_5'Flank			Q5TF21	SOGA3_HUMAN	SOGA family member 3	745					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGGCTGCCGCGGATGCCCAGG	0.677																																						dbGAP											0			6											50	58	55					6																	127796938		2159	4275	6434	127838631	SO:0001583	missense	0			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 174"	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2233C>A	6.37:g.127796938G>T	ENSP00000434570:p.Arg745Ser	10	0	0					127838631	15	51.61	16		Missense_Mutation	SNP	NULL	p.R745S	ENST00000525778.1	37	c.2233	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909983	0.72983	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.24353	0.0590	L	0.53249	1.67	0.80722	D	1	P	0.38767	0.646	B	0.38020	0.263	T	0.14420	-1.0473	10	0.87932	D	0	-13.309	13.5963	0.61991	0.0:0.0:0.8447:0.1553	.	745	Q5TF21	CF174_HUMAN	S	745	ENSP00000451768:R745S;ENSP00000357251:R745S;ENSP00000434570:R745S;ENSP00000435559:R745S	ENSP00000435559:R745S	R	-	1	0	C6orf174	127838631	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.989000	0.70587	2.411000	0.81874	0.462000	0.41574	CGC	-	NULL		0.677	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C6orf174	protein_coding	OTTHUMT00000388246.1	G	NM_001012279		127838631	-1	no_errors	NM_001012279.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	127796938	G	T	127796938	3	4	7	1	0	0	0	0	1	0	0	0	2345	1116	39	4	618	4	C6orf174	6	127796938	Missense_Mutation	SNP	G	TCGA-AB-2808-03D-01W-0755-09	51774055	127796938	43318129	7	102											
CSMD3	114788	genome.wustl.edu	37	8	113651047	113651047	+	Missense_Mutation	SNP	C	C	T	rs143602091		TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr8:113651047C>T	ENST00000297405.5	-	21	3648	c.3404G>A	c.(3403-3405)cGc>cAc	p.R1135H	CSMD3_ENST00000352409.3_Missense_Mutation_p.R1135H|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1095H|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1031H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1135	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCAGTCAGGCGTGCCAGTGG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0			8						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	116	112	114		3092,3404,3284	5.4	1	8	dbSNP_134	114	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	29,29,29	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	probably-damaging,probably-damaging,probably-damaging	1031/3539,1135/3708,1095/3668	113651047	3,13003	2203	4300	6503	113720223	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3404G>A	8.37:g.113651047C>T	ENSP00000297405:p.Arg1135His	74	5.13	4					113720223	95	34.23	51	Q96PZ3	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain	p.R1135H	ENST00000297405.5	37	c.3404	CCDS6315.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	29.1	4.980584	0.92982	0.0	3.49E-4	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.20069	2.1;2.1;2.1;2.1;2.1	5.36	5.36	0.76844	CUB (5);	0.000000	0.64402	D	0.000001	T	0.53158	0.1779	M	0.85462	2.755	0.45621	D	0.998551	D;D;D	0.89917	1.0;1.0;0.981	D;D;D	0.91635	0.999;0.999;0.961	T	0.56565	-0.7958	10	0.48119	T	0.1	.	19.0774	0.93168	0.0:1.0:0.0:0.0	.	1031;1135;1095	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	1095;1135;475;1031;1135	ENSP00000345799:R1095H;ENSP00000297405:R1135H;ENSP00000341558:R475H;ENSP00000412263:R1031H;ENSP00000343124:R1135H	ENSP00000297405:R1135H	R	-	2	0	CSMD3	113720223	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.792000	0.85828	2.529000	0.85273	0.491000	0.48974	CGC	-	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113720223	-1	no_errors	NM_198123.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	113651047	C	T	113651047	3	4	7	1	0	0	0	0	1	0	0	0	3946	768	27	1	7923	1	CSMD3	8	113651047	Missense_Mutation	SNP	C	TCGA-AB-2808-03D-01W-0755-09		113651047	32712975	8	103											
LAMA3	3909	genome.wustl.edu	37	18	21394427	21394427	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr18:21394427T>C	ENST00000313654.9	+	15	2090	c.1849T>C	c.(1849-1851)Tat>Cat	p.Y617H	LAMA3_ENST00000399516.3_Missense_Mutation_p.Y617H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	617	Domain V.|Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CAAACTGTTATATTGGAATCT	0.358																																						dbGAP											0			18											145	136	139					18																	21394427		1822	4089	5911	19648425	SO:0001583	missense	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"Laminins"	6483	protein-coding gene	gene with protein product		600805	"laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1849T>C	18.37:g.21394427T>C	ENSP00000324532:p.Tyr617His	53	5.36	3					19648425	101	48.24	96	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	HMMPfam_Laminin_B,HMMSmart_SM00282,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00281,PatternScan_CHAPERONINS_CPN60,superfamily_EGF/Laminin	p.Y617H	ENST00000313654.9	37	c.1849	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167289	0.57476	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.56103	0.48;0.48	5.64	4.45	0.53987	EGF-like, laminin (3);	.	.	.	.	T	0.67268	0.2875	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.969	T	0.66106	-0.6006	9	0.44086	T	0.13	.	11.9406	0.52899	0.1303:0.0:0.0:0.8697	.	617;617	Q6VU67;Q16787	.;LAMA3_HUMAN	H	617;617;615	ENSP00000324532:Y617H;ENSP00000382432:Y617H	ENSP00000324532:Y617H	Y	+	1	0	LAMA3	19648425	1.000000	0.71417	0.875000	0.34327	0.364000	0.29643	5.864000	0.69575	0.912000	0.36772	0.528000	0.53228	TAT	-	HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,superfamily_EGF/Laminin		0.358	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	T	NM_000227, NM_198129		19648425	1	no_errors	NM_198129.3	genbank	human	reviewed	54_36p	missense	SNP	0.977	C	C	21394427	T	C	21394427	3	2	7	1	0	0	0	0	1	0	0	0	8607	1406	49	3	1907	3	LAMA3	18	21394427	Missense_Mutation	SNP	T	TCGA-AB-2808-03D-01W-0755-09		21394427	56682821	9	104											
CEBPA	1050	genome.wustl.edu	37	19	33792368	33792369	+	In_Frame_Ins	INS	-	-	TCA			TCGA-AB-2808-03D-01W-0755-09	TCGA-AB-2808-11D-01W-0755-09	-	-	-	TCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	06038210-fb82-4e20-8c82-d6695453eecb	92b4a800-c7d2-4f97-94fc-85d30528c574	g.chr19:33792368_33792369insTCA	ENST00000498907.2	-	1	1101_1102	c.952_953insTGA	c.(952-954)acc>aTGAcc	p.317_318insM	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	317	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L317_T318ins13(3)|p.H200_K352>Q(1)|p.?(1)|p.S319fs*11(1)|p.L317_T318insV(1)|p.L317_T318insL(1)|p.L317_T318insKVLEL(1)|p.L317_S319>L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ATTGTCACTGGTCAGCTCCAGC	0.658			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	10	Insertion - In frame(6)|Complex - deletion inframe(2)|Unknown(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(10)	19																																								38484209	SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.950_952dupTGA	19.37:g.33792369_33792371dupTCA	ENSP00000427514:p.Leu317_Thr318insMet	1	0	0		73	31.78	34	38484208	16	42.86	12	A7LNP2|P78319|Q05CA4	In_Frame_Ins	INS	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.318in_frame_insM	ENST00000498907.2	37	c.953_952	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.658	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	-	NM_004364		38484209	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.992:0.993	TCA	TCA	33792369	-	TCA	33792368	7	5	7	1	0	1	1	0	0	0	0	0	3199	1261	44	0	127	0	CEBPA	19	33792368	In_Frame_Ins	INS	-	TCGA-AB-2808-03D-01W-0755-09		33792368	25336615	10	105											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2809-03D-01W-0755-09	TCGA-AB-2809-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d86f567d-84f8-4a95-af1d-5a26ada92830	158c65f7-cfad-4a5f-a81b-9d869cd45ac3	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	906	19.7	223					25310746	65	38.32	41	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	8	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2809-03D-01W-0755-09		25457242	217742131	1	106											
STEAP2	261729	genome.wustl.edu	37	7	89856315	89856315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2809-03D-01W-0755-09	TCGA-AB-2809-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d86f567d-84f8-4a95-af1d-5a26ada92830	158c65f7-cfad-4a5f-a81b-9d869cd45ac3	g.chr7:89856315C>T	ENST00000287908.3	+	3	916	c.523C>T	c.(523-525)Cga>Tga	p.R175*	STEAP2_ENST00000402625.2_Nonsense_Mutation_p.R175*|STEAP2_ENST00000394622.2_Nonsense_Mutation_p.R175*|STEAP2_ENST00000394626.1_Nonsense_Mutation_p.R175*|STEAP2_ENST00000394632.1_Nonsense_Mutation_p.R175*|STEAP2_ENST00000394621.2_Nonsense_Mutation_p.R175*|STEAP2_ENST00000394629.2_Nonsense_Mutation_p.R175*	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	175					copper ion import (GO:0015677)|endocytosis (GO:0006897)|ferric iron import into cell (GO:0097461)|Golgi to plasma membrane transport (GO:0006893)|iron ion homeostasis (GO:0055072)|regulated secretory pathway (GO:0045055)|response to hormone (GO:0009725)	cytosol (GO:0005829)|early endosome (GO:0005769)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TATTCAAGCGCGACAACAGGT	0.393																																						dbGAP											0			7											90	89	89					7																	89856315		2203	4300	6503	89694251	SO:0001587	stop_gained	0			AF455138	CCDS5615.1, CCDS43612.1, CCDS59064.1	7q21.13	2011-09-30	2011-09-30		ENSG00000157214	ENSG00000157214			17885	protein-coding gene	gene with protein product		605094	"prostate cancer associated protein 1", "six transmembrane epithelial antigen of the prostate 2"	PCANAP1		10613842, 12095985	Standard	NM_001040665		Approved	IPCA-1, STAMP1, STMP	uc003ujz.3	Q8NFT2	OTTHUMG00000023341	ENST00000287908.3:c.523C>T	7.37:g.89856315C>T	ENSP00000287908:p.Arg175*	135	3.55	5					89694251	126	27.84	49	A4D1F1|G5E9C6|Q6UXN6|Q6YPB1|Q8IUE7	Nonsense_Mutation	SNP	HMMPfam_F420_oxidored,HMMPfam_Ferric_reduct,superfamily_NAD(P)-binding Rossmann-fold domains	p.R175*	ENST00000287908.3	37	c.523	CCDS5615.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.538731	0.96474	.	.	ENSG00000157214	ENST00000428074;ENST00000287908;ENST00000394626;ENST00000394622;ENST00000394632;ENST00000394624;ENST00000394621;ENST00000402625;ENST00000394629	.	.	.	6.17	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-8.1478	17.0333	0.86467	0.1283:0.8716:0.0:0.0	.	.	.	.	X	175	.	ENSP00000287908:R175X	R	+	1	2	STEAP2	89694251	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.839000	0.48207	1.613000	0.50231	0.655000	0.94253	CGA	-	HMMPfam_F420_oxidored,superfamily_NAD(P)-binding Rossmann-fold domains		0.393	STEAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP2	protein_coding	OTTHUMT00000059662.4	C	NM_152999		89694251	1	no_errors	NM_001040665.1	genbank	human	reviewed	54_36p	nonsense	SNP	0.992	T	T	89856315	C	T	89856315	4	4	8	1	0	0	0	0	0	1	0	0	15277	760	27	1	529	1	STEAP2	7	89856315	Nonsense_Mutation	SNP	C	TCGA-AB-2809-03D-01W-0755-09		89856315	69282348	2	107											
NIN	51199	genome.wustl.edu	37	14	51224226	51224226	+	Silent	SNP	T	T	C			TCGA-AB-2809-03D-01W-0755-09	TCGA-AB-2809-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d86f567d-84f8-4a95-af1d-5a26ada92830	158c65f7-cfad-4a5f-a81b-9d869cd45ac3	g.chr14:51224226T>C	ENST00000382041.3	-	18	3712	c.3522A>G	c.(3520-3522)gaA>gaG	p.E1174E	NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Silent_p.E1174E|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Silent_p.E1174E|NIN_ENST00000245441.5_Silent_p.E1174E|NIN_ENST00000324330.9_Silent_p.E1174E	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1174					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTACTGAAGCTTCAGACTCCT	0.483			T	PDGFRB	MPD																																	dbGAP		Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0			14											124	130	128					14																	51224226		2203	4300	6503	50293976	SO:0001819	synonymous_variant	0			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"EF-hand domain containing"	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3522A>G	14.37:g.51224226T>C		202	7.34	16					50293976	124	34.55	66	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	HMMPfam_efhand,superfamily_EF-hand	p.E1174	ENST00000382041.3	37	c.3522	CCDS32079.1	14	.	.	.	.	.	.	.	.	.	.	T	0.013	-1.608437	0.00842	.	.	ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853	.	.	.	5.78	0.581	0.17407	.	.	.	.	.	T	0.25005	0.0607	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25433	-1.0132	4	.	.	.	-5.1454	5.3998	0.16288	0.0:0.1515:0.2795:0.569	.	.	.	.	G	665	.	.	S	-	1	0	NIN	50293976	0.072000	0.21174	0.920000	0.36463	0.091000	0.18340	0.642000	0.24735	-0.118000	0.11851	-0.376000	0.06991	AGC	-	NULL		0.483	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	protein_coding	OTTHUMT00000395207.2	T	NM_182946		50293976	-1	no_errors	NM_020921.3	genbank	human	reviewed	54_36p	silent	SNP	0.902	C	C	51224226	T	C	51224226	2	2	8	1	0	0	0	0	0	0	0	1	10417	1606	56	3		3	NIN	14	51224226	Silent	SNP	T	TCGA-AB-2809-03D-01W-0755-09		51224226	56125314	3	108											
NAPSA	9476	genome.wustl.edu	37	19	50862276	50862276	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2809-03D-01W-0755-09	TCGA-AB-2809-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d86f567d-84f8-4a95-af1d-5a26ada92830	158c65f7-cfad-4a5f-a81b-9d869cd45ac3	g.chr19:50862276C>T	ENST00000253719.2	-	8	1235	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	343					membrane protein proteolysis (GO:0033619)|proteolysis (GO:0006508)|surfactant homeostasis (GO:0043129)	alveolar lamellar body (GO:0097208)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)|peptidase activity (GO:0008233)	p.V343I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		ACCTGGATGACGTAATCATGG	0.557																																						dbGAP											1	Substitution - Missense(1)	kidney(1)	19											94	91	92					19																	50862276		2203	4300	6503	55554088	SO:0001583	missense	0			AF090386	CCDS12794.1	19q13.33	2011-08-25				ENSG00000131400			13395	protein-coding gene	gene with protein product	"kidney-derived aspartic protease-like protein"	605631					Standard	NM_004851		Approved	NAP1, NAPA, Kdap, KAP	uc002prx.3	O96009		ENST00000253719.2:c.1027G>A	19.37:g.50862276C>T	ENSP00000253719:p.Val343Ile	2523	2.85	74					55554088	73	29.13	30	Q8WWD9	Missense_Mutation	SNP	HMMPfam_Asp,PatternScan_ASP_PROTEASE,superfamily_Pept_Aspartic	p.V343I	ENST00000253719.2	37	c.1027	CCDS12794.1	19	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258115	0.23051	.	.	ENSG00000131400	ENST00000253719	T	0.59638	0.25	3.48	3.48	0.39840	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.268585	0.35870	N	0.002932	T	0.54287	0.1849	N	0.21282	0.65	0.44221	D	0.997051	D	0.76494	0.999	D	0.81914	0.995	T	0.50311	-0.8843	10	0.11794	T	0.64	.	7.083	0.25241	0.0:0.867:0.0:0.133	.	343	O96009	NAPSA_HUMAN	I	343	ENSP00000253719:V343I	ENSP00000253719:V343I	V	-	1	0	NAPSA	55554088	0.954000	0.32549	1.000000	0.80357	0.265000	0.26407	1.492000	0.35594	1.649000	0.50652	0.313000	0.20887	GTC	-	HMMPfam_Asp,superfamily_Pept_Aspartic		0.557	NAPSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPSA	protein_coding	OTTHUMT00000464714.1	C	NM_004851		55554088	-1	no_errors	NM_004851.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	50862276	C	T	50862276	3	4	8	1	0	0	0	0	1	0	0	0	10166	536	19	1	243	1	NAPSA	19	50862276	Missense_Mutation	SNP	C	TCGA-AB-2809-03D-01W-0755-09		50862276	8266707	4	109											
GPR88	54112	genome.wustl.edu	37	1	101004927	101004927	+	Silent	SNP	C	C	A			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr1:101004927C>A	ENST00000315033.4	+	2	844	c.405C>A	c.(403-405)gcC>gcA	p.A135A		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	135					G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuronal action potential (GO:0019228)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		GCCTCGTGGCCCTGAACCGCT	0.726																																						dbGAP											0			1											16	21	19					1																	101004927		2121	4261	6382	100777515	SO:0001819	synonymous_variant	0			AB042411	CCDS772.1	1p21.3	2012-08-21	2006-02-15		ENSG00000181656	ENSG00000181656		"GPCR / Class A : Orphans"	4539	protein-coding gene	gene with protein product		607468	"G-protein coupled receptor 88", "G protein coupled receptor 88"				Standard	NM_022049		Approved		uc001dth.3	Q9GZN0	OTTHUMG00000010981	ENST00000315033.4:c.405C>A	1.37:g.101004927C>A		15	6.25	1					100777515	18	52.5	21	Q29S24|Q6VN48	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.A135	ENST00000315033.4	37	c.405	CCDS772.1	1																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.726	GPR88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR88	protein_coding	OTTHUMT00000030212.1	C	NM_022049		100777515	1	no_errors	NM_022049.2	genbank	human	validated	54_36p	silent	SNP	0.994	A	A	101004927	C	A	101004927	2	1	9	1	0	0	0	0	0	0	0	1	6717	610	22	4		4	GPR88	1	101004927	Silent	SNP	C	TCGA-AB-2810-03B-01W-0728-08		101004927	148245694	1	110											
DCAF6	55827	genome.wustl.edu	37	1	167960544	167960544	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr1:167960544T>C	ENST00000312263.6	+	6	859	c.655T>C	c.(655-657)Tat>Cat	p.Y219H	DCAF6_ENST00000432587.2_Missense_Mutation_p.Y188H|DCAF6_ENST00000367840.3_Missense_Mutation_p.Y219H|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Missense_Mutation_p.Y219H	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	219					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGTACGAATATATGATCGGCG	0.393																																						dbGAP											0			1											116	102	107					1																	167960544		2203	4300	6503	166227168	SO:0001583	missense	0			AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	30002	protein-coding gene	gene with protein product		610494	"IQ motif and WD repeats 1"	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.655T>C	1.37:g.167960544T>C	ENSP00000311949:p.Tyr219His	68	20	17		8	55.56	10	166227168	122	48.33	116	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	HMMSmart_IQ,HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40	p.Y219H	ENST00000312263.6	37	c.655	CCDS30933.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.176583	0.94846	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.118698	0.64402	D	0.000015	T	0.64103	0.2568	L	0.52573	1.65	0.80722	D	1	D;D;D;B	0.89917	1.0;0.983;1.0;0.299	D;P;D;B	0.97110	0.999;0.877;1.0;0.086	T	0.63184	-0.6694	10	0.37606	T	0.19	.	16.2106	0.82151	0.0:0.0:0.0:1.0	.	188;219;219;219	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	H	219;188;219;219	ENSP00000356817:Y219H;ENSP00000396238:Y188H;ENSP00000311949:Y219H;ENSP00000356814:Y219H	ENSP00000311949:Y219H	Y	+	1	0	DCAF6	166227168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.555000	0.82223	2.238000	0.73509	0.397000	0.26171	TAT	-	HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40		0.393	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IQWD1	protein_coding	OTTHUMT00000083661.2	T	NM_018442		166227168	1	no_errors	NM_018442.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	167960544	T	C	167960544	3	2	9	1	0	0	0	0	1	0	0	0	4274	1406	49	3	677	3	DCAF6	1	167960544	Missense_Mutation	SNP	T	TCGA-AB-2810-03B-01W-0728-08	66955617	167960544	81290077	2	111											
CELSR3	1951	genome.wustl.edu	37	3	48699110	48699110	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr3:48699110T>C	ENST00000164024.4	-	1	1238	c.958A>G	c.(958-960)Aac>Gac	p.N320D	CELSR3_ENST00000544264.1_Missense_Mutation_p.N320D|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	320					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTGGCGGTTTGCGGCGCGA	0.697																																						dbGAP											0			3											44	49	48					3																	48699110		2183	4258	6441	48674114	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.958A>G	3.37:g.48699110T>C	ENSP00000164024:p.Asn320Asp	78	7.14	6					48674114	30	53.12	34	O75092	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_EGF/Laminin	p.N320D	ENST00000164024.4	37	c.958	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654928	0.88056	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.71341	-0.56;-0.56	5.73	5.73	0.89815	Cadherin-like (1);	.	.	.	.	T	0.73466	0.3590	N	0.19112	0.55	0.54753	D	0.999984	D;D	0.76494	0.997;0.999	D;D	0.75020	0.985;0.94	T	0.74722	-0.3569	9	0.40728	T	0.16	.	15.0051	0.71504	0.0:0.0:0.0:1.0	.	320;390	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	D	320	ENSP00000164024:N320D;ENSP00000445694:N320D	ENSP00000164024:N320D	N	-	1	0	CELSR3	48674114	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	3.260000	0.51523	2.198000	0.70561	0.533000	0.62120	AAC	-	NULL		0.697	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	T	NM_001407		48674114	-1	no_errors	NM_001407.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	48699110	T	C	48699110	3	2	9	1	0	0	0	0	1	0	0	0	3223	1841	64	3	9120	3	CELSR3	3	48699110	Missense_Mutation	SNP	T	TCGA-AB-2810-03B-01W-0728-08		48699110	149323320	3	112											
CADPS	8618	genome.wustl.edu	37	3	62518627	62518627	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr3:62518627C>T	ENST00000383710.4	-	13	2559	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	CADPS_ENST00000357948.3_Missense_Mutation_p.R720Q|CADPS_ENST00000283269.9_Missense_Mutation_p.R737Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	737					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATTTTCTGCCCGTTCAAGCAA	0.537																																						dbGAP											0			3											143	124	130					3																	62518627		2203	4300	6503	62493667	SO:0001583	missense	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2210G>A	3.37:g.62518627C>T	ENSP00000373215:p.Arg737Gln	238	4.8	12					62493667	135	44.4	111	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like	p.R737Q	ENST00000383710.4	37	c.2210	CCDS46858.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.620505|5.620505	0.96660|0.96660	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000468271;ENST00000478434|ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	.|T;T;T	.|0.31510	.|1.49;1.49;1.49	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.54854|0.54854	0.1884|0.1884	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;P;D;D	.|0.76494	.|0.99;0.953;0.999;0.995	.|P;B;D;P	.|0.72625	.|0.812;0.363;0.978;0.856	T|T	0.53380|0.53380	-0.8447|-0.8447	5|10	.|0.72032	.|D	.|0.01	.|.	19.9894|19.9894	0.97361|0.97361	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|720;737;737;737	.|Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4	.|.;.;CAPS1_HUMAN;.	R|Q	82;168|737;737;720;737	.|ENSP00000373215:R737Q;ENSP00000350632:R720Q;ENSP00000283269:R737Q	.|ENSP00000283269:R737Q	G|R	-|-	1|2	0|0	CADPS|CADPS	62493667|62493667	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.818000|7.818000	0.86416|0.86416	2.728000|2.728000	0.93425|0.93425	0.557000|0.557000	0.71058|0.71058	GGG|CGG	-	NULL		0.537	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62493667	-1	no_errors	NM_003716.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	62518627	C	T	62518627	3	4	9	1	0	0	0	0	1	0	0	0	2570	652	23	1	1996	1	CADPS	3	62518627	Missense_Mutation	SNP	C	TCGA-AB-2810-03B-01W-0728-08	13819517	62518627	135503803	4	113											
CMYA5	202333	genome.wustl.edu	37	5	79027652	79027652	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr5:79027652G>A	ENST00000446378.2	+	2	3095	c.3064G>A	c.(3064-3066)Gag>Aag	p.E1022K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1022					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAATGAACTTGAGCCTGATTC	0.433																																						dbGAP											0			5											60	56	57					5																	79027652		1902	4125	6027	79063408	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.3064G>A	5.37:g.79027652G>A	ENSP00000394770:p.Glu1022Lys	188	6.93	14					79063408	203	44.83	169	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like	p.E1022K	ENST00000446378.2	37	c.3064	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295417	0.23564	.	.	ENSG00000164309	ENST00000446378	T	0.51574	0.7	5.88	5.88	0.94601	.	0.117788	0.38492	N	0.001661	T	0.59046	0.2165	L	0.56769	1.78	0.20074	N	0.999934	D	0.67145	0.996	P	0.61070	0.883	T	0.53472	-0.8434	10	0.22109	T	0.4	.	13.7851	0.63105	0.0:0.1976:0.8024:0.0	.	1022	Q8N3K9	CMYA5_HUMAN	K	1022	ENSP00000394770:E1022K	ENSP00000394770:E1022K	E	+	1	0	CMYA5	79063408	0.372000	0.25064	0.815000	0.32552	0.034000	0.12701	1.075000	0.30716	2.791000	0.96007	0.563000	0.77884	GAG	-	NULL		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79063408	1	no_errors	NM_153610.3	genbank	human	validated	54_36p	missense	SNP	0.262	A	A	79027652	G	A	79027652	3	1	9	1	0	0	0	0	1	0	0	0	3590	1291	45	2	3070	2	CMYA5	5	79027652	Missense_Mutation	SNP	G	TCGA-AB-2810-03B-01W-0728-08		79027652	101887608	5	114											
FCHSD1	89848	genome.wustl.edu	37	5	141029103	141029103	+	Splice_Site	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr5:141029103C>T	ENST00000435817.2	-	5	284	c.234G>A	c.(232-234)agG>agA	p.R78R	FCHSD1_ENST00000519800.1_Intron|FCHSD1_ENST00000522783.1_Intron|FCHSD1_ENST00000523856.1_5'Flank|FCHSD1_ENST00000522126.1_Intron	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	78									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCTGCCCCTCCCCAGAG	0.642																																						dbGAP											0			5											33	39	37					5																	141029103		2156	4250	6406	141009287	SO:0001630	splice_region_variant	0			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.234-1G>A	5.37:g.141029103C>T		195	9.72	21		0	0	0	141009287	51	39.53	34	Q6UX75|Q86Y77|Q9NXX8	Silent	SNP	HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2	p.R78	ENST00000435817.2	37	c.234	CCDS47295.1	5																																																																																			-	HMMPfam_FCH,HMMSmart_SM00055		0.642	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCHSD1	protein_coding	OTTHUMT00000375282.2	C	NM_033449	Silent	141009287	-1	no_errors	NM_033449.1	genbank	human	provisional	54_36p	silent	SNP	0.999	T	T	141029103	C	T	141029103	5	4	9	1	0	0	0	0	0	0	1	0	5789	637	22	2	1902	2	FCHSD1	5	141029103	Splice_Site	SNP	C	TCGA-AB-2810-03B-01W-0728-08	62001451	141029103	39886157	6	115											
SMOC2	64094	genome.wustl.edu	37	6	169008890	169008890	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr6:169008890G>A	ENST00000356284.2	+	9	1098	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	SMOC2_ENST00000354536.5_Missense_Mutation_p.R304Q	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	293					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCCAAAGCCCGGGACCTGTAC	0.612																																						dbGAP											0			6											29	28	29					6																	169008890		2202	4299	6501	168750815	SO:0001583	missense	0			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"EF-hand domain containing"	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.878G>A	6.37:g.169008890G>A	ENSP00000348630:p.Arg293Gln	70	11.39	9					168750815	28	50.88	29	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	HMMPfam_Thyroglobulin_1,HMMSmart_TY,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin_1,HMMSmart_EFh,HMMPfam_Kazal_1,HMMSmart_KAZAL,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg,superfamily_SSF47473	p.R304Q	ENST00000356284.2	37	c.911	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	G	11.77	1.737126	0.30774	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.35421	1.32;1.31	5.15	3.06	0.35304	EF-hand-like domain (1);	0.265027	0.34223	N	0.004158	T	0.08537	0.0212	L	0.29908	0.895	0.39552	D	0.96899	B;B	0.28128	0.054;0.201	B;B	0.27170	0.03;0.077	T	0.09574	-1.0668	10	0.14252	T	0.57	-11.4368	4.5021	0.11869	0.3681:0.0:0.6319:0.0	.	293;304	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	Q	293;304;293	ENSP00000348630:R293Q;ENSP00000346537:R304Q	ENSP00000346537:R304Q	R	+	2	0	SMOC2	168750815	0.999000	0.42202	0.712000	0.30502	0.295000	0.27426	3.570000	0.53834	1.135000	0.42183	0.655000	0.94253	CGG	-	NULL		0.612	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	protein_coding	OTTHUMT00000043201.1	G			168750815	1	no_errors	NM_022138.1	genbank	human	provisional	54_36p	missense	SNP	0.973	A	A	169008890	G	A	169008890	3	1	9	1	0	0	0	0	1	0	0	0	14802	1116	39	1	945	1	SMOC2	6	169008890	Missense_Mutation	SNP	G	TCGA-AB-2810-03B-01W-0728-08		169008890	2106177	7	116											
UNC5B	219699	genome.wustl.edu	37	10	73051218	73051218	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr10:73051218C>T	ENST00000335350.6	+	10	1740	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P431S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	442					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCCCTCTGTGCCTCCTGACCT	0.617																																						dbGAP											0			10											70	68	68					10																	73051218		2203	4300	6503	72721224	SO:0001583	missense	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1324C>T	10.37:g.73051218C>T	ENSP00000334329:p.Pro442Ser	171	7.57	14					72721224	48	39.02	32	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin	p.P442S	ENST00000335350.6	37	c.1324	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361509	0.61403	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.49139	0.85;0.79	4.48	4.48	0.54585	.	0.257277	0.40302	N	0.001132	T	0.50292	0.1607	L	0.55990	1.75	0.58432	D	0.999997	P;P	0.47910	0.902;0.842	P;B	0.47430	0.547;0.345	T	0.44967	-0.9293	10	0.18710	T	0.47	-8.7683	17.527	0.87803	0.0:1.0:0.0:0.0	.	431;442	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	S	442;431	ENSP00000334329:P442S;ENSP00000362288:P431S	ENSP00000334329:P442S	P	+	1	0	UNC5B	72721224	1.000000	0.71417	0.986000	0.45419	0.717000	0.41224	5.898000	0.69838	2.194000	0.70268	0.655000	0.94253	CCT	-	NULL		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	C	NM_170744		72721224	1	no_errors	NM_170744.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	73051218	C	T	73051218	3	4	9	1	0	0	0	0	1	0	0	0	16989	739	26	2	1362	2	UNC5B	10	73051218	Missense_Mutation	SNP	C	TCGA-AB-2810-03B-01W-0728-08		73051218	62483529	8	117											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	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	103	103					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	186	9.66	20		153	51.27	162	88432938	64	42.98	49	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	T	90631934	C	T	90631934	3	4	9	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2810-03B-01W-0728-08		90631934	11899458	9	118											
TSHZ3	57616	genome.wustl.edu	37	19	31769978	31769978	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr19:31769978C>T	ENST00000240587.4	-	2	1048	c.721G>A	c.(721-723)Gac>Aac	p.D241N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	241					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGGTTGTCGTCGCGGTAATGC	0.587																																						dbGAP											0			19											237	211	220					19																	31769978		2203	4300	6503	36461818	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"Teashirt zinc fingers", "Homeoboxes / ZF class", "Zinc fingers, C2H2-type"	30700	protein-coding gene	gene with protein product	"teashirt 3"	614119	"zinc finger protein 537", "teashirt family zinc finger 3"	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.721G>A	19.37:g.31769978C>T	ENSP00000240587:p.Asp241Asn	1001	11.14	126					36461818	164	46.79	146	Q9H0G6|Q9P254	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1	p.D241N	ENST00000240587.4	37	c.721	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644786	0.87859	.	.	ENSG00000121297	ENST00000240587	T	0.19250	2.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	M	0.73962	2.25	0.80722	D	1	D	0.65815	0.995	D	0.79784	0.993	T	0.45542	-0.9254	10	0.49607	T	0.09	-31.7616	19.2151	0.93774	0.0:1.0:0.0:0.0	.	241	Q63HK5	TSH3_HUMAN	N	241	ENSP00000240587:D241N	ENSP00000240587:D241N	D	-	1	0	TSHZ3	36461818	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.484000	0.81180	2.509000	0.84616	0.655000	0.94253	GAC	-	NULL		0.587	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	protein_coding	OTTHUMT00000316743.2	C	NM_020856		36461818	-1	no_errors	NM_020856.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	31769978	C	T	31769978	3	4	9	1	0	0	0	0	1	0	0	0	16622	884	31	1	2528	1	TSHZ3	19	31769978	Missense_Mutation	SNP	C	TCGA-AB-2810-03B-01W-0728-08		31769978	27359005	10	119											
MEGF8	1954	genome.wustl.edu	37	19	42838272	42838272	+	Silent	SNP	G	G	A			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr19:42838272G>A	ENST00000251268.6	+	3	465	c.465G>A	c.(463-465)ccG>ccA	p.P155P	MEGF8_ENST00000334370.4_Silent_p.P155P	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	155	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCAGCCACCGGGTGTGTGTG	0.667																																						dbGAP											0			19											22	26	25					19																	42838272		1996	4146	6142	47530112	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.465G>A	19.37:g.42838272G>A		72	12.2	10		4	33.33	2	47530112	48	47.31	44	A8KAY0|O75097	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMSmart_EGF_CA,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Kelch_1,superfamily_Gal_oxid_central,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196	p.P155	ENST00000251268.6	37	c.465		19																																																																																			-	HMMSmart_EGF		0.667	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	protein_coding	OTTHUMT00000463854.1	G	NM_001410		47530112	1	no_errors	NM_001410.2	genbank	human	validated	54_36p	silent	SNP	0.000	A	A	42838272	G	A	42838272	2	1	9	1	0	0	0	0	0	0	0	1	9463	1103	39	1		1	MEGF8	19	42838272	Silent	SNP	G	TCGA-AB-2810-03B-01W-0728-08	11068294	42838272	16290711	11	120											
SYNGR4	23546	genome.wustl.edu	37	19	48878946	48878946	+	Silent	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr19:48878946C>T	ENST00000344846.2	+	4	658	c.408C>T	c.(406-408)ttC>ttT	p.F136F	SYNGR4_ENST00000595322.1_Intron|SYNGR4_ENST00000601610.1_Silent_p.F87F	NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	136	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCAAAGAGTTCCTCCTGGGGA	0.592																																						dbGAP											0			19											95	87	90					19																	48878946		2203	4300	6503	53570758	SO:0001819	synonymous_variant	0			AJ011733	CCDS12717.1	19q13.3	2008-07-04				ENSG00000105467			11502	protein-coding gene	gene with protein product		608373					Standard	NM_012451		Approved		uc002piz.3	O95473		ENST00000344846.2:c.408C>T	19.37:g.48878946C>T		591	9.47	62		0	100	1	53570758	49	45.05	41	Q3KP58	Silent	SNP	HMMPfam_MARVEL	p.F136	ENST00000344846.2	37	c.408	CCDS12717.1	19																																																																																			-	HMMPfam_MARVEL		0.592	SYNGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGR4	protein_coding	OTTHUMT00000465704.1	C			53570758	1	no_errors	NM_012451.2	genbank	human	reviewed	54_36p	silent	SNP	0.848	T	T	48878946	C	T	48878946	2	4	9	1	0	0	0	0	0	0	0	1	15448	854	30	2		2	SYNGR4	19	48878946	Silent	SNP	C	TCGA-AB-2810-03B-01W-0728-08	6040674	48878946	10250037	12	121											
CLDN14	23562	genome.wustl.edu	37	21	37833609	37833609	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chr21:37833609C>T	ENST00000399137.1	-	3	1251	c.385G>A	c.(385-387)Ggc>Agc	p.G129S	AP000695.4_ENST00000454980.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Missense_Mutation_p.G129S|CLDN14_ENST00000342108.2_Missense_Mutation_p.G129S|CLDN14_ENST00000399135.1_Missense_Mutation_p.G129S|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399139.1_Missense_Mutation_p.G129S	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	129					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						CACAGGAGGCCGGCCAGGATG	0.642																																						dbGAP											0			21											63	67	65					21																	37833609		2203	4300	6503	36755479	SO:0001583	missense	0			AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"Claudins"	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.385G>A	21.37:g.37833609C>T	ENSP00000382090:p.Gly129Ser	148	6.33	10					36755479	53	26.39	19		Missense_Mutation	SNP	HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN	p.G129S	ENST00000399137.1	37	c.385	CCDS13645.1	21	.	.	.	.	.	.	.	.	.	.	C	34	5.368293	0.95900	.	.	ENSG00000159261	ENST00000399139;ENST00000399137;ENST00000399135;ENST00000399136;ENST00000342108	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.94440	0.8211	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94523	0.7729	10	0.62326	D	0.03	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	129	O95500	CLD14_HUMAN	S	129	ENSP00000382092:G129S;ENSP00000382090:G129S;ENSP00000382087:G129S;ENSP00000382088:G129S;ENSP00000339292:G129S	ENSP00000339292:G129S	G	-	1	0	CLDN14	36755479	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.705000	0.84606	2.526000	0.85167	0.462000	0.41574	GGC	-	HMMPfam_PMP22_Claudin		0.642	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN14	protein_coding	OTTHUMT00000194697.1	C	NM_144492		36755479	-1	no_errors	NM_012130.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	37833609	C	T	37833609	3	4	9	1	0	0	0	0	1	0	0	0	3475	652	23	1	338	1	CLDN14	21	37833609	Missense_Mutation	SNP	C	TCGA-AB-2810-03B-01W-0728-08		37833609	10296286	13	122											
DMD	1756	genome.wustl.edu	37	X	31854905	31854905	+	Missense_Mutation	SNP	G	G	A	rs201262489		TCGA-AB-2810-03B-01W-0728-08	TCGA-AB-2810-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0a3cc109-86cf-44a8-abf6-2c244c26656c	933b44ef-cb71-487d-8354-af1e55554415	g.chrX:31854905G>A	ENST00000357033.4	-	49	7336	c.7130C>T	c.(7129-7131)cCg>cTg	p.P2377L	DMD_ENST00000378677.2_Missense_Mutation_p.P2373L|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2377					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCCACATCCGGTTGTTTAGC	0.373													G|||	1	0.000264901	0	0	3775	,	,		12820	0		0	False		,,,				2504	0.001					dbGAP											0			X						G	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO,,,,,	0,3833		0,0,1631,571	181	154	163		7106,7130,6761,7118,6761,3107,3098,,,,,	4.8	1	X		163	1,6727		0,1,2427,1872	yes	missense,missense,missense,missense,missense,missense,missense,utr-5,utr-5,utr-5,utr-5,utr-5	DMD	NM_000109.3,NM_004006.2,NM_004007.2,NM_004009.3,NM_004010.3,NM_004011.3,NM_004012.3,NM_004013.2,NM_004020.3,NM_004021.2,NM_004022.2,NM_004023.2	98,98,98,98,98,98,98,,,,,	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign,benign,benign,benign,benign,,,,,	2369/3678,2377/3686,2254/3563,2373/3682,2254/3563,1036/2345,1033/2342,,,,,	31854905	1,10560	2202	4300	6502	31764826	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"muscular dystrophy, Duchenne and Becker types"	300377	"dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272", "mental retardation, X-linked 85"	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.7130C>T	X.37:g.31854905G>A	ENSP00000354923:p.Pro2377Leu	112	7.38	9					31764826	209	42.93	161	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,superfamily_Prefoldin,superfamily_t-snare proteins,HMMPfam_efhand_1,HMMPfam_efhand_2,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_EF-hand	p.P2377L	ENST00000357033.4	37	c.7130	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851814	0.32699	0.0	1.49E-4	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T;T	0.37235	1.21;1.21;1.21	5.63	4.77	0.60923	.	0.227351	0.21302	U	0.076791	T	0.21590	0.0520	L	0.27053	0.805	0.80722	D	1	B;B;B;P;P	0.38745	0.006;0.003;0.003;0.645;0.645	B;B;B;B;B	0.26770	0.004;0.002;0.002;0.073;0.049	T	0.02991	-1.1085	10	0.33940	T	0.23	.	12.0544	0.53527	0.0818:0.0:0.9182:0.0	.	2369;2377;2373;1036;1033	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	L	2369;1036;1033;73;2373;2377;2377;2254	ENSP00000350765:P73L;ENSP00000367948:P2373L;ENSP00000354923:P2377L	ENSP00000354923:P2377L	P	-	2	0	DMD	31764826	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.012000	0.57131	1.138000	0.42230	0.415000	0.27848	CCG	-	superfamily_Spectrin repeat		0.373	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	G	NM_004006		31764826	-1	no_errors	NM_004006.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	31854905	G	A	31854905	3	1	9	1	0	0	0	0	1	0	0	0	4580	1116	39	1	4199	1	DMD	23	31854905	Missense_Mutation	SNP	G	TCGA-AB-2810-03B-01W-0728-08		31854905	123415655	14	123											
CFLAR	8837	genome.wustl.edu	37	2	201994828	201994828	+	Silent	SNP	G	G	A			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr2:201994828G>A	ENST00000309955.3	+	2	755	c.240G>A	c.(238-240)gaG>gaA	p.E80E	CFLAR_ENST00000457277.1_Silent_p.E80E|CFLAR_ENST00000494258.1_5'Flank|CFLAR_ENST00000355558.4_Silent_p.E80E|CFLAR_ENST00000479953.2_5'Flank|CFLAR_ENST00000340870.5_Silent_p.E80E|CFLAR_ENST00000423241.2_Silent_p.E80E|CFLAR_ENST00000341222.6_Silent_p.E80E|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000341582.6_Silent_p.E80E|CFLAR_ENST00000395148.2_Silent_p.E80E|CFLAR_ENST00000440180.1_Silent_p.E80E|CFLAR_ENST00000342795.5_Silent_p.E80E	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	80	Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of myoblast fusion (GO:1901740)|positive regulation of catalytic activity (GO:0043085)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of necroptotic process (GO:0060544)|regulation of satellite cell proliferation (GO:0014842)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|skeletal myofibril assembly (GO:0014866)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|ripoptosome (GO:0097342)	cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|enzyme activator activity (GO:0008047)|protease binding (GO:0002020)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AAGCTGTGGAGACCCACCTGC	0.517																																					Pancreas(16;548 657 22190 32864 42338)	dbGAP											0			2											94	83	87					2																	201994828		2203	4300	6503	201703073	SO:0001819	synonymous_variant	0			AF005774	CCDS2337.1, CCDS46487.1, CCDS56157.1, CCDS56158.1, CCDS59436.1	2q33-q34	2014-01-30			ENSG00000003402	ENSG00000003402		"Endogenous ligands"	1876	protein-coding gene	gene with protein product		603599		CASP8AP1		9208847, 9217161	Standard	NM_003879		Approved	CASH, Casper, CLARP, FLAME, FLIP, I-FLICE, MRIT, c-FLIP	uc002uxb.4	O15519	OTTHUMG00000132819	ENST00000309955.3:c.240G>A	2.37:g.201994828G>A		51	5.56	3		62	54.41	74	201703073	98	42.44	73	B4DJE0|B7Z9F9|O14673|O14674|O14675|O15137|O15138|O15356|O15510|O43618|O43619|O43620|O60458|O60459|Q53TS6|Q54AF1|Q96TE4|Q9UEW1	Silent	SNP	HMMPfam_DED,HMMSmart_SM00031,superfamily_DEATH domain,HMMPfam_Peptidase_C14,HMMSmart_SM00115,superfamily_Caspase-like	p.E80	ENST00000309955.3	37	c.240	CCDS2337.1	2																																																																																			-	NULL		0.517	CFLAR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CFLAR	protein_coding	OTTHUMT00000256276.3	G	NM_003879		201703073	1	no_errors	NM_003879.1	genbank	human	validated	54_36p	silent	SNP	0.938	A	A	201994828	G	A	201994828	2	1	10	1	0	0	0	0	0	0	0	1	3292	933	33	2		2	CFLAR	2	201994828	Silent	SNP	G	TCGA-AB-2812-03B-01W-0728-08		201994828	41204545	1	124											
NPM1	4869	genome.wustl.edu	37	5	170837545	170837546	+	Frame_Shift_Ins	INS	-	-	TGCA			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	-	-	-	TGCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr5:170837545_170837546insTGCA	ENST00000296930.5	+	11	1162_1163	c.861_862insTGCA	c.(862-864)tggfs	p.W288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.W288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.W259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(12)|p.W288fs*>9(2)|p.W288fs*10(2)|p.L287F(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCAAGATCTCTGGCAGTGGAG	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	17	Insertion - Frameshift(14)|Complex - frameshift(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(17)	5																																								170770151	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837545_170837546insTGCA	ENSP00000296930:p.Trp288fs								170770150				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W287fs	ENST00000296930.5	37	c.861_862	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770151	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TGCA	TGCA	170837546	-	TGCA	170837545	7	5	10	1	0	1	1	0	0	0	0	0	10587	900	32	0	916	0	NPM1	5	170837545	Frame_Shift_Ins	INS	-	TCGA-AB-2812-03B-01W-0728-08		170837545	10077715	2	125											
PPP1R3A	5506	genome.wustl.edu	37	7	113519787	113519787	+	Missense_Mutation	SNP	G	G	T	rs372819857		TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr7:113519787G>T	ENST00000284601.3	-	4	1428	c.1360C>A	c.(1360-1362)Cct>Act	p.P454T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	454					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAGGGGCAAGGTATTTGCACT	0.393																																						dbGAP											0			7											99	90	93					7																	113519787		2203	4299	6502	113307023	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1360C>A	7.37:g.113519787G>T	ENSP00000284601:p.Pro454Thr	59	6.35	4					113307023	123	51.74	134	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	HMMPfam_CBM_21	p.P454T	ENST00000284601.3	37	c.1360	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657382	0.29425	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.30182	2.47;1.54	5.4	-1.53	0.08611	.	0.784816	0.11766	N	0.531586	T	0.15522	0.0374	N	0.22421	0.69	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.22068	-1.0227	10	0.59425	D	0.04	-1.6367	1.1856	0.01854	0.4791:0.1433:0.2396:0.138	.	454	Q16821	PPR3A_HUMAN	T	454;133	ENSP00000284601:P454T;ENSP00000401278:P133T	ENSP00000284601:P454T	P	-	1	0	PPP1R3A	113307023	0.000000	0.05858	0.000000	0.03702	0.065000	0.16274	0.058000	0.14301	-0.531000	0.06340	-0.367000	0.07326	CCT	-	NULL		0.393	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	G	NM_002711		113307023	-1	no_errors	NM_002711.3	genbank	human	reviewed	54_36p	missense	SNP	0.001	T	T	113519787	G	T	113519787	3	4	10	1	0	0	0	0	1	0	0	0	12371	1261	44	4	2012	4	PPP1R3A	7	113519787	Missense_Mutation	SNP	G	TCGA-AB-2812-03B-01W-0728-08		113519787	45618876	3	126											
NHLRC2	374354	genome.wustl.edu	37	10	115664656	115664656	+	Silent	SNP	T	T	C			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr10:115664656T>C	ENST00000369301.3	+	10	1997	c.1785T>C	c.(1783-1785)ccT>ccC	p.P595P		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	595										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CCAAACTACCTAAATCTGCTC	0.453																																						dbGAP											0			10											102	92	96					10																	115664656		2203	4300	6503	115654646	SO:0001819	synonymous_variant	0			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1785T>C	10.37:g.115664656T>C		53	8.62	5		15	16.67	3	115654646	136	43.9	108	Q8N1H1|Q8N5A6	Silent	SNP	HMMPfam_NHL,superfamily_Thioredoxin-like,superfamily_NHL repeat	p.P595	ENST00000369301.3	37	c.1785	CCDS7585.1	10																																																																																			-	NULL		0.453	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	protein_coding	OTTHUMT00000050446.1	T	NM_198514		115654646	1	no_errors	NM_198514.2	genbank	human	provisional	54_36p	silent	SNP	0.999	C	C	115664656	T	C	115664656	2	2	10	1	0	0	0	0	0	0	0	1	10406	1509	53	3		3	NHLRC2	10	115664656	Silent	SNP	T	TCGA-AB-2812-03B-01W-0728-08		115664656	19870091	4	127											
CNTN5	53942	genome.wustl.edu	37	11	100211915	100211915	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr11:100211915A>C	ENST00000524871.1	+	23	3298	c.3008A>C	c.(3007-3009)gAa>gCa	p.E1003A	CNTN5_ENST00000279463.3_Missense_Mutation_p.E1003A|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000418526.2_Missense_Mutation_p.E929A|CNTN5_ENST00000528682.1_Missense_Mutation_p.E1003A	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	1003	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTAGCCAACGAATCTGAAGTT	0.433																																						dbGAP											0			11											138	136	137					11																	100211915		1866	4109	5975	99717125	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.3008A>C	11.37:g.100211915A>C	ENSP00000435637:p.Glu1003Ala	88	5.38	5					99717125	211	41.14	151	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin	p.E1003A	ENST00000524871.1	37	c.3008	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971034	0.74246	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.46	5.46	0.80206	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74176	0.3682	M	0.83312	2.635	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.991;0.997	T	0.77413	-0.2597	9	.	.	.	.	14.7093	0.69215	1.0:0.0:0.0:0.0	.	929;1003	O94779-2;O94779	.;CNTN5_HUMAN	A	1003;1003;929;1003	ENSP00000436185:E1003A;ENSP00000435637:E1003A;ENSP00000393229:E929A;ENSP00000279463:E1003A	.	E	+	2	0	CNTN5	99717125	1.000000	0.71417	0.979000	0.43373	0.878000	0.50629	8.489000	0.90461	2.075000	0.62263	0.533000	0.62120	GAA	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.433	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	protein_coding	OTTHUMT00000395148.2	A	NM_014361		99717125	1	no_errors	NM_014361.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	100211915	A	C	100211915	3	2	10	1	0	0	0	0	1	0	0	0	3644	246	9	5	3090	5	CNTN5	11	100211915	Missense_Mutation	SNP	A	TCGA-AB-2812-03B-01W-0728-08		100211915	34794601	5	128											
GXYLT1	283464	genome.wustl.edu	37	12	42512850	42512850	+	Silent	SNP	T	T	C			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr12:42512850T>C	ENST00000398675.3	-	3	670	c.438A>G	c.(436-438)caA>caG	p.Q146Q	GXYLT1_ENST00000280876.6_Silent_p.Q115Q	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	146					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|O-glycan processing (GO:0016266)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-xylosyltransferase activity (GO:0035252)			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AAATATGGAATTGAAGAGGTT	0.348																																						dbGAP											0			12											85	78	80					12																	42512850		1896	4113	6009	40799117	SO:0001819	synonymous_variant	0			BC015597	CCDS41771.1, CCDS41772.1	12q12	2013-10-11	2009-11-17	2009-11-17	ENSG00000151233	ENSG00000151233		"Glycosyltransferase family 8 domain containing"	27482	protein-coding gene	gene with protein product		613321	"glycosyltransferase 8 domain containing 3"	GLT8D3		19940119	Standard	NM_001099650		Approved	FLJ43151	uc001rms.4	Q4G148	OTTHUMG00000169379	ENST00000398675.3:c.438A>G	12.37:g.42512850T>C		68	1.45	1		10	37.5	6	40799117	174	37.32	106	B3KWJ2|Q8IXV1|Q96BH4	Silent	SNP	HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases	p.Q146	ENST00000398675.3	37	c.438	CCDS41772.1	12																																																																																			-	HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases		0.348	GXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D3	protein_coding	OTTHUMT00000403778.1	T	XM_290597		40799117	-1	no_errors	NM_173601.1	genbank	human	validated	54_36p	silent	SNP	0.647	C	C	42512850	T	C	42512850	2	2	10	1	0	0	0	0	0	0	0	1	6903	1490	52	3		3	GXYLT1	12	42512850	Silent	SNP	T	TCGA-AB-2812-03B-01W-0728-08		42512850	91339045	6	129											
FKBP11	51303	genome.wustl.edu	37	12	49315953	49315953	+	Silent	SNP	C	C	A			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr12:49315953C>A	ENST00000550765.1	-	6	818	c.420G>T	c.(418-420)ctG>ctT	p.L140L	AC073610.5_ENST00000537495.1_3'UTR|RP11-302B13.5_ENST00000398092.4_Intron|CCDC65_ENST00000266984.5_Intron|FKBP11_ENST00000444214.2_Silent_p.L38L	NM_016594.2	NP_057678.1	Q9NYL4	FKB11_HUMAN	FK506 binding protein 11, 19 kDa	140	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(3)|lung(1)	5						TTAGTGCAATCAGCTCCACGT	0.547																																						dbGAP											0			12											94	88	90					12																	49315953		2203	4300	6503	47602220	SO:0001819	synonymous_variant	0			AF238079	CCDS8773.1, CCDS44870.1, CCDS44871.1	12q13.12	2008-08-04	2002-08-29			ENSG00000134285			18624	protein-coding gene	gene with protein product		610571	"FK506 binding protein 11 (19 kDa)"			12036304, 16596453	Standard	NM_016594		Approved	FKBP19	uc001rsp.3	Q9NYL4		ENST00000550765.1:c.420G>T	12.37:g.49315953C>A		79	1.23	1		22	31.25	10	47602220	166	45.45	140	B4DWB7	Silent	SNP	HMMPfam_FKBP_C,superfamily_SSF54534	p.L140	ENST00000550765.1	37	c.420	CCDS8773.1	12																																																																																			-	HMMPfam_FKBP_C,superfamily_SSF54534		0.547	FKBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP11	protein_coding	OTTHUMT00000408927.1	C	NM_016594		47602220	-1	no_errors	NM_016594.1	genbank	human	validated	54_36p	silent	SNP	0.997	A	A	49315953	C	A	49315953	2	1	10	1	0	0	0	0	0	0	0	1	5903	813	29	4		4	FKBP11	12	49315953	Silent	SNP	C	TCGA-AB-2812-03B-01W-0728-08	6803103	49315953	84535942	7	130											
FLT3	2322	genome.wustl.edu	37	13	28608256	28608257	+	In_Frame_Ins	INS	-	-	TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	-	-	-	TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr13:28608256_28608257insTCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	ENST00000241453.7	-	14	1880_1881	c.1799_1800insCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGA	c.(1798-1800)gat>gaCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGAt	p.600_600D>DSSDNEYFYVDFREYEYD	FLT3_ENST00000537084.1_In_Frame_Ins_p.600_600D>DSSDNEYFYVDFREYEYD|FLT3_ENST00000380982.4_In_Frame_Ins_p.600_600D>DSSDNEYFYVDFREYEYD	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	600					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins15(2)|p.Y599_D600ins12(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.D600_L601insVDFREYEY(1)|p.D600_L601ins28(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCATTTGAGATCATATTCATA	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	15	Insertion - In frame(14)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(15)	13																																								27506257	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1749_1799dupCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGA	13.37:g.28608256_28608257insTCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	ENSP00000241453:p.SerSerAspAsnGluTyrPheTyrValAspPheArgGluTyrGluTyrAsp600dup								27506256				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.601in_frame_insSSDNEYFYVDFREYEYD	ENST00000241453.7	37	c.1800_1799	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506257	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.998:1.000	TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	28608257	-	TCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAG	28608256	7	5	10	1	0	1	1	0	0	0	0	0	5942	330	12	0	1225	0	FLT3	13	28608256	In_Frame_Ins	INS	-	TCGA-AB-2812-03B-01W-0728-08		28608256	86561622	8	131											
SLC12A3	6559	genome.wustl.edu	37	16	56926951	56926951	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr16:56926951C>T	ENST00000563236.1	+	21	2531	c.2506C>T	c.(2506-2508)Ctc>Ttc	p.L836F	SLC12A3_ENST00000566786.1_Missense_Mutation_p.L844F|SLC12A3_ENST00000438926.2_Missense_Mutation_p.L845F|SLC12A3_ENST00000262502.5_Missense_Mutation_p.L835F			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	836					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CATCTACTGGCTCTTTGACGA	0.632																																						dbGAP											0			16											113	79	91					16																	56926951		2198	4300	6498	55484452	SO:0001583	missense	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2506C>T	16.37:g.56926951C>T	ENSP00000456149:p.Leu836Phe	30	0	0					55484452	112	47.47	103	A8MSJ2|C9JNN9	Missense_Mutation	SNP	HMMPfam_AA_permease,HMMPfam_AA_permease_N	p.L845F	ENST00000563236.1	37	c.2533	CCDS58464.1	16	.	.	.	.	.	.	.	.	.	.	C	14.09	2.433007	0.43224	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.23	4.27	0.50696	.	0.062091	0.64402	D	0.000003	T	0.79233	0.4411	M	0.92507	3.315	0.58432	D	0.999998	P;B;B	0.39782	0.688;0.224;0.332	P;B;B	0.46389	0.515;0.179;0.333	T	0.83324	-0.0016	9	0.87932	D	0	.	13.011	0.58731	0.0:0.9217:0.0:0.0783	.	844;836;845	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	F	844;845	.	ENSP00000262502:L845F	L	+	1	0	SLC12A3	55484452	1.000000	0.71417	0.982000	0.44146	0.066000	0.16364	3.876000	0.56115	1.201000	0.43203	0.655000	0.94253	CTC	-	NULL		0.632	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	C			55484452	1	no_errors	NM_000339.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	T	T	56926951	C	T	56926951	3	4	10	1	0	0	0	0	1	0	0	0	14384	797	28	2	2615	2	SLC12A3	16	56926951	Missense_Mutation	SNP	C	TCGA-AB-2812-03B-01W-0728-08		56926951	33427802	9	132											
TNNC2	7125	genome.wustl.edu	37	20	44453167	44453167	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2812-03B-01W-0728-08	TCGA-AB-2812-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e899a08c-13e5-4d91-8493-a97be4a59463	88f03d43-a9a5-464e-90d5-59a3033e1e8c	g.chr20:44453167G>T	ENST00000372555.3	-	3	258	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	TNNC2_ENST00000372557.1_Missense_Mutation_p.L41M	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	56	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	ATGGCGTCCAGCTCCTCCTTG	0.632																																						dbGAP											0			20											135	106	116					20																	44453167		2203	4300	6503	43886574	SO:0001583	missense	0				CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"EF-hand domain containing"	11944	protein-coding gene	gene with protein product		191039	"troponin C2, fast"			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.166C>A	20.37:g.44453167G>T	ENSP00000361636:p.Leu56Met	50	10.71	6		1	0	0	43886574	120	46.93	107	Q6FH92	Missense_Mutation	SNP	HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand	p.L56M	ENST00000372555.3	37	c.166	CCDS13375.1	20	.	.	.	.	.	.	.	.	.	.	G	17.23	3.337750	0.60963	.	.	ENSG00000101470	ENST00000372557;ENST00000372555	T;T	0.80304	-1.36;-1.36	4.49	-1.24	0.09435	EF-hand-like domain (1);	0.077015	0.53938	D	0.000059	D	0.87006	0.6070	M	0.80422	2.495	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.85350	0.1101	10	0.87932	D	0	-13.8369	9.5698	0.39420	0.5792:0.0:0.4208:0.0	.	56	P02585	TNNC2_HUMAN	M	41;56	ENSP00000361638:L41M;ENSP00000361636:L56M	ENSP00000361636:L56M	L	-	1	2	TNNC2	43886574	0.971000	0.33674	0.997000	0.53966	0.997000	0.91878	0.071000	0.14594	-0.088000	0.12506	0.557000	0.71058	CTG	-	HMMSmart_SM00054,HMMPfam_efhand,superfamily_EF-hand		0.632	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TNNC2	protein_coding	OTTHUMT00000079524.3	G	NM_003279		43886574	-1	no_errors	NM_003279.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	44453167	G	T	44453167	3	4	10	1	0	0	0	0	1	0	0	0	16322	962	34	4	332	4	TNNC2	20	44453167	Missense_Mutation	SNP	G	TCGA-AB-2812-03B-01W-0728-08		44453167	18572353	10	133											
GRIK3	2899	genome.wustl.edu	37	1	37307519	37307519	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr1:37307519G>A	ENST00000373091.3	-	10	1364	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	GRIK3_ENST00000373093.4_Missense_Mutation_p.R450W	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	450					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.R450W(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				TCTGATTTCCGAAACATGACG	0.567																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)	1											142	131	135					1																	37307519		2203	4300	6503	37080106	SO:0001583	missense	0			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1348C>T	1.37:g.37307519G>A	ENSP00000362183:p.Arg450Trp	470	1.04	5					37080106	109	30.19	48	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850,superfamily_SSF55620	p.R450W	ENST00000373091.3	37	c.1348	CCDS416.1	1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061139	0.55432	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.11930	2.73;2.73	4.95	4.03	0.46877	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.063724	0.64402	D	0.000006	T	0.35856	0.0946	M	0.80183	2.485	0.40728	D	0.982729	D;D	0.89917	1.0;1.0	D;D	0.63597	0.916;0.916	T	0.35025	-0.9805	10	0.87932	D	0	.	12.6274	0.56638	0.0:0.0:0.5737:0.4262	.	450;450	A9Z1Z8;Q13003	.;GRIK3_HUMAN	W	450	ENSP00000362183:R450W;ENSP00000362185:R450W	ENSP00000362183:R450W	R	-	1	2	GRIK3	37080106	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	3.851000	0.55926	1.195000	0.43115	0.655000	0.94253	CGG	-	HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53850		0.567	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK3	protein_coding	OTTHUMT00000012053.1	G	NM_000831		37080106	-1	no_errors	NM_000831.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	37307519	G	A	37307519	3	1	11	1	0	0	0	0	1	0	0	0	6775	1057	37	1	1439	1	GRIK3	1	37307519	Missense_Mutation	SNP	G	TCGA-AB-2813-03B-01W-0728-08		37307519	211943102	1	134											
SPRR4	163778	genome.wustl.edu	37	1	152944388	152944388	+	Missense_Mutation	SNP	C	C	T	rs201207143		TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr1:152944388C>T	ENST00000328051.2	+	2	71	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization (GO:0031424)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcagcagcggcagcagca	0.552																																						dbGAP											0			1						C	TRP/ARG	0,4406		0,0,2203	74	76	76		22	4.6	0.7	1		76	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SPRR4	NM_173080.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	8/80	152944388	1,13005	2203	4300	6503	151211012	SO:0001583	missense	0			AF335109	CCDS1031.1	1q21.3	2008-02-05	2006-11-29		ENSG00000184148	ENSG00000184148			23173	protein-coding gene	gene with protein product						11719550, 11279051	Standard	NM_173080		Approved		uc001fav.1	Q96PI1	OTTHUMG00000012450	ENST00000328051.2:c.22C>T	1.37:g.152944388C>T	ENSP00000332163:p.Arg8Trp	1083	2.59	29					151211012	203	39.83	137	Q2M1Y7|Q5T522	Missense_Mutation	SNP	HMMPfam_Cornifin	p.R8W	ENST00000328051.2	37	c.22	CCDS1031.1	1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385550	0.25031	0.0	1.16E-4	ENSG00000184148	ENST00000328051	T	0.20200	2.09	4.64	4.64	0.57946	.	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	0.999991	P	0.35050	0.482	B	0.11329	0.006	T	0.15435	-1.0437	8	0.59425	D	0.04	.	12.8501	0.57852	0.0:1.0:0.0:0.0	.	8	Q96PI1	SPRR4_HUMAN	W	8	ENSP00000332163:R8W	ENSP00000332163:R8W	R	+	1	2	SPRR4	151211012	0.008000	0.16893	0.651000	0.29564	0.485000	0.33311	0.622000	0.24433	2.395000	0.81488	0.460000	0.39030	CGG	-	HMMPfam_Cornifin		0.552	SPRR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR4	protein_coding	OTTHUMT00000034663.1	C	NM_173080		151211012	1	no_errors	NM_173080.1	genbank	human	provisional	54_36p	missense	SNP	0.928	T	T	152944388	C	T	152944388	3	4	11	1	0	0	0	0	1	0	0	0	15103	759	27	1	24	1	SPRR4	1	152944388	Missense_Mutation	SNP	C	TCGA-AB-2813-03B-01W-0728-08	115636869	152944388	96306233	2	135											
ZNF518B	85460	genome.wustl.edu	37	4	10445534	10445534	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr4:10445534A>T	ENST00000326756.3	-	3	2857	c.2419T>A	c.(2419-2421)Tta>Ata	p.L807I		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	807					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GGTTTTATTAACTGTCTTTCA	0.458																																						dbGAP											0			4											93	89	90					4																	10445534		2203	4300	6503	10054632	SO:0001583	missense	0			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"Zinc fingers, C2H2-type"	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.2419T>A	4.37:g.10445534A>T	ENSP00000317614:p.Leu807Ile	517	1.32	7		6	57.14	8	10054632	139	20.9	37	Q96LN8	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.L807I	ENST00000326756.3	37	c.2419	CCDS33960.1	4	.	.	.	.	.	.	.	.	.	.	A	15.56	2.868316	0.51588	.	.	ENSG00000178163	ENST00000326756	T	0.02258	4.37	6.02	-1.04	0.10068	.	0.280449	0.22033	N	0.065574	T	0.02304	0.0071	L	0.48642	1.525	0.09310	N	1	D	0.63880	0.993	B	0.44315	0.446	T	0.48525	-0.9028	10	0.34782	T	0.22	-4.7831	5.1051	0.14779	0.3178:0.3212:0.361:0.0	.	807	Q9C0D4	Z518B_HUMAN	I	807	ENSP00000317614:L807I	ENSP00000317614:L807I	L	-	1	2	ZNF518B	10054632	0.000000	0.05858	0.032000	0.17829	0.805000	0.45488	-0.260000	0.08708	-0.134000	0.11516	0.533000	0.62120	TTA	-	NULL		0.458	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF518B	protein_coding	OTTHUMT00000359040.1	A	NM_053042		10054632	-1	no_errors	NM_053042.2	genbank	human	validated	54_36p	missense	SNP	0.001	T	T	10445534	A	T	10445534	3	4	11	1	0	0	0	0	1	0	0	0	17960	40	2	5	809	5	ZNF518B	4	10445534	Missense_Mutation	SNP	A	TCGA-AB-2813-03B-01W-0728-08		10445534	180708742	3	136											
BBS12	166379	genome.wustl.edu	37	4	123664618	123664618	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr4:123664618A>G	ENST00000314218.3	+	2	1764	c.1571A>G	c.(1570-1572)tAt>tGt	p.Y524C	BBS12_ENST00000542236.1_Missense_Mutation_p.Y524C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	524			Y -> C (in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS2; uncertain pathological role). {ECO:0000269|PubMed:20120035}.		cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						ACATGTGCCTATCGTTTGTAT	0.393									Bardet-Biedl syndrome																													dbGAP											0			4											139	138	139					4																	123664618		2203	4300	6503	123884068	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"Heat Shock Proteins / Chaperonins"	26648	protein-coding gene	gene with protein product		610683	"chromosome 4 open reading frame 24"	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.1571A>G	4.37:g.123664618A>G	ENSP00000319062:p.Tyr524Cys	237	1.23	3		0	100	2	123884068	152	27.1	58	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like,superfamily_GroEL apical domain-like	p.Y524C	ENST00000314218.3	37	c.1571	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193831	0.58017	.	.	ENSG00000181004	ENST00000314218;ENST00000542236	T;T	0.77620	-1.11;-1.11	5.71	-1.02	0.10135	.	0.412804	0.27126	N	0.020820	T	0.68988	0.3061	M	0.61703	1.905	0.30546	N	0.765983	B	0.26708	0.157	B	0.29785	0.107	T	0.60068	-0.7335	10	0.37606	T	0.19	-25.9999	6.2015	0.20579	0.4533:0.3544:0.1923:0.0	.	524	Q6ZW61	BBS12_HUMAN	C	524	ENSP00000319062:Y524C;ENSP00000438273:Y524C	ENSP00000319062:Y524C	Y	+	2	0	BBS12	123884068	0.975000	0.34042	0.070000	0.20053	0.932000	0.56968	1.527000	0.35975	-0.372000	0.07992	0.482000	0.46254	TAT	-	HMMPfam_Cpn60_TCP1,superfamily_GroEL equatorial domain-like		0.393	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	protein_coding	OTTHUMT00000256710.1	A	NM_152618		123884068	1	no_errors	NM_152618.2	genbank	human	validated	54_36p	missense	SNP	0.790	G	G	123664618	A	G	123664618	3	3	11	1	0	0	0	0	1	0	0	0	1337	449	16	3	1573	3	BBS12	4	123664618	Missense_Mutation	SNP	A	TCGA-AB-2813-03B-01W-0728-08	113219084	123664618	67489658	4	137											
DLD	1738	genome.wustl.edu	37	7	107556026	107556026	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr7:107556026G>A	ENST00000205402.5	+	9	1041	c.760G>A	c.(760-762)Gat>Aat	p.D254N	DLD_ENST00000537148.1_Missense_Mutation_p.D155N|DLD_ENST00000437604.2_Missense_Mutation_p.D206N|DLD_ENST00000440410.1_Missense_Mutation_p.D231N	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	254					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	AGTTGGAATTGATATGGAGAT	0.363																																						dbGAP											0			7											114	114	114					7																	107556026		2203	4300	6503	107343262	SO:0001583	missense	0			AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"	238331	"dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.760G>A	7.37:g.107556026G>A	ENSP00000205402:p.Asp254Asn	220	1.33	3		48	42.35	36	107343262	118	37.17	71	B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Missense_Mutation	SNP	HMMPfam_Pyr_redox,HMMPfam_Pyr_redox_dim,PatternScan_PYRIDINE_REDOX_1,HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked_reductase_dimer,superfamily_SSF51905	p.D254N	ENST00000205402.5	37	c.760	CCDS5749.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.882041	0.97062	.	.	ENSG00000091140	ENST00000205402;ENST00000417551;ENST00000537148;ENST00000440410;ENST00000437604;ENST00000539590	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.98	5.98	0.97165	Pyridine nucleotide-disulphide oxidoreductase, NAD-binding domain (1);Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.89670	0.6782	H	0.97940	4.11	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92571	0.6066	10	0.87932	D	0	-14.4955	20.4366	0.99092	0.0:0.0:1.0:0.0	.	231;206;254	E9PEX6;B4DT69;P09622	.;.;DLDH_HUMAN	N	254;254;155;231;206;204	ENSP00000205402:D254N;ENSP00000390667:D254N;ENSP00000442399:D155N;ENSP00000417016:D231N;ENSP00000387542:D206N	ENSP00000205402:D254N	D	+	1	0	DLD	107343262	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.837000	0.97791	0.591000	0.81541	GAT	-	HMMPfam_Pyr_redox,HMMPfam_Pyr_redox_2,superfamily_SSF51905		0.363	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLD	protein_coding	OTTHUMT00000337194.3	G	NM_000108		107343262	1	no_errors	NM_000108.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	107556026	G	A	107556026	3	1	11	1	0	0	0	0	1	0	0	0	4551	1290	45	2	794	2	DLD	7	107556026	Missense_Mutation	SNP	G	TCGA-AB-2813-03B-01W-0728-08		107556026	51582637	5	138											
ECM2	1842	genome.wustl.edu	37	9	95279998	95279998	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr9:95279998C>T	ENST00000344604.5	-	3	601	c.452G>A	c.(451-453)gGg>gAg	p.G151E	ECM2_ENST00000375540.1_Missense_Mutation_p.G151E|CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.G151E	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	151	VWFC. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GCAGCATTCCCCTTCAGGTAT	0.463																																						dbGAP											0			9											155	164	161					9																	95279998		2203	4300	6503	94319819	SO:0001583	missense	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"matrix glycoprotein SC1/ECM2"	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.452G>A	9.37:g.95279998C>T	ENSP00000344758:p.Gly151Glu	525	2.58	14		2	50	2	94319819	128	43.53	101	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_LRR_1,superfamily_SSF52058	p.G151E	ENST00000344604.5	37	c.452	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	3.996662	0.74818	.	.	ENSG00000106823	ENST00000444490;ENST00000344604;ENST00000375540;ENST00000395534	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.34	5.34	0.76211	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.97110	0.99;1.0;1.0;1.0	D	0.90504	0.4476	10	0.87932	D	0	.	19.4243	0.94735	0.0:1.0:0.0:0.0	.	151;151;151;151	Q5T9F3;O94769;B4DK93;O94769-2	.;ECM2_HUMAN;.;.	E	151	ENSP00000393971:G151E;ENSP00000344758:G151E;ENSP00000364690:G151E;ENSP00000378905:G151E	ENSP00000344758:G151E	G	-	2	0	ECM2	94319819	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	4.914000	0.63348	2.671000	0.90904	0.563000	0.77884	GGG	-	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1		0.463	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	protein_coding	OTTHUMT00000053091.1	C	NM_001393		94319819	-1	no_errors	NM_001393.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	95279998	C	T	95279998	3	4	11	1	0	0	0	0	1	0	0	0	4898	623	22	2	1679	2	ECM2	9	95279998	Missense_Mutation	SNP	C	TCGA-AB-2813-03B-01W-0728-08		95279998	45933433	6	139											
CACNA1B	774	genome.wustl.edu	37	9	141016357	141016357	+	Missense_Mutation	SNP	G	G	A	rs199734998		TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr9:141016357G>A	ENST00000371372.1	+	47	7071	c.6926G>A	c.(6925-6927)cGc>cAc	p.R2309H	CACNA1B_ENST00000277551.2_3'UTR|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R2308H|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R1503H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R2310H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R2307H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2309					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTCCGCCGCGTGCCCAAC	0.647																																						dbGAP											0			9											43	48	46					9																	141016357		2127	4216	6343	140136178	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6926G>A	9.37:g.141016357G>A	ENSP00000360423:p.Arg2309His	77	4.82	4					140136178	31	43.64	24	B1AQK5	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.R2309H	ENST00000371372.1	37	c.6926	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.632242	0.96682	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97378	-4.12;-4.36;-4.12;-4.11;-4.11	5.12	5.12	0.69794	.	0.219149	0.40469	N	0.001099	D	0.98216	0.9410	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.951	D	0.99297	1.0900	10	0.72032	D	0.01	.	18.5462	0.91047	0.0:0.0:1.0:0.0	.	2308;2307	B1AQK7;B1AQK6	.;.	H	2309;1503;2307;2308;2310	ENSP00000360423:R2309H;ENSP00000277549:R1503H;ENSP00000360414:R2307H;ENSP00000360408:R2308H;ENSP00000360406:R2310H	ENSP00000277549:R1503H	R	+	2	0	CACNA1B	140136178	0.997000	0.39634	0.979000	0.43373	0.950000	0.60333	4.604000	0.61112	2.385000	0.81259	0.561000	0.74099	CGC	-	NULL		0.647	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140136178	1	no_errors	NM_000718.2	genbank	human	validated	54_36p	missense	SNP	0.988	A	A	141016357	G	A	141016357	3	1	11	1	0	0	0	0	1	0	0	0	2539	1087	38	1	7108	1	CACNA1B	9	141016357	Missense_Mutation	SNP	G	TCGA-AB-2813-03B-01W-0728-08	45736359	141016357	197074	7	140											
FAT3	120114	genome.wustl.edu	37	11	92532290	92532290	+	Silent	SNP	G	G	T			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr11:92532290G>T	ENST00000298047.6	+	9	6128	c.6111G>T	c.(6109-6111)acG>acT	p.T2037T	FAT3_ENST00000525166.1_Silent_p.T1887T|FAT3_ENST00000409404.2_Silent_p.T2037T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2037	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCATTCAGACGACTGGAGTCC	0.473										TCGA Ovarian(4;0.039)																												dbGAP											0			11											55	56	56					11																	92532290		1876	4113	5989	92171938	SO:0001819	synonymous_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"Cadherins / Cadherin-related"	23112	protein-coding gene	gene with protein product	"cadherin-related family member 10"	612483	"FAT tumor suppressor homolog 3 (Drosophila)"			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6111G>T	11.37:g.92532290G>T		333	0.3	1					92171938	67	40	46	B5MDB0|Q96AU6	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.T2037	ENST00000298047.6	37	c.6111		11																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like		0.473	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		G	NM_001008781		92171938	1	no_errors	NM_001008781.2	genbank	human	validated	54_36p	silent	SNP	0.992	T	T	92532290	G	T	92532290	2	4	11	1	0	0	0	0	0	0	0	1	5691	1045	37	4		4	FAT3	11	92532290	Silent	SNP	G	TCGA-AB-2813-03B-01W-0728-08		92532290	42474226	8	141											
GNPTAB	79158	genome.wustl.edu	37	12	102179965	102179965	+	Silent	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr12:102179965G>A	ENST00000299314.7	-	5	658	c.396C>T	c.(394-396)caC>caT	p.H132H	GNPTAB_ENST00000549940.1_Silent_p.H132H	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	132					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTTAATGCAGTGTGTTAGCA	0.438																																						dbGAP											0			12											91	88	89					12																	102179965		2203	4300	6503	100704096	SO:0001819	synonymous_variant	0			AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"EF-hand domain containing"	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.396C>T	12.37:g.102179965G>A		791	1.12	9		56	40.43	38	100704096	194	39.88	130	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Silent	SNP	HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain,HMMPfam_DMAP_binding,PatternScan_EF_HAND_1	p.H132	ENST00000299314.7	37	c.396	CCDS9088.1	12																																																																																			-	NULL		0.438	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTAB	protein_coding	OTTHUMT00000409182.1	G			100704096	-1	no_errors	NM_024312.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	102179965	G	A	102179965	2	1	11	1	0	0	0	0	0	0	0	1	6545	1020	36	2		2	GNPTAB	12	102179965	Silent	SNP	G	TCGA-AB-2813-03B-01W-0728-08		102179965	31671930	9	142											
OR11H12	440153	genome.wustl.edu	37	14	19377885	19377885	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr14:19377885G>A	ENST00000550708.1	+	1	364	c.292G>A	c.(292-294)Gtc>Atc	p.V98I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGATGTTGGTCAACTTCCT	0.403																																						dbGAP											0			14											5	5	5					14																	19377885		1140	2684	3824	18447885	SO:0001583	missense	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.292G>A	14.37:g.19377885G>A	ENSP00000449002:p.Val98Ile	154	0.65	1					18447885	64	30.53	29		Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.V98I	ENST00000550708.1	37	c.292	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	g	4.149	0.026111	0.08054	.	.	ENSG00000257115	ENST00000550708	T	0.00397	7.57	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.641649	0.12586	N	0.456032	T	0.00241	0.0007	L	0.33753	1.03	0.21325	N	0.99972	B	0.12630	0.006	B	0.12156	0.007	T	0.04427	-1.0952	9	0.45353	T	0.12	.	7.1009	0.25336	1.0E-4:0.0:0.9999:0.0	.	98	B2RN74	O11HC_HUMAN	I	98	ENSP00000449002:V98I	ENSP00000449002:V98I	V	+	1	0	CR383656.1	18447885	0.000000	0.05858	0.939000	0.37840	0.255000	0.26057	-2.575000	0.00910	0.619000	0.30197	0.064000	0.15345	GTC	-	HMMPfam_7tm_1,superfamily_SSF81321		0.403	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	protein_coding	OTTHUMT00000408402.1	G	NM_001013354		18447885	1	no_errors	NM_001013354.1	genbank	human	provisional	54_36p	missense	SNP	0.016	A	A	19377885	G	A	19377885	3	1	11	1	0	0	0	0	1	0	0	0	10927	1261	44	2	294	2	OR11H12	14	19377885	Missense_Mutation	SNP	G	TCGA-AB-2813-03B-01W-0728-08		19377885	87971655	10	143											
SLC38A6	145389	genome.wustl.edu	37	14	61517241	61517241	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr14:61517241T>A	ENST00000267488.4	+	13	1053	c.937T>A	c.(937-939)Tca>Aca	p.S313T	SLC38A6_ENST00000354886.2_Missense_Mutation_p.S313T|SLC38A6_ENST00000456840.2_Missense_Mutation_p.S290T	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	313					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CAAAGTGGAGTCAGAATTACT	0.308																																						dbGAP											0			14											104	98	100					14																	61517241		2202	4297	6499	60586994	SO:0001583	missense	0			AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"Solute carriers"	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.937T>A	14.37:g.61517241T>A	ENSP00000267488:p.Ser313Thr	665	2.19	15		4	66.67	8	60586994	155	35.39	86	C9JWA6|Q86SY5	Missense_Mutation	SNP	HMMPfam_Aa_trans	p.S313T	ENST00000267488.4	37	c.937	CCDS9751.1	14	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003349	0.54254	.	.	ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840;ENST00000529212	T;T;T;T;T	0.02216	4.39;4.39;4.39;4.39;4.39	5.92	4.75	0.60458	.	0.245082	0.43110	D	0.000601	T	0.05960	0.0155	M	0.76328	2.33	0.51482	D	0.999925	P;P;P	0.39717	0.684;0.633;0.537	B;B;B	0.43508	0.422;0.297;0.231	T	0.12041	-1.0563	10	0.51188	T	0.08	-1.897	12.1627	0.54113	0.0:0.0673:0.0:0.9327	.	290;313;313	E7ETF2;Q8IZM9-2;Q8IZM9	.;.;S38A6_HUMAN	T	313;313;308;290;86	ENSP00000346959:S313T;ENSP00000267488:S313T;ENSP00000395851:S308T;ENSP00000413863:S290T;ENSP00000437190:S86T	ENSP00000267488:S313T	S	+	1	0	SLC38A6	60586994	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.248000	0.51430	1.022000	0.39626	0.528000	0.53228	TCA	-	HMMPfam_Aa_trans		0.308	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A6	protein_coding	OTTHUMT00000276957.1	T			60586994	1	no_errors	NM_153811.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	61517241	T	A	61517241	3	1	11	1	0	0	0	0	1	0	0	0	14608	1667	58	5	987	5	SLC38A6	14	61517241	Missense_Mutation	SNP	T	TCGA-AB-2813-03B-01W-0728-08	42139356	61517241	45832299	11	144											
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr17:7578403C>T	ENST00000269305.4	-	5	716	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_Missense_Mutation_p.C176Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGTGGGGGCAGCGCCTCAC	0.652		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)	17											49	49	49					17																	7578403		2203	4300	6503	7519128	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.527G>A	17.37:g.7578403C>T	ENSP00000269305:p.Cys176Tyr	691	2.49	18		1	98.78	81	7519128	46	76.47	156	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.C176Y	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.497871	0.85069	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62;-10.62	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.997;0.998;0.998;0.997;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176Y;ENSP00000352610:C176Y;ENSP00000269305:C176Y;ENSP00000398846:C176Y;ENSP00000391127:C176Y;ENSP00000391478:C176Y;ENSP00000425104:C44Y;ENSP00000423862:C83Y	ENSP00000269305:C176Y	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519128	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	7578403	C	T	7578403	3	4	11	1	0	0	0	0	1	0	0	0	16378	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-AB-2813-03B-01W-0728-08		7578403	73616807	12	145											
MYO5B	4645	genome.wustl.edu	37	18	47518701	47518701	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr18:47518701T>C	ENST00000285039.7	-	6	1012	c.713A>G	c.(712-714)aAc>aGc	p.N238S		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	238	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTCCTCATGTTGGCCCCGAT	0.488																																						dbGAP											0			18											239	227	231					18																	47518701		1971	4159	6130	45772699	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.713A>G	18.37:g.47518701T>C	ENSP00000285039:p.Asn238Ser	1810	1.09	20		1	0	0	45772699	96	61.99	168	B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.N238S	ENST00000285039.7	37	c.713	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	T	20.9	4.073390	0.76415	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.87491	-2.26	5.65	5.65	0.86999	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	L	0.52266	1.64	0.80722	D	1	B;B	0.25719	0.132;0.042	B;B	0.29353	0.101;0.015	T	0.78280	-0.2265	10	0.08179	T	0.78	.	15.8433	0.78868	0.0:0.0:0.0:1.0	.	237;238	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	S	238;237	ENSP00000285039:N238S	ENSP00000285039:N238S	N	-	2	0	MYO5B	45772699	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.149000	0.71795	2.279000	0.76181	0.533000	0.62120	AAC	-	HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.488	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	T			45772699	-1	no_errors	NM_001080467.1	genbank	human	provisional	54_36p	missense	SNP	1.000	C	C	47518701	T	C	47518701	3	2	11	1	0	0	0	0	1	0	0	0	10079	1725	60	3	4973	3	MYO5B	18	47518701	Missense_Mutation	SNP	T	TCGA-AB-2813-03B-01W-0728-08		47518701	30558547	13	146											
KIAA1683	80726	genome.wustl.edu	37	19	18376918	18376918	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chr19:18376918T>C	ENST00000600328.3	-	3	1625	c.1432A>G	c.(1432-1434)Aag>Gag	p.K478E	KIAA1683_ENST00000600359.3_Missense_Mutation_p.K432E|KIAA1683_ENST00000392413.4_Missense_Mutation_p.K478E			Q9H0B3	K1683_HUMAN	KIAA1683	478						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GATGAAGTCTTGGACATTGTG	0.607																																						dbGAP											0			19											77	81	80					19																	18376918		2203	4300	6503	18237918	SO:0001583	missense	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1432A>G	19.37:g.18376918T>C	ENSP00000470780:p.Lys478Glu	517	2.44	13		3	40	2	18237918	92	36.55	53	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.K478E	ENST00000600328.3	37	c.1432	CCDS32958.1	19	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088199	0.36855	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634	T;T;T	0.12569	2.75;2.7;2.67	4.48	4.48	0.54585	.	.	.	.	.	T	0.14141	0.0342	L	0.52011	1.625	0.09310	N	1	B;B	0.31193	0.312;0.312	B;B	0.32980	0.156;0.156	T	0.17258	-1.0375	9	0.22109	T	0.4	.	10.0987	0.42491	0.0:0.0:0.0:1.0	.	478;478	E9PDE0;Q9H0B3	.;K1683_HUMAN	E	478;478;432	ENSP00000376213:K478E;ENSP00000352774:K478E;ENSP00000404501:K432E	ENSP00000352774:K478E	K	-	1	0	KIAA1683	18237918	0.977000	0.34250	0.059000	0.19551	0.008000	0.06430	1.942000	0.40243	1.880000	0.54463	0.459000	0.35465	AAG	-	NULL		0.607	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	protein_coding	OTTHUMT00000466312.3	T			18237918	-1	no_errors	NM_025249.1	genbank	human	validated	54_36p	missense	SNP	0.020	C	C	18376918	T	C	18376918	3	2	11	1	0	0	0	0	1	0	0	0	8251	1821	63	3	2679	3	KIAA1683	19	18376918	Missense_Mutation	SNP	T	TCGA-AB-2813-03B-01W-0728-08		18376918	40752065	14	147											
NKRF	55922	genome.wustl.edu	37	X	118723959	118723959	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chrX:118723959G>A	ENST00000371527.1	-	2	2081	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.R492C|NKRF_ENST00000304449.5_Missense_Mutation_p.R477C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	477					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						CATTTCCAGCGGAGGCCTGTC	0.438																																						dbGAP											0			X											99	98	98					X																	118723959		2203	4300	6503	118607987	SO:0001583	missense	0			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"G patch domain containing"	19374	protein-coding gene	gene with protein product		300440	"NF-kappaB repressing factor"			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1429C>T	X.37:g.118723959G>A	ENSP00000360582:p.Arg477Cys	125	0.79	1		9	0	0	118607987	62	14.86	11	G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_dsrm,HMMSmart_SM00358,HMMPfam_R3H,HMMSmart_SM00393,superfamily_dsRNA-binding domain-like,superfamily_R3H domain	p.R477C	ENST00000371527.1	37	c.1429	CCDS35375.1	X	.	.	.	.	.	.	.	.	.	.	G	14.11	2.438062	0.43326	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.77620	-1.11;-1.11;-1.11	5.6	4.71	0.59529	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.152294	0.56097	D	0.000033	T	0.77150	0.4088	L	0.50333	1.59	0.58432	D	0.999992	D	0.64830	0.994	P	0.49502	0.613	T	0.79945	-0.1589	10	0.72032	D	0.01	-9.8017	11.9766	0.53096	0.0:0.0:0.6931:0.3069	.	477	O15226	NKRF_HUMAN	C	477;477;492	ENSP00000360582:R477C;ENSP00000304803:R477C;ENSP00000442308:R492C	ENSP00000304803:R477C	R	-	1	0	NKRF	118607987	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.091000	0.57700	2.343000	0.79666	0.600000	0.82982	CGC	-	HMMSmart_SM00358,superfamily_dsRNA-binding domain-like		0.438	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKRF	protein_coding	OTTHUMT00000058044.1	G	NM_017544		118607987	-1	no_errors	NM_017544.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	118723959	G	A	118723959	3	1	11	1	0	0	0	0	1	0	0	0	10447	1116	39	1	647	1	NKRF	23	118723959	Missense_Mutation	SNP	G	TCGA-AB-2813-03B-01W-0728-08		118723959	36546601	15	148											
OR13H1	347468	genome.wustl.edu	37	X	130678091	130678091	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2813-03B-01W-0728-08	TCGA-AB-2813-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7e85a885-3db1-4382-a10d-7cdce016ddb4	fb24b4e8-ad6e-4397-97f4-1421fe8abb24	g.chrX:130678091T>C	ENST00000338616.3	+	1	142	c.44T>C	c.(43-45)aTt>aCt	p.I15T		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTTCTCCTTATTGGCATTTCT	0.393																																						dbGAP											0			X											219	173	188					X																	130678091		2203	4300	6503	130505772	SO:0001583	missense	0				CCDS35396.1	Xq26.2	2012-08-23			ENSG00000171054	ENSG00000171054		"GPCR / Class A : Olfactory receptors"	14755	protein-coding gene	gene with protein product							Standard	NM_001004486		Approved		uc011muw.2	Q8NG92	OTTHUMG00000022411	ENST00000338616.3:c.44T>C	X.37:g.130678091T>C	ENSP00000340748:p.Ile15Thr	427	3.16	14					130505772	38	82.95	219	B2RNQ3|Q6IET8|Q96R12	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.I15T	ENST00000338616.3	37	c.44	CCDS35396.1	X	.	.	.	.	.	.	.	.	.	.	T	12.61	1.989316	0.35131	.	.	ENSG00000171054	ENST00000338616	T	0.00585	6.39	4.63	4.63	0.57726	.	0.000000	0.40222	U	0.001158	T	0.00666	0.0022	N	0.11000	0.08	0.24804	N	0.99268	D	0.54772	0.968	P	0.50970	0.655	T	0.61178	-0.7115	10	0.87932	D	0	.	10.9448	0.47294	0.0:0.0:0.0:1.0	.	15	Q8NG92	O13H1_HUMAN	T	15	ENSP00000340748:I15T	ENSP00000340748:I15T	I	+	2	0	OR13H1	130505772	0.019000	0.18553	0.997000	0.53966	0.363000	0.29612	0.815000	0.27253	1.707000	0.51288	0.417000	0.27973	ATT	-	superfamily_SSF81321		0.393	OR13H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13H1	protein_coding	OTTHUMT00000058297.1	T			130505772	1	no_errors	NM_001004486.1	genbank	human	provisional	54_36p	missense	SNP	0.890	C	C	130678091	T	C	130678091	3	2	11	1	0	0	0	0	1	0	0	0	10943	1493	52	3	46	3	OR13H1	23	130678091	Missense_Mutation	SNP	T	TCGA-AB-2813-03B-01W-0728-08	11954132	130678091	24592469	16	149											
HSD3B1	3283	genome.wustl.edu	37	1	120054278	120054278	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chr1:120054278G>A	ENST00000369413.3	+	3	443	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	HSD3B1_ENST00000235547.6_Missense_Mutation_p.V102I|HSD3B1_ENST00000528909.1_Missense_Mutation_p.V100I			P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	100					androgen biosynthetic process (GO:0006702)|estrogen biosynthetic process (GO:0006703)|glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|smooth endoplasmic reticulum membrane (GO:0030868)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|steroid delta-isomerase activity (GO:0004769)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	Trilostane(DB01108)	TATCATGAATGTCAATGTGAA	0.512																																						dbGAP											0			1											111	103	106					1																	120054278		2203	4300	6503	119855801	SO:0001583	missense	0			S45679	CCDS903.1	1p12	2014-06-03			ENSG00000203857	ENSG00000203857	1.1.1.145, 5.3.3.1	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	5217	protein-coding gene	gene with protein product	"short chain dehydrogenase/reductase family 11E, member 1"	109715		HSDB3, HSD3B		2779585, 19027726	Standard	NM_000862		Approved	SDR11E1	uc001ehv.1	P14060	OTTHUMG00000012525	ENST00000369413.3:c.298G>A	1.37:g.120054278G>A	ENSP00000358421:p.Val100Ile	170	0	0					119855801	288	22.4	84	A8K691|Q14545|Q8IV65	Missense_Mutation	SNP	HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd	p.V100I	ENST00000369413.3	37	c.298	CCDS903.1	1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.394750	0.25205	.	.	ENSG00000203857	ENST00000369413;ENST00000235547;ENST00000528909	D;D;D	0.89123	-2.47;-2.47;-2.47	3.11	2.18	0.27775	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.131467	0.50627	D	0.000107	T	0.72061	0.3414	L	0.44542	1.39	0.34549	D	0.711118	B;B	0.21753	0.06;0.059	B;B	0.32289	0.116;0.143	T	0.58567	-0.7614	9	.	.	.	0.1042	4.9615	0.14068	0.2868:0.0:0.7132:0.0	.	102;100	Q5TDG2;P14060	.;3BHS1_HUMAN	I	100;102;100	ENSP00000358421:V100I;ENSP00000235547:V102I;ENSP00000432268:V100I	.	V	+	1	0	HSD3B1	119855801	0.834000	0.29399	0.290000	0.24890	0.027000	0.11550	1.109000	0.31135	0.499000	0.27970	0.313000	0.20887	GTC	-	HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd		0.512	HSD3B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD3B1	protein_coding	OTTHUMT00000034993.3	G	NM_000862		119855801	1	no_errors	NM_000862.2	genbank	human	validated	54_36p	missense	SNP	0.976	A	A	120054278	G	A	120054278	3	1	12	1	0	0	0	0	1	0	0	0	7390	1377	48	2	304	2	HSD3B1	1	120054278	Missense_Mutation	SNP	G	TCGA-AB-2814-03D-01W-0755-09		120054278	129196343	1	150											
ATP11B	23200	genome.wustl.edu	37	3	182583253	182583253	+	Missense_Mutation	SNP	G	G	A	rs200423302		TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chr3:182583253G>A	ENST00000323116.5	+	13	1470	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	404					aminophospholipid transport (GO:0015917)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|ion transmembrane transporter activity (GO:0015075)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			GGTAGAGTACGTGTTTACAGA	0.348																																						dbGAP											0			3											95	94	95					3																	182583253		2203	4300	6503	184065947	SO:0001583	missense	0			AF156548	CCDS33896.1	3q27	2010-04-20	2007-09-19		ENSG00000058063	ENSG00000058063		"ATPases / P-type"	13553	protein-coding gene	gene with protein product		605869	"ATPase, Class VI, type 11B"			10231032, 11015572	Standard	NM_014616		Approved	ATPIF, ATPIR, KIAA0956	uc003flb.3	Q9Y2G3	OTTHUMG00000158295	ENST00000323116.5:c.1210G>A	3.37:g.182583253G>A	ENSP00000321195:p.Val404Met	50	0	0		53	41.76	38	184065947	94	31.16	43	Q96FN1|Q9UKK7	Missense_Mutation	SNP	HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660	p.V404M	ENST00000323116.5	37	c.1210	CCDS33896.1	3	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950745	0.73787	.	.	ENSG00000058063	ENST00000323116	T	0.63744	-0.06	5.58	4.71	0.59529	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.118725	0.56097	D	0.000030	T	0.77356	0.4118	M	0.88640	2.97	0.80722	D	1	P	0.46784	0.884	P	0.50970	0.655	T	0.83037	-0.0159	10	0.87932	D	0	.	16.6731	0.85271	0.0:0.1298:0.8702:0.0	.	404	Q9Y2G3	AT11B_HUMAN	M	404	ENSP00000321195:V404M	ENSP00000321195:V404M	V	+	1	0	ATP11B	184065947	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	6.690000	0.74567	1.355000	0.45865	-0.162000	0.13425	GTG	-	HMMPfam_Hydrolase,superfamily_SSF56784		0.348	ATP11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP11B	protein_coding	OTTHUMT00000350598.1	G	NM_014616		184065947	1	no_errors	NM_014616.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	182583253	G	A	182583253	3	1	12	1	0	0	0	0	1	0	0	0	1120	1145	40	1	1260	1	ATP11B	3	182583253	Missense_Mutation	SNP	G	TCGA-AB-2814-03D-01W-0755-09		182583253	15439177	2	151											
PMPCB	9512	genome.wustl.edu	37	7	102939894	102939894	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chr7:102939894G>T	ENST00000249269.4	+	3	283	c.245G>T	c.(244-246)gGa>gTa	p.G82V	PMPCB_ENST00000428154.1_Missense_Mutation_p.G82V|PMPCB_ENST00000420236.2_5'UTR	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	82					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATTAAGGTTGGACTCTGGATT	0.368																																						dbGAP											0			7											110	104	107					7																	102939894		2203	4300	6503	102727130	SO:0001583	missense	0			AF054182	CCDS5730.1	7q22.1	2007-07-30			ENSG00000105819	ENSG00000105819			9119	protein-coding gene	gene with protein product		603131				9653160	Standard	XM_005250717		Approved	MPPB, MPPP52	uc003vbl.3	O75439	OTTHUMG00000157205	ENST00000249269.4:c.245G>T	7.37:g.102939894G>T	ENSP00000249269:p.Gly82Val	94	1.05	1		57	56.82	75	102727130	130	32.47	63	O60416|Q96FV4	Missense_Mutation	SNP	PatternScan_INSULINASE,HMMPfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16	p.G82V	ENST00000249269.4	37	c.245	CCDS5730.1	7	.	.	.	.	.	.	.	.	.	.	G	25.7	4.666631	0.88251	.	.	ENSG00000105819	ENST00000249269;ENST00000428154	T;T	0.20738	2.05;2.05	5.12	5.12	0.69794	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	H	0.99238	4.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.83239	-0.0059	10	0.87932	D	0	.	18.9858	0.92769	0.0:0.0:1.0:0.0	.	82;82;82	B3KM34;O75439;G3V0E4	.;MPPB_HUMAN;.	V	82	ENSP00000249269:G82V;ENSP00000390035:G82V	ENSP00000249269:G82V	G	+	2	0	PMPCB	102727130	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.813000	0.99286	2.551000	0.86045	0.650000	0.86243	GGA	-	superfamily_Metalloenz_metal-bd,HMMPfam_Peptidase_M16		0.368	PMPCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCB	protein_coding	OTTHUMT00000347913.1	G	NM_004279		102727130	1	no_errors	NM_004279.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	102939894	G	T	102939894	3	4	12	1	0	0	0	0	1	0	0	0	12141	1174	41	4	255	4	PMPCB	7	102939894	Missense_Mutation	SNP	G	TCGA-AB-2814-03D-01W-0755-09		102939894	56198769	3	152											
CACNA1B	774	genome.wustl.edu	37	9	140943767	140943767	+	Splice_Site	SNP	C	C	T			TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chr9:140943767C>T	ENST00000371372.1	+	24	3855	c.3710C>T	c.(3709-3711)tCa>tTa	p.S1237L	CACNA1B_ENST00000277551.2_Splice_Site_p.S1237L|CACNA1B_ENST00000277549.5_Splice_Site_p.S429L|CACNA1B_ENST00000371363.1_Splice_Site_p.S1237L|CACNA1B_ENST00000371355.4_Splice_Site_p.S1238L|CACNA1B_ENST00000371357.1_Splice_Site_p.S1238L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1237					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TTTGCTTTCTCGTAAGTAACG	0.567																																						dbGAP											0			9											125	121	122					9																	140943767		2070	4206	6276	140063588	SO:0001630	splice_region_variant	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3710+1C>T	9.37:g.140943767C>T		265	0.38	1					140063588	236	36.8	138	B1AQK5	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.S1237L	ENST00000371372.1	37	c.3710	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.927202	0.97110	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03;-5.03	5.13	5.13	0.70059	.	1.141480	0.06318	N	0.703971	D	0.98764	0.9584	L	0.42245	1.32	0.80722	D	1	B;D;D	0.71674	0.174;0.998;0.998	B;D;D	0.63283	0.049;0.913;0.913	D	0.95258	0.8366	10	0.87932	D	0	.	18.1658	0.89724	0.0:1.0:0.0:0.0	.	1237;1238;1237	B1AQK4;B1AQK7;B1AQK6	.;.;.	L	1237;1237;429;1237;1238;1238	ENSP00000360423:S1237L;ENSP00000277551:S1237L;ENSP00000277549:S429L;ENSP00000360414:S1237L;ENSP00000360408:S1238L;ENSP00000360406:S1238L	ENSP00000277549:S429L	S	+	2	0	CACNA1B	140063588	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.698000	0.84413	2.386000	0.81285	0.491000	0.48974	TCA;TCA;TCG;TCA;TCA;TCA	-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	C	NM_000718	Missense_Mutation	140063588	1	no_errors	NM_000718.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	140943767	C	T	140943767	5	4	12	1	0	0	0	0	0	0	1	0	2539	898	31	1	3804	1	CACNA1B	9	140943767	Splice_Site	SNP	C	TCGA-AB-2814-03D-01W-0755-09		140943767	269664	4	153											
FLT3	2322	genome.wustl.edu	37	13	28592640	28592640	+	Missense_Mutation	SNP	A	A	C	rs121913487|rs121913486		TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chr13:28592640A>C	ENST00000241453.7	-	20	2586	c.2505T>G	c.(2503-2505)gaT>gaG	p.D835E	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.D835E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.?(23)|p.D835E(11)|p.D835_I836>V(1)|p.D835del(1)|p.R834_D835del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACTCATGATATCTCGAGCCA	0.448			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	37	Unknown(23)|Substitution - Missense(11)|Deletion - In frame(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(37)	13											190	142	158					13																	28592640		2203	4300	6503	27490640	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2505T>G	13.37:g.28592640A>C	ENSP00000241453:p.Asp835Glu	48	0	0		309	32.24	147	27490640	93	19.83	24	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835E	ENST00000241453.7	37	c.2505	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	A	22.3	4.273327	0.80580	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.82893	-1.66;-1.66	5.84	-4.76	0.03229	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	N	0.000030	T	0.81650	0.4867	N	0.17922	0.545	0.80722	D	1	D	0.56521	0.976	D	0.67382	0.951	T	0.79933	-0.1594	10	0.87932	D	0	.	16.6884	0.85315	0.3945:0.0:0.6055:0.0	.	835	P36888	FLT3_HUMAN	E	835	ENSP00000241453:D835E;ENSP00000370369:D835E	ENSP00000241453:D835E	D	-	3	2	FLT3	27490640	0.998000	0.40836	0.408000	0.26446	0.936000	0.57629	0.485000	0.22324	-1.493000	0.01835	-0.424000	0.05967	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.448	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	A			27490640	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	0.991	C	C	28592640	A	C	28592640	3	2	12	1	0	0	0	0	1	0	0	0	5942	446	16	5	496	5	FLT3	13	28592640	Missense_Mutation	SNP	A	TCGA-AB-2814-03D-01W-0755-09		28592640	86577238	5	154											
FAM65A	79567	genome.wustl.edu	37	16	67578879	67578879	+	Missense_Mutation	SNP	C	C	T	rs557085966		TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chr16:67578879C>T	ENST00000379312.3	+	17	3023	c.2902C>T	c.(2902-2904)Cgg>Tgg	p.R968W	CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.R983W|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R978W|FAM65A_ENST00000042381.4_Missense_Mutation_p.R964W|FAM65A_ENST00000422602.2_Missense_Mutation_p.R984W	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	968						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCGGCCTCTCGGCCTGGCTT	0.602																																						dbGAP											0			16											148	149	149					16																	67578879		2198	4300	6498	66136380	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2902C>T	16.37:g.67578879C>T	ENSP00000368614:p.Arg968Trp	48	0	0		16	56.76	21	66136380	30	51.61	32	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R964W	ENST00000379312.3	37	c.2890	CCDS54028.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.20|15.20	2.764039|2.764039	0.49574|0.49574	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.80566|.	-1.39;-1.39;-1.39|.	5.44|5.44	2.14|2.14	0.27477|0.27477	.|.	0.205916|.	0.45867|.	D|.	0.000325|.	T|T	0.50837|0.50837	0.1639|0.1639	L|L	0.58101|0.58101	1.795|1.795	0.25985|0.25985	N|N	0.982324|0.982324	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.66979|.	0.948;0.948;0.948|.	T|T	0.41998|0.41998	-0.9477|-0.9477	10|6	0.87932|0.32370	D|T	0|0.25	-10.8097|-10.8097	12.4485|12.4485	0.55666|0.55666	0.5903:0.4097:0.0:0.0|0.5903:0.4097:0.0:0.0	.|.	978;984;968|.	B4DIM2;E9PBS3;Q6ZS17|.	.;.;FA65A_HUMAN|.	W|L	968;964;984;978|957	ENSP00000368614:R968W;ENSP00000042381:R964W;ENSP00000400099:R984W|.	ENSP00000042381:R964W|ENSP00000389456:S957L	R|S	+|+	1|2	2|0	FAM65A|FAM65A	66136380|66136380	0.106000|0.106000	0.21978|0.21978	0.999000|0.999000	0.59377|0.59377	0.653000|0.653000	0.38743|0.38743	1.204000|1.204000	0.32296|0.32296	0.625000|0.625000	0.30304|0.30304	0.655000|0.655000	0.94253|0.94253	CGG|TCG	-	NULL		0.602	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	protein_coding	OTTHUMT00000268866.3	C	NM_024519		66136380	1	no_errors	NM_024519.2	genbank	human	validated	54_36p	missense	SNP	0.018	T	T	67578879	C	T	67578879	3	4	12	1	0	0	0	0	1	0	0	0	5599	875	31	1	2952	1	FAM65A	16	67578879	Missense_Mutation	SNP	C	TCGA-AB-2814-03D-01W-0755-09		67578879	22775874	6	155											
UPF1	5976	genome.wustl.edu	37	19	18963815	18963815	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chr19:18963815T>A	ENST00000599848.1	+	7	1201	c.992T>A	c.(991-993)gTc>gAc	p.V331D	UPF1_ENST00000262803.5_Missense_Mutation_p.V331D			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	331	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AACATCACTGTCAGGTGGGAC	0.517																																						dbGAP											0			19											130	114	120					19																	18963815		2203	4300	6503	18824815	SO:0001583	missense	0			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"UP Frameshift 1", "smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"	601430	"regulator of nonsense transcripts 1"	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.992T>A	19.37:g.18963815T>A	ENSP00000470142:p.Val331Asp	40	0	0		55	43.3	42	18824815	51	37.8	31	O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	HMMPfam_ResIII,HMMPfam_UPF1_Zn_bind,superfamily_SSF52540	p.V331D	ENST00000599848.1	37	c.992		19	.	.	.	.	.	.	.	.	.	.	T	22.3	4.269480	0.80469	.	.	ENSG00000005007	ENST00000262803	D	0.92965	-3.14	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.96405	0.8827	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.97005	0.9732	10	0.87932	D	0	-49.2431	12.8733	0.57977	0.0:0.0:0.0:1.0	.	331;331	Q92900;Q92900-2	RENT1_HUMAN;.	D	331	ENSP00000262803:V331D	ENSP00000262803:V331D	V	+	2	0	UPF1	18824815	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.687000	0.84139	1.648000	0.50643	0.438000	0.28831	GTC	-	NULL		0.517	UPF1-002	KNOWN	basic	protein_coding	UPF1	protein_coding	OTTHUMT00000464684.1	T	NM_002911		18824815	1	no_errors	NM_002911.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	18963815	T	A	18963815	3	1	12	1	0	0	0	0	1	0	0	0	17000	1667	58	5	1018	5	UPF1	19	18963815	Missense_Mutation	SNP	T	TCGA-AB-2814-03D-01W-0755-09		18963815	40165168	7	156											
TMPRSS15	5651	genome.wustl.edu	37	21	19666640	19666640	+	Silent	SNP	G	G	A	rs377055842		TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chr21:19666640G>A	ENST00000284885.3	-	21	2466	c.2433C>T	c.(2431-2433)ggC>ggT	p.G811G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	811	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CGAGAGATGCGCCGCAGAGCA	0.567																																						dbGAP											0			21						G		0,4406		0,0,2203	76	79	78		2433	-9.3	0.7	21		78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMPRSS15	NM_002772.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		811/1020	19666640	1,13005	2203	4300	6503	18588511	SO:0001819	synonymous_variant	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"Serine peptidases / Transmembrane"	9490	protein-coding gene	gene with protein product	"proenterokinase", "enteropeptidase"	606635	"protease, serine, 7 (enterokinase)"	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2433C>T	21.37:g.19666640G>A		21	0	0					18588511	45	40	30	Q2NKL7	Silent	SNP	HMMPfam_SEA,HMMSmart_SM00200,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMPfam_SRCR,HMMPfam_Trypsin,HMMSmart_SM00020,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,superfamily_Trypsin-like serine proteases,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_SEA domain	p.G811	ENST00000284885.3	37	c.2433	CCDS13571.1	21																																																																																			-	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases		0.567	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS7	protein_coding	OTTHUMT00000158231.2	G	NM_002772		18588511	-1	no_errors	NM_002772.2	genbank	human	reviewed	54_36p	silent	SNP	0.930	A	A	19666640	G	A	19666640	2	1	12	1	0	0	0	0	0	0	0	1	16243	1074	38	1		1	TMPRSS15	21	19666640	Silent	SNP	G	TCGA-AB-2814-03D-01W-0755-09		19666640	28463255	8	157											
SHROOM2	357	genome.wustl.edu	37	X	9862449	9862449	+	Silent	SNP	C	C	A			TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chrX:9862449C>A	ENST00000380913.3	+	4	591	c.501C>A	c.(499-501)cgC>cgA	p.R167R		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	167					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ACCTACAGCGCACCTTAGATC	0.572																																						dbGAP											0			X											90	72	78					X																	9862449		2203	4300	6503	9822449	SO:0001819	synonymous_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.501C>A	X.37:g.9862449C>A		31	0	0					9822449	81	30.17	35	B9EIQ7	Silent	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_ASD2,HMMPfam_ASD1	p.R167	ENST00000380913.3	37	c.501	CCDS14135.1	X																																																																																			-	NULL		0.572	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	protein_coding	OTTHUMT00000055721.1	C	NM_001649		9822449	1	no_errors	NM_001649.2	genbank	human	reviewed	54_36p	silent	SNP	0.890	A	A	9862449	C	A	9862449	2	1	12	1	0	0	0	0	0	0	0	1	14294	697	25	4		4	SHROOM2	23	9862449	Silent	SNP	C	TCGA-AB-2814-03D-01W-0755-09		9862449	145408111	9	158											
BCORL1	63035	genome.wustl.edu	37	X	129148536	129148537	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2814-03D-01W-0755-09	TCGA-AB-2814-11D-01W-0755-09	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	604f0c72-efc7-4868-bc54-79d8f3f3507b	8fb40399-ec65-44a3-9ca3-700a7728c333	g.chrX:129148536_129148537insA	ENST00000218147.7	+	4	1985_1986	c.1788_1789insA	c.(1789-1791)accfs	p.T597fs	BCORL1_ENST00000303743.5_Frame_Shift_Ins_p.T597fs|BCORL1_ENST00000540052.1_Frame_Shift_Ins_p.T597fs|BCORL1_ENST00000359304.2_Frame_Shift_Ins_p.T597fs			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	597	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGACTTCCGTTACCTTCTCTCC	0.619																																						dbGAP											0			X																																								128976218	SO:0001589	frameshift_variant	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"Ankyrin repeat domain containing"	25657	protein-coding gene	gene with protein product		300688	"chromosome X open reading frame 10", "BCL6 co-repressor-like 1"	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1789dupA	X.37:g.129148537_129148537dupA	ENSP00000218147:p.Thr597fs	20	0	0		17	67.31	35	128976217	48	40	32	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Frame_Shift_Ins	INS	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.T596fs	ENST00000218147.7	37	c.1788_1789	CCDS14616.1	X																																																																																			-	NULL		0.619	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	-	NM_021946		128976218	1	no_errors	NM_021946.2	genbank	human	validated	54_36p	frame_shift_ins	INS	0.002:0.198	A	A	129148537	-	A	129148536	7	5	12	1	0	1	1	0	0	0	0	0	1387	1741	61	0	1798	0	BCORL1	23	129148536	Frame_Shift_Ins	INS	-	TCGA-AB-2814-03D-01W-0755-09	119286087	129148536	26122024	10	159											
NRAS	4893	genome.wustl.edu	37	1	115258744	115258744	+	Missense_Mutation	SNP	C	C	T	rs121434596		TCGA-AB-2816-03B-01W-0728-08	TCGA-AB-2816-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44030c30-5dd3-4deb-b2ff-3e3bda693330	6a0db1cf-f431-4c67-b3fb-185dfe9979c9	g.chr1:115258744C>T	ENST00000369535.4	-	2	291	c.38G>A	c.(37-39)gGt>gAt	p.G13D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(188)|p.G13V(56)|p.G13A(16)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCCCAACACCACCTGCTCC	0.498	G13D(HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13V(AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	262	Substitution - Missense(262)	haematopoietic_and_lymphoid_tissue(217)|skin(36)|thyroid(2)|large_intestine(2)|soft_tissue(2)|central_nervous_system(1)|endometrium(1)|NS(1)	1	GRCh37	CM071907	NRAS	M	rs121434596						208	185	193					1																	115258744		2203	4300	6503	115060267	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.38G>A	1.37:g.115258744C>T	ENSP00000358548:p.Gly13Asp	54	6.9	4		44	29.03	18	115060267	155	15.76	29	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G13D	ENST00000369535.4	37	c.38	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048221	0.93740	.	.	ENSG00000213281	ENST00000369535	T	0.72942	-0.7	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	T	0.79644	0.4481	M	0.92604	3.325	0.80722	D	1	B	0.33964	0.434	B	0.42319	0.383	T	0.81673	-0.0826	10	0.62326	D	0.03	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	D	13	ENSP00000358548:G13D	ENSP00000358548:G13D	G	-	2	0	NRAS	115060267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060267	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115258744	C	T	115258744	3	4	13	1	0	0	0	0	1	0	0	0	10640	507	18	2	547	2	NRAS	1	115258744	Missense_Mutation	SNP	C	TCGA-AB-2816-03B-01W-0728-08		115258744	133991877	1	160											
CAMK1G	57172	genome.wustl.edu	37	1	209785354	209785354	+	Missense_Mutation	SNP	G	G	A	rs201488482		TCGA-AB-2816-03B-01W-0728-08	TCGA-AB-2816-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44030c30-5dd3-4deb-b2ff-3e3bda693330	6a0db1cf-f431-4c67-b3fb-185dfe9979c9	g.chr1:209785354G>A	ENST00000009105.1	+	11	1378	c.1133G>A	c.(1132-1134)gGc>gAc	p.G378D	CAMK1G_ENST00000361322.2_Missense_Mutation_p.G378D			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	378						calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGCCAGCATGGCCGCCGGCCC	0.642													G|||	1	0.000199681	0	0.0014	5008	,	,		17181	0		0	False		,,,				2504	0				Ovarian(163;530 1939 9680 28669 48710)	dbGAP											0			1											72	73	73					1																	209785354		2203	4300	6503	207851977	SO:0001583	missense	0				CCDS1486.1	1q32.2	2012-09-20			ENSG00000008118	ENSG00000008118			14585	protein-coding gene	gene with protein product		614994				12637513	Standard	NM_020439		Approved	VWS1, CLICKIII, dJ272L16.1	uc001hhd.3	Q96NX5	OTTHUMG00000036361	ENST00000009105.1:c.1133G>A	1.37:g.209785354G>A	ENSP00000009105:p.Gly378Asp	44	6.25	3					207851977	80	48.08	75	Q86UH5|Q9Y3J7	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.G378D	ENST00000009105.1	37	c.1133	CCDS1486.1	1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	16.51	3.144861	0.57044	.	.	ENSG00000008118	ENST00000009105;ENST00000361322	T;T	0.67171	-0.25;-0.25	5.59	3.7	0.42460	.	1.134890	0.06492	N	0.734771	T	0.47097	0.1427	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.34179	-0.9839	10	0.16896	T	0.51	.	5.6666	0.17698	0.2052:0.0:0.6487:0.1461	.	378;378	Q96NX5-2;Q96NX5	.;KCC1G_HUMAN	D	378	ENSP00000009105:G378D;ENSP00000354861:G378D	ENSP00000009105:G378D	G	+	2	0	CAMK1G	207851977	0.000000	0.05858	0.001000	0.08648	0.957000	0.61999	0.067000	0.14510	0.714000	0.32081	0.650000	0.86243	GGC	-	superfamily_Protein kinase-like (PK-like)		0.642	CAMK1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1G	protein_coding	OTTHUMT00000088526.1	G	NM_020439		207851977	1	no_errors	NM_020439.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A	A	209785354	G	A	209785354	3	1	13	1	0	0	0	0	1	0	0	0	2598	1203	42	2	1171	2	CAMK1G	1	209785354	Missense_Mutation	SNP	G	TCGA-AB-2816-03B-01W-0728-08	94526610	209785354	39465267	2	161											
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2816-03B-01W-0728-08	TCGA-AB-2816-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44030c30-5dd3-4deb-b2ff-3e3bda693330	6a0db1cf-f431-4c67-b3fb-185dfe9979c9	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55	50	52		2644,2077,2644	5.7	1	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	59	10.61	7		3	90.91	30	25310747	74	48.98	72	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25457243	G	A	25457243	3	1	13	1	0	0	0	0	1	0	0	0	4676	1116	39	1	98	1	DNMT3A	2	25457243	Missense_Mutation	SNP	G	TCGA-AB-2816-03B-01W-0728-08		25457243	217742130	3	162											
C9orf171	389799	genome.wustl.edu	37	9	135447815	135447815	+	Missense_Mutation	SNP	G	G	A	rs199879705		TCGA-AB-2816-03B-01W-0728-08	TCGA-AB-2816-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44030c30-5dd3-4deb-b2ff-3e3bda693330	6a0db1cf-f431-4c67-b3fb-185dfe9979c9	g.chr9:135447815G>A	ENST00000343036.2	+	7	929	c.881G>A	c.(880-882)cGc>cAc	p.R294H	C9orf171_ENST00000393216.2_Missense_Mutation_p.R258H	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	294										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GAGGCCGATCGCCAGAGAGCA	0.627																																						dbGAP											0			9						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	72	65	67		881	5.5	1	9		67	0,8600		0,0,4300	no	missense	C9orf171	NM_207417.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	294/321	135447815	2,13004	2203	4300	6503	134437636	SO:0001583	missense	0			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.881G>A	9.37:g.135447815G>A	ENSP00000343290:p.Arg294His	26	10.34	3					134437636	40	45.45	35	Q147X1	Missense_Mutation	SNP	NULL	p.R294H	ENST00000343036.2	37	c.881	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	G	16.03	3.007095	0.54361	4.54E-4	0.0	ENSG00000188523	ENST00000343036;ENST00000393216	T;T	0.26957	1.7;1.71	5.53	5.53	0.82687	.	0.133057	0.50627	D	0.000113	T	0.27063	0.0663	L	0.52573	1.65	0.38889	D	0.957062	D;P	0.53151	0.958;0.956	B;B	0.42030	0.154;0.373	T	0.08534	-1.0717	10	0.54805	T	0.06	.	14.9549	0.71104	0.0:0.0:1.0:0.0	.	258;294	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	H	294;258	ENSP00000343290:R294H;ENSP00000376909:R258H	ENSP00000343290:R294H	R	+	2	0	C9orf171	134437636	1.000000	0.71417	0.995000	0.50966	0.034000	0.12701	4.892000	0.63193	2.617000	0.88574	0.542000	0.68232	CGC	-	NULL		0.627	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	protein_coding	OTTHUMT00000254589.1	G	NM_207417		134437636	1	no_errors	NM_207417.1	genbank	human	predicted	54_36p	missense	SNP	0.996	A	A	135447815	G	A	135447815	3	1	13	1	0	0	0	0	1	0	0	0	2470	1087	38	1	907	1	C9orf171	9	135447815	Missense_Mutation	SNP	G	TCGA-AB-2816-03B-01W-0728-08		135447815	5765616	4	163											
FAIM2	23017	genome.wustl.edu	37	12	50282962	50282962	+	Silent	SNP	G	G	C			TCGA-AB-2816-03B-01W-0728-08	TCGA-AB-2816-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44030c30-5dd3-4deb-b2ff-3e3bda693330	6a0db1cf-f431-4c67-b3fb-185dfe9979c9	g.chr12:50282962G>C	ENST00000320634.3	-	10	769	c.675C>G	c.(673-675)ggC>ggG	p.G225G	FAIM2_ENST00000550890.1_Silent_p.G179G	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	225					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CGAAGAGCACGCCCTGGCAGG	0.597																																						dbGAP											0			12											88	75	79					12																	50282962		2203	4300	6503	48569229	SO:0001819	synonymous_variant	0			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"transmembrane BAX inhibitor motif containing 2"	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.675C>G	12.37:g.50282962G>C		86	7.53	7					48569229	194	39.56	127	A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Silent	SNP	HMMPfam_UPF0005	p.G225	ENST00000320634.3	37	c.675	CCDS8791.1	12	.	.	.	.	.	.	.	.	.	.	G	13.17	2.156853	0.38119	.	.	ENSG00000135472	ENST00000552863	.	.	.	4.74	-9.49	0.00587	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52726	-0.8537	4	.	.	.	-6.4772	6.7397	0.23428	0.1644:0.0:0.4724:0.3632	.	.	.	.	G	94	.	.	R	-	1	0	FAIM2	48569229	0.000000	0.05858	0.944000	0.38274	0.649000	0.38597	-2.223000	0.01214	-1.229000	0.02564	-2.000000	0.00444	CGT	-	HMMPfam_UPF0005		0.597	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM2	protein_coding	OTTHUMT00000405984.1	G	NM_012306		48569229	-1	no_errors	NM_012306.2	genbank	human	validated	54_36p	silent	SNP	0.973	C	C	50282962	G	C	50282962	2	2	13	1	0	0	0	0	0	0	0	1	5376	1074	38	4		4	FAIM2	12	50282962	Silent	SNP	G	TCGA-AB-2816-03B-01W-0728-08		50282962	83568933	5	164											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2816-03B-01W-0728-08	TCGA-AB-2816-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44030c30-5dd3-4deb-b2ff-3e3bda693330	6a0db1cf-f431-4c67-b3fb-185dfe9979c9	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	51	1.89	1		126	15.44	23	27490642	105	27.21	40	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	13	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2816-03B-01W-0728-08		28592642	86577236	6	165											
TGM6	343641	genome.wustl.edu	37	20	2384303	2384303	+	Silent	SNP	C	C	T			TCGA-AB-2816-03B-01W-0728-08	TCGA-AB-2816-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44030c30-5dd3-4deb-b2ff-3e3bda693330	6a0db1cf-f431-4c67-b3fb-185dfe9979c9	g.chr20:2384303C>T	ENST00000202625.2	+	9	1231	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	TGM6_ENST00000381423.1_Silent_p.F390F	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	390					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.F390L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGGCCCCTTCGTGTTTGCGG	0.617																																						dbGAP											1	Substitution - Missense(1)	lung(1)	20											108	87	94					20																	2384303		2203	4300	6503	2332303	SO:0001819	synonymous_variant	0			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"Transglutaminases"	16255	protein-coding gene	gene with protein product	"spinocerebellar ataxia 35"	613900	"transglutaminase 3-like"	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1170C>T	20.37:g.2384303C>T		12	0	0					2332303	39	47.3	35	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Silent	SNP	HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases	p.F390	ENST00000202625.2	37	c.1170	CCDS13025.1	20																																																																																			-	superfamily_Cysteine proteinases		0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM6	protein_coding	OTTHUMT00000077581.2	C	NM_198994		2332303	1	no_errors	NM_198994.2	genbank	human	validated	54_36p	silent	SNP	0.993	T	T	2384303	C	T	2384303	2	4	13	1	0	0	0	0	0	0	0	1	15831	883	31	1		1	TGM6	20	2384303	Silent	SNP	C	TCGA-AB-2816-03B-01W-0728-08		2384303	60641217	7	166											
FAM5C	339479	genome.wustl.edu	37	1	190067861	190067861	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr1:190067861G>A	ENST00000367462.3	-	8	1819	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R428C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	530					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R530C(1)									ATCCGCTTACGCCAGGAGGGA	0.428																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)	1											119	116	117					1																	190067861		2203	4300	6503	188334484	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1588C>T	1.37:g.190067861G>A	ENSP00000356432:p.Arg530Cys	29	0	0					188334484	90	40.79	62	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.R530C	ENST00000367462.3	37	c.1588	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825390	0.50739	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25749	2.03;1.78	5.64	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.50309	0.1608	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.973	T	0.54957	-0.8215	10	0.87932	D	0	.	13.2819	0.60219	0.0:0.0:0.835:0.165	.	428;530	B7Z260;Q76B58	.;FAM5C_HUMAN	C	530;428	ENSP00000356432:R530C;ENSP00000438022:R428C	ENSP00000356432:R530C	R	-	1	0	FAM5C	188334484	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	2.155000	0.42301	1.317000	0.45149	0.591000	0.81541	CGT	-	NULL		0.428	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	G	NM_199051		188334484	-1	no_errors	NM_199051.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	190067861	G	A	190067861	3	1	14	1	0	0	0	0	1	0	0	0	5594	1087	38	1	716	1	FAM5C	1	190067861	Missense_Mutation	SNP	G	TCGA-AB-2817-03B-01W-0728-08		190067861	59182760	1	167											
TRNT1	51095	genome.wustl.edu	37	3	3189779	3189779	+	Missense_Mutation	SNP	A	A	G	rs199931785		TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr3:3189779A>G	ENST00000251607.6	+	8	1348	c.1246A>G	c.(1246-1248)Aaa>Gaa	p.K416E	TRNT1_ENST00000280591.6_Missense_Mutation_p.K396E	NM_182916.2	NP_886552	Q96Q11	TRNT1_HUMAN	tRNA nucleotidyl transferase, CCA-adding, 1	416					protein targeting to mitochondrion (GO:0006626)|tRNA 3'-end processing (GO:0042780)|tRNA 3'-terminal CCA addition (GO:0001680)	intracellular (GO:0005622)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP:3'-cytidine-cytidine-tRNA adenylyltransferase activity (GO:0052929)|CTP:3'-cytidine-tRNA cytidylyltransferase activity (GO:0052928)|CTP:tRNA cytidylyltransferase activity (GO:0052927)|tRNA adenylyltransferase activity (GO:0004810)|tRNA binding (GO:0000049)			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		AGAACAGTGGAAAAAAAGTGG	0.388																																						dbGAP											0			3											61	63	63					3																	3189779		2203	4300	6503	3164779	SO:0001583	missense	0			AF151805	CCDS2561.2	3p25.1	2002-05-30			ENSG00000072756	ENSG00000072756	2.7.7.25		17341	protein-coding gene	gene with protein product		612907				10810093, 11504732	Standard	NM_182916		Approved	MtCCA, CGI-47, CCA1	uc003bpp.4	Q96Q11	OTTHUMG00000090259	ENST00000251607.6:c.1246A>G	3.37:g.3189779A>G	ENSP00000251607:p.Lys416Glu	27	0	0		16	40.74	11	3164779	75	45.26	62	A8K2Z6|B7WP13|C9JKA2|Q8ND57|Q9BS97|Q9Y362	Missense_Mutation	SNP	HMMPfam_PolyA_pol,superfamily_Nucleotidyltransferase,superfamily_Poly A polymerase C-terminal region-like	p.K416E	ENST00000251607.6	37	c.1246	CCDS2561.2	3	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643256	0.67244	.	.	ENSG00000072756	ENST00000251607;ENST00000280591	T;T	0.44881	0.93;0.91	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	L	0.61036	1.89	0.80722	D	1	P;B	0.41978	0.767;0.23	P;B	0.47915	0.561;0.119	T	0.51364	-0.8715	10	0.45353	T	0.12	-19.6505	14.8158	0.70034	1.0:0.0:0.0:0.0	.	396;416	Q96Q11-2;Q96Q11	.;TRNT1_HUMAN	E	416;396	ENSP00000251607:K416E;ENSP00000280591:K396E	ENSP00000251607:K416E	K	+	1	0	TRNT1	3164779	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.662000	0.91130	1.968000	0.57251	0.533000	0.62120	AAA	-	superfamily_Poly A polymerase C-terminal region-like		0.388	TRNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNT1	protein_coding	OTTHUMT00000337616.1	A			3164779	1	no_errors	NM_182916.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	3189779	A	G	3189779	3	3	14	1	0	0	0	0	1	0	0	0	16570	247	9	3	1272	3	TRNT1	3	3189779	Missense_Mutation	SNP	A	TCGA-AB-2817-03B-01W-0728-08		3189779	194832651	2	168											
ZNF502	91392	genome.wustl.edu	37	3	44763608	44763608	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr3:44763608A>T	ENST00000296091.4	+	4	1555	c.1299A>T	c.(1297-1299)aaA>aaT	p.K433N	ZNF502_ENST00000436624.2_Missense_Mutation_p.K433N|ZNF502_ENST00000449836.1_Missense_Mutation_p.K433N	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	433					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTGGAGAAAAACCCTATAAAT	0.423																																						dbGAP											0			3											75	80	78					3																	44763608		2203	4300	6503	44738612	SO:0001583	missense	0			AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"Zinc fingers, C2H2-type"	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.1299A>T	3.37:g.44763608A>T	ENSP00000296091:p.Lys433Asn	153	0.64	1					44738612	63	42.73	47		Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.K433N	ENST00000296091.4	37	c.1299	CCDS2719.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.54|17.54	3.413904|3.413904	0.62511|0.62511	.|.	.|.	ENSG00000196653|ENSG00000196653	ENST00000449836;ENST00000296091;ENST00000436624|ENST00000427783	T;T;T|.	0.26067|.	1.76;1.76;1.76|.	4.19|4.19	3.02|3.02	0.34903|0.34903	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.48114|0.48114	0.1482|0.1482	L|L	0.46947|0.46947	1.48|1.48	0.31234|0.31234	N|N	0.695932|0.695932	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.55528|0.55528	-0.8127|-0.8127	9|6	0.66056|0.87932	D|D	0.02|0	-15.6506|-15.6506	8.8594|8.8594	0.35247|0.35247	0.9075:0.0:0.0925:0.0|0.9075:0.0:0.0925:0.0	.|.	433|.	Q8TBZ5|.	ZN502_HUMAN|.	N|I	433|433	ENSP00000397390:K433N;ENSP00000296091:K433N;ENSP00000406469:K433N|.	ENSP00000296091:K433N|ENSP00000397812:N433I	K|N	+|+	3|2	2|0	ZNF502|ZNF502	44738612|44738612	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.504000|0.504000	0.22626|0.22626	0.768000|0.768000	0.33290|0.33290	0.533000|0.533000	0.62120|0.62120	AAA|AAC	-	superfamily_SSF57667		0.423	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF502	protein_coding	OTTHUMT00000256744.4	A	NM_033210		44738612	1	no_errors	NM_033210.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	44763608	A	T	44763608	3	4	14	1	0	0	0	0	1	0	0	0	17947	40	2	5	1305	5	ZNF502	3	44763608	Missense_Mutation	SNP	A	TCGA-AB-2817-03B-01W-0728-08	41573829	44763608	153258822	3	169											
GALNT7	51809	genome.wustl.edu	37	4	174219440	174219440	+	Silent	SNP	A	A	G			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr4:174219440A>G	ENST00000265000.4	+	6	1223	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	GALNT7_ENST00000512285.1_3'UTR	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	380					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CAAAAACTGAACCGTATCGGT	0.423																																						dbGAP											0			4											64	64	64					4																	174219440		2203	4300	6503	174456015	SO:0001819	synonymous_variant	0			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"Glycosyltransferase family 2 domain containing"	4129	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 7"	605005	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.1140A>G	4.37:g.174219440A>G		42	0	0		25	41.86	18	174456015	67	47.24	60	B3KQU3|Q7Z5W7|Q9UJ28	Silent	SNP	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases	p.E380	ENST00000265000.4	37	c.1140	CCDS3815.1	4																																																																																			-	HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases		0.423	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT7	protein_coding	OTTHUMT00000362456.2	A	NM_017423		174456015	1	no_errors	NM_017423.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	G	G	174219440	A	G	174219440	2	3	14	1	0	0	0	0	0	0	0	1	6218	40	2	3		3	GALNT7	4	174219440	Silent	SNP	A	TCGA-AB-2817-03B-01W-0728-08		174219440	16934836	4	170											
CMYA5	202333	genome.wustl.edu	37	5	79034411	79034411	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr5:79034411C>T	ENST00000446378.2	+	2	9854	c.9823C>T	c.(9823-9825)Ccg>Tcg	p.P3275S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3275					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTCATACCAACCGATAGCTGC	0.438																																						dbGAP											0			5											99	94	95					5																	79034411		1867	4112	5979	79070167	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"Tripartite motif containing / Tripartite motif containing", "A-kinase anchor proteins", "Fibronectin type III domain containing"	14305	protein-coding gene	gene with protein product	"genethonin-3", "tripartite motif-containing 76"	612193	"chromosome 5 open reading frame 10"	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.9823C>T	5.37:g.79034411C>T	ENSP00000394770:p.Pro3275Ser	73	0	0					79070167	149	46.4	129	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	HMMPfam_SPRY,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like	p.P3275S	ENST00000446378.2	37	c.9823	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	8.167	0.790913	0.16258	.	.	ENSG00000164309	ENST00000446378	T	0.20598	2.06	5.89	4.13	0.48395	.	0.802608	0.10844	N	0.627939	T	0.18551	0.0445	L	0.36672	1.1	0.23341	N	0.997877	B	0.21381	0.055	B	0.12837	0.008	T	0.18461	-1.0336	10	0.52906	T	0.07	.	10.3491	0.43924	0.0:0.8462:0.0:0.1538	.	3275	Q8N3K9	CMYA5_HUMAN	S	3275	ENSP00000394770:P3275S	ENSP00000394770:P3275S	P	+	1	0	CMYA5	79070167	0.000000	0.05858	0.482000	0.27366	0.868000	0.49771	-0.055000	0.11807	0.840000	0.34995	0.655000	0.94253	CCG	-	NULL		0.438	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79070167	1	no_errors	NM_153610.3	genbank	human	validated	54_36p	missense	SNP	0.515	T	T	79034411	C	T	79034411	3	4	14	1	0	0	0	0	1	0	0	0	3590	507	18	2	9829	2	CMYA5	5	79034411	Missense_Mutation	SNP	C	TCGA-AB-2817-03B-01W-0728-08		79034411	101880849	5	171											
GPR6	2830	genome.wustl.edu	37	6	110300868	110300868	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr6:110300868G>A	ENST00000275169.3	+	1	571	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	GPR6_ENST00000414000.2_Missense_Mutation_p.V200M	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	185					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CCTGTTGGGCGTGCACCTCCT	0.672																																						dbGAP											0			6											33	34	34					6																	110300868		2203	4300	6503	110407561	SO:0001583	missense	0				CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"GPCR / Class A : Orphans"	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.553G>A	6.37:g.110300868G>A	ENSP00000275169:p.Val185Met	35	0	0					110407561	44	49.43	43	B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.V185M	ENST00000275169.3	37	c.553	CCDS5079.1	6	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947751	0.53186	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.39056	1.1;1.1	4.83	4.83	0.62350	GPCR, rhodopsin-like superfamily (1);	0.072592	0.56097	D	0.000037	T	0.29491	0.0735	N	0.20807	0.61	0.42923	D	0.994298	D;D	0.71674	0.998;0.994	P;P	0.62014	0.897;0.895	T	0.22941	-1.0202	10	0.54805	T	0.06	.	5.763	0.18211	0.2339:0.0:0.7661:0.0	.	200;185	B4DHS9;P46095	.;GPR6_HUMAN	M	185;200;185	ENSP00000406986:V200M;ENSP00000275169:V185M	ENSP00000275169:V185M	V	+	1	0	GPR6	110407561	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.025000	0.64097	2.504000	0.84457	0.563000	0.77884	GTG	-	HMMPfam_7tm_1,superfamily_SSF81321		0.672	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR6	protein_coding	OTTHUMT00000041774.1	G			110407561	1	no_errors	NM_005284.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	110300868	G	A	110300868	3	1	14	1	0	0	0	0	1	0	0	0	6701	1145	40	1	555	1	GPR6	6	110300868	Missense_Mutation	SNP	G	TCGA-AB-2817-03B-01W-0728-08		110300868	60814199	6	172											
FAM115A	9747	genome.wustl.edu	37	7	143573124	143573124	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr7:143573124A>G	ENST00000479870.1	-	2	786	c.578T>C	c.(577-579)tTt>tCt	p.F193S	FAM115A_ENST00000355951.2_Missense_Mutation_p.F193S|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	193										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GGAGACTTTAAAGAAACTCGT	0.507																																						dbGAP											0			7											58	50	53					7																	143573124		2203	4300	6503	143204057	SO:0001583	missense	0			AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.578T>C	7.37:g.143573124A>G	ENSP00000419235:p.Phe193Ser	62	0	0		2	66.67	4	143204057	13	87.13	88	A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	SNP	NULL	p.F193S	ENST00000479870.1	37	c.578	CCDS5886.1	7	.	.	.	.	.	.	.	.	.	.	A	18.45	3.626382	0.66901	.	.	ENSG00000198420	ENST00000479870;ENST00000355951	T;T	0.42131	0.98;0.98	4.14	2.97	0.34412	.	0.265926	0.37483	N	0.002075	T	0.55000	0.1893	M	0.86420	2.815	0.38674	D	0.952387	P	0.37176	0.586	P	0.48770	0.589	T	0.60021	-0.7344	10	0.87932	D	0	-7.6257	5.0636	0.14570	0.6268:0.1902:0.0:0.183	.	193	Q9Y4C2	F115A_HUMAN	S	193	ENSP00000419235:F193S;ENSP00000348220:F193S	ENSP00000348220:F193S	F	-	2	0	FAM115A	143204057	0.993000	0.37304	0.968000	0.41197	0.992000	0.81027	2.978000	0.49305	0.894000	0.36317	0.528000	0.53228	TTT	-	NULL		0.507	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM115A	protein_coding	OTTHUMT00000349583.1	A	NM_014719		143204057	-1	no_errors	NM_014719.1	genbank	human	predicted	54_36p	missense	SNP	0.934	G	G	143573124	A	G	143573124	3	3	14	1	0	0	0	0	1	0	0	0	5405	14	1	3	2219	3	FAM115A	7	143573124	Missense_Mutation	SNP	A	TCGA-AB-2817-03B-01W-0728-08		143573124	15565539	7	173											
EZH2	2146	genome.wustl.edu	37	7	148504762	148504763	+	Frame_Shift_Ins	INS	-	-	ATGCA	rs373975096		TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	-	-	-	ATGCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr7:148504762_148504763insATGCA	ENST00000460911.1	-	20	2304_2305	c.2216_2217insTGCAT	c.(2215-2217)atcfs	p.-739fs	EZH2_ENST00000483967.1_Frame_Shift_Ins_p.-730fs|EZH2_ENST00000476773.1_Frame_Shift_Ins_p.-688fs|EZH2_ENST00000320356.2_Frame_Shift_Ins_p.-744fs|EZH2_ENST00000541220.1_Frame_Shift_Ins_p.-688fs|EZH2_ENST00000350995.2_Frame_Shift_Ins_p.-700fs|EZH2_ENST00000478654.1_Frame_Shift_Ins_p.-688fs			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit						cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTTCTCTTTCGATGCCGACATA	0.51			Mis		DLBCL																																	dbGAP		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0			7																																								148135696	SO:0001589	frameshift_variant	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2216_2217insTGCAT	7.37:g.148504762_148504763insATGCA	ENSP00000419711:p.Ile739fs								148135695				B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Frame_Shift_Ins	INS	HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199	p.E745fs	ENST00000460911.1	37	c.2232_2231	CCDS56516.1	7																																																																																			-	NULL		0.51	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	protein_coding	OTTHUMT00000352744.1	-	NM_004456		148135696	-1	no_errors	NM_004456.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.985:1.000	ATGCA	ATGCA	148504763	-	ATGCA	148504762	7	5	14	1	0	1	1	0	0	0	0	0	5334	1048	37	0	27	0	EZH2	7	148504762	Frame_Shift_Ins	INS	-	TCGA-AB-2817-03B-01W-0728-08	4931638	148504762	10633901	8	174	2	2									
EZH2	2146	genome.wustl.edu	37	7	148504763	148504764	+	Frame_Shift_Ins	INS	-	-	ATGCA			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	-	-	-	ATGCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr7:148504763_148504764insATGCA	ENST00000460911.1	-	20	2303_2304	c.2215_2216insTGCAT	c.(2215-2217)atcfs	p.I739fs	EZH2_ENST00000483967.1_Frame_Shift_Ins_p.I730fs|EZH2_ENST00000476773.1_Frame_Shift_Ins_p.I688fs|EZH2_ENST00000320356.2_Frame_Shift_Ins_p.I744fs|EZH2_ENST00000541220.1_Frame_Shift_Ins_p.I688fs|EZH2_ENST00000350995.2_Frame_Shift_Ins_p.I700fs|EZH2_ENST00000478654.1_Frame_Shift_Ins_p.I688fs			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	739					cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTCTCTTTCGATGCCGACATAC	0.51			Mis		DLBCL																																	dbGAP		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	0			7																																								148135697	SO:0001589	frameshift_variant	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2215_2216insTGCAT	7.37:g.148504763_148504764insATGCA	ENSP00000419711:p.Ile739fs								148135696				B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Frame_Shift_Ins	INS	HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199	p.I744fs	ENST00000460911.1	37	c.2231_2230	CCDS56516.1	7																																																																																			-	NULL		0.51	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	protein_coding	OTTHUMT00000352744.1	-	NM_004456		148135697	-1	no_errors	NM_004456.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	ATGCA	ATGCA	148504764	-	ATGCA	148504763	7	5	14	1	0	1	1	0	0	0	0	0	5334	333	12	0	28	0	EZH2	7	148504763	Frame_Shift_Ins	INS	-	TCGA-AB-2817-03B-01W-0728-08	1	148504763	10633900	9	175	2	2									
CYP26A1	1592	genome.wustl.edu	37	10	94835682	94835682	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr10:94835682G>A	ENST00000224356.4	+	5	1009	c.964G>A	c.(964-966)Gtt>Att	p.V322I	CYP26A1_ENST00000371531.1_Missense_Mutation_p.V253I|CYP26A1_ENST00000394139.1_Missense_Mutation_p.V253I	NM_000783.3	NP_000774.2	O43174	CP26A_HUMAN	cytochrome P450, family 26, subfamily A, polypeptide 1	322					anterior/posterior pattern specification (GO:0009952)|cellular response to retinoic acid (GO:0071300)|central nervous system development (GO:0007417)|metabolic process (GO:0008152)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|neural crest cell development (GO:0014032)|retinoic acid catabolic process (GO:0034653)|retinoic acid receptor signaling pathway (GO:0048384)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|retinoic acid 4-hydroxylase activity (GO:0008401)|retinoic acid binding (GO:0001972)			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)			Acitretin(DB00459)|Ketoconazole(DB01026)|Vitamin A(DB00162)	CTACCCACATGTTCTCCAGAA	0.517																																						dbGAP											0			10											71	67	68					10																	94835682		2203	4300	6503	94825672	SO:0001583	missense	0			AF005418	CCDS7426.1, CCDS7427.1	10q23-q24	2003-10-06	2003-01-14		ENSG00000095596	ENSG00000095596		"Cytochrome P450s"	2603	protein-coding gene	gene with protein product		602239	"cytochrome P450, subfamily XXVIA, polypeptide 1"			9228017, 9521883	Standard	NM_000783		Approved	P450RAI, CP26, CYP26, P450RAI1	uc001kil.2	O43174	OTTHUMG00000018765	ENST00000224356.4:c.964G>A	10.37:g.94835682G>A	ENSP00000224356:p.Val322Ile	64	1.54	1					94825672	33	37.74	20	B3KNI4|Q5VXH9|Q5VXI0	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.V322I	ENST00000224356.4	37	c.964	CCDS7426.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.387987	0.95988	.	.	ENSG00000095596	ENST00000371531;ENST00000224356;ENST00000394139	T;T;T	0.70749	-0.51;-0.51;-0.51	5.11	5.11	0.69529	.	0.124932	0.53938	D	0.000053	T	0.68329	0.2989	L	0.32530	0.975	0.58432	D	0.999998	B;P	0.42556	0.04;0.783	B;P	0.46917	0.259;0.531	T	0.64512	-0.6390	10	0.26408	T	0.33	-8.3032	18.7344	0.91749	0.0:0.0:1.0:0.0	.	253;322	B3KNI4;O43174	.;CP26A_HUMAN	I	253;322;253	ENSP00000360586:V253I;ENSP00000224356:V322I;ENSP00000377695:V253I	ENSP00000224356:V322I	V	+	1	0	CYP26A1	94825672	1.000000	0.71417	0.847000	0.33407	0.970000	0.65996	7.187000	0.77730	2.662000	0.90505	0.655000	0.94253	GTT	-	HMMPfam_p450,superfamily_Cytochrome_P450		0.517	CYP26A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CYP26A1	protein_coding	OTTHUMT00000049408.3	G			94825672	1	no_errors	NM_000783.3	genbank	human	reviewed	54_36p	missense	SNP	0.887	A	A	94835682	G	A	94835682	3	1	14	1	0	0	0	0	1	0	0	0	4155	1377	48	2	982	2	CYP26A1	10	94835682	Missense_Mutation	SNP	G	TCGA-AB-2817-03B-01W-0728-08		94835682	40699065	10	176											
AP3S2	10239	genome.wustl.edu	37	15	90414717	90414717	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr15:90414717T>C	ENST00000336418.4	-	4	727	c.335A>G	c.(334-336)cAt>cGt	p.H112R	AP3S2_ENST00000558011.1_Missense_Mutation_p.H124R|C15orf38-AP3S2_ENST00000560224.1_5'UTR|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.H313R|AP3S2_ENST00000560940.1_Missense_Mutation_p.H112R	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	112					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CTTATCCATATGGAAGATCAA	0.373																																						dbGAP											0			15											92	89	90					15																	90414717		2200	4299	6499	88215721	SO:0001583	missense	0			X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.335A>G	15.37:g.90414717T>C	ENSP00000338777:p.His112Arg	57	0	0		18	41.94	13	88215721	24	36.84	14	B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	HMMPfam_Clat_adaptor_s,PatternScan_CLAT_ADAPTOR_S,superfamily_SNARE-like	p.H112R	ENST00000336418.4	37	c.335	CCDS10357.1	15	.	.	.	.	.	.	.	.	.	.	T	20.6	4.013408	0.75161	.	.	ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000398333	T;T	0.44881	0.91;0.91	5.85	5.85	0.93711	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.64402	D	0.000001	T	0.59609	0.2206	M	0.92880	3.355	0.32937	D	0.517921	P;P	0.42409	0.594;0.779	P;B	0.45167	0.472;0.362	T	0.78193	-0.2299	10	0.87932	D	0	-10.6034	12.6294	0.56649	0.0:0.0:0.0:1.0	.	313;112	E2QRD5;P59780	.;AP3S2_HUMAN	R	112;313	ENSP00000338777:H112R;ENSP00000381377:H313R	ENSP00000338777:H112R	H	-	2	0	C15orf38-AP3S2;AP3S2	88215721	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.954000	0.70298	2.222000	0.72286	0.533000	0.62120	CAT	-	HMMPfam_Clat_adaptor_s,superfamily_SNARE-like		0.373	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S2	protein_coding	OTTHUMT00000313422.1	T			88215721	-1	no_errors	NM_005829.4	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	90414717	T	C	90414717	3	2	14	1	0	0	0	0	1	0	0	0	750	1464	51	3	258	3	AP3S2	15	90414717	Missense_Mutation	SNP	T	TCGA-AB-2817-03B-01W-0728-08		90414717	12116675	11	177											
CBFB	865	genome.wustl.edu	37	16	67116171	67116172	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr16:67116171_67116172insA	ENST00000290858.6	+	5	716_717	c.455_456insA	c.(454-459)gaatttfs	p.F153fs	CBFB_ENST00000412916.2_Frame_Shift_Ins_p.F153fs|CBFB_ENST00000561924.2_Frame_Shift_Ins_p.F53fs	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	153					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		AGGACACGCGAATTTGAAGATA	0.441			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"core-binding factor, beta subunit"		L	0			16																																								65673673	SO:0001589	frameshift_variant	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.456dupA	16.37:g.67116172_67116172dupA	ENSP00000290858:p.Phe153fs	288	0	0		12	0	0	65673672	197	0	0	A8K347|Q13124|Q9HCT2	Frame_Shift_Ins	INS	HMMPfam_CBF_beta,superfamily_CBF_beta	p.F153fs	ENST00000290858.6	37	c.455_456	CCDS10827.1	16																																																																																			-	HMMPfam_CBF_beta		0.441	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	protein_coding	OTTHUMT00000268843.2	-	NM_001755		65673673	1	no_errors	NM_022845.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	A	A	67116172	-	A	67116171	7	5	14	1	0	1	1	0	0	0	0	0	2699	246	9	0	473	0	CBFB	16	67116171	Frame_Shift_Ins	INS	-	TCGA-AB-2817-03B-01W-0728-08		67116171	23238582	12	178											
SSTR4	6754	genome.wustl.edu	37	20	23016628	23016628	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2817-03B-01W-0728-08	TCGA-AB-2817-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c97470b-4715-470b-b0c7-9e4807b5fae4	800efb0e-942d-4afc-bdb3-454dc18c6c38	g.chr20:23016628G>A	ENST00000255008.3	+	1	572	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	170					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CAACCTGGGCGTGTGGCTGGC	0.697																																					Esophageal Squamous(15;850 1104 16640)	dbGAP											0			20											48	54	52					20																	23016628		2197	4293	6490	22964628	SO:0001583	missense	0				CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"GPCR / Class A : Somatostatin receptors"	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.508G>A	20.37:g.23016628G>A	ENSP00000255008:p.Val170Met	28	0	0					22964628	16	30.43	7	Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.V170M	ENST00000255008.3	37	c.508	CCDS42856.1	20	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341249	0.60963	.	.	ENSG00000132671	ENST00000255008	T	0.75154	-0.91	3.72	3.72	0.42706	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000039	D	0.85716	0.5761	M	0.84846	2.72	0.51012	D	0.999907	D	0.65815	0.995	D	0.65684	0.937	D	0.87858	0.2662	10	0.54805	T	0.06	.	14.194	0.65656	0.0:0.0:1.0:0.0	.	170	P31391	SSR4_HUMAN	M	170	ENSP00000255008:V170M	ENSP00000255008:V170M	V	+	1	0	SSTR4	22964628	1.000000	0.71417	0.853000	0.33588	0.366000	0.29705	5.707000	0.68370	1.882000	0.54519	0.655000	0.94253	GTG	-	HMMPfam_7tm_1,superfamily_SSF81321		0.697	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR4	protein_coding	OTTHUMT00000078308.1	G			22964628	1	no_errors	NM_001052.2	genbank	human	validated	54_36p	missense	SNP	0.990	A	A	23016628	G	A	23016628	3	1	14	1	0	0	0	0	1	0	0	0	15199	1145	40	1	510	1	SSTR4	20	23016628	Missense_Mutation	SNP	G	TCGA-AB-2817-03B-01W-0728-08		23016628	40008892	13	179											
KLHL12	59349	genome.wustl.edu	37	1	202863740	202863740	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr1:202863740T>G	ENST00000367261.3	-	9	1491	c.1273A>C	c.(1273-1275)Agt>Cgt	p.S425R	KLHL12_ENST00000367259.1_Missense_Mutation_p.S158R|KLHL12_ENST00000435533.3_Missense_Mutation_p.S463R	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	425	Interaction with DVL3.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ATCACTCCACTGGCCACTACG	0.517																																						dbGAP											0			1											138	138	138					1																	202863740		2203	4300	6503	201130363	SO:0001583	missense	0			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"Kelch-like", "BTB/POZ domain containing"	19360	protein-coding gene	gene with protein product		614522	"kelch-like 12 (Drosophila)"			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.1273A>C	1.37:g.202863740T>G	ENSP00000356230:p.Ser425Arg	27	0	0		3	40	2	201130363	56	51.3	59	A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB	p.S425R	ENST00000367261.3	37	c.1273	CCDS1429.1	1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.293496	0.60086	.	.	ENSG00000117153	ENST00000367261;ENST00000367259;ENST00000435533	T;T;T	0.76839	-1.05;-1.05;-1.05	5.47	4.34	0.51931	Galactose oxidase, beta-propeller (1);	0.192065	0.64402	D	0.000004	T	0.60508	0.2274	N	0.10707	0.03	0.53005	D	0.999967	B;B;B	0.27166	0.07;0.17;0.028	B;B;B	0.29862	0.108;0.021;0.053	T	0.58869	-0.7560	10	0.49607	T	0.09	.	11.4956	0.50406	0.0:0.0704:0.0:0.9296	.	463;425;158	B7Z7B8;Q53G59;Q9H7R2	.;KLH12_HUMAN;.	R	425;158;463	ENSP00000356230:S425R;ENSP00000356228:S158R;ENSP00000416886:S463R	ENSP00000356228:S158R	S	-	1	0	KLHL12	201130363	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	6.178000	0.71968	1.012000	0.39366	0.455000	0.32223	AGT	-	HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central		0.517	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	protein_coding	OTTHUMT00000099151.1	T	NM_021633		201130363	-1	no_errors	NM_021633.2	genbank	human	provisional	54_36p	missense	SNP	1.000	G	G	202863740	T	G	202863740	3	3	15	1	0	0	0	0	1	0	0	0	8368	1580	55	5	449	5	KLHL12	1	202863740	Missense_Mutation	SNP	T	TCGA-AB-2818-03B-01W-0728-08		202863740	46386881	1	180											
DNMT3A	1788	genome.wustl.edu	37	2	25459874	25459874	+	Splice_Site	SNP	C	C	G	rs35824014		TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr2:25459874C>G	ENST00000264709.3	-	21	2746	c.2409G>C	c.(2407-2409)agG>agC	p.R803S	DNMT3A_ENST00000321117.5_Splice_Site_p.R803S|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000402667.1_Splice_Site_p.R580S|DNMT3A_ENST00000380746.4_Splice_Site_p.R614S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	803	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R803fs*5(3)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCAACGGCCTAGGAGGCA	0.582			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	3	Deletion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	2											46	44	45					2																	25459874		2203	4300	6503	25313378	SO:0001630	splice_region_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2409-1G>C	2.37:g.25459874C>G		24	4	1		16	23.81	5	25313378	24	36.84	14	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R803S	ENST00000264709.3	37	c.2409	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	19.71	3.879016	0.72294	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.97794	0.9276	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.978;1.0	P;D	0.79108	0.791;0.992	D	0.98287	1.0511	10	0.62326	D	0.03	.	16.2726	0.82628	0.0:1.0:0.0:0.0	.	803;614	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	S	614;803;803;580	ENSP00000370122:R614S;ENSP00000324375:R803S;ENSP00000264709:R803S;ENSP00000384237:R580S	ENSP00000264709:R803S	R	-	3	2	DNMT3A	25313378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.956000	0.49129	2.510000	0.84645	0.655000	0.94253	AGG	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.582	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552	Missense_Mutation	25313378	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	25459874	C	G	25459874	5	3	15	1	0	0	0	0	0	0	1	0	4676	753	26	4	341	4	DNMT3A	2	25459874	Splice_Site	SNP	C	TCGA-AB-2818-03B-01W-0728-08		25459874	217739499	2	181											
TRPM8	79054	genome.wustl.edu	37	2	234846004	234846004	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr2:234846004G>A	ENST00000324695.4	+	4	239	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.V17M|TRPM8_ENST00000409625.1_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	67					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGGGAGAATGTGTGCAAGTG	0.453																																						dbGAP											0			2											112	97	102					2																	234846004		2203	4300	6503	234510743	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"Voltage-gated ion channels / Transient receptor potential cation channels"	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.199G>A	2.37:g.234846004G>A	ENSP00000323926:p.Val67Met	28	0	0					234510743	65	49.22	63	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	HMMPfam_Ion_trans	p.V67M	ENST00000324695.4	37	c.199	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	12.44	1.939313	0.34189	.	.	ENSG00000144481	ENST00000324695;ENST00000355722	T;T	0.60171	0.21;0.21	5.95	1.46	0.22682	.	0.785305	0.11777	N	0.530563	T	0.49729	0.1574	M	0.63843	1.955	0.80722	D	1	B;B	0.25206	0.12;0.002	B;B	0.28784	0.094;0.004	T	0.51260	-0.8728	10	0.56958	D	0.05	-7.6391	2.2238	0.03979	0.1987:0.3017:0.3709:0.1287	.	17;67	Q7Z2W7-2;Q7Z2W7	.;TRPM8_HUMAN	M	67;17	ENSP00000323926:V67M;ENSP00000347956:V17M	ENSP00000323926:V67M	V	+	1	0	TRPM8	234510743	0.005000	0.15991	0.351000	0.25721	0.914000	0.54420	0.021000	0.13489	0.370000	0.24538	0.655000	0.94253	GTG	-	NULL		0.453	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	protein_coding	OTTHUMT00000131005.4	G	NM_024080		234510743	1	no_errors	NM_024080.4	genbank	human	validated	54_36p	missense	SNP	0.006	A	A	234846004	G	A	234846004	3	1	15	1	0	0	0	0	1	0	0	0	16589	1377	48	2	209	2	TRPM8	2	234846004	Missense_Mutation	SNP	G	TCGA-AB-2818-03B-01W-0728-08	209386130	234846004	8353369	3	182											
MAPK9	5601	genome.wustl.edu	37	5	179676061	179676061	+	Silent	SNP	C	C	T			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr5:179676061C>T	ENST00000452135.2	-	6	826	c.528G>A	c.(526-528)gcG>gcA	p.A176A	MAPK9_ENST00000393360.3_Silent_p.A176A|MAPK9_ENST00000343111.6_Silent_p.A176A|MAPK9_ENST00000425491.2_Silent_p.A176A|MAPK9_ENST00000347470.4_Silent_p.A176A|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Silent_p.A176A|MAPK9_ENST00000539014.1_Silent_p.A176A|MAPK9_ENST00000397072.3_3'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTTAGTGCACGCTGTCCGGG	0.502																																						dbGAP											0			5											150	150	150					5																	179676061		2203	4300	6503	179608667	SO:0001819	synonymous_variant	0			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6886	protein-coding gene	gene with protein product	"Jun kinase"	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.528G>A	5.37:g.179676061C>T		22	0	0		22	54.17	26	179608667	45	52.13	49	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase	p.A176	ENST00000452135.2	37	c.528	CCDS4453.1	5																																																																																			-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.502	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	protein_coding	OTTHUMT00000253530.3	C			179608667	-1	no_errors	NM_002752.1	genbank	human	reviewed	54_36p	silent	SNP	0.606	T	T	179676061	C	T	179676061	2	4	15	1	0	0	0	0	0	0	0	1	9287	523	19	1		1	MAPK9	5	179676061	Silent	SNP	C	TCGA-AB-2818-03B-01W-0728-08		179676061	1239199	4	183											
MEA1	4201	genome.wustl.edu	37	6	42981063	42981063	+	Silent	SNP	G	G	A			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr6:42981063G>A	ENST00000244711.3	-	2	247	c.93C>T	c.(91-93)ccC>ccT	p.P31P	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	31					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CAGTCTGATTGGGGAAGATAC	0.607																																						dbGAP											0			6											97	96	97					6																	42981063		2203	4300	6503	43089041	SO:0001819	synonymous_variant	0				CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"male-enhanced antigen"	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.93C>T	6.37:g.42981063G>A		125	0	0		16	26.09	6	43089041	73	42.64	55	Q5TC36|Q9BV01	Silent	SNP	HMMPfam_MEA1	p.P31	ENST00000244711.3	37	c.93	CCDS4879.1	6																																																																																			-	HMMPfam_MEA1		0.607	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEA1	protein_coding	OTTHUMT00000040574.2	G			43089041	-1	no_errors	NM_014623.2	genbank	human	validated	54_36p	silent	SNP	0.997	A	A	42981063	G	A	42981063	2	1	15	1	0	0	0	0	0	0	0	1	9420	1335	47	2		2	MEA1	6	42981063	Silent	SNP	G	TCGA-AB-2818-03B-01W-0728-08		42981063	128134004	5	184											
FBXO30	84085	genome.wustl.edu	37	6	146125956	146125956	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr6:146125956C>T	ENST00000237281.4	-	2	1752	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	529							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AAATTCTTTCCTTCTAAATAA	0.428																																						dbGAP											0			6											84	79	81					6																	146125956		2203	4300	6503	146167649	SO:0001583	missense	0			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"F-boxes /  "other""	15600	protein-coding gene	gene with protein product		609101	"F-box only protein, helicase, 18"				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.1586G>A	6.37:g.146125956C>T	ENSP00000237281:p.Arg529Lys	54	1.79	1		16	27.27	6	146167649	97	45.2	80	Q9BXZ7	Missense_Mutation	SNP	HMMPfam_F-box,HMMSmart_FBOX,superfamily_Traf_like,superfamily_SSF81383	p.R529K	ENST00000237281.4	37	c.1586	CCDS5208.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579035	0.86645	.	.	ENSG00000118496	ENST00000237281	T	0.59364	0.27	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.74779	0.3761	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75320	-0.3359	10	0.87932	D	0	-20.2415	20.6208	0.99490	0.0:1.0:0.0:0.0	.	529	Q8TB52	FBX30_HUMAN	K	529	ENSP00000237281:R529K	ENSP00000237281:R529K	R	-	2	0	FBXO30	146167649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	AGG	-	NULL		0.428	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	protein_coding	OTTHUMT00000042570.2	C			146167649	-1	no_errors	NM_032145.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	146125956	C	T	146125956	3	4	15	1	0	0	0	0	1	0	0	0	5740	681	24	2	659	2	FBXO30	6	146125956	Missense_Mutation	SNP	C	TCGA-AB-2818-03B-01W-0728-08	103144893	146125956	24989111	6	185											
PSD3	23362	genome.wustl.edu	37	8	18725297	18725297	+	Silent	SNP	C	C	G			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr8:18725297C>G	ENST00000327040.8	-	4	1623	c.1521G>C	c.(1519-1521)gtG>gtC	p.V507V	PSD3_ENST00000523619.1_Silent_p.V442V|PSD3_ENST00000440756.2_Silent_p.V507V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	507					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CATCTGCAGACACACTCAGGA	0.517																																						dbGAP											0			8											196	195	196					8																	18725297		2135	4242	6377	18769577	SO:0001819	synonymous_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"Pleckstrin homology (PH) domain containing"	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1521G>C	8.37:g.18725297C>G		77	0	0		2	33.33	1	18769577	102	43.65	79	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729	p.V507	ENST00000327040.8	37	c.1521	CCDS43720.1	8																																																																																			-	NULL		0.517	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	protein_coding	OTTHUMT00000374867.1	C	NM_015310		18769577	-1	no_errors	NM_015310.3	genbank	human	validated	54_36p	silent	SNP	0.111	G	G	18725297	C	G	18725297	2	3	15	1	0	0	0	0	0	0	0	1	12648	465	17	4		4	PSD3	8	18725297	Silent	SNP	C	TCGA-AB-2818-03B-01W-0728-08		18725297	127638725	7	186											
RAD21	5885	genome.wustl.edu	37	8	117875497	117875498	+	Splice_Site	INS	-	-	C			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr8:117875497_117875498insC	ENST00000297338.2	-	3	432_433	c.145_146insG	c.(145-147)gtg>gGtg	p.V49fs	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	49					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TGCCATTTTCACCTATGAATAA	0.356																																						dbGAP											0			8																																								117944679	SO:0001630	splice_region_variant	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.145-1->G	8.37:g.117875499_117875499dupC		33	0	0		11	0	0	117944678	86	47.24	77	A8K0E0|Q15001|Q99568	Frame_Shift_Ins	INS	HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N	p.V49fs	ENST00000297338.2	37	c.146_145	CCDS6321.1	8																																																																																			-	HMMPfam_Rad21_Rec8_N		0.356	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	protein_coding	OTTHUMT00000381184.1	-	NM_006265	Frame_Shift_Ins	117944679	-1	no_errors	NM_006265.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	C	C	117875498	-	C	117875497	8	5	15	1	0	1	1	0	0	0	1	0	12981	173	6	0	1797	0	RAD21	8	117875497	Splice_Site	INS	-	TCGA-AB-2818-03B-01W-0728-08	99150200	117875497	28488525	8	187											
C5	727	genome.wustl.edu	37	9	123724995	123724995	+	Silent	SNP	C	C	A			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr9:123724995C>A	ENST00000223642.1	-	36	4487	c.4458G>T	c.(4456-4458)ggG>ggT	p.G1486G		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1486					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GACTGAGAAACCCAACTTCAA	0.383																																						dbGAP											0			9											113	118	116					9																	123724995		2203	4300	6503	122764816	SO:0001819	synonymous_variant	0			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4458G>T	9.37:g.123724995C>A		54	1.82	1		4	60	6	122764816	82	41.01	57	Q14CJ0|Q27I61	Silent	SNP	HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terp_cyc_toroid,HMMPfam_A2M_recep,superfamily_AM_receptor_bind,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylatoxin,HMMPfam_NTR,HMMSmart_C345C,PatternScan_ALPHA_2_MACROGLOBULIN	p.G1486	ENST00000223642.1	37	c.4458	CCDS6826.1	9																																																																																			-	HMMPfam_A2M_recep,superfamily_AM_receptor_bind		0.383	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	protein_coding	OTTHUMT00000053844.1	C	NM_001735		122764816	-1	no_errors	NM_001735.2	genbank	human	reviewed	54_36p	silent	SNP	0.995	A	A	123724995	C	A	123724995	2	1	15	1	0	0	0	0	0	0	0	1	2280	494	18	4		4	C5	9	123724995	Silent	SNP	C	TCGA-AB-2818-03B-01W-0728-08		123724995	17488436	9	188											
HPS5	11234	genome.wustl.edu	37	11	18314458	18314458	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr11:18314458G>A	ENST00000349215.3	-	15	2127	c.1850C>T	c.(1849-1851)aCa>aTa	p.T617I	HPS5_ENST00000352460.3_Intron|HPS5_ENST00000396253.3_Missense_Mutation_p.T503I|HPS5_ENST00000438420.2_Missense_Mutation_p.T503I	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	617					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCTTCTGCTGTTGCTACTTT	0.368									Hermansky-Pudlak syndrome																													dbGAP											0			11											190	167	175					11																	18314458		2199	4293	6492	18271034	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1850C>T	11.37:g.18314458G>A	ENSP00000265967:p.Thr617Ile	30	0	0		11	42.11	8	18271034	81	44.52	65	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	superfamily_WD40 repeat-like	p.T617I	ENST00000349215.3	37	c.1850	CCDS7836.1	11	.	.	.	.	.	.	.	.	.	.	G	14.60	2.585077	0.46110	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215	T;T;T	0.77620	-1.11;-1.11;-1.11	5.29	5.29	0.74685	.	0.105584	0.64402	D	0.000005	T	0.76601	0.4010	L	0.50333	1.59	0.80722	D	1	P	0.47604	0.898	B	0.43082	0.407	T	0.80348	-0.1420	10	0.72032	D	0.01	.	18.3031	0.90171	0.0:0.0:1.0:0.0	.	617	Q9UPZ3	HPS5_HUMAN	I	503;503;617	ENSP00000379552:T503I;ENSP00000399590:T503I;ENSP00000265967:T617I	ENSP00000265967:T617I	T	-	2	0	HPS5	18271034	1.000000	0.71417	0.998000	0.56505	0.185000	0.23345	6.713000	0.74686	2.653000	0.90120	0.655000	0.94253	ACA	-	NULL		0.368	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	protein_coding	OTTHUMT00000390808.1	G	NM_181507		18271034	-1	no_errors	NM_181507.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	18314458	G	A	18314458	3	1	15	1	0	0	0	0	1	0	0	0	7342	1377	48	2	1575	2	HPS5	11	18314458	Missense_Mutation	SNP	G	TCGA-AB-2818-03B-01W-0728-08		18314458	116692058	10	189											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2818-03B-01W-0728-08	TCGA-AB-2818-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	84ca77c7-0799-4e5c-bed8-034e78b899f0	4bbe86bc-4b1c-43fc-a949-4599c083d8e4	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	41	0	0		141	42.45	104	27490642	71	44.53	57	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	15	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2818-03B-01W-0728-08		28592642	86577236	11	190											
HSPG2	3339	genome.wustl.edu	37	1	22178676	22178676	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr1:22178676C>T	ENST00000374695.3	-	53	6854	c.6775G>A	c.(6775-6777)Ggc>Agc	p.G2259S	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2259	Ig-like C2-type 8.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGGGTCTGGCCCTCGGCCACT	0.632																																						dbGAP											0			1											54	50	51					1																	22178676		2203	4300	6503	22051263	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"Proteoglycans / Extracellular Matrix : Other", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5273	protein-coding gene	gene with protein product	"perlecan proteoglycan"	142461	"Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.6775G>A	1.37:g.22178676C>T	ENSP00000363827:p.Gly2259Ser	14	0	0		41	34.92	22	22051263	45	44.71	38	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	HMMPfam_Laminin_B,HMMPfam_SEA,HMMSmart_SM00200,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMSmart_SM00281,superfamily_Immunoglobulin,superfamily_EGF/Laminin	p.G2259S	ENST00000374695.3	37	c.6775	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.075571	0.94000	.	.	ENSG00000142798	ENST00000374695	T	0.81163	-1.46	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.464998	0.16088	N	0.230200	D	0.87970	0.6312	M	0.86097	2.795	0.50171	D	0.999859	P;P	0.38148	0.62;0.505	P;B	0.47705	0.555;0.239	D	0.88297	0.2947	10	0.59425	D	0.04	.	16.8528	0.85998	0.0:1.0:0.0:0.0	.	199;2259	Q59EG0;P98160	.;PGBM_HUMAN	S	2259	ENSP00000363827:G2259S	ENSP00000363827:G2259S	G	-	1	0	HSPG2	22051263	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.059000	0.64306	2.584000	0.87258	0.561000	0.74099	GGC	-	HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_I-set,superfamily_Immunoglobulin		0.632	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22051263	-1	no_errors	NM_005529.5	genbank	human	validated	54_36p	missense	SNP	0.999	T	T	22178676	C	T	22178676	3	4	16	1	0	0	0	0	1	0	0	0	7430	623	22	2	6580	2	HSPG2	1	22178676	Missense_Mutation	SNP	C	TCGA-AB-2819-03B-01W-0728-08		22178676	227071945	1	191											
RGL1	23179	genome.wustl.edu	37	1	183895310	183895310	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr1:183895310C>T	ENST00000360851.3	+	18	2369	c.2191C>T	c.(2191-2193)Cgc>Tgc	p.R731C	RGL1_ENST00000536277.1_Missense_Mutation_p.R729C|RGL1_ENST00000539189.1_Missense_Mutation_p.R702C|RGL1_ENST00000304685.4_Missense_Mutation_p.R766C			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	731	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTTCATTTTGCGCAAAAAGAA	0.448																																						dbGAP											0			1											109	104	106					1																	183895310		2203	4300	6503	182161933	SO:0001583	missense	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.2191C>T	1.37:g.183895310C>T	ENSP00000354097:p.Arg731Cys	53	0	0		6	0	0	182161933	149	40.08	101	Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_SM00314,HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF,PatternScan_RASGEF,superfamily_Ubiquitin-like	p.R766C	ENST00000360851.3	37	c.2296		1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978612	0.74360	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000360851;ENST00000539189	T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95	5.37	5.37	0.77165	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.46014	0.1371	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.993;0.993;0.993	T	0.39623	-0.9605	10	0.62326	D	0.03	.	13.124	0.59342	0.2642:0.7358:0.0:0.0	.	702;729;731;766	F5H6U6;B7Z2W5;Q9NZL6;Q5SXQ6	.;.;RGL1_HUMAN;.	C	766;766;729;731;702	ENSP00000303192:R766C;ENSP00000356501:R766C;ENSP00000438662:R729C;ENSP00000354097:R731C;ENSP00000437355:R702C	ENSP00000303192:R766C	R	+	1	0	RGL1	182161933	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.791000	0.47829	2.666000	0.90696	0.650000	0.86243	CGC	-	HMMPfam_RA,HMMSmart_SM00314,superfamily_Ubiquitin-like		0.448	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	protein_coding	OTTHUMT00000085742.1	C	NM_015149		182161933	1	no_errors	NM_015149.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	183895310	C	T	183895310	3	4	16	1	0	0	0	0	1	0	0	0	13276	768	27	1	2366	1	RGL1	1	183895310	Missense_Mutation	SNP	C	TCGA-AB-2819-03B-01W-0728-08	161716634	183895310	65355311	2	192											
MSH6	2956	genome.wustl.edu	37	2	48027540	48027540	+	Silent	SNP	C	C	T			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr2:48027540C>T	ENST00000234420.5	+	4	2570	c.2418C>T	c.(2416-2418)tcC>tcT	p.S806S	MSH6_ENST00000538136.1_Silent_p.S504S|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.S676S	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	806					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAAAATCTCCGAAGTTGTAG	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													dbGAP	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2											79	80	79					2																	48027540		2203	4300	6503	47881044	SO:0001819	synonymous_variant	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"mutS (E. coli) homolog 6", "mutS homolog 6 (E. coli)"	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2418C>T	2.37:g.48027540C>T		59	0	0		44	64.23	79	47881044	169	43.56	132	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_MutS_V,HMMSmart_SM00534,PatternScan_DNA_MISMATCH_REPAIR_2,HMMPfam_MutS_I,HMMPfam_MutS_III,HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III,HMMPfam_MutS_II,HMMPfam_MutS_IV,superfamily_DNA repair protein MutS domain I,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_Tudor/PWWP/MBT	p.S806	ENST00000234420.5	37	c.2418	CCDS1836.1	2																																																																																			-	HMMPfam_MutS_III,HMMSmart_SM00533,superfamily_DNA repair protein MutS domain III		0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	protein_coding	OTTHUMT00000251180.4	C	NM_000179		47881044	1	no_errors	NM_000179.2	genbank	human	reviewed	54_36p	silent	SNP	0.392	T	T	48027540	C	T	48027540	2	4	16	1	0	0	0	0	0	0	0	1	9874	639	23	1		1	MSH6	2	48027540	Silent	SNP	C	TCGA-AB-2819-03B-01W-0728-08		48027540	195171833	3	193											
EHHADH	1962	genome.wustl.edu	37	3	184910353	184910353	+	Silent	SNP	T	T	C			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr3:184910353T>C	ENST00000231887.3	-	7	1908	c.1833A>G	c.(1831-1833)ccA>ccG	p.P611P	EHHADH_ENST00000456310.1_Silent_p.P515P|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	611					fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			TAATGGTACGTGGTTCAATGT	0.443																																						dbGAP											0			3											121	113	116					3																	184910353		2203	4300	6503	186393047	SO:0001819	synonymous_variant	0			L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1833A>G	3.37:g.184910353T>C		67	0	0		13	40.91	9	186393047	161	35.38	92	A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Silent	SNP	HMMPfam_ECH,HMMPfam_3HCDH,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6DGDH_C_like,superfamily_NAD(P)-bd,PatternScan_ENOYL_COA_HYDRATASE,superfamily_SSF52096	p.P611	ENST00000231887.3	37	c.1833	CCDS33901.1	3																																																																																			-	superfamily_6DGDH_C_like		0.443	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHHADH	protein_coding	OTTHUMT00000345326.1	T			186393047	-1	no_errors	NM_001966.2	genbank	human	validated	54_36p	silent	SNP	0.013	C	C	184910353	T	C	184910353	2	2	16	1	0	0	0	0	0	0	0	1	4982	1683	59	3		3	EHHADH	3	184910353	Silent	SNP	T	TCGA-AB-2819-03B-01W-0728-08		184910353	13112077	4	194											
TRA2B	6434	genome.wustl.edu	37	3	185643273	185643273	+	Silent	SNP	G	G	A			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr3:185643273G>A	ENST00000453386.2	-	3	587	c.312C>T	c.(310-312)cgC>cgT	p.R104R	TRA2B_ENST00000382191.4_Silent_p.R4R|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	104	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CATGACGCCTGCGAGTAGACA	0.463																																						dbGAP											0			3											117	103	108					3																	185643273		2203	4300	6503	187125967	SO:0001819	synonymous_variant	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.312C>T	3.37:g.185643273G>A		43	0	0		214	51.36	226	187125967	116	42.65	87	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Silent	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.R104	ENST00000453386.2	37	c.312	CCDS33905.1	3																																																																																			-	superfamily_RNA-binding domain RBD		0.463	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	protein_coding	OTTHUMT00000344984.1	G	NM_004593		187125967	-1	no_errors	NM_004593.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	185643273	G	A	185643273	2	1	16	1	0	0	0	0	0	0	0	1	16431	1306	46	2		2	TRA2B	3	185643273	Silent	SNP	G	TCGA-AB-2819-03B-01W-0728-08	732920	185643273	12379157	5	195											
KIT	3815	genome.wustl.edu	37	4	55589771	55589771	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr4:55589771A>C	ENST00000288135.5	+	8	1350	c.1253A>C	c.(1252-1254)tAc>tCc	p.Y418S		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	418	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y418_D419>G(4)|p.T417_D419>I(2)|p.T417_D419>RG(2)|p.T417_D419>Y(2)|p.T417_R420>R(1)|p.T417_V422>SRIL(1)|p.T417_D419>F(1)|p.T417_D419>G(1)|p.T417_D419>KT(1)|p.T417_D419>L(1)|p.T417_D419>N(1)|p.T417_D419>KS(1)|p.Y418_R420>V(1)|p.T417_D419>RA(1)|p.T417_D419>S(1)|p.T417_D419>V(1)|p.T417_R420>SVIVG(1)|p.Y418_D419del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCTGACTTACGACAGGCTC	0.473		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	24	Complex - deletion inframe(22)|Deletion - In frame(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(24)	4											98	84	89					4																	55589771		2203	4300	6503	55284528	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1253A>C	4.37:g.55589771A>C	ENSP00000288135:p.Tyr418Ser	30	0	0		176	0	0	55284528	104	28	42	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.Y418S	ENST00000288135.5	37	c.1253	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	A	3.947	-0.013139	0.07727	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.02472	4.28;4.28	6.17	-1.0	0.10196	Immunoglobulin-like fold (1);	0.854162	0.10089	N	0.717395	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.49031	-0.8981	10	0.21014	T	0.42	.	4.4396	0.11568	0.158:0.5375:0.143:0.1615	.	418;418	P10721-2;P10721	.;KIT_HUMAN	S	418	ENSP00000288135:Y418S;ENSP00000390987:Y418S	ENSP00000288135:Y418S	Y	+	2	0	KIT	55284528	0.000000	0.05858	0.001000	0.08648	0.501000	0.33797	0.412000	0.21131	-0.533000	0.06323	0.533000	0.62120	TAC	-	NULL		0.473	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	A			55284528	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	0.002	C	C	55589771	A	C	55589771	3	2	16	1	0	0	0	0	1	0	0	0	8329	391	14	5	1283	5	KIT	4	55589771	Missense_Mutation	SNP	A	TCGA-AB-2819-03B-01W-0728-08		55589771	135564505	6	196											
PCDHB3	56132	genome.wustl.edu	37	5	140480895	140480895	+	Missense_Mutation	SNP	C	C	T	rs564746714	byFrequency	TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr5:140480895C>T	ENST00000231130.2	+	1	662	c.662C>T	c.(661-663)cCt>cTt	p.P221L	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTCTCCCCCTCGGTCTGGG	0.542																																						dbGAP											0			5											43	45	44					5																	140480895		2203	4299	6502	140461079	SO:0001583	missense	0			AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"Cadherins / Protocadherins : Clustered"	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.662C>T	5.37:g.140480895C>T	ENSP00000231130:p.Pro221Leu	19	0	0					140461079	62	32.26	30	B2R8P2	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.P221L	ENST00000231130.2	37	c.662	CCDS4245.1	5	.	.	.	.	.	.	.	.	.	.	C	5.239	0.229613	0.09916	.	.	ENSG00000113205	ENST00000231130	T	0.56941	0.43	4.93	3.15	0.36227	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.68943	0.3056	H	0.95187	3.635	0.09310	N	0.999996	B	0.30664	0.289	B	0.40477	0.33	T	0.62835	-0.6770	9	0.44086	T	0.13	.	9.6113	0.39665	0.0:0.5124:0.4131:0.0745	.	221	Q9Y5E6	PCDB3_HUMAN	L	221	ENSP00000231130:P221L	ENSP00000231130:P221L	P	+	2	0	PCDHB3	140461079	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-1.296000	0.02762	0.606000	0.29965	-0.121000	0.15023	CCT	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.542	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB3	protein_coding	OTTHUMT00000251817.2	C	NM_018937		140461079	1	no_errors	NM_018937.2	genbank	human	reviewed	54_36p	missense	SNP	0.028	T	T	140480895	C	T	140480895	3	4	16	1	0	0	0	0	1	0	0	0	11543	681	24	2	664	2	PCDHB3	5	140480895	Missense_Mutation	SNP	C	TCGA-AB-2819-03B-01W-0728-08		140480895	40434365	7	197											
HDAC3	8841	genome.wustl.edu	37	5	141009284	141009284	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr5:141009284T>C	ENST00000305264.3	-	6	522	c.443A>G	c.(442-444)aAc>aGc	p.N148S		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	148	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CACAATGTCGTTGACATAGCA	0.527																																						dbGAP											0			5											102	97	99					5																	141009284		2203	4300	6503	140989468	SO:0001583	missense	0			AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.443A>G	5.37:g.141009284T>C	ENSP00000302967:p.Asn148Ser	82	0	0		31	34.04	16	140989468	87	42.31	66	D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase	p.N148S	ENST00000305264.3	37	c.443	CCDS4264.1	5	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518079	0.85495	.	.	ENSG00000171720	ENST00000305264;ENST00000523088	D;T	0.85629	-2.01;0.33	5.72	5.72	0.89469	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.94771	0.8312	H	0.98426	4.23	0.80722	D	1	D;D	0.65815	0.993;0.995	P;P	0.58391	0.676;0.838	D	0.96705	0.9521	10	0.87932	D	0	-23.5208	15.6647	0.77221	0.0:0.0:0.0:1.0	.	73;148	E7ESJ6;O15379	.;HDAC3_HUMAN	S	148;73	ENSP00000302967:N148S;ENSP00000429099:N73S	ENSP00000302967:N148S	N	-	2	0	HDAC3	140989468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.015000	0.88690	2.187000	0.69744	0.528000	0.53228	AAC	-	HMMPfam_Hist_deacetyl,superfamily_Arginase/deacetylase		0.527	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC3	protein_coding	OTTHUMT00000251824.2	T	NM_003883		140989468	-1	no_errors	NM_003883.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	141009284	T	C	141009284	3	2	16	1	0	0	0	0	1	0	0	0	7008	1725	60	3	883	3	HDAC3	5	141009284	Missense_Mutation	SNP	T	TCGA-AB-2819-03B-01W-0728-08	528389	141009284	39905976	8	198											
PDGFRB	5159	genome.wustl.edu	37	5	149504392	149504392	+	Missense_Mutation	SNP	G	G	A	rs541926152		TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr5:149504392G>A	ENST00000261799.4	-	13	2279	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|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 phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGAGGGTGCGTCCTGGTGCA	0.647			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"																																	dbGAP		Dom	yes		5	5q31-q32	5159	"platelet-derived growth factor receptor, beta polypeptide"		L	0			5											37	35	36					5																	149504392		2203	4300	6503	149484585	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.1810C>T	5.37:g.149504392G>A	ENSP00000261799:p.Arg604Cys	12	0	0		7	36.36	4	149484585	34	35.19	19	B5A957|Q8N5L4	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.R604C	ENST00000261799.4	37	c.1810	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673335	0.88445	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.90004	-2.6	4.65	4.65	0.58169	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.50627	D	0.000118	D	0.93281	0.7859	L	0.60957	1.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.94070	0.7334	10	0.87932	D	0	.	17.73	0.88375	0.0:0.0:1.0:0.0	.	604;604	A8KAM8;P09619	.;PGFRB_HUMAN	C	604;274	ENSP00000261799:R604C	ENSP00000261799:R604C	R	-	1	0	PDGFRB	149484585	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.008000	0.93601	2.412000	0.81896	0.455000	0.32223	CGC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.647	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	protein_coding	OTTHUMT00000252332.1	G	NM_002609		149484585	-1	no_errors	NM_002609.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	149504392	G	A	149504392	3	1	16	1	0	0	0	0	1	0	0	0	11662	1145	40	1	1554	1	PDGFRB	5	149504392	Missense_Mutation	SNP	G	TCGA-AB-2819-03B-01W-0728-08	8495108	149504392	31410868	9	199											
ADAM19	8728	genome.wustl.edu	37	5	156920098	156920098	+	Silent	SNP	G	G	T			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr5:156920098G>T	ENST00000517905.1	-	16	1835	c.1791C>A	c.(1789-1791)atC>atA	p.I597I	ADAM19_ENST00000430702.2_Silent_p.I330I|ADAM19_ENST00000394020.1_Silent_p.I599I|ADAM19_ENST00000257527.4_Silent_p.I597I			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	597	Cys-rich.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCCATTCATGATGATAGTGG	0.607																																						dbGAP											0			5											93	89	90					5																	156920098		2203	4300	6503	156852676	SO:0001819	synonymous_variant	0			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"ADAM metallopeptidase domain containing"	197	protein-coding gene	gene with protein product	"meltrin beta"	603640	"a disintegrin and metalloproteinase domain 19 (meltrin beta)"			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1791C>A	5.37:g.156920098G>T		38	0	0		3	0	0	156852676	178	34.66	96	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	NULL	p.H599N	ENST00000517905.1	37	c.1795		5	.	.	.	.	.	.	.	.	.	.	G	8.039	0.763379	0.15914	.	.	ENSG00000135074	ENST00000517374	.	.	.	5.25	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6751	0.02820	0.2202:0.259:0.3877:0.1331	.	.	.	.	X	168	.	.	S	-	2	0	ADAM19	156852676	0.000000	0.05858	0.005000	0.12908	0.961000	0.63080	0.336000	0.19823	0.215000	0.20761	0.563000	0.77884	TCA	-	NULL		0.607	ADAM19-003	PUTATIVE	basic	protein_coding	ADAM19	protein_coding	OTTHUMT00000373918.1	G	NM_033274		156852676	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_023038.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	156920098	G	T	156920098	2	4	16	1	0	0	0	0	0	0	0	1	240	1280	45	4		4	ADAM19	5	156920098	Silent	SNP	G	TCGA-AB-2819-03B-01W-0728-08	7415706	156920098	23995162	10	200											
HYAL4	23553	genome.wustl.edu	37	7	123509086	123509086	+	Missense_Mutation	SNP	C	C	G	rs149771586	byFrequency	TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr7:123509086C>G	ENST00000223026.4	+	3	1397	c.759C>G	c.(757-759)aaC>aaG	p.N253K	HYAL4_ENST00000476325.1_Missense_Mutation_p.N253K	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	253					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						GGCTCTGGAACAGCAGTGCTG	0.453																																						dbGAP											0			7											93	95	95					7																	123509086		2203	4300	6503	123296322	SO:0001583	missense	0			AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"hyaluronidase 4"	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.759C>G	7.37:g.123509086C>G	ENSP00000223026:p.Asn253Lys	52	0	0					123296322	129	37.8	79	D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_56,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Glyco_hydro_cat	p.N253K	ENST00000223026.4	37	c.759	CCDS5789.1	7	.	.	.	.	.	.	.	.	.	.	C	0.529	-0.858664	0.02610	.	.	ENSG00000106302	ENST00000223026;ENST00000476325	T;T	0.28895	1.59;1.59	5.89	-4.52	0.03472	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.047779	0.85682	D	0.000000	T	0.15696	0.0378	L	0.28556	0.865	0.40064	D	0.97593	B;B	0.29162	0.117;0.235	B;B	0.26693	0.043;0.072	T	0.09840	-1.0656	9	.	.	.	-13.8152	9.3179	0.37946	0.0:0.2182:0.1875:0.5943	.	253;253	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	K	253	ENSP00000223026:N253K;ENSP00000417186:N253K	.	N	+	3	2	HYAL4	123296322	0.718000	0.27976	0.692000	0.30179	0.007000	0.05969	-0.061000	0.11693	-1.424000	0.01999	-0.175000	0.13238	AAC	-	HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat		0.453	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL4	protein_coding	OTTHUMT00000348545.1	C	NM_012269		123296322	1	no_errors	NM_012269.2	genbank	human	reviewed	54_36p	missense	SNP	0.993	G	G	123509086	C	G	123509086	3	3	16	1	0	0	0	0	1	0	0	0	7466	477	17	4	761	4	HYAL4	7	123509086	Missense_Mutation	SNP	C	TCGA-AB-2819-03B-01W-0728-08		123509086	35629577	11	201											
PRUNE2	158471	genome.wustl.edu	37	9	79320738	79320738	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr9:79320738C>T	ENST00000376718.3	-	8	6575	c.6452G>A	c.(6451-6453)cGg>cAg	p.R2151Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.R1792Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2151					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.R2151Q(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACAAACTCCCGTCCAGGCTC	0.512																																						dbGAP											1	Substitution - Missense(1)	ovary(1)	9											121	112	115					9																	79320738		1568	3582	5150	78510558	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"olfaxin"	610691	"chromosome 9 open reading frame 65", "KIAA0367"	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6452G>A	9.37:g.79320738C>T	ENSP00000365908:p.Arg2151Gln	35	0	0					78510558	126	29.05	52	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	HMMSmart_SM00516,superfamily_CRAL/TRIO domain,superfamily_Ferritin-like	p.R1792Q	ENST00000376718.3	37	c.5375	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	c	1.175	-0.639944	0.03557	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.40476	1.04;1.03	5.77	-4.72	0.03269	.	0.478135	0.19721	N	0.107588	T	0.09335	0.0230	N	0.01219	-0.95	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32188	-0.9916	10	0.02654	T	1	0.0605	6.0832	0.19952	0.1952:0.36:0.0:0.4448	.	2151	Q8WUY3	PRUN2_HUMAN	Q	2151;1792;2150	ENSP00000365908:R2151Q;ENSP00000397425:R1792Q	ENSP00000365908:R2151Q	R	-	2	0	PRUNE2	78510558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.366000	0.07563	-0.808000	0.04387	-2.625000	0.00155	CGG	-	NULL		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	C	NM_138818		78510558	-1	no_errors	ENST00000376718	ensembl	human	known	54_36p	missense	SNP	0.001	T	T	79320738	C	T	79320738	3	4	16	1	0	0	0	0	1	0	0	0	12641	652	23	1	2862	1	PRUNE2	9	79320738	Missense_Mutation	SNP	C	TCGA-AB-2819-03B-01W-0728-08		79320738	61892693	12	202											
POSTN	10631	genome.wustl.edu	37	13	38156628	38156628	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr13:38156628G>A	ENST00000379747.4	-	10	1384	c.1267C>T	c.(1267-1269)Cgc>Tgc	p.R423C	POSTN_ENST00000541481.1_Missense_Mutation_p.R423C|POSTN_ENST00000379742.4_Missense_Mutation_p.R423C|POSTN_ENST00000379743.4_Missense_Mutation_p.R423C|POSTN_ENST00000541179.1_Missense_Mutation_p.R423C|POSTN_ENST00000379749.4_Missense_Mutation_p.R423C	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	423	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTAAGGAGGCGCTGATCCATG	0.353																																						dbGAP											0			13											96	94	95					13																	38156628		2202	4300	6502	37054628	SO:0001583	missense	0			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.1267C>T	13.37:g.38156628G>A	ENSP00000369071:p.Arg423Cys	44	0	0					37054628	94	35.76	54	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Missense_Mutation	SNP	HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain,HMMPfam_EMI	p.R423C	ENST00000379747.4	37	c.1267	CCDS9364.1	13	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166870	0.78339	.	.	ENSG00000133110	ENST00000541179;ENST00000379749;ENST00000379747;ENST00000379743;ENST00000379742;ENST00000541481	D;D;D;D;D;D	0.90788	-2.73;-2.73;-2.73;-2.73;-2.73;-2.73	6.07	6.07	0.98685	FAS1 domain (5);	0.343259	0.37577	N	0.002037	D	0.94588	0.8256	L	0.53249	1.67	0.52099	D	0.999948	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.999;0.985;0.999;0.996;0.94;0.985	D	0.93992	0.7268	10	0.62326	D	0.03	-11.0645	20.6593	0.99626	0.0:0.0:1.0:0.0	.	423;423;423;423;423;423;423	C0IMJ4;F5H628;B1ALD8;Q15063-3;Q15063-4;Q15063-2;Q15063	.;.;.;.;.;.;POSTN_HUMAN	C	423	ENSP00000437959:R423C;ENSP00000369073:R423C;ENSP00000369071:R423C;ENSP00000369067:R423C;ENSP00000369066:R423C;ENSP00000437953:R423C	ENSP00000369066:R423C	R	-	1	0	POSTN	37054628	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.946000	0.56644	2.885000	0.99019	0.655000	0.94253	CGC	-	HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain		0.353	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	protein_coding	OTTHUMT00000044566.2	G	NM_006475		37054628	-1	no_errors	NM_006475.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	38156628	G	A	38156628	3	1	16	1	0	0	0	0	1	0	0	0	12259	1087	38	1	1299	1	POSTN	13	38156628	Missense_Mutation	SNP	G	TCGA-AB-2819-03B-01W-0728-08		38156628	77013250	13	203											
DSCAM	1826	genome.wustl.edu	37	21	41648087	41648087	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chr21:41648087G>A	ENST00000400454.1	-	11	2770	c.2293C>T	c.(2293-2295)Ctc>Ttc	p.L765F		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	765	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACCTTGCAGAGGTAGTAGCCA	0.488																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0			21											73	81	78					21																	41648087		2059	4246	6305	40569957	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2293C>T	21.37:g.41648087G>A	ENSP00000383303:p.Leu765Phe	27	0	0					40569957	68	37.27	41	O60468	Missense_Mutation	SNP	HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.L765F	ENST00000400454.1	37	c.2293	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717979	0.89205	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.27402	1.67;1.67	5.78	4.9	0.64082	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.52837	0.1759	M	0.64567	1.98	0.58432	D	0.999995	D	0.89917	1.0	D	0.87578	0.998	T	0.56408	-0.7984	10	0.72032	D	0.01	.	14.4902	0.67645	0.0698:0.0:0.9302:0.0	.	765	O60469	DSCAM_HUMAN	F	765;517	ENSP00000383303:L765F;ENSP00000385342:L517F	ENSP00000383303:L765F	L	-	1	0	DSCAM	40569957	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.751000	0.98889	1.448000	0.47680	0.650000	0.86243	CTC	-	HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.488	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	G	NM_001389		40569957	-1	no_errors	NM_001389.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	41648087	G	A	41648087	3	1	16	1	0	0	0	0	1	0	0	0	4768	1000	35	2	3837	2	DSCAM	21	41648087	Missense_Mutation	SNP	G	TCGA-AB-2819-03B-01W-0728-08		41648087	6481808	14	204											
PCDH19	57526	genome.wustl.edu	37	X	99662492	99662492	+	Silent	SNP	G	G	A			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chrX:99662492G>A	ENST00000373034.4	-	1	2779	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	PCDH19_ENST00000255531.7_Silent_p.I368I|PCDH19_ENST00000420881.2_Silent_p.I368I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	368	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCACCAAGGCGATCACGTAGC	0.597																																						dbGAP											0			X											51	54	53					X																	99662492		2190	4266	6456	99549148	SO:0001819	synonymous_variant	0			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"Cadherins / Protocadherins : Non-clustered"	14270	protein-coding gene	gene with protein product		300460	"epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1104C>T	X.37:g.99662492G>A		7	0	0					99549148	21	22.22	6	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.I368	ENST00000373034.4	37	c.1104	CCDS55462.1	X																																																																																			-	HMMPfam_Cadherin,superfamily_Cadherin		0.597	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99549148	-1	no_errors	NM_001105243.1	genbank	human	validated	54_36p	silent	SNP	0.920	A	A	99662492	G	A	99662492	2	1	16	1	0	0	0	0	0	0	0	1	11514	1048	37	1		1	PCDH19	23	99662492	Silent	SNP	G	TCGA-AB-2819-03B-01W-0728-08		99662492	55608068	15	205											
RGAG1	57529	genome.wustl.edu	37	X	109697079	109697079	+	Silent	SNP	C	C	A			TCGA-AB-2819-03B-01W-0728-08	TCGA-AB-2819-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7ccedb6e-e411-404a-8441-2330d1f91013	bbc7cf39-e89a-4933-ba26-7cce5c47de87	g.chrX:109697079C>A	ENST00000465301.2	+	3	3480	c.3234C>A	c.(3232-3234)ggC>ggA	p.G1078G	RGAG1_ENST00000540313.1_Silent_p.G1078G	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1078										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GGGCCTCAGGCCCTGGAACAA	0.532																																						dbGAP											0			X											97	86	90					X																	109697079		2203	4300	6503	109583735	SO:0001819	synonymous_variant	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3234C>A	X.37:g.109697079C>A		31	0	0					109583735	103	42.13	75	Q9P2M8	Silent	SNP	HMMPfam_Retrotrans_gag	p.G1078	ENST00000465301.2	37	c.3234	CCDS14552.1	X																																																																																			-	NULL		0.532	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109583735	1	no_errors	NM_020769.1	genbank	human	provisional	54_36p	silent	SNP	0.000	A	A	109697079	C	A	109697079	2	1	16	1	0	0	0	0	0	0	0	1	13274	726	26	4		4	RGAG1	23	109697079	Silent	SNP	C	TCGA-AB-2819-03B-01W-0728-08	10034587	109697079	45573481	16	206											
C1orf103	55791	genome.wustl.edu	37	1	111492550	111492550	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr1:111492550C>G	ENST00000369763.4	-	3	2182	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	LRIF1_ENST00000494675.1_Missense_Mutation_p.D62H|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Missense_Mutation_p.D62H	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	598					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						CTAAAGGAATCGAAACCTTCT	0.388																																						dbGAP											0			1											161	161	161					1																	111492550		2203	4300	6503	111294073	SO:0001583	missense	0			AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"receptor interacting factor 1"	615354	"chromosome 1 open reading frame 103"	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.1792G>C	1.37:g.111492550C>G	ENSP00000358778:p.Asp598His	217	0.46	1		23	36.11	13	111294073	354	32.77	175	Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	NULL	p.D598H	ENST00000369763.4	37	c.1792	CCDS30800.1	1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899272	0.52227	.	.	ENSG00000121931	ENST00000369763;ENST00000494675;ENST00000485275	T;T;T	0.32272	1.87;1.46;1.46	5.69	-2.7	0.06004	.	0.850810	0.10495	N	0.667928	T	0.08846	0.0219	L	0.53249	1.67	0.09310	N	1	B;B	0.17667	0.023;0.002	B;B	0.17722	0.019;0.003	T	0.35325	-0.9793	10	0.44086	T	0.13	-0.2125	2.0826	0.03638	0.1258:0.2681:0.3693:0.2368	.	62;598	Q5T3J3-2;Q5T3J3	.;LRIF1_HUMAN	H	598;62;62	ENSP00000358778:D598H;ENSP00000435259:D62H;ENSP00000432290:D62H	ENSP00000358778:D598H	D	-	1	0	LRIF1	111294073	0.017000	0.18338	0.325000	0.25375	0.971000	0.66376	-0.656000	0.05342	0.023000	0.15187	0.563000	0.77884	GAT	-	NULL		0.388	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf103	protein_coding	OTTHUMT00000032932.2	C	NM_018372		111294073	-1	no_errors	NM_018372.1	genbank	human	validated	54_36p	missense	SNP	0.000	G	G	111492550	C	G	111492550	3	3	17	1	0	0	0	0	1	0	0	0	1977	884	31	4	525	4	C1orf103	1	111492550	Missense_Mutation	SNP	C	TCGA-AB-2820-03B-01W-0728-08		111492550	137758071	1	207											
IL1RL2	8808	genome.wustl.edu	37	2	102855691	102855691	+	Missense_Mutation	SNP	C	C	T	rs199936712	byFrequency	TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr2:102855691C>T	ENST00000264257.2	+	12	1844	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M	IL1RL2_ENST00000441515.2_Missense_Mutation_p.T455M|IL1RL2_ENST00000539491.1_Missense_Mutation_p.T573M|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	573					cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TGTACTCTCACGACTGGCTAA	0.463													C|||	4	0.000798722	0	0	5008	,	,		23321	0.001		0	False		,,,				2504	0.0031					dbGAP											0			2											145	122	130					2																	102855691		2203	4300	6503	102222123	SO:0001583	missense	0			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"Interleukins and interleukin receptors", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1718C>T	2.37:g.102855691C>T	ENSP00000264257:p.Thr573Met	126	1.56	2					102222123	98	33.56	50	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Missense_Mutation	SNP	HMMPfam_TIR,HMMSmart_TIR,superfamily_TIR,HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726	p.T573M	ENST00000264257.2	37	c.1718	CCDS2056.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.708	-0.788143	0.02884	.	.	ENSG00000115598	ENST00000264257;ENST00000441515;ENST00000539491	T;T;T	0.03831	4.11;3.79;4.11	2.43	-4.86	0.03132	.	.	.	.	.	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39643	-0.9604	9	0.49607	T	0.09	.	4.5779	0.12243	0.2668:0.3826:0.0:0.3506	.	455;573	A4FU63;Q9HB29	.;ILRL2_HUMAN	M	573;455;573	ENSP00000264257:T573M;ENSP00000413348:T455M;ENSP00000442184:T573M	ENSP00000264257:T573M	T	+	2	0	IL1RL2	102222123	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.333000	0.07894	-2.822000	0.00343	-2.890000	0.00095	ACG	-	NULL		0.463	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	protein_coding	OTTHUMT00000253290.1	C	NM_003854		102222123	1	no_errors	NM_003854.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	102855691	C	T	102855691	3	4	17	1	0	0	0	0	1	0	0	0	7664	536	19	1	1760	1	IL1RL2	2	102855691	Missense_Mutation	SNP	C	TCGA-AB-2820-03B-01W-0728-08		102855691	140343682	2	208											
MFN1	55669	genome.wustl.edu	37	3	179080206	179080206	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr3:179080206G>A	ENST00000471841.1	+	5	598	c.472G>A	c.(472-474)Gta>Ata	p.V158I	MFN1_ENST00000263969.5_Missense_Mutation_p.V158I|MFN1_ENST00000280653.7_Missense_Mutation_p.V158I	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	158	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGGCTGTCTTGTACGTGTGTT	0.408																																						dbGAP											0			3											115	111	113					3																	179080206		2203	4300	6503	180562900	SO:0001583	missense	0			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.472G>A	3.37:g.179080206G>A	ENSP00000420617:p.Val158Ile	123	1.6	2		14	50	15	180562900	105	40.66	74	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	HMMPfam_Dynamin_N,HMMPfam_Fzo_mitofusin,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V158I	ENST00000471841.1	37	c.472	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396771	0.83120	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.99129	-3.54;-3.54;-3.54;-5.46;-4.16	5.54	5.54	0.83059	Dynamin, GTPase domain (1);	0.055721	0.64402	N	0.000001	D	0.98448	0.9483	N	0.17901	0.54	0.80722	D	1	D;B;B	0.67145	0.996;0.118;0.166	D;B;B	0.77557	0.99;0.083;0.09	D	0.98766	1.0726	10	0.32370	T	0.25	-14.4966	19.8254	0.96616	0.0:0.0:1.0:0.0	.	158;186;158	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	I	158;158;158;158;11;21	ENSP00000420617:V158I;ENSP00000280653:V158I;ENSP00000263969:V158I;ENSP00000420148:V11I;ENSP00000419926:V21I	ENSP00000263969:V158I	V	+	1	0	MFN1	180562900	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	9.358000	0.97109	2.754000	0.94517	0.655000	0.94253	GTA	-	HMMPfam_Dynamin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.408	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	G	NM_017927		180562900	1	no_errors	NM_033540.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	179080206	G	A	179080206	3	1	17	1	0	0	0	0	1	0	0	0	9523	1377	48	2	486	2	MFN1	3	179080206	Missense_Mutation	SNP	G	TCGA-AB-2820-03B-01W-0728-08		179080206	18942224	3	209											
GPR125	166647	genome.wustl.edu	37	4	22389827	22389827	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr4:22389827G>A	ENST00000334304.5	-	19	3736	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1156					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCTAAAGGCGCCACGTGCAT	0.453																																						dbGAP											0			4											73	73	73					4																	22389827		2203	4300	6503	21998925	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"-", "GPCR / Class B : Orphans", "Immunoglobulin superfamily / I-set domain containing"	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.3467C>T	4.37:g.22389827G>A	ENSP00000334952:p.Ala1156Val	92	1.08	1		1	75	3	21998925	131	46	115	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_7tm_2,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00409,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Immunoglobulin,superfamily_L domain-like	p.A1156V	ENST00000334304.5	37	c.3467	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394883	0.62066	.	.	ENSG00000152990	ENST00000334304	T	0.55052	0.54	5.64	5.64	0.86602	.	0.050514	0.85682	D	0.000000	T	0.50548	0.1622	M	0.62723	1.935	0.80722	D	1	P;D	0.59357	0.8;0.985	B;B	0.38106	0.209;0.265	T	0.53697	-0.8402	10	0.30078	T	0.28	.	19.7052	0.96069	0.0:0.0:1.0:0.0	.	1013;1156	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	V	1156	ENSP00000334952:A1156V	ENSP00000334952:A1156V	A	-	2	0	GPR125	21998925	1.000000	0.71417	0.959000	0.39883	0.710000	0.40934	9.225000	0.95219	2.637000	0.89404	0.650000	0.86243	GCG	-	NULL		0.453	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	G			21998925	-1	no_errors	NM_145290.2	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	22389827	G	A	22389827	3	1	17	1	0	0	0	0	1	0	0	0	6639	1087	38	1	502	1	GPR125	4	22389827	Missense_Mutation	SNP	G	TCGA-AB-2820-03B-01W-0728-08		22389827	168764449	4	210											
DAB2	1601	genome.wustl.edu	37	5	39383029	39383030	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	AC	AC	AC	-	AC	AC	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr5:39383029_39383030delAC	ENST00000320816.6	-	10	1498_1499	c.1031_1032delGT	c.(1030-1032)ggtfs	p.G344fs	DAB2_ENST00000545653.1_Frame_Shift_Del_p.G323fs|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000512525.1_5'Flank|DAB2_ENST00000509337.1_Frame_Shift_Del_p.G323fs	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	344	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CAAATTGCTGACCAAAGTAGTC	0.49																																						dbGAP											0			5																																								39418787	SO:0001589	frameshift_variant	0			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)", "disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.1031_1032delGT	5.37:g.39383029_39383030delAC	ENSP00000313391:p.Gly344fs	0	0	0		0	0	0	39418786	0	40.43	76	A6NES5|Q13598|Q9BTY0|Q9UK04	Frame_Shift_Del	DEL	PatternScan_PFKB_KINASES_1,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like	p.G344fs	ENST00000320816.6	37	c.1032_1031	CCDS34149.1	5																																																																																			-	NULL		0.49	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	protein_coding	OTTHUMT00000367014.1	AC	NM_001343		39418787	-1	no_errors	NM_001343.2	genbank	human	validated	54_36p	frame_shift_del	DEL	0.972:1.000	-	-	39383030	AC	-	39383029	7	5	17	1	0	1	0	1	0	0	0	0	4218	262	10	0	1300	0	DAB2	5	39383029	Frame_Shift_Del	DEL	AC	TCGA-AB-2820-03B-01W-0728-08		39383029	141532231	5	211											
TTC26	79989	genome.wustl.edu	37	7	138853105	138853105	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr7:138853105G>T	ENST00000464848.1	+	11	1047	c.967G>T	c.(967-969)Gga>Tga	p.G323*	TTC26_ENST00000430935.1_Nonsense_Mutation_p.G323*|TTC26_ENST00000495038.1_Nonsense_Mutation_p.G192*|TTC26_ENST00000478836.2_Nonsense_Mutation_p.G216*|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Nonsense_Mutation_p.G292*			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	323					cilium assembly (GO:0042384)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle B (GO:0030992)|primary cilium (GO:0072372)				breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TATTCTCAAAGGAGTGGTCAA	0.368																																						dbGAP											0			7											136	122	126					7																	138853105		2203	4300	6503	138503645	SO:0001587	stop_gained	0			AK022633	CCDS5852.1, CCDS55172.1, CCDS55173.1, CCDS75665.1	7q34	2013-01-11			ENSG00000105948	ENSG00000105948		"Intraflagellar transport homologs", "Tetratricopeptide (TTC) repeat domain containing"	21882	protein-coding gene	gene with protein product							Standard	NM_001144920		Approved	FLJ12571, dyf-13, DYF13	uc003vus.2	A0AVF1	OTTHUMG00000157472	ENST00000464848.1:c.967G>T	7.37:g.138853105G>T	ENSP00000419279:p.Gly323*	191	2.54	5					138503645	104	49.76	104	A4D1S3|B7Z5M0|C9J2N7|F8W724|Q9H9S8|Q9NTC0	Nonsense_Mutation	SNP	superfamily_SSF48452	p.G323*	ENST00000464848.1	37	c.967	CCDS5852.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.427109	0.97559	.	.	ENSG00000105948	ENST00000430935;ENST00000495038;ENST00000478836;ENST00000464848;ENST00000343187	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.3245	0.90248	0.0:0.0:1.0:0.0	.	.	.	.	X	323;192;216;323;292	.	ENSP00000339135:G292X	G	+	1	0	TTC26	138503645	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.175000	0.89684	2.628000	0.89032	0.591000	0.81541	GGA	-	superfamily_SSF48452		0.368	TTC26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC26	protein_coding	OTTHUMT00000348919.2	G	NM_024926		138503645	1	no_errors	NM_024926.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	138853105	G	T	138853105	4	4	17	1	0	0	0	0	0	1	0	0	16691	1001	35	4	1009	4	TTC26	7	138853105	Nonsense_Mutation	SNP	G	TCGA-AB-2820-03B-01W-0728-08		138853105	20285558	6	212											
CSMD1	64478	genome.wustl.edu	37	8	3200835	3200835	+	Silent	SNP	A	A	T			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr8:3200835A>T	ENST00000520002.1	-	24	4170	c.3615T>A	c.(3613-3615)ggT>ggA	p.G1205G	CSMD1_ENST00000400186.3_Silent_p.G1205G|CSMD1_ENST00000537824.1_Silent_p.G1204G|CSMD1_ENST00000539096.1_Silent_p.G1204G|CSMD1_ENST00000602723.1_Silent_p.G1205G|CSMD1_ENST00000542608.1_Silent_p.G1204G|CSMD1_ENST00000602557.1_Silent_p.G1205G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1205	CUB 7. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGTTGAAAACCTTGGTCGG	0.388																																						dbGAP											0			8											184	181	182					8																	3200835		1908	4128	6036	3188242	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3615T>A	8.37:g.3200835A>T		110	5.04	6					3188242	94	57.85	140	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain	p.F1206I	ENST00000520002.1	37	c.3616		8	.	.	.	.	.	.	.	.	.	.	A	2.158	-0.392963	0.04899	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.76	-11.5	0.00074	.	.	.	.	.	T	0.29914	0.0748	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41538	-0.9503	4	.	.	.	.	0.5129	0.00598	0.2836:0.2457:0.1264:0.3443	.	.	.	.	I	685	.	.	F	-	1	0	CSMD1	3188242	0.161000	0.22892	0.022000	0.16811	0.269000	0.26545	-0.594000	0.05733	-2.943000	0.00296	-1.079000	0.02226	TTT	-	NULL		0.388	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	A	NM_033225		3188242	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033225.4	genbank	human	validated	54_36p	missense	SNP	0.980	T	T	3200835	A	T	3200835	2	4	17	1	0	0	0	0	0	0	0	1	3944	30	2	5		5	CSMD1	8	3200835	Silent	SNP	A	TCGA-AB-2820-03B-01W-0728-08		3200835	143163187	7	213											
KCNK9	51305	genome.wustl.edu	37	8	140630863	140630863	+	Silent	SNP	G	G	T			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr8:140630863G>T	ENST00000520439.1	-	2	826	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.R255R	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	255					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	GCATCCCGCCGCTCATCCTCA	0.602																																						dbGAP											0			8											39	44	42					8																	140630863		2203	4300	6503	140700045	SO:0001819	synonymous_variant	0			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.763C>A	8.37:g.140630863G>T		88	0	0					140700045	72	33.64	37	Q2M290|Q540F2	Silent	SNP	HMMPfam_Ion_trans_2,superfamily_SSF81324	p.R255	ENST00000520439.1	37	c.763	CCDS6377.1	8																																																																																			-	superfamily_SSF81324		0.602	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	protein_coding	OTTHUMT00000378473.1	G	NM_016601		140700045	-1	no_errors	NM_016601.2	genbank	human	reviewed	54_36p	silent	SNP	0.977	T	T	140630863	G	T	140630863	2	4	17	1	0	0	0	0	0	0	0	1	8072	1086	38	4		4	KCNK9	8	140630863	Silent	SNP	G	TCGA-AB-2820-03B-01W-0728-08	137430028	140630863	5733159	8	214											
SLC18A2	6571	genome.wustl.edu	37	10	119003781	119003781	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr10:119003781G>A	ENST00000298472.5	+	3	564	c.421G>A	c.(421-423)Gtc>Atc	p.V141I	SLC18A2_ENST00000497497.1_3'UTR|RP11-501J20.5_ENST00000425264.1_RNA	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	141					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAAGCCACCGTCCAGCTCAT	0.478																																						dbGAP											0			10											63	59	60					10																	119003781		2203	4300	6503	118993771	SO:0001583	missense	0			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"Solute carriers"	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.421G>A	10.37:g.119003781G>A	ENSP00000298472:p.Val141Ile	90	2.17	2		0	100	3	118993771	54	55.56	70	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS general substrate transporter	p.V141I	ENST00000298472.5	37	c.421	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667592	0.47677	.	.	ENSG00000165646	ENST00000298472	T	0.57752	0.38	5.71	2.31	0.28768	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.122077	0.53938	N	0.000041	T	0.46308	0.1386	L	0.60455	1.87	0.52099	D	0.999947	B	0.18461	0.028	B	0.21360	0.034	T	0.40440	-0.9563	10	0.36615	T	0.2	-24.6891	10.5411	0.45033	0.2478:0.0:0.7522:0.0	.	141	Q05940	VMAT2_HUMAN	I	141	ENSP00000298472:V141I	ENSP00000298472:V141I	V	+	1	0	SLC18A2	118993771	1.000000	0.71417	0.672000	0.29872	0.978000	0.69477	3.545000	0.53648	0.726000	0.32339	0.655000	0.94253	GTC	-	HMMPfam_MFS_1,superfamily_MFS general substrate transporter		0.478	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	protein_coding	OTTHUMT00000050563.1	G	NM_003054		118993771	1	no_errors	NM_003054.3	genbank	human	provisional	54_36p	missense	SNP	0.971	A	A	119003781	G	A	119003781	3	1	17	1	0	0	0	0	1	0	0	0	14426	1145	40	1	427	1	SLC18A2	10	119003781	Missense_Mutation	SNP	G	TCGA-AB-2820-03B-01W-0728-08		119003781	16530966	9	215											
IPO7	10527	genome.wustl.edu	37	11	9455150	9455150	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr11:9455150G>A	ENST00000379719.3	+	17	2057	c.1915G>A	c.(1915-1917)Gtc>Atc	p.V639I	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	639					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CTGCTTACAGGTCATTGGTAC	0.358																																						dbGAP											0			11											112	102	106					11																	9455150		2201	4295	6496	9411726	SO:0001583	missense	0			AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"Importins"	9852	protein-coding gene	gene with protein product		605586	"RAN binding protein 7"	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.1915G>A	11.37:g.9455150G>A	ENSP00000369042:p.Val639Ile	66	2.94	2		17	72.58	45	9411726	89	67.39	186	A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	HMMPfam_IBN_N,superfamily_ARM-type_fold	p.V639I	ENST00000379719.3	37	c.1915	CCDS31425.1	11	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012682	0.54468	.	.	ENSG00000205339	ENST00000379719	T	0.41065	1.01	5.29	5.29	0.74685	Armadillo-like helical (1);Armadillo-type fold (1);	0.113194	0.64402	D	0.000014	T	0.33904	0.0879	L	0.29908	0.895	0.80722	D	1	B	0.16802	0.019	B	0.21360	0.034	T	0.11891	-1.0569	10	0.14252	T	0.57	.	18.9919	0.92796	0.0:0.0:1.0:0.0	.	639	O95373	IPO7_HUMAN	I	639	ENSP00000369042:V639I	ENSP00000369042:V639I	V	+	1	0	IPO7	9411726	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	9.868000	0.99621	2.495000	0.84180	0.460000	0.39030	GTC	-	superfamily_ARM-type_fold		0.358	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO7	protein_coding	OTTHUMT00000386022.1	G	NM_006391		9411726	1	no_errors	NM_006391.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	9455150	G	A	9455150	3	1	17	1	0	0	0	0	1	0	0	0	7797	1261	44	2	1981	2	IPO7	11	9455150	Missense_Mutation	SNP	G	TCGA-AB-2820-03B-01W-0728-08		9455150	125551366	10	216											
SUDS3	64426	genome.wustl.edu	37	12	118841283	118841283	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr12:118841283C>A	ENST00000543473.1	+	10	1076	c.764C>A	c.(763-765)gCt>gAt	p.A255D	SUDS3_ENST00000397564.2_Missense_Mutation_p.A256D|SUDS3_ENST00000541280.1_3'UTR	NM_022491.2	NP_071936.2	Q9H7L9	SDS3_HUMAN	suppressor of defective silencing 3 homolog (S. cerevisiae)	255					apoptotic process (GO:0006915)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTTCGAAGCTCGGATAGAA	0.473																																						dbGAP											0			12											50	49	49					12																	118841283		1938	4136	6074	117325666	SO:0001583	missense	0			AK023801	CCDS44993.1	12q24.23	2006-02-13	2006-02-13		ENSG00000111707	ENSG00000111707			29545	protein-coding gene	gene with protein product	"sin3A-associated protein, 45kDa"	608250	"suppressor of defective silencing 3 homolog (SDS3, S. cerevisiae)"			11909966	Standard	NM_022491		Approved	SDS3, FLJ00052, SAP45	uc001twz.3	Q9H7L9	OTTHUMG00000168884	ENST00000543473.1:c.764C>A	12.37:g.118841283C>A	ENSP00000443988:p.Ala255Asp	99	0	0		11	31.25	5	117325666	117	50	117	Q4KMQ5|Q8N6H0|Q9H8D2	Missense_Mutation	SNP	HMMPfam_Sds3	p.A255D	ENST00000543473.1	37	c.764	CCDS44993.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.120466	0.94385	.	.	ENSG00000111707	ENST00000543473;ENST00000397564	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	M	0.68593	2.085	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.77362	-0.2616	9	0.46703	T	0.11	-7.3762	18.5243	0.90965	0.0:1.0:0.0:0.0	.	255	Q9H7L9	SDS3_HUMAN	D	255;256	.	ENSP00000380695:A256D	A	+	2	0	SUDS3	117325666	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.760000	0.74939	2.691000	0.91804	0.655000	0.94253	GCT	-	NULL		0.473	SUDS3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SUDS3	protein_coding	OTTHUMT00000401504.1	C	NM_022491		117325666	1	no_errors	NM_022491.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	118841283	C	A	118841283	3	1	17	1	0	0	0	0	1	0	0	0	15366	797	28	4	802	4	SUDS3	12	118841283	Missense_Mutation	SNP	C	TCGA-AB-2820-03B-01W-0728-08		118841283	15010612	11	217											
TUBA3C	7278	genome.wustl.edu	37	13	19751584	19751584	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr13:19751584G>A	ENST00000400113.3	-	4	643	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	180					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTCCACCACGGCCGTGGAGAC	0.542																																						dbGAP											0			13											151	154	153					13																	19751584		2203	4300	6503	18649584	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.539C>T	13.37:g.19751584G>A	ENSP00000382982:p.Ala180Val	66	1.49	1					18649584	98	22.22	28	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like	p.A180V	ENST00000400113.3	37	c.539	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	10.85	1.467479	0.26335	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.64438	-0.1	1.19	0.237	0.15475	.	0.000000	0.46758	U	0.000271	T	0.63931	0.2553	.	.	.	0.36367	D	0.861094	.	.	.	.	.	.	T	0.67019	-0.5776	7	0.87932	D	0	.	7.0315	0.24970	0.0:0.2868:0.7132:0.0	.	.	.	.	V	180	ENSP00000382982:A180V	ENSP00000354037:A180V	A	-	2	0	TUBA3C	18649584	1.000000	0.71417	0.983000	0.44433	0.518000	0.34316	6.101000	0.71479	0.056000	0.16144	0.162000	0.16502	GCC	-	HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like		0.542	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	G	NM_006001		18649584	-1	no_errors	NM_006001.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	19751584	G	A	19751584	3	1	17	1	0	0	0	0	1	0	0	0	16743	1203	42	2	821	2	TUBA3C	13	19751584	Missense_Mutation	SNP	G	TCGA-AB-2820-03B-01W-0728-08		19751584	95418294	12	218											
TGM5	9333	genome.wustl.edu	37	15	43525775	43525775	+	Silent	SNP	G	G	A	rs146012721	byFrequency	TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr15:43525775G>A	ENST00000220420.5	-	12	1993	c.1986C>T	c.(1984-1986)ctC>ctT	p.L662L	TGM5_ENST00000349114.4_Silent_p.L580L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	662					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GTTTCTTGAAGAGGCCACTTC	0.507													G|||	3	0.000599042	0.0023	0	5008	,	,		21212	0		0	False		,,,				2504	0					dbGAP											0			15						G	,	17,4389	24.3+/-50.5	0,17,2186	116	115	115		1740,1986	4	1	15	dbSNP_134	115	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	TGM5	NM_004245.3,NM_201631.3	,	0,17,6485	AA,AG,GG		0.0,0.3858,0.1307	,	580/639,662/721	43525775	17,12987	2203	4299	6502	41313067	SO:0001819	synonymous_variant	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"Transglutaminases"	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1986C>T	15.37:g.43525775G>A		111	0	0					41313067	98	40.96	68	O43549|Q0VF40|Q9UEZ4	Silent	SNP	HMMPfam_Transglut_N,HMMPfam_Transglut_core,HMMSmart_SM00460,HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains,PatternScan_TRANSGLUTAMINASES,superfamily_E set domains,superfamily_Cysteine proteinases	p.L662	ENST00000220420.5	37	c.1986	CCDS32212.1	15																																																																																			-	HMMPfam_Transglut_C,superfamily_Transglutaminase two C-terminal domains		0.507	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	protein_coding	OTTHUMT00000432257.1	G	NM_004245		41313067	-1	no_errors	NM_201631.2	genbank	human	validated	54_36p	silent	SNP	0.927	A	A	43525775	G	A	43525775	2	1	17	1	0	0	0	0	0	0	0	1	15830	929	33	2		2	TGM5	15	43525775	Silent	SNP	G	TCGA-AB-2820-03B-01W-0728-08		43525775	59005617	13	219											
TP53	7157	genome.wustl.edu	37	17	7578181	7578182	+	Frame_Shift_Ins	INS	-	-	GCGGCTC	rs138983188		TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	-	-	-	GCGGCTC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr17:7578181_7578182insGCGGCTC	ENST00000269305.4	-	6	856_857	c.667_668insGAGCCGC	c.(667-669)cctfs	p.P223fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.P223fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P223fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P223fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P223fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P223fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	223	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a sporadic cancer; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.P223L(4)|p.P223fs*1(3)|p.P223H(2)|p.Y220_P223delYEPP(1)|p.P223R(1)|p.P130fs*1(1)|p.P223S(1)|p.V218_E224delVPYEPPE(1)|p.P222fs*24(1)|p.P223A(1)|p.P223fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCAGACCTCAGGCGGCTCATAG	0.545		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	36	Unknown(11)|Substitution - Missense(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(2)	biliary_tract(5)|endometrium(5)|ovary(5)|bone(4)|upper_aerodigestive_tract(3)|stomach(2)|central_nervous_system(2)|oesophagus(2)|thyroid(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|skin(1)|meninges(1)|prostate(1)	17																																								7518907	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.661_667dupGAGCCGC	17.37:g.7578182_7578188dupGCGGCTC	ENSP00000269305:p.Pro223fs								7518906				Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.P223fs	ENST00000269305.4	37	c.668_667	CCDS11118.1	17																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_P53		0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	-	NM_000546		7518907	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.987:0.989	GCGGCTC	GCGGCTC	7578182	-	GCGGCTC	7578181	7	5	17	1	0	1	1	0	0	0	0	0	16378	1000	35	0	626	0	TP53	17	7578181	Frame_Shift_Ins	INS	-	TCGA-AB-2820-03B-01W-0728-08		7578181	73617029	14	220											
SUZ12	23512	genome.wustl.edu	37	17	30267338	30267338	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr17:30267338G>A	ENST00000322652.5	+	2	537	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	SUZ12_ENST00000580398.1_Missense_Mutation_p.R103Q	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	103					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R103Q(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTTCGAACTCGGAATCTCATA	0.303			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	1	Substitution - Missense(1)	large_intestine(1)	17											85	79	81					17																	30267338		2203	4294	6497	27291451	SO:0001583	missense	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.308G>A	17.37:g.30267338G>A	ENSP00000316578:p.Arg103Gln	98	0	0		19	36.67	11	27291451	30	54.55	36	Q96BD9	Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_VEFS-Box	p.R103Q	ENST00000322652.5	37	c.308	CCDS11270.1	17	.	.	.	.	.	.	.	.	.	.	.	14.57	2.575809	0.45902	.	.	ENSG00000178691	ENST00000322652	T	0.23552	1.9	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.62723	1.935	0.51233	D	0.999911	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.988	T	0.46148	-0.9212	10	0.87932	D	0	-5.88	12.7265	0.57174	0.0805:0.0:0.9195:0.0	.	103;103	A8K1U9;Q15022	.;SUZ12_HUMAN	Q	103	ENSP00000316578:R103Q	ENSP00000316578:R103Q	R	+	2	0	SUZ12	27291451	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.089000	0.94137	2.383000	0.81215	0.597000	0.82753	CGG	-	NULL		0.303	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	protein_coding	OTTHUMT00000256260.2	G	NM_015355		27291451	1	no_errors	NM_015355.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	30267338	G	A	30267338	3	1	17	1	0	0	0	0	1	0	0	0	15413	1116	39	1	314	1	SUZ12	17	30267338	Missense_Mutation	SNP	G	TCGA-AB-2820-03B-01W-0728-08	22689157	30267338	50927872	15	221											
KIAA1683	80726	genome.wustl.edu	37	19	18368587	18368587	+	Silent	SNP	G	G	T			TCGA-AB-2820-03B-01W-0728-08	TCGA-AB-2820-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	19900d81-576b-44c1-975d-a874c0b19b15	2f7227c5-2077-405c-ac7c-6589765d1f0b	g.chr19:18368587G>T	ENST00000600328.3	-	4	3139	c.2946C>A	c.(2944-2946)gcC>gcA	p.A982A	KIAA1683_ENST00000392413.4_Silent_p.A1169A|KIAA1683_ENST00000600359.3_Silent_p.A936A|PDE4C_ENST00000596647.1_5'Flank|PDE4C_ENST00000355502.3_5'Flank			Q9H0B3	K1683_HUMAN	KIAA1683	982	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGCCGCGCCAGGCAGACTGGA	0.701																																						dbGAP											0			19											24	28	26					19																	18368587		2161	4190	6351	18229587	SO:0001819	synonymous_variant	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2946C>A	19.37:g.18368587G>T		11	0	0		18	25	6	18229587	12	42.86	9	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A982	ENST00000600328.3	37	c.2946	CCDS32958.1	19																																																																																			-	HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.701	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	protein_coding	OTTHUMT00000466312.3	G			18229587	-1	no_errors	NM_025249.1	genbank	human	validated	54_36p	silent	SNP	0.384	T	T	18368587	G	T	18368587	2	4	17	1	0	0	0	0	0	0	0	1	8251	987	35	4		4	KIAA1683	19	18368587	Silent	SNP	G	TCGA-AB-2820-03B-01W-0728-08		18368587	40760396	16	222											
GALNT2	2590	genome.wustl.edu	37	1	230415050	230415050	+	Splice_Site	SNP	A	A	C			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr1:230415050A>C	ENST00000366672.4	+	16	1634	c.1562A>C	c.(1561-1563)aAa>aCa	p.K521T	GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.3_ENST00000414640.1_RNA|GALNT2_ENST00000543760.1_Splice_Site_p.K483T	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	521	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				GTCTTGCAGAAATGGGAACAG	0.547																																						dbGAP											0			1											56	52	53					1																	230415050		2203	4300	6503	228481673	SO:0001630	splice_region_variant	0			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"Glycosyltransferase family 2 domain containing"	4124	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 2"	602274	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1561-1A>C	1.37:g.230415050A>C		36	5.26	2		48	42.17	35	228481673	91	39.87	61	A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases	p.K521T	ENST00000366672.4	37	c.1562	CCDS1582.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.425087	0.83667	.	.	ENSG00000143641	ENST00000543760;ENST00000366672	T;T	0.31769	1.48;1.48	5.45	5.45	0.79879	Ricin B-related lectin (1);Ricin B lectin (3);	0.043579	0.85682	D	0.000000	T	0.51958	0.1705	M	0.68728	2.09	0.80722	D	1	D;D	0.62365	0.991;0.976	D;P	0.72338	0.977;0.907	T	0.45571	-0.9252	10	0.23302	T	0.38	.	15.5034	0.75719	1.0:0.0:0.0:0.0	.	521;483	Q10471;G3V1S6	GALT2_HUMAN;.	T	483;521	ENSP00000445017:K483T;ENSP00000355632:K521T	ENSP00000355632:K521T	K	+	2	0	GALNT2	228481673	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.284000	0.95882	2.082000	0.62665	0.402000	0.26972	AAA	-	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins		0.547	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	protein_coding	OTTHUMT00000092158.1	A	NM_004481	Missense_Mutation	228481673	1	no_errors	NM_004481.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	230415050	A	C	230415050	5	2	18	1	0	0	0	0	0	0	1	0	6213	28	1	5	1624	5	GALNT2	1	230415050	Splice_Site	SNP	A	TCGA-AB-2821-03B-01W-0728-08		230415050	18835571	1	223											
MFSD6	54842	genome.wustl.edu	37	2	191300983	191300983	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr2:191300983T>G	ENST00000392328.1	+	3	552	c.228T>G	c.(226-228)ttT>ttG	p.F76L	MFSD6_ENST00000281416.7_Missense_Mutation_p.F76L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	76					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCTTTTATTTTTTCTTTTACT	0.398																																						dbGAP											0			2											81	89	86					2																	191300983		2203	4300	6503	191009228	SO:0001583	missense	0				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.228T>G	2.37:g.191300983T>G	ENSP00000376141:p.Phe76Leu	99	0	0		25	52.73	29	191009228	161	38.4	101	D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.F76L	ENST00000392328.1	37	c.228	CCDS2306.1	2	.	.	.	.	.	.	.	.	.	.	T	15.94	2.981625	0.53827	.	.	ENSG00000151690	ENST00000432036;ENST00000392328;ENST00000445546;ENST00000281416	D;D	0.82167	-1.58;-1.58	5.49	1.75	0.24633	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.83036	0.5167	L	0.45352	1.415	0.80722	D	1	D	0.55605	0.972	P	0.59948	0.866	T	0.78388	-0.2223	10	0.39692	T	0.17	-26.8628	8.287	0.31935	0.0:0.2983:0.0:0.7017	.	76	Q6ZSS7	MFSD6_HUMAN	L	76	ENSP00000376141:F76L;ENSP00000281416:F76L	ENSP00000281416:F76L	F	+	3	2	MFSD6	191009228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.532000	0.36029	0.147000	0.19030	0.528000	0.53228	TTT	-	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter		0.398	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	protein_coding	OTTHUMT00000255931.1	T			191009228	1	no_errors	NM_017694.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	191300983	T	G	191300983	3	3	18	1	0	0	0	0	1	0	0	0	9535	1838	64	5	230	5	MFSD6	2	191300983	Missense_Mutation	SNP	T	TCGA-AB-2821-03B-01W-0728-08		191300983	51898390	2	224											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	33	0	0		81	34.15	42	208821358	93	36.67	55	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	18	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2821-03B-01W-0728-08	17812130	209113113	34086260	3	225											
ATG16L1	55054	genome.wustl.edu	37	2	234201946	234201946	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr2:234201946T>A	ENST00000392017.4	+	17	1930	c.1673T>A	c.(1672-1674)cTg>cAg	p.L558Q	ATG16L1_ENST00000392018.1_Missense_Mutation_p.L575Q|ATG16L1_ENST00000373525.5_Missense_Mutation_p.L379Q|ATG16L1_ENST00000392020.4_Missense_Mutation_p.L539Q|ATG16L1_ENST00000347464.5_Missense_Mutation_p.L395Q	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	558					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GAGGGCTCTCTGTATATCTGG	0.512																																						dbGAP											0			2											135	126	129					2																	234201946		2203	4300	6503	233866685	SO:0001583	missense	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.1673T>A	2.37:g.234201946T>A	ENSP00000375872:p.Leu558Gln	262	0	0		23	30.3	10	233866685	483	36.46	280	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_ATG16,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.L558Q	ENST00000392017.4	37	c.1673	CCDS2503.2	2	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773393	0.69992	.	.	ENSG00000085978	ENST00000392017;ENST00000347464;ENST00000373525;ENST00000392020;ENST00000392018;ENST00000334050	T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.97110	0.994;1.0;0.998;1.0;0.997	D	0.84074	0.0381	10	0.87932	D	0	.	15.6101	0.76710	0.0:0.0:0.0:1.0	.	512;539;379;558;395	B7ZLM5;Q676U5-2;Q676U5-4;Q676U5;A3EXL0	.;.;.;A16L1_HUMAN;.	Q	558;395;379;539;575;217	ENSP00000375872:L558Q;ENSP00000318259:L395Q;ENSP00000362625:L379Q;ENSP00000375875:L539Q;ENSP00000375873:L575Q	ENSP00000334016:L217Q	L	+	2	0	ATG16L1	233866685	1.000000	0.71417	0.144000	0.22314	0.503000	0.33858	7.459000	0.80802	2.085000	0.62840	0.482000	0.46254	CTG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.512	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	protein_coding	OTTHUMT00000257069.2	T	NM_017974		233866685	1	no_errors	NM_030803.3	genbank	human	validated	54_36p	missense	SNP	0.994	A	A	234201946	T	A	234201946	3	1	18	1	0	0	0	0	1	0	0	0	1091	1580	55	5	1739	5	ATG16L1	2	234201946	Missense_Mutation	SNP	T	TCGA-AB-2821-03B-01W-0728-08	25088833	234201946	8997427	4	226											
BOD1L	259282	genome.wustl.edu	37	4	13615843	13615843	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr4:13615843T>C	ENST00000040738.5	-	4	1286	c.1151A>G	c.(1150-1152)aAa>aGa	p.K384R		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	384	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTCAACAGTTTTAGCTTTATT	0.318																																						dbGAP											0			4											43	39	41					4																	13615843		2107	4075	6182	13224941	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"family with sequence similarity 44, member A", "biorientation of chromosomes in cell division 1-like"	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1151A>G	4.37:g.13615843T>C	ENSP00000040738:p.Lys384Arg	74	0	0		30	55.22	37	13224941	154	36.59	90	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	HMMPfam_AT_hook,HMMSmart_AT_hook,superfamily_SSF81995	p.K384R	ENST00000040738.5	37	c.1151	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	T	6.335	0.429862	0.11987	.	.	ENSG00000038219	ENST00000040738	T	0.09073	3.02	5.45	1.77	0.24775	.	0.286026	0.25148	N	0.032773	T	0.06416	0.0165	L	0.35414	1.06	0.09310	N	1	B	0.25390	0.125	B	0.20184	0.028	T	0.31024	-0.9958	10	0.42905	T	0.14	-14.3537	8.7726	0.34742	0.0:0.217:0.0:0.783	.	384	Q8NFC6	BOD1L_HUMAN	R	384	ENSP00000040738:K384R	ENSP00000040738:K384R	K	-	2	0	BOD1L	13224941	0.439000	0.25610	0.005000	0.12908	0.091000	0.18340	1.323000	0.33701	0.464000	0.27142	0.482000	0.46254	AAA	-	superfamily_SSF81995		0.318	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L	protein_coding	OTTHUMT00000207321.1	T	NM_148894		13224941	-1	no_errors	NM_148894.2	genbank	human	validated	54_36p	missense	SNP	0.002	C	C	13615843	T	C	13615843	3	2	18	1	0	0	0	0	1	0	0	0	1483	1841	64	3	8096	3	BOD1L	4	13615843	Missense_Mutation	SNP	T	TCGA-AB-2821-03B-01W-0728-08		13615843	177538433	5	227											
FAT2	2196	genome.wustl.edu	37	5	150928964	150928964	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr5:150928964C>T	ENST00000261800.5	-	8	4693	c.4681G>A	c.(4681-4683)Gag>Aag	p.E1561K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1561	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTTGCCTCATAATGGAGC	0.567																																						dbGAP											0			5											77	69	72					5																	150928964		2203	4300	6503	150909157	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"Cadherins / Cadherin-related"	3596	protein-coding gene	gene with protein product	"cadherin-related family member 9"	604269	"FAT tumor suppressor (Drosophila) homolog 2", "FAT tumor suppressor homolog 2 (Drosophila)"			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.4681G>A	5.37:g.150928964C>T	ENSP00000261800:p.Glu1561Lys	27	0	0					150909157	91	44.51	73	O75091|Q9NSR7	Missense_Mutation	SNP	HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,superfamily_EGF/Laminin	p.E1561K	ENST00000261800.5	37	c.4681	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709688	0.48517	.	.	ENSG00000086570	ENST00000261800	T	0.60920	0.15	4.66	4.66	0.58398	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	D	0.000010	T	0.61874	0.2382	L	0.38692	1.165	0.47778	D	0.999511	D	0.71674	0.998	D	0.71870	0.975	T	0.54794	-0.8240	10	0.13108	T	0.6	.	12.4006	0.55410	0.0:0.9178:0.0:0.0822	.	1561	Q9NYQ8	FAT2_HUMAN	K	1561	ENSP00000261800:E1561K	ENSP00000261800:E1561K	E	-	1	0	FAT2	150909157	0.998000	0.40836	0.994000	0.49952	0.140000	0.21249	3.629000	0.54266	2.289000	0.77006	0.561000	0.74099	GAG	-	HMMPfam_Cadherin,superfamily_Cadherin-like		0.567	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	protein_coding	OTTHUMT00000252434.1	C	NM_001447		150909157	-1	no_errors	NM_001447.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	150928964	C	T	150928964	3	4	18	1	0	0	0	0	1	0	0	0	5690	835	29	2	8432	2	FAT2	5	150928964	Missense_Mutation	SNP	C	TCGA-AB-2821-03B-01W-0728-08		150928964	29986296	6	228											
SYNGAP1	8831	genome.wustl.edu	37	6	33409387	33409387	+	Silent	SNP	C	C	T			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr6:33409387C>T	ENST00000418600.2	+	13	2246	c.2145C>T	c.(2143-2145)ccC>ccT	p.P715P	SYNGAP1_ENST00000428982.2_Silent_p.P656P|SYNGAP1_ENST00000293748.5_Silent_p.P715P|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	715					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GTCCACTGCCCCGGCTCCTCA	0.642																																						dbGAP											0			6											40	40	40					6																	33409387		2202	4300	6502	33517365	SO:0001819	synonymous_variant	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2145C>T	6.37:g.33409387C>T		257	0.39	1		19	57.78	26	33517365	201	37.12	121	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like	p.P700	ENST00000418600.2	37	c.2100	CCDS34434.2	6																																																																																			-	HMMSmart_SM00323,superfamily_GTPase activation domain GAP		0.642	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	C	XM_166407		33517365	1	no_errors	NM_006772.2	genbank	human	validated	54_36p	silent	SNP	0.996	T	T	33409387	C	T	33409387	2	4	18	1	0	0	0	0	0	0	0	1	15444	610	22	2		2	SYNGAP1	6	33409387	Silent	SNP	C	TCGA-AB-2821-03B-01W-0728-08		33409387	137705680	7	229											
RUNX1T1	862	genome.wustl.edu	37	8	93026825	93026825	+	Silent	SNP	G	G	A			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr8:93026825G>A	ENST00000523629.1	-	4	904	c.450C>T	c.(448-450)acC>acT	p.T150T	RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000422361.2_Silent_p.T113T|RUNX1T1_ENST00000360348.2_Silent_p.T113T|RUNX1T1_ENST00000265814.3_Silent_p.T150T|RUNX1T1_ENST00000436581.2_Silent_p.T161T|RUNX1T1_ENST00000396218.1_Silent_p.T123T|RUNX1T1_ENST00000520724.1_Silent_p.T113T|RUNX1T1_ENST00000518844.1_Silent_p.T123T|RUNX1T1_ENST00000521553.1_Silent_p.T113T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	150	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CCAGAACGAGGGTGCGAACTC	0.502																																						dbGAP											0			8											120	112	115					8																	93026825		2203	4300	6503	93096001	SO:0001819	synonymous_variant	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.450C>T	8.37:g.93026825G>A		184	0	0		1	0	0	93096001	348	33.46	176	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2	p.T150	ENST00000523629.1	37	c.450	CCDS6256.1	8																																																																																			-	HMMPfam_TAFH,HMMSmart_SM00549		0.502	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93096001	-1	no_errors	NM_175634.2	genbank	human	reviewed	54_36p	silent	SNP	0.845	A	A	93026825	G	A	93026825	2	1	18	1	0	0	0	0	0	0	0	1	13747	1219	43	2		2	RUNX1T1	8	93026825	Silent	SNP	G	TCGA-AB-2821-03B-01W-0728-08		93026825	53337197	8	230											
C10orf28	27291	genome.wustl.edu	37	10	99968695	99968695	+	Missense_Mutation	SNP	G	G	A	rs573075515		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr10:99968695G>A	ENST00000298999.3	+	5	1127	c.824G>A	c.(823-825)gGt>gAt	p.G275D	R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.G275D	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	275							nucleotide binding (GO:0000166)										AGTCCAGATGGTGTCTTTGAT	0.398													G|||	1	0.000199681	0	0	5008	,	,		22596	0		0	False		,,,				2504	0.001					dbGAP											0			10											110	104	106					10																	99968695		2203	4300	6503	99958685	SO:0001583	missense	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.824G>A	10.37:g.99968695G>A	ENSP00000298999:p.Gly275Asp	110	0	0		15	37.5	9	99958685	158	32.2	76	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.G275D	ENST00000298999.3	37	c.824	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.698394	0.00725	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.06068	3.35;3.35	5.56	-3.32	0.04973	.	1.088930	0.06964	N	0.816800	T	0.05456	0.0144	L	0.46741	1.465	0.09310	N	0.999996	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.006	T	0.45644	-0.9247	9	.	.	.	-0.0095	3.5728	0.07923	0.3642:0.0:0.2409:0.3949	.	275;275	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	D	275	ENSP00000359616:G275D;ENSP00000298999:G275D	.	G	+	2	0	C10orf28	99958685	0.000000	0.05858	0.012000	0.15200	0.093000	0.18481	-0.148000	0.10219	-0.369000	0.08028	-0.136000	0.14681	GGT	-	NULL		0.398	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C10orf28	protein_coding	OTTHUMT00000049764.1	G	NM_014472		99958685	1	no_errors	NM_014472.4	genbank	human	validated	54_36p	missense	SNP	0.015	A	A	99968695	G	A	99968695	3	1	18	1	0	0	0	0	1	0	0	0	1601	1261	44	2	826	2	C10orf28	10	99968695	Missense_Mutation	SNP	G	TCGA-AB-2821-03B-01W-0728-08		99968695	35566052	9	231											
OR8H2	390151	genome.wustl.edu	37	11	55873034	55873034	+	Silent	SNP	C	C	T			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr11:55873034C>T	ENST00000313503.1	+	1	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACGACTCAAACGTAATTCATC	0.428										HNSCC(53;0.14)																												dbGAP											0			11											268	242	251					11																	55873034		2201	4296	6497	55629610	SO:0001819	synonymous_variant	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"GPCR / Class A : Olfactory receptors"	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.516C>T	11.37:g.55873034C>T		39	0	0					55629610	184	35.89	103	Q6IFC1	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.N172	ENST00000313503.1	37	c.516	CCDS31518.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	protein_coding	OTTHUMT00000391540.1	C	NM_001005200		55629610	1	no_errors	NM_001005200.1	genbank	human	provisional	54_36p	silent	SNP	0.025	T	T	55873034	C	T	55873034	2	4	18	1	0	0	0	0	0	0	0	1	11238	535	19	1		1	OR8H2	11	55873034	Silent	SNP	C	TCGA-AB-2821-03B-01W-0728-08		55873034	79133482	10	232											
NTRK3	4916	genome.wustl.edu	37	15	88472471	88472471	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr15:88472471A>G	ENST00000360948.2	-	16	2245	c.2084T>C	c.(2083-2085)aTt>aCt	p.I695T	NTRK3_ENST00000557856.1_Missense_Mutation_p.I687T|NTRK3_ENST00000542733.2_Missense_Mutation_p.I597T|NTRK3_ENST00000355254.2_Missense_Mutation_p.I695T|NTRK3_ENST00000558676.1_Missense_Mutation_p.I687T|NTRK3_ENST00000394480.2_Missense_Mutation_p.I695T|NTRK3_ENST00000357724.2_Missense_Mutation_p.I687T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	695	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAGTCCCCAATCTTCACTAG	0.562			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0			15											110	102	105					15																	88472471		2201	4299	6500	86273475	SO:0001583	missense	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2084T>C	15.37:g.88472471A>G	ENSP00000354207:p.Ile695Thr	128	0	0					86273475	163	35.38	92	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_LRR_1,PatternScan_RECEPTOR_TYR_KIN_II,HMMSmart_SM00220,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin,superfamily_L domain-like	p.I695T	ENST00000360948.2	37	c.2084	CCDS32322.1	15	.	.	.	.	.	.	.	.	.	.	A	22.3	4.265186	0.80358	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733	D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06	5.16	5.16	0.70880	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	H	0.98525	4.255	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.998;0.996;0.998	D;D;D;D;D	0.87578	0.998;0.994;0.991;0.99;0.991	D	0.99004	1.0812	10	0.87932	D	0	.	14.1992	0.65690	1.0:0.0:0.0:0.0	.	597;687;687;695;695	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	T	695;695;687;695;597	ENSP00000377990:I695T;ENSP00000354207:I695T;ENSP00000350356:I687T;ENSP00000347397:I695T;ENSP00000437773:I597T	ENSP00000347397:I695T	I	-	2	0	NTRK3	86273475	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.118000	0.94355	1.952000	0.56665	0.533000	0.62120	ATT	-	HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)		0.562	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	protein_coding		A			86273475	-1	no_errors	NM_001012338.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	88472471	A	G	88472471	3	3	18	1	0	0	0	0	1	0	0	0	10708	101	4	3	451	3	NTRK3	15	88472471	Missense_Mutation	SNP	A	TCGA-AB-2821-03B-01W-0728-08		88472471	14058921	11	233											
IDH2	3418	genome.wustl.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					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.R172K(116)|p.R172M(21)|p.R172N(1)		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)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	15											85	81	82					15																	90631838		2200	4298	6498	88432842	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.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys	40	0	0		169	11.05	21	88432842	144	11.11	18	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R172K	ENST00000330062.3	37	c.515	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432842	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	90631838	C	T	90631838	3	4	18	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-AB-2821-03B-01W-0728-08	2159367	90631838	11899554	12	234											
ASXL1	171023	genome.wustl.edu	37	20	31022712	31022712	+	Nonsense_Mutation	SNP	C	C	T	rs387907078		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr20:31022712C>T	ENST00000375687.4	+	13	2621	c.2197C>T	c.(2197-2199)Cag>Tag	p.Q733*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q728*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	733					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCCTACTACAGAGGGCTAC	0.577			"F, N, Mis"		"MDS, CMML"																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											50	50	50					20																	31022712		2203	4300	6503	30486373	SO:0001587	stop_gained	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2197C>T	20.37:g.31022712C>T	ENSP00000364839:p.Gln733*	8	0	0		47	42.68	35	30486373	105	28.95	44	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	NULL	p.Q733*	ENST00000375687.4	37	c.2197	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	38	6.994763	0.97990	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.22	4.26	0.50523	.	0.879151	0.10075	N	0.719255	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.0256	8.2034	0.31438	0.3038:0.5382:0.158:0.0	.	.	.	.	X	733;733;733;654;728	.	ENSP00000305119:Q728X	Q	+	1	0	ASXL1	30486373	0.042000	0.20092	0.009000	0.14445	0.690000	0.40134	2.399000	0.44495	1.523000	0.49018	0.655000	0.94253	CAG	-	NULL		0.577	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	C	NM_015338		30486373	1	no_errors	NM_015338.4	genbank	human	reviewed	54_36p	nonsense	SNP	0.002	T	T	31022712	C	T	31022712	4	4	18	1	0	0	0	0	0	1	0	0	1066	479	17	2	2253	2	ASXL1	20	31022712	Nonsense_Mutation	SNP	C	TCGA-AB-2821-03B-01W-0728-08		31022712	32002808	13	235											
RUNX1	861	genome.wustl.edu	37	21	36252994	36252995	+	Frame_Shift_Ins	INS	-	-	CC	rs373498347		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	-	-	-	CC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr21:36252994_36252995insCC	ENST00000344691.4	-	2	1863_1864	c.286_287insGG	c.(286-288)gatfs	p.D96fs	RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.D123fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.D123fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.D96fs|RUNX1_ENST00000358356.5_Frame_Shift_Ins_p.D96fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.D111fs|RUNX1_ENST00000486278.2_Frame_Shift_Ins_p.D99fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	96	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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)			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						ATCTGGAACATCCCCTAGGGCC	0.46			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	0			21	GRCh37	CM086911	RUNX1	M																																				35174865	SO:0001589	frameshift_variant	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.285_286dupGG	21.37:g.36252997_36252998dupCC	ENSP00000340690:p.Asp96fs	35	0	0		144	33.94	74	35174864	68	29.9	29	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.D123fs	ENST00000344691.4	37	c.368_367	CCDS42922.1	21																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.46	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	-			35174865	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.999:1.000	CC	CC	36252995	-	CC	36252994	7	5	18	1	0	1	1	0	0	0	0	0	13746	1435	50	0	1127	0	RUNX1	21	36252994	Frame_Shift_Ins	INS	-	TCGA-AB-2821-03B-01W-0728-08		36252994	11876901	14	236											
U2AF1	7307	genome.wustl.edu	37	21	44514777	44514777	+	Missense_Mutation	SNP	T	T	G	rs371246226		TCGA-AB-2821-03B-01W-0728-08	TCGA-AB-2821-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56d41ca3-78f9-4a0d-801c-1ecf4f1be249	e031e4fa-53fd-4e94-8459-7effb8460789	g.chr21:44514777T>G	ENST00000291552.4	-	6	562	c.470A>C	c.(469-471)cAg>cCg	p.Q157P	U2AF1_ENST00000459639.1_Missense_Mutation_p.Q84P|U2AF1_ENST00000398137.1_Missense_Mutation_p.Q84P|U2AF1_ENST00000380276.2_Missense_Mutation_p.Q157P|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	157					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q157P(11)|p.Q157R(5)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						CATCTCATACTGACGGCAGCA	0.552			Mis		"CLL, MDS"																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	16	Substitution - Missense(16)	haematopoietic_and_lymphoid_tissue(16)	21											83	61	68					21																	44514777		2203	4300	6503	43387846	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.470A>C	21.37:g.44514777T>G	ENSP00000291552:p.Gln157Pro	22	0	0		35	57.83	48	43387846	69	43.55	54	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.Q157P	ENST00000291552.4	37	c.470	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	T	25.1	4.601724	0.87055	.	.	ENSG00000160201	ENST00000459639;ENST00000380276;ENST00000291552;ENST00000398137	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.01	5.01	0.66863	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.94101	3.495	0.80722	D	1	B;P	0.40066	0.413;0.701	P;P	0.53912	0.531;0.737	T	0.77456	-0.2581	10	0.87932	D	0	-33.6694	15.0099	0.71542	0.0:0.0:0.0:1.0	.	157;157	Q01081;Q701P4	U2AF1_HUMAN;.	P	84;157;157;84	ENSP00000418705:Q84P;ENSP00000369629:Q157P;ENSP00000291552:Q157P;ENSP00000381205:Q84P	ENSP00000291552:Q157P	Q	-	2	0	U2AF1	43387846	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.190000	0.77755	2.003000	0.58678	0.533000	0.62120	CAG	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.552	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	T	NM_006758		43387846	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	44514777	T	G	44514777	3	3	18	1	0	0	0	0	1	0	0	0	16818	1580	55	5	264	5	U2AF1	21	44514777	Missense_Mutation	SNP	T	TCGA-AB-2821-03B-01W-0728-08	8261783	44514777	3615118	15	237											
UTS2	10911	genome.wustl.edu	37	1	7913480	7913480	+	5'Flank	SNP	G	G	A	rs147322701		TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr1:7913480G>A	ENST00000361696.5	-	0	0				UTS2_ENST00000377516.2_De_novo_Start_OutOfFrame|UTS2_ENST00000054668.5_Silent_p.N4N	NM_006786.3	NP_006777.1	O95399	UTS2_HUMAN	urotensin 2						muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			kidney(1)|lung(4)|urinary_tract(1)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GATGAAATACGTTGGTTTCCA	0.418																																						dbGAP											0			1						G		0,4406		0,0,2203	153	141	145		12	1	0	1	dbSNP_134	145	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	UTS2	NM_021995.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		4/140	7913480	2,13004	2203	4300	6503	7836067	SO:0001631	upstream_gene_variant	0			AF104118	CCDS90.1, CCDS91.1	1p36	2013-02-28			ENSG00000049247	ENSG00000049247		"Endogenous ligands"	12636	protein-coding gene	gene with protein product	"prepro U-II"	604097				9861051, 10499587	Standard	NM_021995		Approved	UII, U-II, UCN2, PRO1068	uc001aos.3	O95399	OTTHUMG00000001218		1.37:g.7913480G>A	Exception_encountered	162	0	0					7836067	130	38.1	80	Q5H8X7|Q6UXF6|Q9UKP7	Silent	SNP	HMMPfam_Urotensin_II,PatternScan_UROTENSIN_II	p.N4	ENST00000361696.5	37	c.12	CCDS91.1	1																																																																																			-	NULL		0.418	UTS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2	protein_coding	OTTHUMT00000003612.1	G	NM_006786		7836067	-1	no_errors	NM_021995.3	genbank	human	reviewed	54_36p	silent	SNP	0.000	A	A	7913480	G	A	7913480	1	1	19	0	1	0	0	0	0	0	0	0	17101	1136	40	1		1	UTS2	1	7913480	5'Flank	SNP	G	TCGA-AB-2822-03D-01W-0755-09		7913480	241337141	1	238											
DNMT3A	1788	genome.wustl.edu	37	2	25467208	25467208	+	Splice_Site	SNP	C	C	T			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr2:25467208C>T	ENST00000264709.3	-	15	2005		c.e15-1		DNMT3A_ENST00000380746.4_Splice_Site|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Splice_Site|DNMT3A_ENST00000321117.5_Splice_Site	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha						C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAAAAGCACCTGGAAGGAGA	0.617			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											13	16	15					2																	25467208		2200	4299	6499	25320712	SO:0001630	splice_region_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1668-1G>A	2.37:g.25467208C>T		12	0	0		7	66.67	14	25320712	10	62.96	17	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	SNP	-	e14-1	ENST00000264709.3	37	c.1668-1	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210946	0.79240	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0531	0.89356	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNMT3A	25320712	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.598000	0.82745	2.584000	0.87258	0.655000	0.94253	.	-	-		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552	Intron	25320712	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	25467208	C	T	25467208	5	4	19	1	0	0	0	0	0	0	1	0	4676	695	24	2	1107	2	DNMT3A	2	25467208	Splice_Site	SNP	C	TCGA-AB-2822-03D-01W-0755-09		25467208	217732165	2	239											
R3HDM1	23518	genome.wustl.edu	37	2	136409334	136409334	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr2:136409334G>A	ENST00000264160.4	+	17	2025	c.1655G>A	c.(1654-1656)aGt>aAt	p.S552N	R3HDM1_ENST00000329971.3_Missense_Mutation_p.S423N|R3HDM1_ENST00000409478.1_Missense_Mutation_p.S424N|R3HDM1_ENST00000409606.1_Missense_Mutation_p.S553N|R3HDM1_ENST00000410054.1_Missense_Mutation_p.S497N	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	552							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		AGCCACATGAGTCTTGCTCGC	0.448																																						dbGAP											0			2											191	175	181					2																	136409334		2203	4300	6503	136125804	SO:0001583	missense	0			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"R3H domain (binds single-stranded nucleic acids) containing"	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1655G>A	2.37:g.136409334G>A	ENSP00000264160:p.Ser552Asn	147	0.68	1		15	60.53	23	136125804	145	34.96	79	A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	HMMPfam_R3H,HMMSmart_SM00393,superfamily_R3H domain	p.S552N	ENST00000264160.4	37	c.1655	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980663	0.53827	.	.	ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606	T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56	5.68	3.84	0.44239	.	0.092388	0.85682	D	0.000000	T	0.67869	0.2939	M	0.62016	1.91	0.34926	D	0.748871	D;B;D;D	0.64830	0.994;0.287;0.993;0.993	D;B;D;D	0.70935	0.971;0.032;0.968;0.968	T	0.73652	-0.3915	10	0.28530	T	0.3	-5.3362	16.2243	0.82283	0.0:0.2487:0.7513:0.0	.	424;553;497;552	G5E9G8;E9PBB4;E9PG42;Q15032	.;.;.;R3HD1_HUMAN	N	424;552;423;497;553	ENSP00000386457:S424N;ENSP00000264160:S552N;ENSP00000331396:S423N;ENSP00000386877:S497N;ENSP00000387010:S553N	ENSP00000264160:S552N	S	+	2	0	R3HDM1	136125804	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.314000	0.51943	0.717000	0.32145	0.561000	0.74099	AGT	-	NULL		0.448	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	protein_coding	OTTHUMT00000254659.1	G	NM_015361		136125804	1	no_errors	NM_015361.2	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	136409334	G	A	136409334	3	1	19	1	0	0	0	0	1	0	0	0	12887	1029	36	2	1713	2	R3HDM1	2	136409334	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09	110942126	136409334	106790039	3	240											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	46	0	0		31	54.93	39	208821358	84	38.41	53	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	19	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09	72703779	209113113	34086260	4	241											
NCAPG	64151	genome.wustl.edu	37	4	17816953	17816953	+	Silent	SNP	C	C	T			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr4:17816953C>T	ENST00000251496.2	+	5	923	c.747C>T	c.(745-747)ctC>ctT	p.L249L		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	249					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GAGTAATGCTCCTTCAACAAG	0.313																																						dbGAP											0			4											52	53	53					4																	17816953		2203	4298	6501	17426051	SO:0001819	synonymous_variant	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"chromosome condensation protein G"	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.747C>T	4.37:g.17816953C>T		66	0	0		2	60	3	17426051	93	31.65	44	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	superfamily_ARM-type_fold	p.L249	ENST00000251496.2	37	c.747	CCDS3424.1	4																																																																																			-	superfamily_ARM-type_fold		0.313	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	protein_coding	OTTHUMT00000250375.1	C	NM_022346		17426051	1	no_errors	NM_022346.3	genbank	human	validated	54_36p	silent	SNP	0.982	T	T	17816953	C	T	17816953	2	4	19	1	0	0	0	0	0	0	0	1	10207	842	30	2		2	NCAPG	4	17816953	Silent	SNP	C	TCGA-AB-2822-03D-01W-0755-09		17816953	173337323	5	242											
TET2	54790	genome.wustl.edu	37	4	106156043	106156043	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr4:106156043delC	ENST00000540549.1	+	3	1804	c.944delC	c.(943-945)tccfs	p.S315fs	TET2_ENST00000394764.1_Frame_Shift_Del_p.S315fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.S315fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.S315fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.S336fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.S315fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.S315fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	315					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.S315fs*31(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AATACCTGTTCCTTTCAGAAA	0.448			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	4											86	82	84					4																	106156043		2203	4300	6503	106375492	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.944delC	4.37:g.106156043delC	ENSP00000442788:p.Ser315fs	191	1.55	3		28	30.95	13	106375492	240	36.46	140	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.Q317fs	ENST00000540549.1	37	c.944	CCDS47120.1	4																																																																																			-	NULL		0.448	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106375492	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	frame_shift_del	DEL	0.998	-	-	106156043	C	-	106156043	7	5	19	1	0	1	0	1	0	0	0	0	15767	855	30	0	946	0	TET2	4	106156043	Frame_Shift_Del	DEL	C	TCGA-AB-2822-03D-01W-0755-09	88339090	106156043	84998233	6	243											
AGXT2	64902	genome.wustl.edu	37	5	35037117	35037117	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr5:35037117G>T	ENST00000231420.6	-	4	616	c.416C>A	c.(415-417)aCc>aAc	p.T139N	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	139					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	GAAGAAGACGGTGCTTGTATG	0.532																																						dbGAP											0			5											111	107	108					5																	35037117		2203	4300	6503	35072874	SO:0001583	missense	0			AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"beta-alanine-pyruvate aminotransferase", "beta-ALAAT II"	612471	"alanine-glyoxylate aminotransferase 2"			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.416C>A	5.37:g.35037117G>T	ENSP00000231420:p.Thr139Asn	102	0	0					35072874	186	34.95	101	B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	HMMPfam_Aminotran_3,PatternScan_AA_TRANSFER_CLASS_3,superfamily_PyrdxlP-dep_Trfase_major	p.T139N	ENST00000231420.6	37	c.416	CCDS3908.1	5	.	.	.	.	.	.	.	.	.	.	G	0.541	-0.853481	0.02630	.	.	ENSG00000113492	ENST00000231420	T	0.18657	2.2	5.7	2.75	0.32379	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.219660	0.05567	N	0.570478	T	0.07052	0.0179	N	0.00815	-1.16	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.001	T	0.30179	-0.9987	10	0.10902	T	0.67	-18.7379	8.6427	0.33987	0.0:0.3624:0.3717:0.2659	.	47;139;139	B7Z3M3;E9PDL7;Q9BYV1	.;.;AGT2_HUMAN	N	139	ENSP00000231420:T139N	ENSP00000231420:T139N	T	-	2	0	AGXT2	35072874	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.726000	0.25984	0.730000	0.32425	0.650000	0.86243	ACC	-	HMMPfam_Aminotran_3,superfamily_PyrdxlP-dep_Trfase_major		0.532	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGXT2	protein_coding	OTTHUMT00000207574.2	G	NM_031900		35072874	-1	no_errors	NM_031900.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	T	T	35037117	G	T	35037117	3	4	19	1	0	0	0	0	1	0	0	0	405	1261	44	4	1172	4	AGXT2	5	35037117	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09		35037117	145878143	7	244											
EDIL3	10085	genome.wustl.edu	37	5	83402506	83402506	+	Silent	SNP	C	C	T			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr5:83402506C>T	ENST00000296591.5	-	6	1030	c.612G>A	c.(610-612)gcG>gcA	p.A204A	EDIL3_ENST00000380138.3_Silent_p.A194A	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	204	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CAGCTGTCCACGCATTTATAA	0.418																																						dbGAP											0			5											170	162	165					5																	83402506		2203	4300	6503	83438262	SO:0001819	synonymous_variant	0			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.612G>A	5.37:g.83402506C>T		64	0	0					83438262	193	16.74	39	B2R763|O43855|Q5D094|Q8N610	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Galactose-binding domain-like,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.A204	ENST00000296591.5	37	c.612	CCDS4062.1	5																																																																																			-	HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,superfamily_Galactose-binding domain-like		0.418	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	protein_coding	OTTHUMT00000239258.1	C	NM_005711		83438262	-1	no_errors	NM_005711.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	83402506	C	T	83402506	2	4	19	1	0	0	0	0	0	0	0	1	4915	523	19	1		1	EDIL3	5	83402506	Silent	SNP	C	TCGA-AB-2822-03D-01W-0755-09	48365389	83402506	97512754	8	245											
PCDHB6	56130	genome.wustl.edu	37	5	140530312	140530312	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr5:140530312T>A	ENST00000231136.1	+	1	474	c.474T>A	c.(472-474)gaT>gaA	p.D158E	PCDHB6_ENST00000543635.1_Missense_Mutation_p.D22E	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	158	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCACACGATTTAGACACCG	0.498																																						dbGAP											0			5											145	155	152					5																	140530312		2203	4300	6503	140510496	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"Cadherins / Protocadherins : Clustered"	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.474T>A	5.37:g.140530312T>A	ENSP00000231136:p.Asp158Glu	51	0	0					140510496	82	43.54	64	B2R8R9	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.D158E	ENST00000231136.1	37	c.474	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	T	14.05	2.420183	0.42918	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.80214	-1.35;1.02	4.85	2.44	0.29823	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93426	0.7903	H	0.99368	4.535	0.27296	N	0.957717	D	0.89917	1.0	D	0.97110	1.0	D	0.85036	0.0920	9	0.87932	D	0	.	8.584	0.33646	0.0:0.2391:0.0:0.7609	.	158	Q9Y5E3	PCDB6_HUMAN	E	22;158	ENSP00000438466:D22E;ENSP00000231136:D158E	ENSP00000231136:D158E	D	+	3	2	PCDHB6	140510496	0.057000	0.20700	0.991000	0.47740	0.194000	0.23727	0.343000	0.19944	0.302000	0.22762	0.459000	0.35465	GAT	-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.498	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	T	NM_018939		140510496	1	no_errors	NM_018939.2	genbank	human	reviewed	54_36p	missense	SNP	0.982	A	A	140530312	T	A	140530312	3	1	19	1	0	0	0	0	1	0	0	0	11546	1490	52	5	476	5	PCDHB6	5	140530312	Missense_Mutation	SNP	T	TCGA-AB-2822-03D-01W-0755-09	57127806	140530312	40384948	9	246											
GCM2	9247	genome.wustl.edu	37	6	10877388	10877388	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr6:10877388G>A	ENST00000379491.4	-	2	475	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	110			R -> W (in FIH; abolishes DNA binding ability). {ECO:0000269|PubMed:20190276, ECO:0000269|Ref.3}.		cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTTTCAGCCGTGCCTTGTCG	0.562																																						dbGAP											0			6											83	78	80					6																	10877388		2203	4300	6503	10985374	SO:0001583	missense	0			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"glial cells missing (Drosophila) homolog b"	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.328C>T	6.37:g.10877388G>A	ENSP00000368805:p.Arg110Trp	83	0	0					10985374	88	40.67	61	D3GDV6|Q5THN5	Missense_Mutation	SNP	HMMPfam_GCM,superfamily_GCM_motif	p.R110W	ENST00000379491.4	37	c.328	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566565	0.65651	.	.	ENSG00000124827	ENST00000379491	T	0.80994	-1.44	5.69	-5.0	0.03001	.	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88860	0.3325	10	0.87932	D	0	-21.0508	20.752	0.99720	0.0:0.0:0.2563:0.7437	.	110	O75603	GCM2_HUMAN	W	110	ENSP00000368805:R110W	ENSP00000368805:R110W	R	-	1	2	GCM2	10985374	0.973000	0.33851	0.001000	0.08648	0.840000	0.47671	1.664000	0.37439	-0.950000	0.03659	-0.175000	0.13238	CGG	-	HMMPfam_GCM,superfamily_GCM_motif		0.562	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	protein_coding	OTTHUMT00000039844.1	G			10985374	-1	no_errors	NM_004752.3	genbank	human	reviewed	54_36p	missense	SNP	0.850	A	A	10877388	G	A	10877388	3	1	19	1	0	0	0	0	1	0	0	0	6298	1144	40	1	1208	1	GCM2	6	10877388	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09		10877388	160237679	10	247											
ITPR3	3710	genome.wustl.edu	37	6	33657121	33657121	+	Silent	SNP	G	G	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr6:33657121G>A	ENST00000374316.5	+	51	7861	c.6801G>A	c.(6799-6801)gcG>gcA	p.A2267A	ITPR3_ENST00000605930.1_Silent_p.A2267A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2267					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCATCGTGGCGCTCATCCTGC	0.587																																						dbGAP											0			6											121	102	109					6																	33657121		2203	4300	6503	33765099	SO:0001819	synonymous_variant	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.6801G>A	6.37:g.33657121G>A		110	0	0		4	42.86	3	33765099	75	35.9	42	Q14649|Q5TAQ2	Silent	SNP	HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR,HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_MIR,superfamily_SSF100909	p.A2267	ENST00000374316.5	37	c.6801	CCDS4783.1	6																																																																																			-	NULL		0.587	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	protein_coding	OTTHUMT00000040204.2	G	NM_002224		33765099	1	no_errors	NM_002224.2	genbank	human	validated	54_36p	silent	SNP	0.185	A	A	33657121	G	A	33657121	2	1	19	1	0	0	0	0	0	0	0	1	7922	1074	38	1		1	ITPR3	6	33657121	Silent	SNP	G	TCGA-AB-2822-03D-01W-0755-09	22779733	33657121	137457946	11	248											
TMEM200A	114801	genome.wustl.edu	37	6	130762082	130762082	+	Missense_Mutation	SNP	C	C	T	rs149308469	byFrequency	TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr6:130762082C>T	ENST00000296978.3	+	3	1386	c.515C>T	c.(514-516)aCg>aTg	p.T172M	TMEM200A_ENST00000545622.1_Missense_Mutation_p.T172M|TMEM200A_ENST00000392429.1_Missense_Mutation_p.T172M	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	172						integral component of membrane (GO:0016021)		p.T172K(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACATTCACACGCTAAGAATC	0.413																																						dbGAP											2	Substitution - Missense(2)	lung(2)	6						C	MET/THR	0,4406		0,0,2203	101	92	95		515	4.7	0.8	6	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM200A	NM_052913.2	81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	172/492	130762082	2,13004	2203	4300	6503	130803775	SO:0001583	missense	0			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"KIAA1913"	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.515C>T	6.37:g.130762082C>T	ENSP00000296978:p.Thr172Met	126	0	0		1	0	0	130803775	363	17.05	75	Q96PX5	Missense_Mutation	SNP	HMMPfam_DUF2371	p.T172M	ENST00000296978.3	37	c.515	CCDS5140.1	6	.	.	.	.	.	.	.	.	.	.	C	14.49	2.552143	0.45487	0.0	2.33E-4	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.6	4.73	0.59995	.	0.272658	0.38720	N	0.001594	T	0.41373	0.1156	L	0.47716	1.5	0.37677	D	0.923347	D	0.67145	0.996	P	0.50791	0.65	T	0.50180	-0.8858	9	0.72032	D	0.01	.	10.1155	0.42587	0.0:0.7916:0.1365:0.0718	.	172	Q86VY9	T200A_HUMAN	M	172	.	ENSP00000296978:T172M	T	+	2	0	TMEM200A	130803775	0.997000	0.39634	0.768000	0.31515	0.838000	0.47535	2.950000	0.49081	1.369000	0.46134	-0.140000	0.14226	ACG	-	NULL		0.413	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200A	protein_coding	OTTHUMT00000042201.1	C	NM_052913		130803775	1	no_errors	NM_052913.2	genbank	human	provisional	54_36p	missense	SNP	0.961	T	T	130762082	C	T	130762082	3	4	19	1	0	0	0	0	1	0	0	0	16120	536	19	1	517	1	TMEM200A	6	130762082	Missense_Mutation	SNP	C	TCGA-AB-2822-03D-01W-0755-09	97104961	130762082	40352985	12	249											
WRN	7486	genome.wustl.edu	37	8	31004933	31004933	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr8:31004933G>A	ENST00000298139.5	+	30	3762	c.3513G>A	c.(3511-3513)atG>atA	p.M1171I		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1171	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CCAATAAAATGGATGTTCCCC	0.343			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	dbGAP	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"L, E, M, O"	0			8											102	102	102					8																	31004933		2203	4300	6503	31124475	SO:0001583	missense	0	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"Werner syndrome"			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3513G>A	8.37:g.31004933G>A	ENSP00000298139:p.Met1171Ile	47	0	0		45	38.36	28	31124475	294	28.61	119	A1KYY9	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HRDC,HMMSmart_SM00341,HMMPfam_3_5_exonuc,HMMSmart_SM00474,HMMPfam_DEAD,superfamily_Ribonuclease H-like,HMMSmart_SM00487,HMMPfam_RQC,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.M1171I	ENST00000298139.5	37	c.3513	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	G	6.512	0.462650	0.12402	.	.	ENSG00000165392	ENST00000298139	T	0.42131	0.98	5.17	4.29	0.51040	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.246154	0.41500	D	0.000872	T	0.30572	0.0769	L	0.38175	1.15	0.31511	N	0.66359	B;B	0.19817	0.008;0.039	B;B	0.25506	0.011;0.061	T	0.29243	-1.0018	10	0.19590	T	0.45	-4.628	8.5578	0.33492	0.0775:0.0:0.7687:0.1538	.	581;1171	Q59F09;Q14191	.;WRN_HUMAN	I	1171	ENSP00000298139:M1171I	ENSP00000298139:M1171I	M	+	3	0	WRN	31124475	0.999000	0.42202	0.566000	0.28421	0.421000	0.31385	1.489000	0.35562	1.286000	0.44565	0.655000	0.94253	ATG	-	HMMPfam_HRDC,HMMSmart_SM00341		0.343	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	protein_coding	OTTHUMT00000376248.1	G			31124475	1	no_errors	NM_000553.4	genbank	human	reviewed	54_36p	missense	SNP	0.995	A	A	31004933	G	A	31004933	3	1	19	1	0	0	0	0	1	0	0	0	17399	1348	47	2	3627	2	WRN	8	31004933	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09		31004933	115359089	13	250											
GRID1	2894	genome.wustl.edu	37	10	87379759	87379759	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr10:87379759T>A	ENST00000327946.7	-	14	2310	c.2225A>T	c.(2224-2226)gAt>gTt	p.D742V	GRID1_ENST00000536331.1_Missense_Mutation_p.D313V	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	742					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CACGGCCACATCCCACAGGAA	0.552										Multiple Myeloma(13;0.14)																												dbGAP											0			10											125	90	101					10																	87379759		2203	4300	6503	87369739	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2225A>T	10.37:g.87379759T>A	ENSP00000330148:p.Asp742Val	98	0	0		2	0	0	87369739	98	37.18	58	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,PatternScan_ALDEHYDE_DEHYDR_GLU,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II	p.D742V	ENST00000327946.7	37	c.2225	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635353	0.87760	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.19105	2.17;2.17	5.28	5.28	0.74379	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66329	-0.5951	10	0.87932	D	0	.	14.3972	0.67020	0.0:0.0:0.0:1.0	.	742	Q9ULK0	GRID1_HUMAN	V	742;313	ENSP00000330148:D742V;ENSP00000444455:D313V	ENSP00000330148:D742V	D	-	2	0	GRID1	87369739	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.004000	0.88535	1.987000	0.57996	0.459000	0.35465	GAT	-	HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II		0.552	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	protein_coding	OTTHUMT00000049148.3	T	XM_043613		87369739	-1	no_errors	NM_017551.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	87379759	T	A	87379759	3	1	19	1	0	0	0	0	1	0	0	0	6771	1435	50	5	816	5	GRID1	10	87379759	Missense_Mutation	SNP	T	TCGA-AB-2822-03D-01W-0755-09		87379759	48154988	14	251											
LRRC43	254050	genome.wustl.edu	37	12	122677521	122677521	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr12:122677521G>A	ENST00000339777.4	+	7	1347	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	LRRC43_ENST00000425921.1_Missense_Mutation_p.R255H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	440										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TTGAGGCTGCGTATAGATCCC	0.597																																						dbGAP											0			12											44	48	47					12																	122677521		2007	4171	6178	121243474	SO:0001583	missense	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1319G>A	12.37:g.122677521G>A	ENSP00000344233:p.Arg440His	129	0.77	1					121243474	42	36.36	24	Q6ZVT9	Missense_Mutation	SNP	superfamily_Outer arm dynein light chain 1	p.R440H	ENST00000339777.4	37	c.1319	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941357	0.53079	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56444	0.46;0.87	4.68	-3.94	0.04130	.	1.350510	0.04837	N	0.439821	T	0.38321	0.1036	L	0.45581	1.43	0.09310	N	1	B	0.17465	0.022	B	0.14578	0.011	T	0.26224	-1.0109	10	0.42905	T	0.14	-5.3269	0.524	0.00617	0.2624:0.127:0.2239:0.3867	.	440	Q8N309	LRC43_HUMAN	H	440;311;255	ENSP00000344233:R440H;ENSP00000416628:R255H	ENSP00000289014:R311H	R	+	2	0	LRRC43	121243474	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	-1.719000	0.01873	-0.369000	0.08028	0.561000	0.74099	CGT	-	NULL		0.597	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	protein_coding	OTTHUMT00000401589.1	G	NM_152759		121243474	1	no_errors	NM_001098519.1	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	122677521	G	A	122677521	3	1	19	1	0	0	0	0	1	0	0	0	9001	1145	40	1	1345	1	LRRC43	12	122677521	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09		122677521	11174374	15	252											
LEO1	123169	genome.wustl.edu	37	15	52230383	52230383	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr15:52230383G>C	ENST00000299601.5	-	12	2031	c.1971C>G	c.(1969-1971)atC>atG	p.I657M	LEO1_ENST00000315141.5_Missense_Mutation_p.I597M	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	657					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTTCATCGCTGATCACATACT	0.284																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	dbGAP											0			15											180	148	159					15																	52230383		2194	4293	6487	50017675	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1971C>G	15.37:g.52230383G>C	ENSP00000299601:p.Ile657Met	337	0.59	2		24	45.45	20	50017675	160	39.62	105	Q96N99	Missense_Mutation	SNP	HMMPfam_Leo1	p.I657M	ENST00000299601.5	37	c.1971	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	.	16.53	3.150161	0.57151	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.19	1.09	0.20402	.	0.000000	0.85682	D	0.000000	T	0.56717	0.2004	L	0.39898	1.24	0.48185	D	0.999604	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	T	0.54476	-0.8288	9	0.66056	D	0.02	.	5.6741	0.17739	0.2828:0.0:0.589:0.1282	.	597;657	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	M	657;635;597	.	ENSP00000299601:I657M	I	-	3	3	LEO1	50017675	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.697000	0.37784	0.275000	0.22094	0.650000	0.86243	ATC	-	NULL		0.284	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	protein_coding	OTTHUMT00000254791.2	G	NM_138792		50017675	-1	no_errors	NM_138792.2	genbank	human	provisional	54_36p	missense	SNP	1.000	C	C	52230383	G	C	52230383	3	2	19	1	0	0	0	0	1	0	0	0	8726	1280	45	4	33	4	LEO1	15	52230383	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09		52230383	50301009	16	253											
SYT17	51760	genome.wustl.edu	37	16	19236085	19236085	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr16:19236085G>C	ENST00000355377.2	+	7	1551	c.1153G>C	c.(1153-1155)Gat>Cat	p.D385H	SYT17_ENST00000568433.1_Missense_Mutation_p.D79H|SYT17_ENST00000562034.1_Missense_Mutation_p.D324H|SYT17_ENST00000562711.2_Missense_Mutation_p.D381H|SYT17_ENST00000568115.1_Missense_Mutation_p.D324H	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	385	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGGCACAATTGATCCTTTCTA	0.433																																						dbGAP											0			16											132	128	129					16																	19236085		2197	4300	6497	19143586	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"Synaptotagmins"	24119	protein-coding gene	gene with protein product	"B/K protein"					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.1153G>C	16.37:g.19236085G>C	ENSP00000347538:p.Asp385His	363	0	0					19143586	291	35.25	159	O43330|Q9NZ18	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB	p.D385H	ENST00000355377.2	37	c.1153	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782149	0.31502	.	.	ENSG00000103528	ENST00000355377	T	0.69435	-0.4	5.29	5.29	0.74685	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000006	T	0.77705	0.4170	L	0.41961	1.31	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.79784	0.989;0.993	T	0.79759	-0.1668	10	0.87932	D	0	.	18.9333	0.92576	0.0:0.0:1.0:0.0	.	385;324	Q9BSW7;B4DJB2	SYT17_HUMAN;.	H	385	ENSP00000347538:D385H	ENSP00000347538:D385H	D	+	1	0	SYT17	19143586	1.000000	0.71417	0.979000	0.43373	0.950000	0.60333	6.542000	0.73869	2.472000	0.83506	0.561000	0.74099	GAT	-	HMMPfam_C2,HMMSmart_C2,superfamily_C2_CaLB		0.433	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	protein_coding	OTTHUMT00000254286.2	G	NM_016524		19143586	1	no_errors	NM_016524.2	genbank	human	validated	54_36p	missense	SNP	0.989	C	C	19236085	G	C	19236085	3	2	19	1	0	0	0	0	1	0	0	0	15470	1290	45	4	1179	4	SYT17	16	19236085	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09		19236085	71118668	17	254											
TMEM231	79583	genome.wustl.edu	37	16	75576547	75576547	+	Missense_Mutation	SNP	T	T	C	rs374279951		TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr16:75576547T>C	ENST00000258173.6	-	5	693	c.617A>G	c.(616-618)tAt>tGt	p.Y206C	RP11-77K12.7_ENST00000460606.1_Missense_Mutation_p.M38V|TMEM231_ENST00000569294.1_5'UTR|TMEM231_ENST00000568377.1_Missense_Mutation_p.Y235C|TMEM231_ENST00000565067.1_Missense_Mutation_p.Y158C|RP11-77K12.8_ENST00000564489.1_RNA	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231	206					cilium assembly (GO:0042384)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCGTAGTCATAGGCAAAGGG	0.552																																						dbGAP											0			16						T	CYS/TYR,CYS/TYR,CYS/TYR	1,4009		0,1,2004	106	105	106		704,617,269	-7.5	0	16		106	0,8346		0,0,4173	no	missense,missense,missense	TMEM231	NM_001077416.1,NM_001077418.1,NM_001077419.1	194,194,194	0,1,6177	CC,CT,TT		0.0,0.0249,0.0081	benign,benign,benign	235/346,206/317,90/201	75576547	1,12355	2005	4173	6178	74134048	SO:0001583	missense	0				CCDS45530.1	16q23.1	2014-01-28			ENSG00000205084	ENSG00000205084			37234	protein-coding gene	gene with protein product		614949				23012439	Standard	NM_001077416		Approved	FLJ22167, ALYE870, PRO1886, JBTS20, MKS11	uc002fek.4	Q9H6L2		ENST00000258173.6:c.617A>G	16.37:g.75576547T>C	ENSP00000258173:p.Tyr206Cys	127	0	0		2	50	2	74134048	51	35.8	29	A0JLU1|A6NDZ6|B3KU85|G5E9E3|Q6P450|Q6UWW5	Missense_Mutation	SNP	HMMPfam_NAcGluc_Transf	p.Y235C	ENST00000258173.6	37	c.704	CCDS45530.1	16	.	.	.	.	.	.	.	.	.	.	T	8.300	0.819780	0.16678	2.49E-4	0.0	ENSG00000205084	ENST00000258173;ENST00000398114	T;T	0.62941	-0.01;-0.01	4.33	-7.47	0.01365	.	0.566652	0.18405	N	0.142240	T	0.31389	0.0795	N	0.08118	0	0.09310	N	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.08055	0.003;0.002;0.002	T	0.07578	-1.0765	10	0.51188	T	0.08	26.6252	8.0951	0.30824	0.0:0.6585:0.1073:0.2342	.	235;206;235	B3KU85;Q9H6L2;G5E9E3	.;TM231_HUMAN;.	C	206;235	ENSP00000258173:Y206C;ENSP00000381184:Y235C	ENSP00000258173:Y206C	Y	-	2	0	TMEM231	74134048	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-0.190000	0.09615	-1.328000	0.02261	0.383000	0.25322	TAT	-	HMMPfam_NAcGluc_Transf		0.552	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FLJ22167	protein_coding	OTTHUMT00000435481.2	T	NM_001077416		74134048	-1	no_errors	NM_001077416.1	genbank	human	validated	54_36p	missense	SNP	0.061	C	C	75576547	T	C	75576547	3	2	19	1	0	0	0	0	1	0	0	0	16146	1406	49	3	345	3	TMEM231	16	75576547	Missense_Mutation	SNP	T	TCGA-AB-2822-03D-01W-0755-09	56340462	75576547	14778206	18	255											
WSCD1	23302	genome.wustl.edu	37	17	6023811	6023811	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr17:6023811G>A	ENST00000574946.1	+	9	1948	c.1558G>A	c.(1558-1560)Gtg>Atg	p.V520M	WSCD1_ENST00000574232.1_Missense_Mutation_p.V520M|WSCD1_ENST00000539421.1_Missense_Mutation_p.V520M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V520M|WSCD1_ENST00000573634.1_Missense_Mutation_p.V404M			Q658N2	WSCD1_HUMAN	WSC domain containing 1	520						integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCTGCTCTGCGTGGAGAACAA	0.642																																						dbGAP											0			17											66	64	65					17																	6023811		2203	4300	6503	5964535	SO:0001583	missense	0				CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.1558G>A	17.37:g.6023811G>A	ENSP00000460825:p.Val520Met	36	0	0					5964535	87	14.71	15	A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	HMMPfam_WSC,HMMSmart_WSC,superfamily_SSF52540	p.V520M	ENST00000574946.1	37	c.1558	CCDS32538.1	17	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959768	0.92791	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.36157	1.27;1.27	5.54	5.54	0.83059	.	0.056568	0.64402	D	0.000001	T	0.61362	0.2341	M	0.76170	2.325	0.50313	D	0.999867	D	0.89917	1.0	D	0.73380	0.98	T	0.64558	-0.6379	10	0.87932	D	0	-31.5714	16.9738	0.86308	0.0:0.0:1.0:0.0	.	520	Q658N2	WSCD1_HUMAN	M	520	ENSP00000323087:V520M;ENSP00000446032:V520M	ENSP00000323087:V520M	V	+	1	0	WSCD1	5964535	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.438000	0.97539	2.606000	0.88127	0.655000	0.94253	GTG	-	superfamily_SSF52540		0.642	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WSCD1	protein_coding	OTTHUMT00000438965.4	G	NM_015253		5964535	1	no_errors	NM_015253.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	6023811	G	A	6023811	3	1	19	1	0	0	0	0	1	0	0	0	17403	1145	40	1	1588	1	WSCD1	17	6023811	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09		6023811	75171399	19	256											
MYH4	4622	genome.wustl.edu	37	17	10360864	10360864	+	Silent	SNP	G	G	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chr17:10360864G>A	ENST00000255381.2	-	16	1880	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	590	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGATGTTGTAGTCCACGGTGC	0.532																																						dbGAP											0			17											122	121	121					17																	10360864		2203	4300	6503	10301589	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1770C>T	17.37:g.10360864G>A		58	0	0					10301589	91	34.75	49		Silent	SNP	HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540	p.D590	ENST00000255381.2	37	c.1770	CCDS11154.1	17																																																																																			-	HMMPfam_Myosin_head,HMMSmart_MYSc,superfamily_SSF52540		0.532	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533		10301589	-1	no_errors	NM_017533.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	10360864	G	A	10360864	2	1	19	1	0	0	0	0	0	0	0	1	10037	1020	36	2		2	MYH4	17	10360864	Silent	SNP	G	TCGA-AB-2822-03D-01W-0755-09	4337053	10360864	70834346	20	257											
SMC1A	8243	genome.wustl.edu	37	X	53436078	53436078	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chrX:53436078G>C	ENST00000322213.4	-	9	1587	c.1460C>G	c.(1459-1461)gCc>gGc	p.A487G	SMC1A_ENST00000375340.6_Missense_Mutation_p.A253G	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	487					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GTCGATGCGGGCATCCCCTAG	0.567																																						dbGAP											0			X											95	73	80					X																	53436078		2203	4300	6503	53452803	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1460C>G	X.37:g.53436078G>C	ENSP00000323421:p.Ala487Gly	61	1.61	1		4	88.57	31	53452803	22	75.56	68	O14995|Q16351|Q2M228	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540	p.A487G	ENST00000322213.4	37	c.1460	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.219311	0.95139	.	.	ENSG00000072501	ENST00000322213;ENST00000375340	D;D	0.86769	-2.17;-2.17	5.28	5.28	0.74379	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.94499	0.8229	M	0.89478	3.035	0.80722	D	1	D;D;D	0.89917	0.992;1.0;1.0	D;D;D	0.91635	0.983;0.998;0.999	D	0.95423	0.8509	10	0.87932	D	0	.	16.9938	0.86361	0.0:0.0:1.0:0.0	.	253;465;487	B7Z709;Q6MZR8;Q14683	.;.;SMC1A_HUMAN	G	487;253	ENSP00000323421:A487G;ENSP00000364489:A253G	ENSP00000323421:A487G	A	-	2	0	SMC1A	53452803	1.000000	0.71417	0.999000	0.59377	0.791000	0.44710	9.791000	0.99081	2.362000	0.80069	0.600000	0.82982	GCC	-	HMMPfam_SMC_N,superfamily_SMC_hinge,superfamily_SSF52540		0.567	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	G	NM_006306		53452803	-1	no_errors	NM_006306.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	53436078	G	C	53436078	3	2	19	1	0	0	0	0	1	0	0	0	14781	1203	42	4	2309	4	SMC1A	23	53436078	Missense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09		53436078	101834482	21	258											
MED12	9968	genome.wustl.edu	37	X	70356168	70356168	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2822-03D-01W-0755-09	TCGA-AB-2822-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	68b67026-2f30-4839-8579-7a07341b8976	55451b4d-c9af-477d-acdd-d6749bf27f2f	g.chrX:70356168G>A	ENST00000374080.3	+	37	5095	c.5063G>A	c.(5062-5064)tGg>tAg	p.W1688*	MED12_ENST00000333646.6_Nonsense_Mutation_p.W1688*|MED12_ENST00000374102.1_Nonsense_Mutation_p.W1688*			Q93074	MED12_HUMAN	mediator complex subunit 12	1688	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATCTCGCCCTGGGATCTTTTT	0.517			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0			X											50	49	49					X																	70356168		1897	4121	6018	70272893	SO:0001587	stop_gained	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.5063G>A	X.37:g.70356168G>A	ENSP00000363193:p.Trp1688*	295	0	0		2	95	38	70272893	40	69.34	95	O15410|O75557|Q9UHV6|Q9UND7	Nonsense_Mutation	SNP	HMMPfam_Med12	p.W1688*	ENST00000374080.3	37	c.5063	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	-	45	11.927492	0.99618	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	.	.	.	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.4503	15.9747	0.80054	0.0:0.0:1.0:0.0	.	.	.	.	X	1688;1688;1688;1688;1656;433	.	ENSP00000333125:W1688X	W	+	2	0	MED12	70272893	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.597000	0.98273	2.020000	0.59435	0.436000	0.28706	TGG	-	NULL		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	protein_coding	OTTHUMT00000057105.1	G	NM_005120		70272893	1	no_errors	NM_005120.2	genbank	human	validated	54_36p	nonsense	SNP	1.000	A	A	70356168	G	A	70356168	4	1	19	1	0	0	0	0	0	1	0	0	9428	1357	47	2	5209	2	MED12	23	70356168	Nonsense_Mutation	SNP	G	TCGA-AB-2822-03D-01W-0755-09	16920090	70356168	84914392	22	259											
FAM90A1	55138	genome.wustl.edu	37	12	8377368	8377368	+	Frame_Shift_Del	DEL	G	G	-	rs553658866		TCGA-AB-2823-03B-01W-0728-08	TCGA-AB-2823-11B-01W-0728-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	27e6c28b-efce-439e-9198-2bb73202fbe0	0dbb8820-77bb-4861-adfd-d383f5d41360	g.chr12:8377368delG	ENST00000538603.1	-	4	619	c.61delC	c.(61-63)cagfs	p.Q21fs	FAM90A1_ENST00000307435.6_Frame_Shift_Del_p.Q21fs	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	21							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CGCTGCTTCTGGAGGGTCTGG	0.607													|||unknown(NO_COVERAGE)	41	0.0081869	0	0.0072	5008	,	,		13918	0		0.0179	False		,,,				2504	0.0184					dbGAP											0			12								12,4248		0,12,2118	23	28	27			-0.6	0	12		26	132,8118		1,130,3994	no	frameshift	FAM90A1	NM_018088.3		1,142,6112	A1A1,A1R,RR		1.6,0.2817,1.1511			8377368	144,12366	2203	4295	6498	8268635	SO:0001589	frameshift_variant	0			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.61delC	12.37:g.8377368delG	ENSP00000445418:p.Gln21fs	249	1.58	4		0	0	0	8268635	41	28.07	16	D3DUU9|Q9NVZ6	Frame_Shift_Del	DEL	NULL	p.Q21fs	ENST00000538603.1	37	c.61	CCDS31738.1	12																																																																																			-	NULL		0.607	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM90A1	protein_coding	OTTHUMT00000400468.1	G	NM_018088		8268635	-1	no_errors	NM_018088.3	genbank	human	validated	54_36p	frame_shift_del	DEL	0.000	-	-	8377368	G	-	8377368	7	5	20	1	0	1	0	1	0	0	0	0	5650	1357	47	0	1349	0	FAM90A1	12	8377368	Frame_Shift_Del	DEL	G	TCGA-AB-2823-03B-01W-0728-08		8377368	125474527	1	260											
DNMT3A	1788	genome.wustl.edu	37	2	25463286	25463286	+	Missense_Mutation	SNP	C	C	T	rs139293773		TCGA-AB-2824-03B-01W-0728-08	TCGA-AB-2824-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cc17877a-9444-4476-9fc7-3e53e702e7a5	33596319-5024-4e92-bf38-ac65a78fdb4c	g.chr2:25463286C>T	ENST00000264709.3	-	19	2544	c.2207G>A	c.(2206-2208)cGc>cAc	p.R736H	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R547H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R736H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R513H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	736	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R736H(3)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCAGGAGGCGGTAGAACTC	0.587			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	72	70	71		2207,1640,2207	4.5	1	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	736/913,547/724,736/913	25463286	1,13005	2203	4300	6503	25316790	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2207G>A	2.37:g.25463286C>T	ENSP00000264709:p.Arg736His	37	9.52	4		6	60	9	25316790	36	50	36	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R736H	ENST00000264709.3	37	c.2207	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165867	0.78339	0.0	1.16E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.38	4.5	0.54988	.	0.047243	0.85682	N	0.000000	D	0.91981	0.7460	M	0.73372	2.23	0.80722	D	1	D;P	0.69078	0.997;0.704	P;B	0.62298	0.9;0.151	D	0.89917	0.4056	10	0.22706	T	0.39	-9.1764	12.5433	0.56184	0.0:0.9186:0.0:0.0814	.	736;547	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	547;736;736;513	ENSP00000370122:R547H;ENSP00000324375:R736H;ENSP00000264709:R736H;ENSP00000384237:R513H	ENSP00000264709:R736H	R	-	2	0	DNMT3A	25316790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.732000	0.47352	1.277000	0.44412	0.561000	0.74099	CGC	-	HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.587	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25316790	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25463286	C	T	25463286	3	4	21	1	0	0	0	0	1	0	0	0	4676	768	27	1	551	1	DNMT3A	2	25463286	Missense_Mutation	SNP	C	TCGA-AB-2824-03B-01W-0728-08		25463286	217736087	1	261											
MDH1B	130752	genome.wustl.edu	37	2	207619823	207619823	+	Missense_Mutation	SNP	G	G	A	rs545659170		TCGA-AB-2824-03B-01W-0728-08	TCGA-AB-2824-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cc17877a-9444-4476-9fc7-3e53e702e7a5	33596319-5024-4e92-bf38-ac65a78fdb4c	g.chr2:207619823G>A	ENST00000374412.3	-	5	1095	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R274C|MDH1B_ENST00000449792.1_Missense_Mutation_p.R176C	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	274					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.R274C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TGTGCAATGCGTGGGGCATAT	0.473													G|||	1	0.000199681	0	0	5008	,	,		19983	0		0	False		,,,				2504	0.001				Pancreas(76;29 1355 28675 37177 51207)	dbGAP											1	Substitution - Missense(1)	large_intestine(1)	2											123	109	114					2																	207619823		2203	4300	6503	207328068	SO:0001583	missense	0				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.820C>T	2.37:g.207619823G>A	ENSP00000363533:p.Arg274Cys	201	12.61	29					207328068	154	44.41	127	A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	superfamily_LDH C-terminal domain-like,superfamily_NAD(P)-binding Rossmann-fold domains	p.R274C	ENST00000374412.3	37	c.820	CCDS33365.1	2	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114777	0.56505	.	.	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.07114	3.22;3.22;3.22	5.49	-0.661	0.11417	NAD(P)-binding domain (1);	0.623994	0.18753	N	0.132136	T	0.05318	0.0141	N	0.08118	0	0.09310	N	1	D;D	0.56521	0.976;0.959	P;P	0.52710	0.707;0.513	T	0.29671	-1.0004	10	0.87932	D	0	-0.7766	0.9488	0.01371	0.3283:0.0913:0.227:0.3533	.	274;274	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	C	274;176;274	ENSP00000363533:R274C;ENSP00000416577:R176C;ENSP00000389916:R274C	ENSP00000363533:R274C	R	-	1	0	MDH1B	207328068	0.050000	0.20438	0.002000	0.10522	0.002000	0.02628	2.765000	0.47621	0.108000	0.17862	-0.262000	0.10625	CGC	-	superfamily_NAD(P)-binding Rossmann-fold domains		0.473	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	protein_coding	OTTHUMT00000256429.2	G	NM_001039845		207328068	-1	no_errors	NM_001039845.1	genbank	human	validated	54_36p	missense	SNP	0.067	A	A	207619823	G	A	207619823	3	1	21	1	0	0	0	0	1	0	0	0	9409	1145	40	1	768	1	MDH1B	2	207619823	Missense_Mutation	SNP	G	TCGA-AB-2824-03B-01W-0728-08	182156537	207619823	35579550	2	262											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2824-03B-01W-0728-08	TCGA-AB-2824-11B-01W-0728-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cc17877a-9444-4476-9fc7-3e53e702e7a5	33596319-5024-4e92-bf38-ac65a78fdb4c	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	21	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2824-03B-01W-0728-08		170837547	10077713	3	263											
RAB23	51715	genome.wustl.edu	37	6	57058702	57058702	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2824-03B-01W-0728-08	TCGA-AB-2824-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cc17877a-9444-4476-9fc7-3e53e702e7a5	33596319-5024-4e92-bf38-ac65a78fdb4c	g.chr6:57058702T>C	ENST00000317483.3	-	6	1131	c.512A>G	c.(511-513)cAg>cGg	p.Q171R	RAB23_ENST00000468148.1_Missense_Mutation_p.Q171R	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	171					autophagic vacuole assembly (GO:0000045)|cellular defense response (GO:0006968)|cilium assembly (GO:0042384)|craniofacial suture morphogenesis (GO:0097094)|embryonic digit morphogenesis (GO:0042733)|GTP catabolic process (GO:0006184)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription factor import into nucleus (GO:0042992)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|small GTPase mediated signal transduction (GO:0007264)|spinal cord dorsal/ventral patterning (GO:0021513)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTGAGTTTCTGAAGGTATTT	0.328																																						dbGAP											0			6											127	117	121					6																	57058702		2201	4297	6498	57166661	SO:0001583	missense	0			AB034244	CCDS4962.1	6p12.1	2008-05-15			ENSG00000112210	ENSG00000112210		"RAB, member RAS oncogene"	14263	protein-coding gene	gene with protein product		606144					Standard	NM_016277		Approved		uc003pdt.3	Q9ULC3	OTTHUMG00000014918	ENST00000317483.3:c.512A>G	6.37:g.57058702T>C	ENSP00000320413:p.Gln171Arg	83	1.19	1		5	0	0	57166661	194	17.09	40	B2R9I5|Q68DJ6|Q8NI06|Q9P023	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q171R	ENST00000317483.3	37	c.512	CCDS4962.1	6	.	.	.	.	.	.	.	.	.	.	T	16.07	3.018688	0.54576	.	.	ENSG00000112210	ENST00000317483;ENST00000468148	T;T	0.79554	-1.28;-1.28	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	N	0.11756	0.17	0.80722	D	1	B	0.29212	0.237	B	0.33750	0.169	T	0.63051	-0.6723	10	0.39692	T	0.17	-2.6597	16.1526	0.81632	0.0:0.0:0.0:1.0	.	171	Q9ULC3	RAB23_HUMAN	R	171	ENSP00000320413:Q171R;ENSP00000417610:Q171R	ENSP00000320413:Q171R	Q	-	2	0	RAB23	57166661	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	7.111000	0.77077	2.210000	0.71456	0.455000	0.32223	CAG	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.328	RAB23-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB23	protein_coding	OTTHUMT00000041042.1	T			57166661	-1	no_errors	NM_016277.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	57058702	T	C	57058702	3	2	21	1	0	0	0	0	1	0	0	0	12910	1580	55	3	209	3	RAB23	6	57058702	Missense_Mutation	SNP	T	TCGA-AB-2824-03B-01W-0728-08		57058702	114056365	4	264											
SMC1A	8243	genome.wustl.edu	37	X	53426626	53426626	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2824-03B-01W-0728-08	TCGA-AB-2824-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cc17877a-9444-4476-9fc7-3e53e702e7a5	33596319-5024-4e92-bf38-ac65a78fdb4c	g.chrX:53426626C>T	ENST00000322213.4	-	16	2574	c.2447G>A	c.(2446-2448)cGc>cAc	p.R816H		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	816			R -> G (in CDLS2). {ECO:0000269|PubMed:19701948}.		DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AATGCCCAAGCGAGTCTTCTG	0.398																																						dbGAP											0			X											106	87	93					X																	53426626		2203	4300	6503	53443351	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2447G>A	X.37:g.53426626C>T	ENSP00000323421:p.Arg816His	72	1.37	1		43	33.85	22	53443351	187	19.23	45	O14995|Q16351|Q2M228	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540	p.R816H	ENST00000322213.4	37	c.2447	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370543	0.82573	.	.	ENSG00000072501	ENST00000322213	T	0.78707	-1.2	4.9	4.04	0.47022	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.88976	0.6584	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.90102	0.4185	10	0.87932	D	0	.	11.7319	0.51741	0.0:0.9092:0.0:0.0908	.	794;816	Q6MZR8;Q14683	.;SMC1A_HUMAN	H	816	ENSP00000323421:R816H	ENSP00000323421:R816H	R	-	2	0	SMC1A	53443351	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	7.580000	0.82523	0.996000	0.38943	-0.191000	0.12829	CGC	-	HMMPfam_SMC_N,superfamily_SSF52540		0.398	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	C	NM_006306		53443351	-1	no_errors	NM_006306.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	53426626	C	T	53426626	3	4	21	1	0	0	0	0	1	0	0	0	14781	768	27	1	1294	1	SMC1A	23	53426626	Missense_Mutation	SNP	C	TCGA-AB-2824-03B-01W-0728-08		53426626	101843934	5	265											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2825-03D-01W-0755-09	TCGA-AB-2825-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e6e4b579-9ddf-4fb1-bb65-db8321294852	92fea42d-aa1c-40c8-9216-fa500bbe11b7	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	41	37.88	25		16	33.33	8	25310746	21	43.24	16	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	22	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2825-03D-01W-0755-09		25457242	217742131	1	266											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2825-03D-01W-0755-09	TCGA-AB-2825-11D-01W-0755-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e6e4b579-9ddf-4fb1-bb65-db8321294852	92fea42d-aa1c-40c8-9216-fa500bbe11b7	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	22	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2825-03D-01W-0755-09		170837547	10077713	2	267											
FLT3	2322	genome.wustl.edu	37	13	28608217	28608218	+	Splice_Site	INS	-	-	CCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG			TCGA-AB-2825-03D-01W-0755-09	TCGA-AB-2825-11D-01W-0755-09	-	-	-	CCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e6e4b579-9ddf-4fb1-bb65-db8321294852	92fea42d-aa1c-40c8-9216-fa500bbe11b7	g.chr13:28608217_28608218insCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG	ENST00000241453.7	-	14	1919		c.e14+1		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCCATTCTTACCAAACTCTAA	0.381			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13																																								27506218	SO:0001630	splice_region_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1837+1->CACGAATACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGG	13.37:g.28608217_28608218insCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG									27506217				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	-	in_frame_ins	ENST00000241453.7	37		CCDS31953.1	13																																																																																			-	-		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-		Intron	27506218	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	CCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG	CCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG	28608218	-	CCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTATTCGTG	28608217	8	5	22	1	0	1	1	0	0	0	1	0	5942	405	14	0	1186	0	FLT3	13	28608217	Splice_Site	INS	-	TCGA-AB-2825-03D-01W-0755-09		28608217	86561661	3	268											
USP34	9736	genome.wustl.edu	37	2	61447538	61447538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2826-03B-01W-0728-08	TCGA-AB-2826-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	94c3b46a-19ad-4292-82c6-bd1790725616	80181e62-a10e-426c-adac-623bed8e1a60	g.chr2:61447538G>A	ENST00000398571.2	-	67	8030	c.7954C>T	c.(7954-7956)Cga>Tga	p.R2652*	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2652					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R2652R(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTTTATTTCGGGGTGTCTGC	0.428																																						dbGAP											1	Substitution - coding silent(1)	lung(1)	2											202	198	199					2																	61447538		1861	4097	5958	61301042	SO:0001587	stop_gained	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"Ubiquitin-specific peptidases"	20066	protein-coding gene	gene with protein product		615295	"ubiquitin specific protease 34"			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7954C>T	2.37:g.61447538G>A	ENSP00000381577:p.Arg2652*	87	4.4	4		35	16.28	7	61301042	137	26.84	51	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases	p.R2652*	ENST00000398571.2	37	c.7954	CCDS42686.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.550293|5.550293	0.96501|0.96501	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000411912|ENST00000263989;ENST00000398569;ENST00000398571	T|.	0.40756|.	1.02|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.48624|.	0.1510|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37478|.	-0.9704|.	5|.	0.66056|0.02654	D|T	0.02|1	.|.	20.0371|20.0371	0.97565|0.97565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	411|2500;2500;2652	ENSP00000398960:P411L|.	ENSP00000398960:P411L|ENSP00000263989:R2500X	P|R	-|-	2|1	0|2	USP34|USP34	61301042|61301042	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	4.905000|4.905000	0.63286|0.63286	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	CCG|CGA	-	NULL		0.428	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	protein_coding	OTTHUMT00000325650.4	G			61301042	-1	no_errors	NM_014709.3	genbank	human	validated	54_36p	nonsense	SNP	1.000	A	A	61447538	G	A	61447538	4	1	23	1	0	0	0	0	0	1	0	0	17062	1124	39	1	2742	1	USP34	2	61447538	Nonsense_Mutation	SNP	G	TCGA-AB-2826-03B-01W-0728-08		61447538	181751835	1	269											
KDR	3791	genome.wustl.edu	37	4	55956194	55956194	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2826-03B-01W-0728-08	TCGA-AB-2826-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	94c3b46a-19ad-4292-82c6-bd1790725616	80181e62-a10e-426c-adac-623bed8e1a60	g.chr4:55956194C>T	ENST00000263923.4	-	23	3416	c.3121G>A	c.(3121-3123)Gtg>Atg	p.V1041M	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1041	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V1041M(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTTTAACCACGTTCTTCTCC	0.438			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - Missense(1)	central_nervous_system(1)	4											98	95	96					4																	55956194		2203	4300	6503	55650951	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.3121G>A	4.37:g.55956194C>T	ENSP00000263923:p.Val1041Met	137	8.67	13					55650951	118	43.81	92	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.V1041M	ENST00000263923.4	37	c.3121	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	C	24.2	4.503872	0.85176	.	.	ENSG00000128052	ENST00000263923	D	0.89875	-2.58	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92586	0.7645	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92866	0.6310	10	0.87932	D	0	.	20.0835	0.97793	0.0:1.0:0.0:0.0	.	1041	P35968	VGFR2_HUMAN	M	1041	ENSP00000263923:V1041M	ENSP00000263923:V1041M	V	-	1	0	KDR	55650951	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.878000	0.63093	2.822000	0.97130	0.563000	0.77884	GTG	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.438	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	C			55650951	-1	no_errors	NM_002253.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	55956194	C	T	55956194	3	4	23	1	0	0	0	0	1	0	0	0	8139	536	19	1	981	1	KDR	4	55956194	Missense_Mutation	SNP	C	TCGA-AB-2826-03B-01W-0728-08		55956194	135198082	2	270											
KRAS	3845	genome.wustl.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	A	rs17851045		TCGA-AB-2826-03B-01W-0728-08	TCGA-AB-2826-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	94c3b46a-19ad-4292-82c6-bd1790725616	80181e62-a10e-426c-adac-623bed8e1a60	g.chr12:25380275T>A	ENST00000256078.4	-	3	246	c.183A>T	c.(181-183)caA>caT	p.Q61H	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	153	Substitution - Missense(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	12											109	98	102					12																	25380275		2203	4300	6503	25271542	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>T	12.37:g.25380275T>A	ENSP00000256078:p.Gln61His	61	7.58	5		12	25	4	25271542	80	24.53	26	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q61H	ENST00000256078.4	37	c.183	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243092	0.79912	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	rs17851045	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	T	NM_033360		25271542	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25380275	T	A	25380275	3	1	23	1	0	0	0	0	1	0	0	0	8438	1606	56	5	519	5	KRAS	12	25380275	Missense_Mutation	SNP	T	TCGA-AB-2826-03B-01W-0728-08		25380275	108471620	3	271											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2826-03B-01W-0728-08	TCGA-AB-2826-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	94c3b46a-19ad-4292-82c6-bd1790725616	80181e62-a10e-426c-adac-623bed8e1a60	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_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron	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	103	103					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	71	5.26	4		145	40.89	101	88432938	60	43.93	47	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	T	90631934	C	T	90631934	3	4	23	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2826-03B-01W-0728-08		90631934	11899458	4	272											
EPHA10	284656	genome.wustl.edu	37	1	38227576	38227576	+	Silent	SNP	G	G	A			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr1:38227576G>A	ENST00000373048.4	-	3	350	c.351C>T	c.(349-351)ggC>ggT	p.G117G	EPHA10_ENST00000319637.6_Silent_p.G117G|EPHA10_ENST00000427468.2_Silent_p.G117G	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	117	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TACCCGCGGCGCCAGGGATGC	0.662																																						dbGAP											0			1											91	94	93					1																	38227576		2203	4300	6503	38000163	SO:0001819	synonymous_variant	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.351C>T	1.37:g.38227576G>A		187	1.06	2					38000163	52	13.11	8	A4FU89|J3KPB5|Q6NW42	Silent	SNP	HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2	p.G117	ENST00000373048.4	37	c.351	CCDS41305.1	1																																																																																			-	HMMPfam_Ephrin_lbd,HMMSmart_SM00615,superfamily_Galactose-binding domain-like		0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	protein_coding	OTTHUMT00000012497.2	G	NM_173641		38000163	-1	no_errors	NM_001099439.1	genbank	human	validated	54_36p	silent	SNP	0.531	A	A	38227576	G	A	38227576	2	1	24	1	0	0	0	0	0	0	0	1	5166	1074	38	1		1	EPHA10	1	38227576	Silent	SNP	G	TCGA-AB-2827-03B-01W-0728-08		38227576	211023045	1	273											
SELENBP1	8991	genome.wustl.edu	37	1	151337703	151337703	+	Missense_Mutation	SNP	C	C	T	rs72710112	byFrequency	TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr1:151337703C>T	ENST00000368868.5	-	10	1190	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	SELENBP1_ENST00000435071.1_Missense_Mutation_p.E303K|SELENBP1_ENST00000426705.2_Missense_Mutation_p.E409K|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Missense_Mutation_p.E305K	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	367					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTAGTTCCTCGTCCTCCAGC	0.577													G|||	51	0.0101837	0.0166	0.0086	5008	,	,		20479	0		0.0169	False		,,,				2504	0.0061					dbGAP											0			1						G	LYS/GLU	65,4341		0,65,2138	53	53	53		1099	1.5	1	1	dbSNP_130	53	104,8496		1,102,4197	yes	missense	SELENBP1	NM_003944.2	56	1,167,6335	TT,TC,CC		1.2093,1.4753,1.2994	benign	367/473	151337703	169,12837	2203	4300	6503	149604327	SO:0001583	missense	0			U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1099G>A	1.37:g.151337703C>T	ENSP00000357861:p.Glu367Lys	16	5.88	1					149604327	113	44.98	94	A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C	p.E367K	ENST00000368868.5	37	c.1099	CCDS995.1	1	30	0.013736263736263736	11	0.022357723577235773	6	0.016574585635359115	0	0.0	13	0.017150395778364115	G	10.74	1.434871	0.25813	0.014753	0.012093	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.59	1.53	0.23141	.	0.335079	0.30850	N	0.008752	T	0.03915	0.0110	N	0.04043	-0.29	0.18873	N	0.999988	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.45175	-0.9279	9	0.07482	T	0.82	6.8005	8.4162	0.32672	0.0:0.2361:0.4133:0.3506	.	305;220;303;367	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	K	367;305;303	.	ENSP00000357861:E367K	E	-	1	0	SELENBP1	149604327	1.000000	0.71417	0.983000	0.44433	0.471000	0.32888	0.932000	0.28884	0.554000	0.29061	-0.120000	0.15030	GAG	-	HMMPfam_SBP56,superfamily_Cyt_cd1_haem_C		0.577	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SELENBP1	protein_coding	OTTHUMT00000034904.4	C			149604327	-1	no_errors	NM_003944.2	genbank	human	reviewed	54_36p	missense	SNP	0.978	T	T	151337703	C	T	151337703	3	4	24	1	0	0	0	0	1	0	0	0	14014	893	31	1	331	1	SELENBP1	1	151337703	Missense_Mutation	SNP	C	TCGA-AB-2827-03B-01W-0728-08	113110127	151337703	97912918	2	274											
PPIC	5480	genome.wustl.edu	37	5	122361517	122361517	+	Missense_Mutation	SNP	C	C	T	rs143084462	byFrequency	TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr5:122361517C>T	ENST00000306442.4	-	4	587	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	158	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	ACATGTTTGCCGTCCAACCAG	0.438													C|||	6	0.00119808	0	0.0043	5008	,	,		19469	0		0.003	False		,,,				2504	0				Ovarian(99;690 1502 20765 45543 49568)	dbGAP											0			5						C	SER/GLY	12,4394	17.9+/-39.9	0,12,2191	81	70	74		472	5.7	1	5	dbSNP_134	74	56,8544	35.3+/-89.8	0,56,4244	yes	missense	PPIC	NM_000943.4	56	0,68,6435	TT,TC,CC		0.6512,0.2724,0.5228	probably-damaging	158/213	122361517	68,12938	2203	4300	6503	122389416	SO:0001583	missense	0			S71018	CCDS4133.1	5q23.2	2008-02-05			ENSG00000168938	ENSG00000168938	5.2.1.8		9256	protein-coding gene	gene with protein product		123842				1383094, 8031755	Standard	NM_000943		Approved	CYPC	uc003kth.3	P45877	OTTHUMG00000128921	ENST00000306442.4:c.472G>A	5.37:g.122361517C>T	ENSP00000303057:p.Gly158Ser	58	9.38	6					122389416	91	35.21	50	A4LBB5	Missense_Mutation	SNP	HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_Cyclophilin-like	p.G158S	ENST00000306442.4	37	c.472	CCDS4133.1	5	5	0.0022893772893772895	0	0.0	3	0.008287292817679558	0	0.0	2	0.002638522427440633	C	35	5.509631	0.96386	0.002724	0.006512	ENSG00000168938	ENST00000306442	T	0.43294	0.95	5.65	5.65	0.86999	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.64821	0.2633	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72874	-0.4160	10	0.87932	D	0	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	158	P45877	PPIC_HUMAN	S	158	ENSP00000303057:G158S	ENSP00000303057:G158S	G	-	1	0	PPIC	122389416	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	4.537000	0.60643	2.941000	0.99782	0.655000	0.94253	GGC	-	HMMPfam_Pro_isomerase,superfamily_Cyclophilin-like		0.438	PPIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIC	protein_coding	OTTHUMT00000250898.2	C	NM_000943		122389416	-1	no_errors	NM_000943.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	122361517	C	T	122361517	3	4	24	1	0	0	0	0	1	0	0	0	12320	652	23	1	174	1	PPIC	5	122361517	Missense_Mutation	SNP	C	TCGA-AB-2827-03B-01W-0728-08		122361517	58553743	3	275											
ATXN7L1	222255	genome.wustl.edu	37	7	105278946	105278946	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr7:105278946C>G	ENST00000419735.3	-	7	1101	c.1056G>C	c.(1054-1056)gaG>gaC	p.E352D	ATXN7L1_ENST00000477775.1_Missense_Mutation_p.E228D|ATXN7L1_ENST00000472910.1_5'UTR	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	352										endometrium(1)|large_intestine(4)|lung(5)	10						TCAGGAGATGCTCTTTATCTT	0.522																																						dbGAP											0			7											123	107	112					7																	105278946		692	1591	2283	105066182	SO:0001583	missense	0			AB033044	CCDS34727.1, CCDS47682.1, CCDS47683.1	7q22.1	2007-11-13			ENSG00000146776	ENSG00000146776			22210	protein-coding gene	gene with protein product			"ataxin 7-like 4"	ATXN7L4		15115762	Standard	NM_152749		Approved	KIAA1218, MGC33190	uc003vde.2	Q9ULK2	OTTHUMG00000157521	ENST00000419735.3:c.1056G>C	7.37:g.105278946C>G	ENSP00000410759:p.Glu352Asp	21	0	0					105066182	99	44.75	81	A4D0Q2|B4DTS1|Q8N2T0	Missense_Mutation	SNP	HMMPfam_SCA7	p.E355D	ENST00000419735.3	37	c.1065	CCDS47682.1	7	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007332	0.54361	.	.	ENSG00000146776	ENST00000419735;ENST00000477775;ENST00000472195	T;T;T	0.16073	2.38;2.37;2.37	5.49	3.69	0.42338	.	0.000000	0.64402	D	0.000006	T	0.21921	0.0528	N	0.22421	0.69	0.80722	D	1	D;B;D	0.58268	0.982;0.244;0.982	D;B;P	0.67548	0.952;0.097;0.622	T	0.03008	-1.1083	10	0.21540	T	0.41	.	9.5849	0.39510	0.0:0.7864:0.0:0.2136	.	136;228;352	A4D0Q3;Q9ULK2-3;Q9ULK2	.;.;AT7L1_HUMAN	D	352;228;228	ENSP00000410759:E352D;ENSP00000418476:E228D;ENSP00000419566:E228D	ENSP00000410759:E352D	E	-	3	2	ATXN7L1	105066182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.437000	0.44828	0.814000	0.34374	0.655000	0.94253	GAG	-	NULL		0.522	ATXN7L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L1	protein_coding	OTTHUMT00000349037.2	C			105066182	-1	no_start_codon	ENST00000297416	ensembl	human	known	54_36p	missense	SNP	1.000	G	G	105278946	C	G	105278946	3	3	24	1	0	0	0	0	1	0	0	0	1216	796	28	4	1556	4	ATXN7L1	7	105278946	Missense_Mutation	SNP	C	TCGA-AB-2827-03B-01W-0728-08		105278946	53859717	4	276											
MYC	4609	genome.wustl.edu	37	8	128750684	128750684	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr8:128750684C>T	ENST00000259523.6	+	2	1381	c.176C>T	c.(175-177)cCg>cTg	p.P59L	MYC_ENST00000524013.1_Missense_Mutation_p.P73L|MYC_ENST00000377970.2_Missense_Mutation_p.P74L			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	59			P -> A (in a Burkitt lymphoma sample). {ECO:0000269|PubMed:8220424}.		branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CTGCCCACCCCGCCCCTGTCC	0.677		3	"A, T"	"IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"	"Burkitt lymphoma,  amplified in other cancers, B-CLL"						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"L, E"	0			8											16	19	18					8																	128750684		2203	4299	6502	128819866	SO:0001583	missense	0				CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"Basic helix-loop-helix proteins"	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.176C>T	8.37:g.128750684C>T	ENSP00000259523:p.Pro59Leu	80	0	0	1567				128819866	56	16.18	11	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_Myc-LZ,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_Myc_N	p.P74L	ENST00000259523.6	37	c.221		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.09|16.09	3.025619|3.025619	0.54683|0.54683	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617|ENST00000520751	T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Transcription regulator Myc, N-terminal (1);|.	0.049059|.	0.85682|.	D|.	0.000000|.	D|D	0.83124|0.83124	0.5186|0.5186	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.86425|0.86425	0.1757|0.1757	10|6	0.87932|0.87932	D|D	0|0	-28.4733|-28.4733	17.3275|17.3275	0.87253|0.87253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	59|.	P01106|.	MYC_HUMAN|.	L|C	59;73;74;73;40|48	ENSP00000259523:P59L;ENSP00000429441:P73L;ENSP00000367207:P74L;ENSP00000430235:P73L|.	ENSP00000259523:P59L|ENSP00000430226:R48C	P|R	+|+	2|1	0|0	MYC|MYC	128819866|128819866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.536000|7.536000	0.82023|0.82023	2.654000|2.654000	0.90174|0.90174	0.561000|0.561000	0.74099|0.74099	CCG|CGC	-	HMMPfam_Myc_N		0.677	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	protein_coding	OTTHUMT00000250278.1	C			128819866	1	no_errors	NM_002467.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	128750684	C	T	128750684	3	4	24	1	0	0	0	0	1	0	0	0	10016	652	23	1	227	1	MYC	8	128750684	Missense_Mutation	SNP	C	TCGA-AB-2827-03B-01W-0728-08		128750684	17613338	5	277											
KANK1	23189	genome.wustl.edu	37	9	711981	711981	+	Silent	SNP	C	C	G			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr9:711981C>G	ENST00000382303.1	+	7	1867	c.1215C>G	c.(1213-1215)gcC>gcG	p.A405A	KANK1_ENST00000382293.3_Silent_p.A247A|KANK1_ENST00000382297.2_Silent_p.A405A|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	405	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGTGGGTGCCGAGGAGAACA	0.562																																						dbGAP											0			9											94	73	80					9																	711981		2203	4300	6503	701981	SO:0001819	synonymous_variant	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"KN motif and ankyrin repeat domain containing", "Ankyrin repeat domain containing"	19309	protein-coding gene	gene with protein product		607704	"ankyrin repeat domain 15"	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1215C>G	9.37:g.711981C>G		48	0	0					701981	97	18.55	23	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK	p.A405	ENST00000382303.1	37	c.1215	CCDS34976.1	9																																																																																			-	superfamily_ANK		0.562	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	protein_coding	OTTHUMT00000051484.2	C	NM_015158		701981	1	no_errors	NM_015158.2	genbank	human	reviewed	54_36p	silent	SNP	0.883	G	G	711981	C	G	711981	2	3	24	1	0	0	0	0	0	0	0	1	7976	639	23	4		4	KANK1	9	711981	Silent	SNP	C	TCGA-AB-2827-03B-01W-0728-08		711981	140501450	6	278											
TMCO3	55002	genome.wustl.edu	37	13	114193794	114193794	+	Silent	SNP	C	C	T			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr13:114193794C>T	ENST00000434316.2	+	10	2021	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	554						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TCCGCGACTTCCTGGCCATCG	0.522																																						dbGAP											0			13											83	80	81					13																	114193794		2203	4300	6503	113241795	SO:0001819	synonymous_variant	0			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 11"	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1662C>T	13.37:g.114193794C>T		121	0	0					113241795	127	39.44	84	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Silent	SNP	HMMPfam_Na_H_Exchanger	p.F554	ENST00000434316.2	37	c.1662	CCDS9537.1	13																																																																																			-	HMMPfam_Na_H_Exchanger		0.522	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	protein_coding	OTTHUMT00000045931.3	C	NM_017905		113241795	1	no_errors	NM_017905.4	genbank	human	validated	54_36p	silent	SNP	0.996	T	T	114193794	C	T	114193794	2	4	24	1	0	0	0	0	0	0	0	1	15994	854	30	2		2	TMCO3	13	114193794	Silent	SNP	C	TCGA-AB-2827-03B-01W-0728-08		114193794	976084	7	279											
SPESP1	246777	genome.wustl.edu	37	15	69238661	69238661	+	Missense_Mutation	SNP	G	G	A	rs371688614		TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr15:69238661G>A	ENST00000310673.3	+	2	942	c.788G>A	c.(787-789)cGa>cAa	p.R263Q	NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	263				R -> P (in Ref. 1; AAM69364). {ECO:0000305}.	acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCTAAAACGAAGCCTTGCT	0.373																																						dbGAP											0			15						G	GLN/ARG,	0,4400		0,0,2200	59	60	60		788,	2.2	0.7	15		60	1,8595	1.2+/-3.3	0,1,4297	no	missense,intron	NOX5,SPESP1	NM_145658.3,NM_001184780.1	43,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,	263/351,	69238661	1,12995	2200	4298	6498	67025715	SO:0001583	missense	0			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.788G>A	15.37:g.69238661G>A	ENSP00000312284:p.Arg263Gln	6	0	0					67025715	134	20	34	Q8NG22|Q8WVH8	Missense_Mutation	SNP	NULL	p.R263Q	ENST00000310673.3	37	c.788	CCDS10230.1	15	.	.	.	.	.	.	.	.	.	.	G	14.67	2.606177	0.46527	0.0	1.16E-4	ENSG00000258484	ENST00000310673	T	0.24723	1.84	5.28	2.24	0.28232	.	0.225081	0.22654	N	0.057288	T	0.17408	0.0418	L	0.34521	1.04	0.22787	N	0.99873	D	0.55172	0.97	B	0.43754	0.43	T	0.10917	-1.0609	10	0.59425	D	0.04	-5.4787	4.5682	0.12196	0.1953:0.1834:0.6212:0.0	.	263	Q6UW49	SPESP_HUMAN	Q	263	ENSP00000312284:R263Q	ENSP00000312284:R263Q	R	+	2	0	SPESP1	67025715	0.960000	0.32886	0.710000	0.30468	0.163000	0.22366	1.605000	0.36815	1.366000	0.46076	0.655000	0.94253	CGA	-	NULL		0.373	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPESP1	protein_coding	OTTHUMT00000257125.1	G	NM_145658		67025715	1	no_errors	NM_145658.2	genbank	human	provisional	54_36p	missense	SNP	0.090	A	A	69238661	G	A	69238661	3	1	24	1	0	0	0	0	1	0	0	0	15039	1058	37	1	794	1	SPESP1	15	69238661	Missense_Mutation	SNP	G	TCGA-AB-2827-03B-01W-0728-08		69238661	33292731	8	280											
FAM65A	79567	genome.wustl.edu	37	16	67573989	67573989	+	Missense_Mutation	SNP	C	C	T	rs374336975		TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr16:67573989C>T	ENST00000379312.3	+	7	581	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	FAM65A_ENST00000540839.3_Missense_Mutation_p.R170W|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.R164W|FAM65A_ENST00000042381.4_Missense_Mutation_p.R150W|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.R170W|FAM65A_ENST00000566522.1_3'UTR|CTD-2012K14.4_ENST00000564717.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	154						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTGTGTCCAGCGGCGTCTCCG	0.627																																						dbGAP											0			16						C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	112	109	110		460,508,490,448	4.2	1	16		110	3,8597	3.0+/-9.4	0,3,4297	no	missense,missense,missense,missense	FAM65A	NM_001193522.1,NM_001193523.1,NM_001193524.1,NM_024519.3	101,101,101,101	0,3,6495	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	154/1224,170/1240,164/1234,150/1220	67573989	3,12993	2198	4300	6498	66131490	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.460C>T	16.37:g.67573989C>T	ENSP00000368614:p.Arg154Trp	99	6.6	7					66131490	192	46.45	170	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R150W	ENST00000379312.3	37	c.448	CCDS54028.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.3|25.3	4.623546|4.623546	0.87460|0.87460	0.0|0.0	3.49E-4|3.49E-4	ENSG00000039523|ENSG00000039523	ENST00000428437|ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	.|T;T;T	.|0.02085	.|4.46;4.46;4.46	5.22|5.22	4.24|4.24	0.50183|0.50183	.|.	.|0.112822	.|0.64402	.|D	.|0.000017	T|T	0.08358|0.08358	0.0208|0.0208	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.85130	.|0.997;0.997;0.997;0.997	T|T	0.13415|0.13415	-1.0510|-1.0510	5|10	.|0.51188	.|T	.|0.08	-7.4684|-7.4684	14.8567|14.8567	0.70344|0.70344	0.1449:0.8551:0.0:0.0|0.1449:0.8551:0.0:0.0	.|.	.|164;170;154;170	.|B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.|.;.;FA65A_HUMAN;.	V|W	144|154;150;170;164	.|ENSP00000368614:R154W;ENSP00000042381:R150W;ENSP00000400099:R170W	.|ENSP00000042381:R150W	A|R	+|+	2|1	0|2	FAM65A|FAM65A	66131490|66131490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	1.202000|1.202000	0.32271|0.32271	1.142000|1.142000	0.42291|0.42291	0.484000|0.484000	0.47621|0.47621	GCG|CGG	-	NULL		0.627	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	protein_coding	OTTHUMT00000268866.3	C	NM_024519		66131490	1	no_errors	NM_024519.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	67573989	C	T	67573989	3	4	24	1	0	0	0	0	1	0	0	0	5599	759	27	1	470	1	FAM65A	16	67573989	Missense_Mutation	SNP	C	TCGA-AB-2827-03B-01W-0728-08		67573989	22780764	9	281											
RNF157	114804	genome.wustl.edu	37	17	74158051	74158051	+	Silent	SNP	G	G	A			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr17:74158051G>A	ENST00000269391.6	-	10	957	c.825C>T	c.(823-825)gcC>gcT	p.A275A	RNF157_ENST00000319945.6_Silent_p.A275A	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	275							zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCACACACTCGGCACTGTTAT	0.547																																					GBM(186;507 2120 27388 27773 52994)	dbGAP											0			17											134	98	110					17																	74158051		2203	4300	6503	71669646	SO:0001819	synonymous_variant	0			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"RING-type (C3HC4) zinc fingers"	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.825C>T	17.37:g.74158051G>A		38	0	0					71669646	86	29.27	36	Q8NB72|Q96N56	Silent	SNP	HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box	p.A275	ENST00000269391.6	37	c.825	CCDS32740.1	17																																																																																			-	superfamily_RING/U-box		0.547	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF157	protein_coding	OTTHUMT00000255874.2	G	XM_290732		71669646	-1	no_errors	NM_052916.2	genbank	human	validated	54_36p	silent	SNP	0.627	A	A	74158051	G	A	74158051	2	1	24	1	0	0	0	0	0	0	0	1	13454	1103	39	1		1	RNF157	17	74158051	Silent	SNP	G	TCGA-AB-2827-03B-01W-0728-08		74158051	7037159	10	282											
USP36	57602	genome.wustl.edu	37	17	76825031	76825031	+	Silent	SNP	G	G	A			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr17:76825031G>A	ENST00000542802.3	-	5	977	c.534C>T	c.(532-534)ttC>ttT	p.F178F	USP36_ENST00000589424.1_Silent_p.F178F|USP36_ENST00000312010.6_Silent_p.F178F|USP36_ENST00000590546.2_Silent_p.F178F			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	178	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.F178F(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CGCTGTTGGCGAAGGCCTGGA	0.463																																						dbGAP											2	Substitution - coding silent(2)	breast(2)	17											76	71	73					17																	76825031		2203	4300	6503	74336626	SO:0001819	synonymous_variant	0			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"Ubiquitin-specific peptidases"	20062	protein-coding gene	gene with protein product		612543	"ubiquitin specific protease 36"			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.534C>T	17.37:g.76825031G>A		18	0	0					74336626	95	44.19	76	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	HMMPfam_UCH,PatternScan_IG_MHC,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001	p.F178	ENST00000542802.3	37	c.534	CCDS32755.1	17																																																																																			-	HMMPfam_UCH,superfamily_SSF54001		0.463	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	protein_coding	OTTHUMT00000437472.3	G	NM_025090		74336626	-1	no_errors	NM_025090.3	genbank	human	validated	54_36p	silent	SNP	0.979	A	A	76825031	G	A	76825031	2	1	24	1	0	0	0	0	0	0	0	1	17064	1049	37	1		1	USP36	17	76825031	Silent	SNP	G	TCGA-AB-2827-03B-01W-0728-08	2666980	76825031	4370179	11	283											
TEX19	400629	genome.wustl.edu	37	17	80320077	80320077	+	Silent	SNP	C	C	G	rs11557867	byFrequency	TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr17:80320077C>G	ENST00000333437.4	+	2	361	c.51C>G	c.(49-51)ctC>ctG	p.L17L		NM_207459.3	NP_997342.1	Q8NA77	TEX19_HUMAN	testis expressed 19	17					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						TGTCCTACCTCTACGCCTCCT	0.552													.|||	111	0.0221645	0.0257	0.0418	5008	,	,		22512	0		0.0378	False		,,,				2504	0.0102					dbGAP											0			17						C		179,4227	117.5+/-155.4	5,169,2029	180	155	163		51	-1.9	0	17	dbSNP_120	163	374,8226	122.2+/-181.2	11,352,3937	no	coding-synonymous	TEX19	NM_207459.3		16,521,5966	GG,GC,CC		4.3488,4.0626,4.2519		17/165	80320077	553,12453	2203	4300	6503	77913366	SO:0001819	synonymous_variant	0			BC016939	CCDS11809.1	17q25.3	2009-04-14			ENSG00000182459	ENSG00000182459			33802	protein-coding gene	gene with protein product		615647					Standard	NM_207459		Approved	FLJ35767	uc002keq.3	Q8NA77	OTTHUMG00000132857	ENST00000333437.4:c.51C>G	17.37:g.80320077C>G		61	1.61	1					77913366	14	30	6		Silent	SNP	NULL	p.L17	ENST00000333437.4	37	c.51	CCDS11809.1	17																																																																																			-	NULL		0.552	TEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ35767	protein_coding	OTTHUMT00000256331.1	C	NM_207459		77913366	1	no_errors	NM_207459.1	genbank	human	predicted	54_36p	silent	SNP	0.000	G	G	80320077	C	G	80320077	2	3	24	1	0	0	0	0	0	0	0	1	15777	900	32	4		4	TEX19	17	80320077	Silent	SNP	C	TCGA-AB-2827-03B-01W-0728-08	3495046	80320077	875133	12	284											
PLA2G4C	8605	genome.wustl.edu	37	19	48607930	48607930	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr19:48607930C>G	ENST00000599921.1	-	4	529	c.172G>C	c.(172-174)Gcc>Ccc	p.A58P	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A58P|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A58P|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A68P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	58	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CCAAGGCAGGCAATGTGAGCC	0.567																																						dbGAP											0			19											97	84	88					19																	48607930		2203	4300	6503	53299742	SO:0001583	missense	0			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.172G>C	19.37:g.48607930C>G	ENSP00000469473:p.Ala58Pro	30	3.23	1					53299742	57	47.75	53	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	HMMPfam_PLA2_B,HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase	p.A58P	ENST00000599921.1	37	c.172	CCDS12710.1	19	.	.	.	.	.	.	.	.	.	.	C	18.73	3.686828	0.68157	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.05717	3.4;3.4	3.37	3.37	0.38596	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.270973	0.29609	N	0.011675	T	0.25382	0.0617	M	0.85945	2.785	0.35746	D	0.819049	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.996;0.999	T	0.34477	-0.9827	10	0.66056	D	0.02	-17.0088	10.6005	0.45365	0.0:1.0:0.0:0.0	.	68;58;58	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	P	58	ENSP00000346228:A58P;ENSP00000400036:A58P	ENSP00000346228:A58P	A	-	1	0	PLA2G4C	53299742	0.982000	0.34865	0.986000	0.45419	0.922000	0.55478	2.098000	0.41757	1.590000	0.49995	0.404000	0.27445	GCC	-	HMMPfam_PLA2_B,HMMSmart_PLAc,superfamily_Acyl_Trfase/lysoPlipase		0.567	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	protein_coding	OTTHUMT00000465551.1	C			53299742	-1	no_errors	NM_003706.1	genbank	human	provisional	54_36p	missense	SNP	0.980	G	G	48607930	C	G	48607930	3	3	24	1	0	0	0	0	1	0	0	0	12003	710	25	4	1513	4	PLA2G4C	19	48607930	Missense_Mutation	SNP	C	TCGA-AB-2827-03B-01W-0728-08		48607930	10521053	13	285											
MTMR3	8897	genome.wustl.edu	37	22	30398934	30398934	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2827-03B-01W-0728-08	TCGA-AB-2827-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1a21f77d-2ab7-4b5a-b91a-2f561a459dd1	bf713301-022e-480e-8c3a-5c04981f30de	g.chr22:30398934G>C	ENST00000401950.2	+	9	965	c.623G>C	c.(622-624)aGt>aCt	p.S208T	MTMR3_ENST00000406629.1_Missense_Mutation_p.S208T|MTMR3_ENST00000351488.3_Missense_Mutation_p.S208T|MTMR3_ENST00000323630.5_Missense_Mutation_p.S72T|MTMR3_ENST00000333027.3_Missense_Mutation_p.S208T	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	208	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GAACTGGAAAGTGTATCAAGT	0.507																																						dbGAP											0			22											119	106	111					22																	30398934		2203	4300	6503	28728934	SO:0001583	missense	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"Zinc fingers, FYVE domain containing", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.623G>C	22.37:g.30398934G>C	ENSP00000384651:p.Ser208Thr	41	0	0					28728934	113	41.92	83	A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	HMMPfam_FYVE,HMMSmart_SM00064,HMMSmart_SM00404,HMMPfam_Myotub-related,superfamily_FYVE/PHD zinc finger,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II	p.S208T	ENST00000401950.2	37	c.623	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935151	0.52866	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62;-2.62	5.7	5.7	0.88788	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.077325	0.85682	D	0.000000	D	0.90448	0.7009	N	0.25286	0.73	0.53005	D	0.99996	D;B;D	0.58970	0.984;0.034;0.984	P;B;P	0.56042	0.79;0.18;0.79	D	0.91150	0.4952	10	0.54805	T	0.06	.	18.8247	0.92114	0.0:0.0:1.0:0.0	.	208;208;208	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	T	208;208;72;208;208	ENSP00000384651:S208T;ENSP00000331649:S208T;ENSP00000318070:S72T;ENSP00000307271:S208T;ENSP00000384077:S208T	ENSP00000318070:S72T	S	+	2	0	MTMR3	28728934	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.652000	0.54439	2.694000	0.91930	0.467000	0.42956	AGT	-	HMMPfam_Myotub-related,superfamily_(Phosphotyrosine protein) phosphatases II		0.507	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	protein_coding	OTTHUMT00000322066.1	G	NM_021090		28728934	1	no_errors	NM_021090.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	30398934	G	C	30398934	3	2	24	1	0	0	0	0	1	0	0	0	9945	1029	36	4	649	4	MTMR3	22	30398934	Missense_Mutation	SNP	G	TCGA-AB-2827-03B-01W-0728-08		30398934	20905632	14	286											
ARHGEF19	128272	genome.wustl.edu	37	1	16525645	16525645	+	Splice_Site	SNP	C	C	T			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr1:16525645C>T	ENST00000270747.3	-	15	2387	c.2251G>A	c.(2251-2253)Ggc>Agc	p.G751S	ARHGEF19-AS1_ENST00000457809.1_RNA|ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	751	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCTCACCGTCACTGGTC	0.557																																						dbGAP											0			1											110	86	94					1																	16525645		2203	4300	6503	16398232	SO:0001630	splice_region_variant	0			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"Rho guanine nucleotide exchange factors"	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.2251+1G>A	1.37:g.16525645C>T		161	3.59	6		1	0	0	16398232	204	46.15	180	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like	p.G751S	ENST00000270747.3	37	c.2251	CCDS170.1	1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968306	0.92855	.	.	ENSG00000142632	ENST00000270747	T	0.41400	1.0	4.57	4.57	0.56435	Src homology-3 domain (4);	0.000000	0.64402	D	0.000003	T	0.74779	0.3761	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83567	0.0110	9	.	.	.	.	14.8969	0.70651	0.0:1.0:0.0:0.0	.	751	Q8IW93	ARHGJ_HUMAN	S	751	ENSP00000270747:G751S	.	G	-	1	0	ARHGEF19	16398232	1.000000	0.71417	0.991000	0.47740	0.873000	0.50193	6.399000	0.73248	2.395000	0.81488	0.561000	0.74099	GGC	-	HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain		0.557	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	protein_coding	OTTHUMT00000006289.1	C	NM_153213	Missense_Mutation	16398232	-1	no_errors	NM_153213.3	genbank	human	provisional	54_36p	missense	SNP	0.999	T	T	16525645	C	T	16525645	5	4	25	1	0	0	0	0	0	0	1	0	902	666	23	1	165	1	ARHGEF19	1	16525645	Splice_Site	SNP	C	TCGA-AB-2828-03C-01W-0761-09		16525645	232724976	1	287											
OR2M2	391194	genome.wustl.edu	37	1	248344003	248344003	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr1:248344003C>T	ENST00000359682.2	+	1	716	c.716C>T	c.(715-717)aCg>aTg	p.T239M		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAAGCTTTCACGACCTGTTCC	0.488																																						dbGAP											0			1											198	177	184					1																	248344003		2203	4300	6503	246410626	SO:0001583	missense	0			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"GPCR / Class A : Olfactory receptors"	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.716C>T	1.37:g.248344003C>T	ENSP00000352710:p.Thr239Met	53	5.36	3					246410626	93	50	95	A3KFT4	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.T239M	ENST00000359682.2	37	c.716	CCDS31106.1	1	.	.	.	.	.	.	.	.	.	.	c	10.29	1.308482	0.23821	.	.	ENSG00000198601	ENST00000359682	T	0.00158	8.65	2.03	-0.221	0.13126	GPCR, rhodopsin-like superfamily (1);	1.058580	0.07625	U	0.927660	T	0.00300	0.0009	L	0.51422	1.61	0.09310	N	1	D	0.89917	1.0	D	0.67900	0.954	T	0.51426	-0.8707	10	0.72032	D	0.01	.	5.9397	0.19186	0.0:0.6839:0.1938:0.1223	.	239	Q96R28	OR2M2_HUMAN	M	239	ENSP00000352710:T239M	ENSP00000352710:T239M	T	+	2	0	OR2M2	246410626	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.020000	0.12525	-0.191000	0.10448	-0.396000	0.06452	ACG	-	HMMPfam_7tm_1,superfamily_SSF81321		0.488	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M2	protein_coding	OTTHUMT00000097356.2	C	NM_001004688		246410626	1	no_errors	NM_001004688.1	genbank	human	provisional	54_36p	missense	SNP	0.002	T	T	248344003	C	T	248344003	3	4	25	1	0	0	0	0	1	0	0	0	11010	536	19	1	718	1	OR2M2	1	248344003	Missense_Mutation	SNP	C	TCGA-AB-2828-03C-01W-0761-09	231818358	248344003	906618	2	288											
C2orf34	79823	genome.wustl.edu	37	2	44931441	44931441	+	Silent	SNP	G	G	A			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr2:44931441G>A	ENST00000378494.3	+	4	440	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	132						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						CATCTGAAGAGGTTTTGGCTT	0.343																																						dbGAP											0			2											106	103	104					2																	44931441		2203	4300	6503	44784945	SO:0001819	synonymous_variant	0				CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"CaM KMT"	609559	"chromosome 2 open reading frame 34"	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.396G>A	2.37:g.44931441G>A		119	7.03	9		4	20	1	44784945	112	44.06	89	Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Silent	SNP	HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases	p.E132	ENST00000378494.3	37	c.396	CCDS1820.1	2																																																																																			-	HMMPfam_Methyltransf_16,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.343	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf34	protein_coding	OTTHUMT00000250678.2	G	NM_024766		44784945	1	no_errors	NM_024766.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	44931441	G	A	44931441	2	1	25	1	0	0	0	0	0	0	0	1	2163	991	35	2		2	C2orf34	2	44931441	Silent	SNP	G	TCGA-AB-2828-03C-01W-0761-09		44931441	198267932	3	289											
DYSF	8291	genome.wustl.edu	37	2	71797454	71797454	+	Silent	SNP	C	C	T			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr2:71797454C>T	ENST00000258104.3	+	28	3298	c.3021C>T	c.(3019-3021)gtC>gtT	p.V1007V	DYSF_ENST00000409762.1_Silent_p.V1024V|DYSF_ENST00000394120.2_Silent_p.V1008V|DYSF_ENST00000410020.3_Silent_p.V1025V|DYSF_ENST00000409366.1_Silent_p.V1008V|DYSF_ENST00000409651.1_Silent_p.V1039V|DYSF_ENST00000429174.2_Silent_p.V1007V|DYSF_ENST00000410041.1_Silent_p.V1025V|DYSF_ENST00000413539.2_Silent_p.V1038V|DYSF_ENST00000409744.1_Silent_p.V994V|DYSF_ENST00000409582.3_Silent_p.V1024V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1007					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCGGGCTGTCGATGAGCAAG	0.597																																						dbGAP											0			2											77	70	72					2																	71797454		2203	4300	6503	71650962	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3021C>T	2.37:g.71797454C>T		51	0	0		43	17.31	9	71650962	135	18.56	31	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI	p.V1007	ENST00000258104.3	37	c.3021	CCDS1918.1	2																																																																																			-	NULL		0.597	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	C	NM_003494		71650962	1	no_errors	NM_003494.1	genbank	human	reviewed	54_36p	silent	SNP	0.913	T	T	71797454	C	T	71797454	2	4	25	1	0	0	0	0	0	0	0	1	4859	871	31	1		1	DYSF	2	71797454	Silent	SNP	C	TCGA-AB-2828-03C-01W-0761-09	26866013	71797454	171401919	4	290											
PARP14	54625	genome.wustl.edu	37	3	122420027	122420027	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr3:122420027C>G	ENST00000474629.2	+	6	2892	c.2626C>G	c.(2626-2628)Cac>Gac	p.H876D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	876	Macro 1. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCCCTACCACCACGTGATCCA	0.592																																						dbGAP											0			3											29	30	30					3																	122420027		2008	4157	6165	123902717	SO:0001583	missense	0			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"Poly (ADP-ribose) polymerases"	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.2626C>G	3.37:g.122420027C>G	ENSP00000418194:p.His876Asp	58	3.33	2		22	48.84	21	123902717	82	50.6	85	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	HMMPfam_Macro,HMMSmart_SM00506,HMMPfam_PARP,superfamily_Macro domain-like,superfamily_ADP-ribosylation	p.H876D	ENST00000474629.2	37	c.2626	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924411	0.34002	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.23552	1.9	6.06	4.26	0.50523	Appr-1-p processing (3);	0.570215	0.17776	N	0.162413	T	0.40040	0.1101	M	0.85373	2.75	0.09310	N	1	P;P	0.49358	0.886;0.923	P;B	0.46419	0.516;0.433	T	0.34700	-0.9818	10	0.44086	T	0.13	.	12.3031	0.54887	0.0:0.8604:0.0:0.1396	.	876;876	Q460N5-4;Q460N5	.;PAR14_HUMAN	D	876;795	ENSP00000418194:H876D	ENSP00000381228:H795D	H	+	1	0	PARP14	123902717	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.061000	0.11693	0.878000	0.35920	-0.150000	0.13652	CAC	-	HMMPfam_Macro,HMMSmart_SM00506,superfamily_Macro domain-like		0.592	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	protein_coding	OTTHUMT00000356173.2	C	NM_017554		123902717	1	no_errors	NM_017554.2	genbank	human	validated	54_36p	missense	SNP	0.002	G	G	122420027	C	G	122420027	3	3	25	1	0	0	0	0	1	0	0	0	11458	594	21	4	2648	4	PARP14	3	122420027	Missense_Mutation	SNP	C	TCGA-AB-2828-03C-01W-0761-09		122420027	75602403	5	291											
SCARA3	51435	genome.wustl.edu	37	8	27516940	27516940	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr8:27516940G>A	ENST00000301904.3	+	5	1273	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	SCARA3_ENST00000337221.4_Missense_Mutation_p.S418N	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	418					receptor-mediated endocytosis (GO:0006898)|response to oxidative stress (GO:0006979)|UV protection (GO:0009650)	collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GAGCGCTTCAGCCTGCTCAGT	0.587																																						dbGAP											0			8											59	46	50					8																	27516940		2203	4300	6503	27572859	SO:0001583	missense	0			AB007829	CCDS34870.1, CCDS34871.1	8p21	2010-03-24			ENSG00000168077	ENSG00000168077			19000	protein-coding gene	gene with protein product	"macrophage scavenger receptor-like 1"	602728				9747040, 9580669	Standard	NM_182826		Approved	CSR1, CSR, MSLR1, APC7, MSRL1	uc003xga.1	Q6AZY7	OTTHUMG00000163898	ENST00000301904.3:c.1253G>A	8.37:g.27516940G>A	ENSP00000301904:p.Ser418Asn	61	3.17	2					27572859	104	47.24	94	Q9UM15|Q9UM16	Missense_Mutation	SNP	HMMPfam_Collagen	p.S418N	ENST00000301904.3	37	c.1253	CCDS34871.1	8	.	.	.	.	.	.	.	.	.	.	G	13.25	2.182190	0.38511	.	.	ENSG00000168077	ENST00000337221;ENST00000301904	T;D	0.91351	2.51;-2.83	5.83	5.83	0.93111	.	0.454794	0.27876	N	0.017492	D	0.84848	0.5563	N	0.24115	0.695	0.30853	N	0.734341	B;B	0.23735	0.066;0.09	B;B	0.24006	0.05;0.02	T	0.77935	-0.2401	10	0.22706	T	0.39	-11.1613	17.6277	0.88097	0.0:0.0:1.0:0.0	.	418;418	Q6AZY7-2;Q6AZY7	.;SCAR3_HUMAN	N	418	ENSP00000337985:S418N;ENSP00000301904:S418N	ENSP00000301904:S418N	S	+	2	0	SCARA3	27572859	0.978000	0.34361	0.991000	0.47740	0.987000	0.75469	5.110000	0.64622	2.770000	0.95276	0.655000	0.94253	AGC	-	NULL		0.587	SCARA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA3	protein_coding	OTTHUMT00000376258.2	G	NM_016240		27572859	1	no_errors	NM_016240.2	genbank	human	reviewed	54_36p	missense	SNP	0.997	A	A	27516940	G	A	27516940	3	1	25	1	0	0	0	0	1	0	0	0	13879	971	34	2	1271	2	SCARA3	8	27516940	Missense_Mutation	SNP	G	TCGA-AB-2828-03C-01W-0761-09		27516940	118847082	6	292											
MCM10	55388	genome.wustl.edu	37	10	13234451	13234451	+	Splice_Site	SNP	G	G	A			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr10:13234451G>A	ENST00000484800.2	+	13	1734	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	MCM10_ENST00000378694.1_Splice_Site_p.G543E|MCM10_ENST00000378714.3_Splice_Site_p.G543E			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	544					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCTGTTTCAGGGATTATGGGG	0.557																																						dbGAP											0			10											92	89	90					10																	13234451		2203	4300	6503	13274457	SO:0001630	splice_region_variant	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1631-1G>A	10.37:g.13234451G>A		64	7.25	5		12	51.85	14	13274457	82	39.86	55	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	HMMPfam_zf-primase,HMMPfam_Mcm10	p.G544E	ENST00000484800.2	37	c.1631	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	G	6.227	0.409939	0.11812	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.30981	1.51;1.51;1.51	5.24	4.31	0.51392	Replication factor Mcm10 (1);	0.206543	0.49305	D	0.000154	T	0.23766	0.0575	L	0.51422	1.61	0.36667	D	0.878254	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12156	0.007;0.004;0.007	T	0.15925	-1.0420	9	.	.	.	.	5.0334	0.14421	0.1274:0.0:0.6695:0.2031	.	543;543;544	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	E	543;544;544;543	ENSP00000367986:G543E;ENSP00000418268:G544E;ENSP00000367966:G543E	.	G	+	2	0	MCM10	13274457	0.974000	0.33945	0.260000	0.24451	0.043000	0.13939	1.790000	0.38734	1.160000	0.42584	0.643000	0.83706	GGG	-	HMMPfam_Mcm10		0.557	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	protein_coding	OTTHUMT00000356853.1	G	NM_182751	Missense_Mutation	13274457	1	no_errors	NM_182751.3	genbank	human	reviewed	54_36p	missense	SNP	0.733	A	A	13234451	G	A	13234451	5	1	25	1	0	0	0	0	0	0	1	0	9385	1246	43	2	1677	2	MCM10	10	13234451	Splice_Site	SNP	G	TCGA-AB-2828-03C-01W-0761-09		13234451	122300296	7	293											
C12orf11	55726	genome.wustl.edu	37	12	27066475	27066475	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr12:27066475C>A	ENST00000261191.7	-	14	2256	c.1720G>T	c.(1720-1722)Gga>Tga	p.G574*	ASUN_ENST00000539625.1_Nonsense_Mutation_p.G473*	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	574					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTCTTTCTTCCTCGTTTCTTT	0.453																																						dbGAP											0			12											386	358	367					12																	27066475		2203	4300	6503	26957742	SO:0001587	stop_gained	0			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"spermatogenesis associated 30"	615079	"chromosome 12 open reading frame 11", "asunder, spermatogenesis regulator homolog (Drosphila)"	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1720G>T	12.37:g.27066475C>A	ENSP00000261191:p.Gly574*	128	3.03	4		23	30.3	10	26957742	132	45.53	112	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Nonsense_Mutation	SNP	HMMPfam_DUF2151	p.G574*	ENST00000261191.7	37	c.1720	CCDS8708.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.4|29.4	5.000427|5.000427	0.93227|0.93227	.|.	.|.	ENSG00000064102|ENSG00000064102	ENST00000261190|ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745	.|.	.|.	.|.	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.72867|.	0.3514|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.72330|.	-0.4326|.	4|.	0.33141|0.39692	T|T	0.24|0.17	-20.088|-20.088	17.5062|17.5062	0.87746|0.87746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	D|X	70|221;574;473;161	.|.	ENSP00000261190:E70D|ENSP00000261191:G574X	E|G	-|-	3|1	2|0	C12orf11|C12orf11	26957742|26957742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.745000|5.745000	0.68672|0.68672	2.727000|2.727000	0.93392|0.93392	0.591000|0.591000	0.81541|0.81541	GAG|GGA	-	HMMPfam_DUF2151		0.453	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf11	protein_coding	OTTHUMT00000402819.1	C	NM_018164		26957742	-1	no_errors	NM_018164.2	genbank	human	validated	54_36p	nonsense	SNP	1.000	A	A	27066475	C	A	27066475	4	1	25	1	0	0	0	0	0	1	0	0	1675	690	24	4	416	4	C12orf11	12	27066475	Nonsense_Mutation	SNP	C	TCGA-AB-2828-03C-01W-0761-09		27066475	106785420	8	294											
KRT2	3849	genome.wustl.edu	37	12	53045804	53045804	+	Silent	SNP	G	G	A			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr12:53045804G>A	ENST00000309680.3	-	1	144	c.123C>T	c.(121-123)tcC>tcT	p.S41S		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	41	Head.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GGCTCAAGCAGGAGAAGCTGG	0.607																																						dbGAP											0			12											38	41	40					12																	53045804		2203	4300	6503	51332071	SO:0001819	synonymous_variant	0				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"-", "Intermediate filaments type II, keratins (basic)"	6439	protein-coding gene	gene with protein product	"epidermal ichthyosis bullosa of Siemens"	600194	"keratin 2A (epidermal ichthyosis bullosa of Siemens)"	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.123C>T	12.37:g.53045804G>A		23	4.17	1					51332071	38	43.28	29	Q4VAQ2	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.S41	ENST00000309680.3	37	c.123	CCDS8835.1	12																																																																																			-	NULL		0.607	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT2	protein_coding	OTTHUMT00000405704.1	G	NM_000423		51332071	-1	no_errors	NM_000423.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	53045804	G	A	53045804	2	1	25	1	0	0	0	0	0	0	0	1	8457	987	35	2		2	KRT2	12	53045804	Silent	SNP	G	TCGA-AB-2828-03C-01W-0761-09	25979329	53045804	80806091	9	295											
SECISBP2L	9728	genome.wustl.edu	37	15	49301512	49301512	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr15:49301512C>T	ENST00000559471.1	-	14	2191	c.1928G>A	c.(1927-1929)tGt>tAt	p.C643Y	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.C598Y	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	643							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGGTGTCATACAGTATGGAGA	0.433																																						dbGAP											0			15											174	156	162					15																	49301512		2197	4295	6492	47088804	SO:0001583	missense	0			BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.1928G>A	15.37:g.49301512C>T	ENSP00000453854:p.Cys643Tyr	178	4.3	8		18	51.35	19	47088804	178	47.95	164	Q8N767	Missense_Mutation	SNP	HMMPfam_Ribosomal_L7Ae,superfamily_SSF55315	p.C598Y	ENST00000559471.1	37	c.1793	CCDS53942.1	15	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592337	0.86953	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	T	0.72725	-0.68	4.98	4.98	0.66077	.	0.044570	0.85682	D	0.000000	T	0.77075	0.4077	L	0.59436	1.845	0.58432	D	0.999993	D;D	0.65815	0.991;0.995	P;P	0.61201	0.687;0.885	T	0.70784	-0.4778	10	0.02654	T	1	.	18.7888	0.91965	0.0:1.0:0.0:0.0	.	643;598	Q93073;Q93073-2	SBP2L_HUMAN;.	Y	598;643	ENSP00000261847:C598Y	ENSP00000261847:C598Y	C	-	2	0	SECISBP2L	47088804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.069000	0.76755	2.757000	0.94681	0.655000	0.94253	TGT	-	NULL		0.433	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SECISBP2L	protein_coding	OTTHUMT00000417277.1	C	NM_014701		47088804	-1	no_errors	NM_014701.2	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	49301512	C	T	49301512	3	4	25	1	0	0	0	0	1	0	0	0	14007	478	17	2	1397	2	SECISBP2L	15	49301512	Missense_Mutation	SNP	C	TCGA-AB-2828-03C-01W-0761-09		49301512	53229880	10	296											
C19orf46	163183	genome.wustl.edu	37	19	36497458	36497458	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr19:36497458G>A	ENST00000324444.3	-	5	845	c.734C>T	c.(733-735)aCa>aTa	p.T245I	SYNE4_ENST00000340477.5_Missense_Mutation_p.T132I|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_5'Flank	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	245					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CTCCAACTCTGTGGAAGTGGG	0.657																																						dbGAP											0			19											13	15	14					19																	36497458		1842	4079	5921	41189298	SO:0001583	missense	0			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"chromosome 19 open reading frame 46", "deafness, autosomal recessive 76"	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.734C>T	19.37:g.36497458G>A	ENSP00000316130:p.Thr245Ile	68	4.23	3					41189298	41	36.92	24	A8MRS0|A8MYE3|Q7Z7L3	Missense_Mutation	SNP	HMMPfam_KASH	p.T245I	ENST00000324444.3	37	c.734	CCDS42553.1	19	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881777	0.33255	.	.	ENSG00000181392	ENST00000340477;ENST00000324444	T;T	0.32272	1.46;1.62	5.74	1.49	0.22878	.	0.686003	0.15273	N	0.271124	T	0.12774	0.0310	N	0.08118	0	0.21553	N	0.999647	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.13098	-1.0522	10	0.38643	T	0.18	-24.7888	3.9479	0.09356	0.1862:0.0:0.5506:0.2632	.	132;245	Q8N205-2;Q8N205	.;SYNE4_HUMAN	I	132;245	ENSP00000343152:T132I;ENSP00000316130:T245I	ENSP00000316130:T245I	T	-	2	0	C19orf46	41189298	0.984000	0.35163	0.999000	0.59377	0.453000	0.32348	1.720000	0.38022	1.442000	0.47568	0.655000	0.94253	ACA	-	NULL		0.657	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf46	protein_coding	OTTHUMT00000109525.3	G	NM_001039876		41189298	-1	no_errors	NM_001039876.1	genbank	human	validated	54_36p	missense	SNP	0.973	A	A	36497458	G	A	36497458	3	1	25	1	0	0	0	0	1	0	0	0	1929	1377	48	2	496	2	C19orf46	19	36497458	Missense_Mutation	SNP	G	TCGA-AB-2828-03C-01W-0761-09		36497458	22631525	11	297											
FCGBP	8857	genome.wustl.edu	37	19	40376946	40376946	+	Missense_Mutation	SNP	G	G	A	rs139112212		TCGA-AB-2828-03C-01W-0761-09	TCGA-AB-2828-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10851212-f1e2-4d19-a72c-e5b76befbf4e	c216d8ed-38df-4961-96a7-0e8a9184a17d	g.chr19:40376946G>A	ENST00000221347.6	-	24	11483	c.11476C>T	c.(11476-11478)Ccc>Tcc	p.P3826S	FCGBP_ENST00000595713.1_5'UTR	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3826	VWFD 9. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAGAGTCGGGCACCACCTCC	0.642																																						dbGAP											0			19											10	12	11					19																	40376946		2089	4140	6229	45068786	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.11476C>T	19.37:g.40376946G>A	ENSP00000221347:p.Pro3826Ser	23	0	0		3	25	1	45068786	29	9.38	3	O95784	Missense_Mutation	SNP	HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL	p.P3826S	ENST00000221347.6	37	c.11476	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	g	14.59	2.581579	0.46006	.	.	ENSG00000090920	ENST00000221347	T	0.19532	2.14	3.23	2.14	0.27477	von Willebrand factor, type D domain (1);	.	.	.	.	T	0.21468	0.0517	M	0.66939	2.045	0.09310	N	1	B	0.30281	0.275	B	0.32465	0.146	T	0.28933	-1.0028	9	0.08179	T	0.78	.	11.3006	0.49302	0.0:0.1873:0.8127:0.0	.	3826	Q9Y6R7	FCGBP_HUMAN	S	3826	ENSP00000221347:P3826S	ENSP00000221347:P3826S	P	-	1	0	FCGBP	45068786	0.268000	0.24133	0.014000	0.15608	0.004000	0.04260	0.502000	0.22594	0.653000	0.30826	0.313000	0.20887	CCC	-	NULL		0.642	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890		45068786	-1	no_errors	NM_003890.2	genbank	human	validated	54_36p	missense	SNP	0.554	A	A	40376946	G	A	40376946	3	1	25	1	0	0	0	0	1	0	0	0	5778	1203	42	2	4793	2	FCGBP	19	40376946	Missense_Mutation	SNP	G	TCGA-AB-2828-03C-01W-0761-09	3879488	40376946	18752037	12	298											
OBSCN	84033	genome.wustl.edu	37	1	228473959	228473959	+	Missense_Mutation	SNP	T	T	G	rs202022683	byFrequency	TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr1:228473959T>G	ENST00000422127.1	+	34	9229	c.9185T>G	c.(9184-9186)gTg>gGg	p.V3062G	OBSCN_ENST00000570156.2_Missense_Mutation_p.V3491G|OBSCN_ENST00000366709.4_Missense_Mutation_p.V181G|OBSCN_ENST00000366707.4_Missense_Mutation_p.V181G|OBSCN_ENST00000284548.11_Missense_Mutation_p.V3062G|OBSCN_ENST00000359599.6_Missense_Mutation_p.V1909G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3062	Ig-like 30.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTACCACGTGCTGACCCTG	0.662													T|||	36	0.0071885	0.0272	0	5008	,	,		17519	0		0	False		,,,				2504	0					dbGAP											0			1						T	GLY/VAL,GLY/VAL	98,4070		1,96,1987	26	33	31		9185,9185	4.5	1	1	dbSNP_134	31	0,8434		0,0,4217	yes	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	109,109	1,96,6204	GG,GT,TT		0.0,2.3512,0.7777	possibly-damaging,possibly-damaging	3062/7969,3062/6621	228473959	98,12504	2084	4217	6301	226540582	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9185T>G	1.37:g.228473959T>G	ENSP00000409493:p.Val3062Gly	8	0	0					226540582	21	44.74	17	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMSmart_SM00219,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00220,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_Immunoglobulin,superfamily_PH domain-like	p.V3062G	ENST00000422127.1	37	c.9185	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084154	0.76642	0.023512	0.0	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.67	4.49	0.54785	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.638941	0.14451	N	0.318802	T	0.59555	0.2202	M	0.66939	2.045	0.39455	D	0.967471	P;D	0.54207	0.877;0.965	P;P	0.62435	0.818;0.902	T	0.66208	-0.5981	10	0.23891	T	0.37	.	6.0668	0.19868	0.1444:0.0756:0.0:0.7801	.	3062;3062	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	3062;3062;181;181;1909	ENSP00000284548:V3062G;ENSP00000409493:V3062G;ENSP00000355668:V181G;ENSP00000355670:V181G;ENSP00000352613:V1909G	ENSP00000284548:V3062G	V	+	2	0	OBSCN	226540582	0.533000	0.26354	0.959000	0.39883	0.795000	0.44927	1.070000	0.30653	2.155000	0.67459	0.459000	0.35465	GTG	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		T	NM_052843		226540582	1	no_errors	NM_001098623.1	genbank	human	reviewed	54_36p	missense	SNP	0.742	G	G	228473959	T	G	228473959	3	3	26	1	0	0	0	0	1	0	0	0	10812	1696	59	5	9315	5	OBSCN	1	228473959	Missense_Mutation	SNP	T	TCGA-AB-2829-03B-01W-0728-08		228473959	20776662	1	299											
ITPR1	3708	genome.wustl.edu	37	3	4825546	4825546	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr3:4825546G>A	ENST00000443694.2	+	48	6512	c.6512G>A	c.(6511-6513)gGc>gAc	p.G2171D	ITPR1_ENST00000423119.2_Missense_Mutation_p.G2138D|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.G2171D|ITPR1_ENST00000357086.4_Missense_Mutation_p.G2138D|ITPR1_ENST00000456211.2_Missense_Mutation_p.G2123D|ITPR1_ENST00000354582.6_Missense_Mutation_p.G2171D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2186					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AAACCTGGTGGCCAAGTGGAC	0.502																																						dbGAP											0			3											97	99	98					3																	4825546		1996	4190	6186	4800546	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"Ion channels / Inositol triphosphate receptors"	6180	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 94"	147265	"spinocerebellar ataxia 15", "spinocerebellar ataxia 16", "spinocerebellar ataxia 29"	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6512G>A	3.37:g.4825546G>A	ENSP00000401671:p.Gly2171Asp	98	1.01	1					4800546	139	41.25	99	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,superfamily_IP3 receptor type 1 binding core domain 2	p.G2138D	ENST00000443694.2	37	c.6413	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	9.389	1.074971	0.20227	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.90676	-2.71;-2.7;-2.69;-2.69;-2.69;-2.71	5.47	5.47	0.80525	.	0.056340	0.64402	D	0.000001	T	0.80539	0.4642	N	0.11560	0.145	0.80722	D	1	B;B	0.14805	0.011;0.0	B;B	0.13407	0.009;0.003	T	0.75178	-0.3409	10	0.13853	T	0.58	.	14.209	0.65753	0.0:0.0:0.8507:0.1493	.	2186;2138	Q14643;G5E9P1	ITPR1_HUMAN;.	D	2186;2171;2171;2138;632;2138;2123;2171	ENSP00000306253:G2171D;ENSP00000346595:G2171D;ENSP00000405934:G2138D;ENSP00000349597:G2138D;ENSP00000397885:G2123D;ENSP00000401671:G2171D	ENSP00000306253:G2171D	G	+	2	0	ITPR1	4800546	1.000000	0.71417	0.990000	0.47175	0.799000	0.45148	3.084000	0.50143	2.553000	0.86117	0.655000	0.94253	GGC	-	NULL		0.502	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	protein_coding	OTTHUMT00000337982.3	G	NM_002222		4800546	1	no_errors	NM_001099952.1	genbank	human	validated	54_36p	missense	SNP	0.977	A	A	4825546	G	A	4825546	3	1	26	1	0	0	0	0	1	0	0	0	7920	1203	42	2	6751	2	ITPR1	3	4825546	Missense_Mutation	SNP	G	TCGA-AB-2829-03B-01W-0728-08		4825546	193196884	2	300											
CNOT6	57472	genome.wustl.edu	37	5	179994980	179994980	+	Missense_Mutation	SNP	G	G	T	rs143354534		TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr5:179994980G>T	ENST00000393356.1	+	11	1428	c.1004G>T	c.(1003-1005)cGg>cTg	p.R335L	CNOT6_ENST00000261951.4_Missense_Mutation_p.R335L			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	335	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CTAGAACTTCGGAAGGAATCG	0.413																																						dbGAP											0			5						G	LEU/ARG	1,4405	2.1+/-5.4	0,1,2202	147	133	138		1004	5.5	1	5	dbSNP_134	138	0,8600		0,0,4300	no	missense	CNOT6	NM_015455.3	102	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	benign	335/558	179994980	1,13005	2203	4300	6503	179927586	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.1004G>T	5.37:g.179994980G>T	ENSP00000377024:p.Arg335Leu	60	0	0					179927586	63	47.06	56	A7MD46|D3DWR0	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,superfamily_L domain-like	p.R335L	ENST00000393356.1	37	c.1004	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	G	19.85	3.902997	0.72754	2.27E-4	0.0	ENSG00000113300	ENST00000261951;ENST00000393356	T;T	0.34472	1.36;1.36	5.49	5.49	0.81192	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	T	0.23688	0.0573	N	0.14661	0.345	0.80722	D	1	B	0.24483	0.104	B	0.30179	0.112	T	0.08994	-1.0695	9	.	.	.	-6.2753	13.0155	0.58754	0.0738:0.0:0.9262:0.0	.	335	Q9ULM6	CNOT6_HUMAN	L	335	ENSP00000261951:R335L;ENSP00000377024:R335L	.	R	+	2	0	CNOT6	179927586	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.453000	0.66645	2.733000	0.93635	0.655000	0.94253	CGG	-	HMMPfam_Exo_endo_phos,superfamily_DNase I-like		0.413	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	protein_coding	OTTHUMT00000253532.1	G	NM_015455		179927586	1	no_errors	NM_015455.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	179994980	G	T	179994980	3	4	26	1	0	0	0	0	1	0	0	0	3622	1116	39	4	1034	4	CNOT6	5	179994980	Missense_Mutation	SNP	G	TCGA-AB-2829-03B-01W-0728-08		179994980	920280	3	301											
SLC43A1	8501	genome.wustl.edu	37	11	57252654	57252654	+	Missense_Mutation	SNP	T	T	C	rs377101978		TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr11:57252654T>C	ENST00000278426.3	-	15	1950	c.1595A>G	c.(1594-1596)tAt>tGt	p.Y532C	SLC43A1_ENST00000528450.1_Missense_Mutation_p.Y532C	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGCACGGTAATAGAAGAGGTA	0.552																																						dbGAP											0			11											53	50	51					11																	57252654		2201	4296	6497	57009230	SO:0001583	missense	0			AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"Solute carriers"	9225	protein-coding gene	gene with protein product		603733	"prostate cancer overexpressed gene 1"	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1595A>G	11.37:g.57252654T>C	ENSP00000278426:p.Tyr532Cys	33	0	0					57009230	30	46.43	26		Missense_Mutation	SNP	superfamily_MFS general substrate transporter	p.Y532C	ENST00000278426.3	37	c.1595	CCDS7958.1	11	.	.	.	.	.	.	.	.	.	.	T	11.06	1.526835	0.27299	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.59083	0.29;0.29	5.32	2.72	0.32119	Major facilitator superfamily domain, general substrate transporter (1);	0.284658	0.35013	N	0.003502	T	0.42810	0.1219	L	0.39397	1.21	0.33522	D	0.592478	B	0.12630	0.006	B	0.08055	0.003	T	0.46679	-0.9174	10	0.36615	T	0.2	-5.401	6.5226	0.22283	0.1492:0.0858:0.0:0.765	.	532	O75387	LAT3_HUMAN	C	532	ENSP00000278426:Y532C;ENSP00000435673:Y532C	ENSP00000278426:Y532C	Y	-	2	0	SLC43A1	57009230	0.836000	0.29430	0.999000	0.59377	0.977000	0.68977	-0.301000	0.08232	0.869000	0.35703	0.459000	0.35465	TAT	-	superfamily_MFS general substrate transporter		0.552	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC43A1	protein_coding	OTTHUMT00000392541.1	T	NM_003627		57009230	-1	no_errors	NM_003627.4	genbank	human	provisional	54_36p	missense	SNP	0.999	C	C	57252654	T	C	57252654	3	2	26	1	0	0	0	0	1	0	0	0	14632	1406	49	3	88	3	SLC43A1	11	57252654	Missense_Mutation	SNP	T	TCGA-AB-2829-03B-01W-0728-08		57252654	77753862	4	302											
PIWIL4	143689	genome.wustl.edu	37	11	94300736	94300736	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr11:94300736G>C	ENST00000299001.6	+	1	263	c.52G>C	c.(52-54)Gcc>Ccc	p.A18P	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	18					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CAGCCCCAGTGCCACAGAAGT	0.562																																						dbGAP											0			11											60	43	49					11																	94300736		2199	4296	6495	93940384	SO:0001583	missense	0			AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"Argonaute/PIWI family"	18444	protein-coding gene	gene with protein product		610315	"piwi-like 4 (Drosophila)"			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.52G>C	11.37:g.94300736G>C	ENSP00000299001:p.Ala18Pro	22	0	0					93940384	75	36.67	44	B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Missense_Mutation	SNP	HMMPfam_PAZ,HMMPfam_Piwi,superfamily_Ribonuclease H-like,superfamily_PAZ domain	p.A18P	ENST00000299001.6	37	c.52	CCDS31656.1	11	.	.	.	.	.	.	.	.	.	.	g	11.66	1.705240	0.30232	.	.	ENSG00000134627	ENST00000299001	T	0.04156	3.69	4.01	-1.76	0.08006	.	0.937069	0.08806	N	0.891001	T	0.02571	0.0078	N	0.19112	0.55	0.22771	N	0.998754	B	0.06786	0.001	B	0.06405	0.002	T	0.48736	-0.9009	10	0.20519	T	0.43	-2.0357	1.2567	0.01993	0.2025:0.3138:0.3197:0.164	.	18	Q7Z3Z4	PIWL4_HUMAN	P	18	ENSP00000299001:A18P	ENSP00000299001:A18P	A	+	1	0	PIWIL4	93940384	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	0.202000	0.17295	-0.112000	0.11979	0.555000	0.69702	GCC	-	NULL		0.562	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL4	protein_coding	OTTHUMT00000396388.1	G	NM_152431		93940384	1	no_errors	NM_152431.2	genbank	human	validated	54_36p	missense	SNP	0.000	C	C	94300736	G	C	94300736	3	2	26	1	0	0	0	0	1	0	0	0	11960	1319	46	4	54	4	PIWIL4	11	94300736	Missense_Mutation	SNP	G	TCGA-AB-2829-03B-01W-0728-08	37048082	94300736	40705780	5	303											
RPL4	6124	genome.wustl.edu	37	15	66794244	66794244	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr15:66794244C>T	ENST00000307961.6	-	5	520	c.428G>A	c.(427-429)cGt>cAt	p.R143H	RPL4_ENST00000568588.1_Missense_Mutation_p.R49H|SNORD18A_ENST00000363753.1_RNA|SNORD18C_ENST00000362704.1_RNA|SNORD16_ENST00000362803.1_RNA|SNORD18B_ENST00000365659.1_RNA	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	143					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCCTCAATACGATGACCTAA	0.338																																						dbGAP											0			15											56	53	54					15																	66794244		2201	4299	6500	64581298	SO:0001583	missense	0			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"L ribosomal proteins"	10353	protein-coding gene	gene with protein product	"60S ribosomal protein L4"	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.428G>A	15.37:g.66794244C>T	ENSP00000311430:p.Arg143His	28	0	0					64581298	126	32.09	60	A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	HMMPfam_Ribosomal_L4,superfamily_Ribosomal protein L4,PatternScan_RIBOSOMAL_L1E,PatternScan_ALDEHYDE_DEHYDR_GLU	p.R143H	ENST00000307961.6	37	c.428	CCDS10218.1	15	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939979	0.73557	.	.	ENSG00000174444	ENST00000307961;ENST00000432669	.	.	.	5.1	5.1	0.69264	Ribosomal protein L4 domain (2);	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	M	0.81497	2.545	0.80722	D	1	B;B	0.27559	0.001;0.181	B;B	0.24006	0.003;0.05	T	0.70011	-0.4989	9	0.44086	T	0.13	-8.9727	18.7444	0.91787	0.0:1.0:0.0:0.0	.	143;143	B4DFI6;P36578	.;RL4_HUMAN	H	143	.	ENSP00000311430:R143H	R	-	2	0	RPL4	64581298	1.000000	0.71417	0.977000	0.42913	0.992000	0.81027	7.389000	0.79806	2.652000	0.90054	0.655000	0.94253	CGT	-	HMMPfam_Ribosomal_L4,superfamily_Ribosomal protein L4		0.338	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL4	protein_coding	OTTHUMT00000256903.2	C	NM_000968		64581298	-1	no_errors	NM_000968.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	66794244	C	T	66794244	3	4	26	1	0	0	0	0	1	0	0	0	13595	536	19	1	879	1	RPL4	15	66794244	Missense_Mutation	SNP	C	TCGA-AB-2829-03B-01W-0728-08		66794244	35737148	6	304											
NTRK3	4916	genome.wustl.edu	37	15	88670420	88670420	+	Silent	SNP	G	G	A			TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr15:88670420G>A	ENST00000360948.2	-	11	1427	c.1266C>T	c.(1264-1266)acC>acT	p.T422T	NTRK3_ENST00000558676.1_Silent_p.T414T|NTRK3_ENST00000557856.1_Silent_p.T414T|NTRK3_ENST00000542733.2_Silent_p.T324T|NTRK3_ENST00000355254.2_Silent_p.T422T|NTRK3_ENST00000357724.2_Silent_p.T414T|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000317501.3_Silent_p.T422T|NTRK3_ENST00000540489.2_Silent_p.T422T|NTRK3_ENST00000394480.2_Silent_p.T422T	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	422					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGGTTTGTGGGTCACAGTGA	0.483			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"neurotrophic tyrosine kinase, receptor, type 3"		"E, M"	0			15											127	108	114					15																	88670420		2201	4299	6500	86471424	SO:0001819	synonymous_variant	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"Immunoglobulin superfamily / I-set domain containing"	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1266C>T	15.37:g.88670420G>A		141	0	0					86471424	221	23.18	67	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_LRR_1,PatternScan_RECEPTOR_TYR_KIN_II,HMMSmart_SM00220,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_Immunoglobulin,superfamily_L domain-like	p.T422	ENST00000360948.2	37	c.1266	CCDS32322.1	15																																																																																			-	NULL		0.483	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	protein_coding		G			86471424	-1	no_errors	NM_001012338.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	88670420	G	A	88670420	2	1	26	1	0	0	0	0	0	0	0	1	10708	1219	43	2		2	NTRK3	15	88670420	Silent	SNP	G	TCGA-AB-2829-03B-01W-0728-08	21876176	88670420	13860972	7	305											
TP53	7157	genome.wustl.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr17:7577100T>C	ENST00000269305.4	-	8	1027	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000420246.2_Missense_Mutation_p.R280G|TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1631151}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGCCGGTCTCTCCCAGGACAG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	54	Substitution - Missense(20)|Deletion - In frame(8)|Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Unknown(2)	upper_aerodigestive_tract(11)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(5)|lung(5)|urinary_tract(4)|breast(4)|bone(4)|stomach(3)|ovary(3)|liver(3)|large_intestine(2)|oesophagus(2)|thymus(1)	17											76	66	69					17																	7577100		2203	4300	6503	7517825	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.838A>G	17.37:g.7577100T>C	ENSP00000269305:p.Arg280Gly	182	0.54	1					7517825	189	33.1	95	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.R280G	ENST00000269305.4	37	c.838	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	21.1	4.099805	0.76983	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99876	0.9941	M	0.92649	3.33	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.996	D;D;D;D	0.97110	0.984;1.0;0.984;0.977	D	0.96385	0.9284	10	0.87932	D	0	-21.0303	12.9367	0.58319	0.0:0.0:0.0:1.0	.	280;280;280;280	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	280;280;280;280;280;269;148	ENSP00000352610:R280G;ENSP00000269305:R280G;ENSP00000398846:R280G;ENSP00000391127:R280G;ENSP00000391478:R280G;ENSP00000425104:R148G	ENSP00000269305:R280G	R	-	1	2	TP53	7517825	0.650000	0.27331	1.000000	0.80357	0.981000	0.71138	0.781000	0.26774	2.154000	0.67381	0.379000	0.24179	AGA	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7517825	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	0.997	C	C	7577100	T	C	7577100	3	2	26	1	0	0	0	0	1	0	0	0	16378	1559	54	3	448	3	TP53	17	7577100	Missense_Mutation	SNP	T	TCGA-AB-2829-03B-01W-0728-08		7577100	73618110	8	306											
TP53	7157	genome.wustl.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	T			TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr17:7577609C>T	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGAGCCAACCTAGGAGATAA	0.527		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	17	GRCh37	CS011061	TP53	S							89	75	80					17																	7577609		2203	4300	6503	7518334	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-1G>A	17.37:g.7577609C>T		258	0.77	2					7518334	233	34.44	124	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e6-1	ENST00000269305.4	37	c.673-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808655	0.70797	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.	-	-		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	Intron	7518334	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	splice_site	SNP	0.990	T	T	7577609	C	T	7577609	5	4	26	1	0	0	0	0	0	0	1	0	16378	695	24	2	618	2	TP53	17	7577609	Splice_Site	SNP	C	TCGA-AB-2829-03B-01W-0728-08	509	7577609	73617601	9	307											
HSPA13	6782	genome.wustl.edu	37	21	15745969	15745969	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2829-03B-01W-0728-08	TCGA-AB-2829-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3628d9c6-ef9a-480a-97b2-3f2185457880	bba8ed8c-637e-445e-90eb-b288db2e63bb	g.chr21:15745969T>C	ENST00000285667.3	-	5	1452	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	HSPA13_ENST00000544452.1_Missense_Mutation_p.N254S	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	462						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TAAATGCTTATTGGGAATTTC	0.408																																						dbGAP											0			21											42	42	42					21																	15745969		2203	4297	6500	14667840	SO:0001583	missense	0				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"Heat shock proteins / HSP70"	11375	protein-coding gene	gene with protein product		601100	"stress 70 protein chaperone, microsome-associated, 60kD", "stress 70 protein chaperone, microsome-associated, 60kDa"	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1385A>G	21.37:g.15745969T>C	ENSP00000285667:p.Asn462Ser	47	0	0					14667840	216	12.45	31	B2R616|Q8NE40	Missense_Mutation	SNP	HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Actin-like ATPase domain	p.N462S	ENST00000285667.3	37	c.1385	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	T	18.13	3.556295	0.65425	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.10005	4.76;2.92	5.41	4.25	0.50352	.	0.124466	0.49305	U	0.000146	T	0.07098	0.0180	N	0.12182	0.205	0.58432	D	0.999998	B	0.13145	0.007	B	0.09377	0.004	T	0.18023	-1.0350	10	0.87932	D	0	-16.8278	11.6375	0.51213	0.0:0.0701:0.0:0.9299	.	462	P48723	HSP13_HUMAN	S	462;254	ENSP00000285667:N462S;ENSP00000441986:N254S	ENSP00000285667:N462S	N	-	2	0	HSPA13	14667840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.095000	0.64529	0.980000	0.38523	0.533000	0.62120	AAT	-	NULL		0.408	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	protein_coding	OTTHUMT00000157815.1	T			14667840	-1	no_errors	NM_006948.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	15745969	T	C	15745969	3	2	26	1	0	0	0	0	1	0	0	0	7406	1493	52	3	34	3	HSPA13	21	15745969	Missense_Mutation	SNP	T	TCGA-AB-2829-03B-01W-0728-08		15745969	32383926	10	308											
MECR	51102	genome.wustl.edu	37	1	29543130	29543130	+	Missense_Mutation	SNP	T	T	C	rs201700021		TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr1:29543130T>C	ENST00000263702.6	-	2	269	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	MECR_ENST00000373791.3_Missense_Mutation_p.I6V|MECR_ENST00000489248.1_5'UTR			Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	82					fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GATGGATTGATAGGGGCCGCC	0.458													T|||	1	0.000199681	8e-04	0	5008	,	,		19429	0		0	False		,,,				2504	0					dbGAP											0			1											226	228	227					1																	29543130		2203	4300	6503	29415717	SO:0001583	missense	0				CCDS30659.1, CCDS30660.1	1p35.3	2012-09-20			ENSG00000116353	ENSG00000116353	1.3.1.38		19691	protein-coding gene	gene with protein product	"nuclear receptor binding factor 1", "mitochondrial 2-enoyl thioester reductase"	608205				9795230, 12654921	Standard	XM_005245885		Approved	CGI-63, NRBF1, FASN2B	uc001brq.1	Q9BV79	OTTHUMG00000059082	ENST00000263702.6:c.244A>G	1.37:g.29543130T>C	ENSP00000263702:p.Ile82Val	290	1.36	4		15	46.43	13	29415717	59	23.38	18	B3KT72|Q5SYU0|Q5SYU1|Q5SYU2|Q6IBU9|Q9Y373	Missense_Mutation	SNP	superfamily_GroES-like,HMMPfam_ADH_zinc_N,HMMPfam_ADH_N,superfamily_NAD(P)-binding Rossmann-fold domains	p.I82V	ENST00000263702.6	37	c.244	CCDS30659.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	11.39	1.624739	0.28889	.	.	ENSG00000116353	ENST00000373791;ENST00000263702	T;T	0.48201	0.82;0.82	5.87	0.892	0.19230	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.138837	0.64402	N	0.000004	T	0.28532	0.0706	N	0.16233	0.39	0.58432	D	0.999995	B	0.13145	0.007	B	0.30572	0.117	T	0.03673	-1.1014	10	0.20519	T	0.43	.	7.2893	0.26356	0.0:0.4375:0.0:0.5625	.	82	Q9BV79	MECR_HUMAN	V	6;82	ENSP00000362896:I6V;ENSP00000263702:I82V	ENSP00000263702:I82V	I	-	1	0	MECR	29415717	0.998000	0.40836	0.997000	0.53966	0.999000	0.98932	0.568000	0.23623	0.152000	0.19188	0.529000	0.55759	ATC	-	superfamily_GroES-like,HMMPfam_ADH_N		0.458	MECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MECR	protein_coding	OTTHUMT00000130740.1	T	NM_016011		29415717	-1	no_errors	NM_016011.1	genbank	human	validated	54_36p	missense	SNP	0.997	C	C	29543130	T	C	29543130	3	2	27	1	0	0	0	0	1	0	0	0	9424	1406	49	3	913	3	MECR	1	29543130	Missense_Mutation	SNP	T	TCGA-AB-2830-03B-01W-0728-08		29543130	219707491	1	309											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	G	rs147001633	byFrequency	TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr2:25457242C>G	ENST00000264709.3	-	23	2982	c.2645G>C	c.(2644-2646)cGc>cCc	p.R882P	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659P|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882P|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693P|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2											56	51	53					2																	25457242		2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>C	2.37:g.25457242C>G	ENSP00000264709:p.Arg882Pro	155	7.14	12		37	37.7	23	25310746	48	21.31	13	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882P	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	20.8	4.055280	0.75960	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.97402	0.9150	M	0.64170	1.965	0.80722	D	1	P;D	0.76494	0.855;0.999	B;P	0.53954	0.18;0.738	D	0.97884	1.0293	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	P	693;882;882;659	ENSP00000370122:R693P;ENSP00000324375:R882P;ENSP00000264709:R882P;ENSP00000384237:R659P	ENSP00000264709:R882P	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	25457242	C	G	25457242	3	3	27	1	0	0	0	0	1	0	0	0	4676	768	27	4	97	4	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2830-03B-01W-0728-08		25457242	217742131	2	310											
SH3BP4	23677	genome.wustl.edu	37	2	235950773	235950773	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr2:235950773G>A	ENST00000409212.1	+	4	1867	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	SH3BP4_ENST00000344528.4_Missense_Mutation_p.V454M|SH3BP4_ENST00000392011.2_Missense_Mutation_p.V454M			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	454					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CGTGGCTGTCGTGGCCCATGG	0.572																																						dbGAP											0			2											54	51	52					2																	235950773		2203	4300	6503	235615512	SO:0001583	missense	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1360G>A	2.37:g.235950773G>A	ENSP00000386862:p.Val454Met	22	0	0					235615512	50	16.67	10	O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2	p.V454M	ENST00000409212.1	37	c.1360	CCDS2513.1	2	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977341	0.53720	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000409212;ENST00000344528	T;T;T	0.16897	2.31;2.31;2.31	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.43055	0.1230	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.22871	-1.0204	10	0.72032	D	0.01	-8.1114	18.2252	0.89915	0.0:0.0:1.0:0.0	.	454;454	A8K594;Q9P0V3	.;SH3B4_HUMAN	M	454	ENSP00000375867:V454M;ENSP00000386862:V454M;ENSP00000340237:V454M	ENSP00000340237:V454M	V	+	1	0	SH3BP4	235615512	1.000000	0.71417	0.067000	0.19924	0.289000	0.27227	5.493000	0.66899	2.633000	0.89246	0.655000	0.94253	GTG	-	NULL		0.572	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	protein_coding	OTTHUMT00000329763.1	G			235615512	1	no_errors	NM_014521.2	genbank	human	reviewed	54_36p	missense	SNP	0.948	A	A	235950773	G	A	235950773	3	1	27	1	0	0	0	0	1	0	0	0	14246	1145	40	1	1366	1	SH3BP4	2	235950773	Missense_Mutation	SNP	G	TCGA-AB-2830-03B-01W-0728-08	210493531	235950773	7248600	3	311											
THRB	7068	genome.wustl.edu	37	3	24169122	24169122	+	Missense_Mutation	SNP	G	G	A	rs387906515|rs121918689|rs121918697		TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr3:24169122G>A	ENST00000356447.4	-	9	1296	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	THRB_ENST00000396671.2_Missense_Mutation_p.R338W|THRB_ENST00000416420.1_Missense_Mutation_p.R338W|THRB_ENST00000280696.5_Missense_Mutation_p.R353W	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	338	Interaction with NR2F6.|Ligand-binding.		R -> W (in GTHR). {ECO:0000269|PubMed:16804041, ECO:0000269|PubMed:8514853, ECO:0000269|PubMed:8889584}.		female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGCTGGCCCCGTGTCACTGCC	0.532																																					Melanoma(21;896 1043 15021 37958)	dbGAP											0			3	GRCh37	CD910557|CM930706	THRB	D|M	rs121918697						137	129	132					3																	24169122		2203	4300	6503	24144126	SO:0001583	missense	0				CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"Nuclear hormone receptors"	11799	protein-coding gene	gene with protein product	"avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2", "oncogene ERBA2", "generalized resistance to thyroid hormone", "thyroid hormone receptor beta 1"	190160	"thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)", "pituitary resistance to thyroid hormone", "thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.1012C>T	3.37:g.24169122G>A	ENSP00000348827:p.Arg338Trp	117	8.59	11					24144126	86	18.1	19	B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Missense_Mutation	SNP	HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.R338W	ENST00000356447.4	37	c.1012	CCDS2641.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406244	0.83230	.	.	ENSG00000151090	ENST00000396671;ENST00000356447;ENST00000416420;ENST00000280696	D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22	5.97	5.03	0.67393	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000003	D	0.97967	0.9331	M	0.71920	2.185	0.80722	A	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98737	1.0715	9	0.87932	D	0	.	13.8891	0.63726	0.0:0.0:0.7421:0.2579	.	338	P10828	THB_HUMAN	W	338;338;338;353	ENSP00000379904:R338W;ENSP00000348827:R338W;ENSP00000414444:R338W;ENSP00000280696:R353W	ENSP00000280696:R353W	R	-	1	2	THRB	24144126	1.000000	0.71417	0.985000	0.45067	0.997000	0.91878	4.183000	0.58317	2.836000	0.97738	0.655000	0.94253	CGG	-	HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain		0.532	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	THRB	protein_coding	OTTHUMT00000252877.3	G	NM_000461		24144126	-1	no_errors	NM_000461.4	genbank	human	reviewed	54_36p	missense	SNP	0.991	A	A	24169122	G	A	24169122	3	1	27	1	0	0	0	0	1	0	0	0	15872	1144	40	1	381	1	THRB	3	24169122	Missense_Mutation	SNP	G	TCGA-AB-2830-03B-01W-0728-08		24169122	173853308	4	312											
TET2	54790	genome.wustl.edu	37	4	106190863	106190864	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr4:106190863_106190864insG	ENST00000540549.1	+	9	5001_5002	c.4141_4142insG	c.(4141-4143)gccfs	p.A1381fs	TET2_ENST00000380013.4_Frame_Shift_Ins_p.A1381fs|TET2_ENST00000513237.1_Frame_Shift_Ins_p.A1402fs|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1381					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CTGTGCTCATGCCCACAGAGAC	0.5			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4																																								106410313	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4141dupG	4.37:g.106190863_106190863dupG	ENSP00000442788:p.Ala1381fs	30	0	0		12	0	0	106410312	98	0	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	NULL	p.A183fs	ENST00000540549.1	37	c.547_548	CCDS47120.1	4																																																																																			-	NULL		0.5	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	-	NM_017628		106410313	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_ins	INS	1.000:1.000	G	G	106190864	-	G	106190863	7	5	27	1	0	1	1	0	0	0	0	0	15767	1319	46	0	4256	0	TET2	4	106190863	Frame_Shift_Ins	INS	-	TCGA-AB-2830-03B-01W-0728-08		106190863	84963413	5	313											
TET2	54790	genome.wustl.edu	37	4	106193855	106193855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	A	A	A	-	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr4:106193855delA	ENST00000540549.1	+	10	5177	c.4317delA	c.(4315-4317)aaafs	p.K1439fs	TET2_ENST00000380013.4_Frame_Shift_Del_p.K1439fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.K1460fs|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1439					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R1440fs*37(1)|p.K1439fs*9(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGGAGAAAAAACGGAGTGGTG	0.478			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)	4											162	153	156					4																	106193855		692	1591	2283	106413304	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4317delA	4.37:g.106193855delA	ENSP00000442788:p.Lys1439fs	36	0	0		35	0	0	106413304	123	0	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.K241fs	ENST00000540549.1	37	c.723	CCDS47120.1	4																																																																																			-	NULL		0.478	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	A	NM_017628		106413304	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_del	DEL	0.000	-	-	106193855	A	-	106193855	7	5	27	1	0	1	0	1	0	0	0	0	15767	40	2	0	4436	0	TET2	4	106193855	Frame_Shift_Del	DEL	A	TCGA-AB-2830-03B-01W-0728-08	2992	106193855	84960421	6	314											
HIVEP2	3097	genome.wustl.edu	37	6	143093951	143093951	+	Missense_Mutation	SNP	C	C	T	rs201987264		TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr6:143093951C>T	ENST00000367604.1	-	4	2564	c.1925G>A	c.(1924-1926)cGg>cAg	p.R642Q	HIVEP2_ENST00000012134.2_Missense_Mutation_p.R642Q|HIVEP2_ENST00000367603.2_Missense_Mutation_p.R642Q			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	642					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATAGGGTTTCCGACAGACATC	0.453																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0			6						C	GLN/ARG	0,3882		0,0,1941	160	152	155		1925	3.7	1	6		155	2,8270		0,2,4134	yes	missense	HIVEP2	NM_006734.3	43	0,2,6075	TT,TC,CC		0.0242,0.0,0.0165	possibly-damaging	642/2447	143093951	2,12152	1941	4136	6077	143135644	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"Zinc fingers, C2H2-type"	4921	protein-coding gene	gene with protein product	"c-myc intron binding protein 1"	143054	"human immunodeficiency virus type I enhancer-binding protein 2"			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.1925G>A	6.37:g.143093951C>T	ENSP00000356576:p.Arg642Gln	46	7.84	4		18	14.29	3	143135644	62	34.74	33	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.R642Q	ENST00000367604.1	37	c.1925	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279426	0.59758	0.0	2.42E-4	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.11169	2.8;2.8;2.8	5.48	3.7	0.42460	.	0.203292	0.35179	N	0.003390	T	0.04092	0.0114	L	0.60455	1.87	0.26948	N	0.966109	B	0.13145	0.007	B	0.04013	0.001	T	0.32455	-0.9906	10	0.56958	D	0.05	-12.4442	7.2987	0.26408	0.0:0.7142:0.1389:0.147	.	642	P31629	ZEP2_HUMAN	Q	642	ENSP00000356576:R642Q;ENSP00000356575:R642Q;ENSP00000012134:R642Q	ENSP00000012134:R642Q	R	-	2	0	HIVEP2	143135644	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	1.721000	0.38032	0.686000	0.31488	0.655000	0.94253	CGG	-	NULL		0.453	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	protein_coding	OTTHUMT00000042495.1	C			143135644	-1	no_errors	NM_006734.3	genbank	human	provisional	54_36p	missense	SNP	0.983	T	T	143093951	C	T	143093951	3	4	27	1	0	0	0	0	1	0	0	0	7187	652	23	1	5439	1	HIVEP2	6	143093951	Missense_Mutation	SNP	C	TCGA-AB-2830-03B-01W-0728-08		143093951	28021116	7	315											
C10orf18	54906	genome.wustl.edu	37	10	5772585	5772585	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr10:5772585G>A	ENST00000328090.5	+	11	1248	c.623G>A	c.(622-624)cGt>cAt	p.R208H	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	208																	TTAGTAAAGCGTCATTTCCAA	0.413																																						dbGAP											0			10											128	119	122					10																	5772585		1872	4114	5986	5812591	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 18"	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.623G>A	10.37:g.5772585G>A	ENSP00000328426:p.Arg208His	77	0	0		19	48.65	18	5812591	72	22.58	21	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	NULL	p.R208H	ENST00000328090.5	37	c.623	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.678381	0.00751	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.03801	3.8	5.98	-8.14	0.01069	.	1.277740	0.04936	N	0.457827	T	0.01558	0.0050	N	0.00521	-1.4	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49978	-0.8881	10	0.02654	T	1	.	19.832	0.96639	0.3188:0.0:0.6812:0.0	.	208	Q5VWN6	F208B_HUMAN	H	208	ENSP00000328426:R208H	ENSP00000328426:R208H	R	+	2	0	C10orf18	5812591	0.001000	0.12720	0.000000	0.03702	0.093000	0.18481	-0.260000	0.08708	-2.031000	0.00928	-1.412000	0.01120	CGT	-	NULL		0.413	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf18	protein_coding	OTTHUMT00000046571.2	G	NM_017782		5812591	1	no_errors	NM_017782.3	genbank	human	validated	54_36p	missense	SNP	0.005	A	A	5772585	G	A	5772585	3	1	27	1	0	0	0	0	1	0	0	0	1596	1145	40	1	653	1	C10orf18	10	5772585	Missense_Mutation	SNP	G	TCGA-AB-2830-03B-01W-0728-08		5772585	129762162	8	316											
FLT3	2322	genome.wustl.edu	37	13	28608242	28608243	+	In_Frame_Ins	INS	-	-	ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	-	-	-	ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr13:28608242_28608243insACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG	ENST00000241453.7	-	14	1894_1895	c.1813_1814insCCCCCCGAGGGGGTAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGT	c.(1813-1815)ttt>tCCCCCCGAGGGGGTAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTtt	p.604_605insSPRGGNEYFYVDFREYEYDLKWE	FLT3_ENST00000380982.4_In_Frame_Ins_p.604_605insSPRGGNEYFYVDFREYEYDLKWE|FLT3_ENST00000537084.1_In_Frame_Ins_p.604_605insSPRGGNEYFYVDFREYEYDLKWE	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	604					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E604_F605insREYEYDLKWE(1)|p.E604_F605ins15(1)|p.605_606>GSSDNEYFYVDFREYEYDLKWEF(1)|p.E604_F605ins22(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTCTCTTGGAAACTCCCATTTG	0.381			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	4	Insertion - In frame(3)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	13																																								27506243	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1813_1814insCCCCCCGAGGGGGTAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGT	13.37:g.28608242_28608243insACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG	ENSP00000241453:p.Glu604_Phe605insSerProArgGlyGlyAsnGluTyrPheTyrValAspPheArgGluTyrGluTyrAspLeuLysTrpGlu								27506242				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.605in_frame_insSPRGGNEYFYVDFREYEYDLKWE	ENST00000241453.7	37	c.1814_1813	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506243	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG	ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG	28608243	-	ACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTACCCCCTCGGGGGG	28608242	7	5	27	1	0	1	1	0	0	0	0	0	5942	14	1	0	1211	0	FLT3	13	28608242	In_Frame_Ins	INS	-	TCGA-AB-2830-03B-01W-0728-08		28608242	86561636	9	317											
MAPKBP1	23005	genome.wustl.edu	37	15	42104229	42104229	+	Silent	SNP	G	G	A	rs202026599		TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr15:42104229G>A	ENST00000456763.2	+	6	598	c.402G>A	c.(400-402)aaG>aaA	p.K134K	MAPKBP1_ENST00000457542.2_Silent_p.K134K|MAPKBP1_ENST00000221214.6_Silent_p.K134K|MAPKBP1_ENST00000260357.7_Silent_p.K22K|MAPKBP1_ENST00000514566.1_Silent_p.K134K	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	134										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGGAGCACAAGTATGGTGTGG	0.592											OREG0023077	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	g|||	1	0.000199681	8e-04	0	5008	,	,		19792	0		0	False		,,,				2504	0					dbGAP											0			15											157	127	137					15																	42104229		2203	4300	6503	39891521	SO:0001819	synonymous_variant	0			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"WD repeat domain containing"	29536	protein-coding gene	gene with protein product			"mitogen activated protein kinase binding protein 1"			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.402G>A	15.37:g.42104229G>A		260	4.06	11	906	24	57.14	32	39891521	65	33.67	33	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	HMMSmart_SM00320,PatternScan_PTS_HPR_SER,superfamily_WD40 repeat-like,HMMPfam_WD40	p.K134	ENST00000456763.2	37	c.402	CCDS45239.1	15																																																																																			-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.592	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	protein_coding	OTTHUMT00000359745.1	G	NM_014994		39891521	1	no_errors	NM_014994.1	genbank	human	validated	54_36p	silent	SNP	0.999	A	A	42104229	G	A	42104229	2	1	27	1	0	0	0	0	0	0	0	1	9292	1020	36	2		2	MAPKBP1	15	42104229	Silent	SNP	G	TCGA-AB-2830-03B-01W-0728-08		42104229	60427163	10	318											
ABCC11	85320	genome.wustl.edu	37	16	48244997	48244997	+	Silent	SNP	G	G	A	rs139456533		TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr16:48244997G>A	ENST00000394747.1	-	10	1819	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	ABCC11_ENST00000537808.1_Silent_p.I490I|ABCC11_ENST00000394748.1_Silent_p.I490I|ABCC11_ENST00000356608.2_Silent_p.I490I|ABCC11_ENST00000353782.5_Silent_p.I490I	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	490					organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CCCCATTGACGATCCCGGGAC	0.577																																						dbGAP											0			16						G	,,	0,4402		0,0,2201	108	99	102		1470,1470,1470	-9.3	0	16	dbSNP_134	102	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCC11	NM_032583.3,NM_033151.3,NM_145186.2	,,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,,	490/1383,490/1383,490/1345	48244997	2,13000	2201	4300	6501	46802498	SO:0001819	synonymous_variant	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"ATP binding cassette transporters / subfamily C"	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1470C>T	16.37:g.48244997G>A		184	8.42	17					46802498	117	34.27	61	Q8TDJ0|Q96JA6|Q9BX80	Silent	SNP	HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.I490	ENST00000394747.1	37	c.1470	CCDS10732.1	16																																																																																			-	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain		0.577	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	protein_coding	OTTHUMT00000429984.1	G	NM_032583		46802498	-1	no_errors	NM_032583.3	genbank	human	reviewed	54_36p	silent	SNP	0.000	A	A	48244997	G	A	48244997	2	1	27	1	0	0	0	0	0	0	0	1	51	1048	37	1		1	ABCC11	16	48244997	Silent	SNP	G	TCGA-AB-2830-03B-01W-0728-08		48244997	42109756	11	319											
TUBGCP6	85378	genome.wustl.edu	37	22	50671779	50671779	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chr22:50671779A>G	ENST00000248846.5	-	3	1186	c.1082T>C	c.(1081-1083)aTt>aCt	p.I361T	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.I361T			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	361					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACGACCCCAATCAAGACGTT	0.647																																						dbGAP											0			22											109	59	76					22																	50671779		2203	4300	6503	49013906	SO:0001583	missense	0			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"gamma-tubulin complex component 6"	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.1082T>C	22.37:g.50671779A>G	ENSP00000248846:p.Ile361Thr	38	2.56	1		68	42.37	50	49013906	30	28.57	12	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	HMMPfam_Spc97_Spc98	p.I361T	ENST00000248846.5	37	c.1082	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141159	0.77775	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.07567	3.18;3.18	5.69	5.69	0.88448	.	0.771111	0.12746	N	0.442600	T	0.22322	0.0538	L	0.47190	1.495	0.49687	D	0.999811	D;D	0.69078	0.994;0.997	P;D	0.65140	0.902;0.932	T	0.00426	-1.1746	10	0.35671	T	0.21	.	15.6139	0.76750	1.0:0.0:0.0:0.0	.	361;361	B2RWN4;Q96RT7	.;GCP6_HUMAN	T	361	ENSP00000248846:I361T;ENSP00000397387:I361T	ENSP00000248846:I361T	I	-	2	0	TUBGCP6	49013906	1.000000	0.71417	0.088000	0.20740	0.719000	0.41307	9.210000	0.95106	2.171000	0.68590	0.459000	0.35465	ATT	-	HMMPfam_Spc97_Spc98		0.647	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	protein_coding	OTTHUMT00000075004.3	A	NM_020461		49013906	-1	no_errors	NM_020461.3	genbank	human	reviewed	54_36p	missense	SNP	0.999	G	G	50671779	A	G	50671779	3	3	27	1	0	0	0	0	1	0	0	0	16767	101	4	3	4469	3	TUBGCP6	22	50671779	Missense_Mutation	SNP	A	TCGA-AB-2830-03B-01W-0728-08		50671779	632787	12	320											
GYG2	8908	genome.wustl.edu	37	X	2793884	2793884	+	Missense_Mutation	SNP	G	G	A	rs201655808		TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chrX:2793884G>A	ENST00000381163.3	+	10	1447	c.1165G>A	c.(1165-1167)Gtg>Atg	p.V389M	GYG2_ENST00000381161.1_Intron|GYG2_ENST00000398806.3_Missense_Mutation_p.V358M|GYG2_ENST00000338623.5_Missense_Mutation_p.V389M|GYG2_ENST00000542787.1_Intron	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	389					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACTCCTGCCGTGATAACGTG	0.438													G|||	1	0.000264901	0	0.0014	3775	,	,		13009	0		0	False		,,,				2504	0					dbGAP											0			X											118	86	97					X																	2793884		2203	4299	6502	2803884	SO:0001583	missense	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"Glycosyltransferase family 8 domain containing"	4700	protein-coding gene	gene with protein product	"glycogenin glucosyltransferase"	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1165G>A	X.37:g.2793884G>A	ENSP00000370555:p.Val389Met	58	3.33	2					2803884	69	33.01	34	B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	HMMPfam_Glyco_transf_8,superfamily_Nucleotide-diphospho-sugar transferases	p.V389M	ENST00000381163.3	37	c.1165	CCDS14121.1	X	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	G|G	7.529|7.529	0.658320|0.658320	0.14645|0.14645	.|.	.|.	ENSG00000056998|ENSG00000056998	ENST00000381157|ENST00000398806;ENST00000381163;ENST00000338623	.|T;T;T	.|0.43688	.|0.94;1.26;1.18	2.22|2.22	2.22|2.22	0.28083|0.28083	.|.	.|2.079510	.|0.03023	.|N	.|0.151083	T|T	0.28732|0.28732	0.0712|0.0712	N|N	0.14661|0.14661	0.345|0.345	0.21627|0.21627	N|N	0.999614|0.999614	.|D;D;D;D;D	.|0.56521	.|0.976;0.958;0.958;0.976;0.958	.|B;B;B;B;B	.|0.41571	.|0.272;0.36;0.14;0.272;0.14	T|T	0.29971|0.29971	-0.9994|-0.9994	5|10	.|0.42905	.|T	.|0.14	.|.	7.5401|7.5401	0.27733|0.27733	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|389;349;358;358;389	.|O15488-6;O15488-3;A8K8Y1;O15488-2;O15488	.|.;.;.;.;GLYG2_HUMAN	H|M	207|358;389;389	.|ENSP00000381786:V358M;ENSP00000370555:V389M;ENSP00000341273:V389M	.|ENSP00000341273:V389M	R|V	+|+	2|1	0|0	GYG2|GYG2	2803884|2803884	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	0.945000|0.945000	0.29056|0.29056	1.160000|1.160000	0.42584|0.42584	0.508000|0.508000	0.49915|0.49915	CGT|GTG	-	NULL		0.438	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	protein_coding	OTTHUMT00000055645.1	G	NM_003918		2803884	1	no_errors	NM_003918.1	genbank	human	validated	54_36p	missense	SNP	0.001	A	A	2793884	G	A	2793884	3	1	27	1	0	0	0	0	1	0	0	0	6906	1145	40	1	1199	1	GYG2	23	2793884	Missense_Mutation	SNP	G	TCGA-AB-2830-03B-01W-0728-08		2793884	152476676	13	321											
SCML2	10389	genome.wustl.edu	37	X	18343050	18343050	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chrX:18343050C>A	ENST00000251900.4	-	4	298	c.139G>T	c.(139-141)Gct>Tct	p.A47S		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	47					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TCTGAAGGAGCACTTATAGAC	0.378																																					Esophageal Squamous(100;1252 1965 19021 35517)	dbGAP											0			X											127	114	119					X																	18343050		2203	4300	6503	18252971	SO:0001583	missense	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"Sterile alpha motif (SAM) domain containing"	10581	protein-coding gene	gene with protein product		300208	"sex comb on midleg (Drosophila)-like 2"			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.139G>T	X.37:g.18343050C>A	ENSP00000251900:p.Ala47Ser	33	8.11	3		22	0	0	18252971	51	40	34	Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_MBT,HMMSmart_SM00561,superfamily_SAM/Pointed domain,superfamily_Tudor/PWWP/MBT	p.A47S	ENST00000251900.4	37	c.139	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	C	27.6	4.848953	0.91277	.	.	ENSG00000102098	ENST00000251900	T	0.33654	1.4	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75642	-0.3247	10	0.72032	D	0.01	.	17.0152	0.86416	0.0:1.0:0.0:0.0	.	47	Q9UQR0	SCML2_HUMAN	S	47	ENSP00000251900:A47S	ENSP00000251900:A47S	A	-	1	0	SCML2	18252971	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.354000	0.79424	2.023000	0.59567	0.513000	0.50165	GCT	-	HMMSmart_SM00561,superfamily_Tudor/PWWP/MBT		0.378	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	protein_coding	OTTHUMT00000055941.1	C	NM_006089		18252971	-1	no_errors	NM_006089.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	18343050	C	A	18343050	3	1	27	1	0	0	0	0	1	0	0	0	13910	710	25	4	2011	4	SCML2	23	18343050	Missense_Mutation	SNP	C	TCGA-AB-2830-03B-01W-0728-08	15549166	18343050	136927510	14	322											
TBC1D8B	54885	genome.wustl.edu	37	X	106069437	106069437	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chrX:106069437T>A	ENST00000357242.5	+	6	1179	c.1005T>A	c.(1003-1005)aaT>aaA	p.N335K	TBC1D8B_ENST00000481617.2_Missense_Mutation_p.N335K|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.N335K|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.N335K	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	335	GRAM 2.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.N335_Q336insN(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGATGGCAATCAGTGTAGTG	0.348																																						dbGAP											1	Insertion - In frame(1)	breast(1)	X											96	90	92					X																	106069437		2203	4300	6503	105956093	SO:0001583	missense	0			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"EF-hand domain containing"	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.1005T>A	X.37:g.106069437T>A	ENSP00000349781:p.Asn335Lys	19	0	0		4	0	0	105956093	125	19.87	31	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_GRAM,HMMSmart_SM00568,PatternScan_EF_HAND_1,superfamily_EF-hand	p.N335K	ENST00000357242.5	37	c.1005	CCDS14522.1	X	.	.	.	.	.	.	.	.	.	.	T	7.119	0.577609	0.13686	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.65	3.28	0.37604	GRAM (2);	0.344632	0.32624	N	0.005852	T	0.79575	0.4469	L	0.53249	1.67	0.32155	N	0.583713	B;B;B	0.30146	0.015;0.066;0.27	B;B;B	0.31946	0.075;0.063;0.138	T	0.70346	-0.4897	10	0.05959	T	0.93	-9.4821	6.9748	0.24669	0.0:0.2564:0.0:0.7436	.	335;335;335	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	K	335	ENSP00000349781:N335K;ENSP00000310675:N335K;ENSP00000421375:N335K;ENSP00000276175:N335K	ENSP00000276175:N335K	N	+	3	2	TBC1D8B	105956093	0.946000	0.32159	0.384000	0.26145	0.358000	0.29455	0.605000	0.24179	0.765000	0.33221	0.417000	0.27973	AAT	-	HMMPfam_GRAM,HMMSmart_SM00568		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	protein_coding	OTTHUMT00000057807.2	T	NM_017752		105956093	1	no_errors	NM_017752.2	genbank	human	validated	54_36p	missense	SNP	0.976	A	A	106069437	T	A	106069437	3	1	27	1	0	0	0	0	1	0	0	0	15623	1432	50	5	1027	5	TBC1D8B	23	106069437	Missense_Mutation	SNP	T	TCGA-AB-2830-03B-01W-0728-08	87726387	106069437	49201123	15	323											
AIFM1	9131	genome.wustl.edu	37	X	129283541	129283541	+	Silent	SNP	G	G	A			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chrX:129283541G>A	ENST00000287295.3	-	3	482	c.252C>T	c.(250-252)gcC>gcT	p.A84A	AIFM1_ENST00000319908.3_Silent_p.A80A|AIFM1_ENST00000535724.1_5'UTR|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	84					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	TAGTCTTGTAGGCCTGCGGAT	0.378																																						dbGAP											0			X											168	149	156					X																	129283541		2202	4300	6502	129111222	SO:0001819	synonymous_variant	0			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"programmed cell death 8 (apoptosis-inducing factor)", "neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.252C>T	X.37:g.129283541G>A		141	2.08	3		33	0	0	129111222	53	31.17	24	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Silent	SNP	HMMPfam_Pyr_redox_2,superfamily_FAD/NAD-linked reductases dimerisation (C-terminal) domain,superfamily_FAD/NAD(P)-binding domain	p.A84	ENST00000287295.3	37	c.252	CCDS14618.1	X																																																																																			-	NULL		0.378	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM1	protein_coding	OTTHUMT00000058247.2	G			129111222	-1	no_errors	NM_004208.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	129283541	G	A	129283541	2	1	27	1	0	0	0	0	0	0	0	1	426	987	35	2		2	AIFM1	23	129283541	Silent	SNP	G	TCGA-AB-2830-03B-01W-0728-08	23214104	129283541	25987019	16	324											
ATP11C	286410	genome.wustl.edu	37	X	138813876	138813876	+	Silent	SNP	G	G	A			TCGA-AB-2830-03B-01W-0728-08	TCGA-AB-2830-11B-01W-0728-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f72fb885-99dd-486a-8f06-cf886c085f60	303971a6-646d-43e9-aa4c-18a133db1161	g.chrX:138813876G>A	ENST00000327569.3	-	29	3434	c.3336C>T	c.(3334-3336)tcC>tcT	p.S1112S	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000361648.2_Intron	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1112					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGGTCTGGCGGATAATGAGT	0.388																																						dbGAP											0			X											110	96	101					X																	138813876		2203	4299	6502	138641542	SO:0001819	synonymous_variant	0			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"ATPases / P-type"	13554	protein-coding gene	gene with protein product		300516	"ATPase, Class VI, type 11C"			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3336C>T	X.37:g.138813876G>A		62	0	0		4	0	0	138641542	96	13.51	15	Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Silent	SNP	HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.S1112	ENST00000327569.3	37	c.3336	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	G	4.612	0.113812	0.08831	.	.	ENSG00000101974	ENST00000433868	.	.	.	5.44	3.57	0.40892	.	.	.	.	.	T	0.45915	0.1366	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43294	-0.9400	4	.	.	.	.	3.0576	0.06189	0.1005:0.2677:0.4802:0.1516	.	.	.	.	C	145	.	.	R	-	1	0	ATP11C	138641542	0.989000	0.36119	0.985000	0.45067	0.999000	0.98932	2.343000	0.44001	2.433000	0.82419	0.600000	0.82982	CGC	-	NULL		0.388	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	protein_coding	OTTHUMT00000354945.1	G	NM_173694		138641542	-1	no_errors	NM_173694.1	genbank	human	validated	54_36p	silent	SNP	0.956	A	A	138813876	G	A	138813876	2	1	27	1	0	0	0	0	0	0	0	1	1121	1103	39	1		1	ATP11C	23	138813876	Silent	SNP	G	TCGA-AB-2830-03B-01W-0728-08	9530335	138813876	16456684	17	325											
CD109	135228	genome.wustl.edu	37	6	74516567	74516567	+	Splice_Site	SNP	G	G	T			TCGA-AB-2831-03A-01W-0726-08	TCGA-AB-2831-11A-01W-0727-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9eba94fa-673a-44d7-b89a-45c68786815a	30b98565-39a1-44d6-b827-a48d726f57f3	g.chr6:74516567G>T	ENST00000287097.5	+	25	3073	c.2961G>T	c.(2959-2961)tgG>tgT	p.W987C	CD109_ENST00000437994.2_Splice_Site_p.W987C|CD109_ENST00000422508.2_Splice_Site_p.W910C			Q6YHK3	CD109_HUMAN	CD109 molecule	987					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTCATAAAGGTTGTCAGCTT	0.348																																						dbGAP											0			6											39	35	36					6																	74516567		2202	4299	6501	74573288	SO:0001630	splice_region_variant	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"CD molecules"	21685	protein-coding gene	gene with protein product		608859	"CD109 antigen (Gov platelet alloantigens)"			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2961-1G>T	6.37:g.74516567G>T		70	1.41	1					74573288	95	13.51	15	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN	p.W987C	ENST00000287097.5	37	c.2961	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560268	0.65538	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.78003	-1.14;-1.14;-1.14	4.62	4.62	0.57501	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.85682	D	0.000000	D	0.91637	0.7357	H	0.97023	3.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.94172	0.7424	9	.	.	.	.	18.0111	0.89224	0.0:0.0:1.0:0.0	.	910;987;987	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	C	987;910;987	ENSP00000388062:W987C;ENSP00000404475:W910C;ENSP00000287097:W987C	.	W	+	3	0	CD109	74573288	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.915000	0.87484	2.561000	0.86390	0.650000	0.86243	TGG	-	superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp		0.348	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	protein_coding	OTTHUMT00000041230.3	G	NM_133493	Missense_Mutation	74573288	1	no_errors	NM_133493.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	74516567	G	T	74516567	5	4	28	1	0	0	0	0	0	0	1	0	2963	1275	44	4	3059	4	CD109	6	74516567	Splice_Site	SNP	G	TCGA-AB-2831-03A-01W-0726-08		74516567	96598500	1	326											
C10orf28	27291	genome.wustl.edu	37	10	99969120	99969120	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2831-03A-01W-0726-08	TCGA-AB-2831-11A-01W-0727-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9eba94fa-673a-44d7-b89a-45c68786815a	30b98565-39a1-44d6-b827-a48d726f57f3	g.chr10:99969120G>A	ENST00000298999.3	+	5	1552	c.1249G>A	c.(1249-1251)Gga>Aga	p.G417R	R3HCC1L_ENST00000370584.3_Missense_Mutation_p.G417R|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	417							nucleotide binding (GO:0000166)										AAAGTTTGTAGGAATGAGTGC	0.413																																						dbGAP											0			10											144	134	138					10																	99969120		2203	4300	6503	99959110	SO:0001583	missense	0			AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 28"	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.1249G>A	10.37:g.99969120G>A	ENSP00000298999:p.Gly417Arg	61	1.61	1					99959110	148	12.35	21	O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	NULL	p.G417R	ENST00000298999.3	37	c.1249	CCDS31267.1	10	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.217302	0.00286	.	.	ENSG00000166024	ENST00000370584;ENST00000298999	T;T	0.07216	3.21;3.21	5.38	3.5	0.40072	.	1.053340	0.07333	N	0.879540	T	0.07234	0.0183	L	0.29908	0.895	0.21445	N	0.99968	B;B	0.23806	0.091;0.091	B;B	0.20955	0.032;0.018	T	0.38607	-0.9653	9	.	.	.	0.1713	7.6233	0.28197	0.191:0.0:0.809:0.0	.	417;417	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	R	417	ENSP00000359616:G417R;ENSP00000298999:G417R	.	G	+	1	0	C10orf28	99959110	0.029000	0.19370	0.104000	0.21259	0.011000	0.07611	1.933000	0.40153	1.252000	0.44001	0.655000	0.94253	GGA	-	NULL		0.413	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	C10orf28	protein_coding	OTTHUMT00000049764.1	G	NM_014472		99959110	1	no_errors	NM_014472.4	genbank	human	validated	54_36p	missense	SNP	0.028	A	A	99969120	G	A	99969120	3	1	28	1	0	0	0	0	1	0	0	0	1601	1001	35	2	1251	2	C10orf28	10	99969120	Missense_Mutation	SNP	G	TCGA-AB-2831-03A-01W-0726-08		99969120	35565627	2	327											
GJB4	127534	genome.wustl.edu	37	1	35227148	35227148	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr1:35227148G>A	ENST00000339480.1	+	2	663	c.293G>A	c.(292-294)cGc>cAc	p.R98H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	98					cell communication (GO:0007154)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTGGCCTACCGCGAGGAACGC	0.637																																						dbGAP											0			1											86	65	72					1																	35227148		2203	4300	6503	34999735	SO:0001583	missense	0				CCDS383.1	1p35-p34	2008-05-14	2007-11-06		ENSG00000189433	ENSG00000189433		"Ion channels / Gap junction proteins (connexins)"	4286	protein-coding gene	gene with protein product	"connexin 30.3"	605425	"gap junction protein, beta 4 (connexin 30.3)", "gap junction protein, beta 4"				Standard	NM_153212		Approved	CX30.3	uc001bxv.1	Q9NTQ9	OTTHUMG00000004052	ENST00000339480.1:c.293G>A	1.37:g.35227148G>A	ENSP00000345868:p.Arg98His	49	3.92	2					34999735	69	42.15	51	B3KQ82	Missense_Mutation	SNP	HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC	p.R98H	ENST00000339480.1	37	c.293	CCDS383.1	1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423700	0.83559	.	.	ENSG00000189433	ENST00000339480	D	0.99129	-5.46	5.73	4.82	0.62117	Connexin, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98902	0.9628	M	0.77103	2.36	0.42241	D	0.991933	D	0.76494	0.999	P	0.57204	0.815	D	0.99100	1.0843	10	0.52906	T	0.07	.	14.3259	0.66521	0.0717:0.0:0.9283:0.0	.	98	Q9NTQ9	CXB4_HUMAN	H	98	ENSP00000345868:R98H	ENSP00000345868:R98H	R	+	2	0	GJB4	34999735	0.868000	0.29978	0.878000	0.34440	0.479000	0.33129	4.164000	0.58190	1.445000	0.47624	0.655000	0.94253	CGC	-	HMMPfam_Connexin		0.637	GJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJB4	protein_coding	OTTHUMT00000011560.1	G	NM_153212		34999735	1	no_errors	NM_153212.1	genbank	human	validated	54_36p	missense	SNP	0.975	A	A	35227148	G	A	35227148	3	1	29	1	0	0	0	0	1	0	0	0	6410	1087	38	1	295	1	GJB4	1	35227148	Missense_Mutation	SNP	G	TCGA-AB-2832-03B-01W-0728-08		35227148	214023473	1	328											
ZNF394	84124	genome.wustl.edu	37	7	99091249	99091249	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr7:99091249C>T	ENST00000337673.6	-	3	1792	c.1589G>A	c.(1588-1590)tGt>tAt	p.C530Y	ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'Flank|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_3'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	530					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TCTTTCCCCACATTCAAGACA	0.448																																					Ovarian(24;589 697 9939 12704 40742)	dbGAP											0			7											182	177	178					7																	99091249		2203	4300	6503	98929185	SO:0001583	missense	0			BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"Zinc fingers, C2H2-type", "-", "-", "-"	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.1589G>A	7.37:g.99091249C>T	ENSP00000337363:p.Cys530Tyr	281	6.64	20		86	52.22	94	98929185	153	37.9	94	A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.C530Y	ENST00000337673.6	37	c.1589	CCDS5666.1	7	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909213	0.72868	.	.	ENSG00000160908	ENST00000337673	D	0.85861	-2.04	3.58	3.58	0.41010	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000094	D	0.94095	0.8107	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95322	0.8421	10	0.87932	D	0	.	13.493	0.61407	0.0:1.0:0.0:0.0	.	530	Q53GI3	ZN394_HUMAN	Y	530	ENSP00000337363:C530Y	ENSP00000337363:C530Y	C	-	2	0	ZNF394	98929185	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.638000	0.67861	2.292000	0.77174	0.655000	0.94253	TGT	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.448	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF394	protein_coding	OTTHUMT00000336498.1	C	NM_032164		98929185	-1	no_errors	NM_032164.2	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	99091249	C	T	99091249	3	4	29	1	0	0	0	0	1	0	0	0	17877	478	17	2	100	2	ZNF394	7	99091249	Missense_Mutation	SNP	C	TCGA-AB-2832-03B-01W-0728-08		99091249	60047414	2	329											
ZC3HC1	51530	genome.wustl.edu	37	7	129666032	129666032	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr7:129666032C>T	ENST00000358303.4	-	6	826	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A248T|RP11-306G20.1_ENST00000480018.1_RNA|RNA5SP245_ENST00000364239.1_RNA|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A248T|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A227T	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	248					mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein ubiquitination (GO:0016567)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					AGAATACAGGCAGTGACGTGG	0.448																																					Melanoma(115;540 1606 16325 28853 48167)	dbGAP											0			7											210	186	194					7																	129666032		2203	4300	6503	129453268	SO:0001583	missense	0			AF151050	CCDS34753.1, CCDS64767.1, CCDS75659.1	7q32.2	2013-01-17			ENSG00000091732	ENSG00000091732		"Zinc fingers, C3HC-type"	29913	protein-coding gene	gene with protein product	"nuclear interaction partner of ALK"					11042152	Standard	XM_005250403		Approved	NIPA	uc003vpi.3	Q86WB0	OTTHUMG00000157648	ENST00000358303.4:c.742G>A	7.37:g.129666032C>T	ENSP00000351052:p.Ala248Thr	62	6.06	4		13	53.57	15	129453268	47	43.68	38	A6NH66|Q75MF3|Q75MF4|Q8N330|Q96F75|Q9HA34|Q9NVX4|Q9P0R0	Missense_Mutation	SNP	HMMPfam_zf-C3HC	p.A248T	ENST00000358303.4	37	c.742	CCDS34753.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.420231	0.96111	.	.	ENSG00000091732	ENST00000358303;ENST00000360708;ENST00000311873;ENST00000481503	T;T;T;T	0.57273	0.41;0.41;0.41;0.64	6.06	6.06	0.98353	Nuclear-interacting partner of ALK/Rsm1-like (1);	0.000000	0.85682	D	0.000000	T	0.73567	0.3603	M	0.71581	2.175	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.982;0.999;0.998	T	0.73350	-0.4010	10	0.62326	D	0.03	-21.245	19.1921	0.93671	0.0:1.0:0.0:0.0	.	248;248;248	Q86WB0-3;Q86WB0;C9J0I9	.;NIPA_HUMAN;.	T	248;248;227;248	ENSP00000351052:A248T;ENSP00000353933:A248T;ENSP00000309301:A227T;ENSP00000418533:A248T	ENSP00000309301:A227T	A	-	1	0	ZC3HC1	129453268	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.373000	0.66162	2.871000	0.98454	0.655000	0.94253	GCC	-	NULL		0.448	ZC3HC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3HC1	protein_coding	OTTHUMT00000349316.1	C	NM_016478		129453268	-1	no_errors	NM_016478.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	129666032	C	T	129666032	3	4	29	1	0	0	0	0	1	0	0	0	17574	710	25	2	786	2	ZC3HC1	7	129666032	Missense_Mutation	SNP	C	TCGA-AB-2832-03B-01W-0728-08	30574783	129666032	29472631	3	330											
PTAR1	375743	genome.wustl.edu	37	9	72347215	72347215	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr9:72347215G>A	ENST00000340434.4	-	5	485	c.482C>T	c.(481-483)aCc>aTc	p.T161I	PTAR1_ENST00000377200.5_Missense_Mutation_p.T82I	NM_001099666.1	NP_001093136.1	Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	161					protein prenylation (GO:0018342)		protein prenyltransferase activity (GO:0008318)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTTTCCTTTGGTCACAAAGGA	0.483																																						dbGAP											0			9											115	107	110					9																	72347215		1934	4142	6076	71537035	SO:0001583	missense	0			BC053622	CCDS47978.1	9q21.13	2008-10-01			ENSG00000188647	ENSG00000188647		"Prenyltransferase alpha subunit repeat containing"	30449	protein-coding gene	gene with protein product						12477932	Standard	NM_001099666		Approved		uc004ahj.4	Q7Z6K3	OTTHUMG00000019982	ENST00000340434.4:c.482C>T	9.37:g.72347215G>A	ENSP00000344299:p.Thr161Ile	97	6.73	7		7	53.33	8	71537035	97	47.31	88	Q5T7V5|Q5T7V6	Missense_Mutation	SNP	HMMPfam_PPTA,superfamily_Prenyl_trans	p.T161I	ENST00000340434.4	37	c.482	CCDS47978.1	9	.	.	.	.	.	.	.	.	.	.	G	11.91	1.778341	0.31502	.	.	ENSG00000188647	ENST00000377200;ENST00000340434	.	.	.	6.17	1.75	0.24633	Protein prenyltransferase (1);	0.786318	0.12701	N	0.446378	T	0.28034	0.0691	L	0.29908	0.895	0.09310	N	1	B	0.14438	0.01	B	0.12837	0.008	T	0.18777	-1.0326	9	0.37606	T	0.19	-7.4057	6.6672	0.23047	0.0606:0.1715:0.5105:0.2574	.	161	Q7Z6K3	PTAR1_HUMAN	I	82;161	.	ENSP00000344299:T161I	T	-	2	0	PTAR1	71537035	0.954000	0.32549	0.967000	0.41034	0.985000	0.73830	0.142000	0.16096	0.443000	0.26582	0.655000	0.94253	ACC	-	superfamily_Prenyl_trans		0.483	PTAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTAR1	protein_coding	OTTHUMT00000052582.4	G	NM_001099666		71537035	-1	no_errors	NM_001099666.1	genbank	human	validated	54_36p	missense	SNP	0.715	A	A	72347215	G	A	72347215	3	1	29	1	0	0	0	0	1	0	0	0	12724	1261	44	2	742	2	PTAR1	9	72347215	Missense_Mutation	SNP	G	TCGA-AB-2832-03B-01W-0728-08		72347215	68866216	4	331											
PLEKHH1	57475	genome.wustl.edu	37	14	68040536	68040536	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr14:68040536C>T	ENST00000329153.5	+	13	1990	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	620	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CATCCGGAAACCTCAAGGCCA	0.502																																						dbGAP											0			14											87	84	85					14																	68040536		1918	4141	6059	67110289	SO:0001583	missense	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1858C>T	14.37:g.68040536C>T	ENSP00000330278:p.Pro620Ser	100	7.41	8					67110289	114	37.1	69	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	HMMPfam_MyTH4,HMMSmart_SM00139,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like	p.P620S	ENST00000329153.5	37	c.1858	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.165311	0.94768	.	.	ENSG00000054690	ENST00000329153	T	0.15834	2.39	5.14	5.14	0.70334	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.87381	2.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.992;1.0	T	0.57069	-0.7874	10	0.72032	D	0.01	.	18.8052	0.92034	0.0:1.0:0.0:0.0	.	135;620	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	S	620	ENSP00000330278:P620S	ENSP00000330278:P620S	P	+	1	0	PLEKHH1	67110289	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.625000	0.83145	2.676000	0.91093	0.561000	0.74099	CCT	-	HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like		0.502	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	protein_coding	OTTHUMT00000412730.3	C	XM_031054		67110289	1	no_errors	NM_020715.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	68040536	C	T	68040536	3	4	29	1	0	0	0	0	1	0	0	0	12076	507	18	2	1904	2	PLEKHH1	14	68040536	Missense_Mutation	SNP	C	TCGA-AB-2832-03B-01W-0728-08		68040536	39309004	5	332											
VASH1	22846	genome.wustl.edu	37	14	77244360	77244360	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr14:77244360C>T	ENST00000167106.4	+	6	1604	c.971C>T	c.(970-972)tCc>tTc	p.S324F	RP11-488C13.6_ENST00000553507.1_RNA|RP11-488C13.6_ENST00000556368.1_RNA|RP11-488C13.7_ENST00000553758.1_lincRNA|VASH1_ENST00000554743.1_5'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	324	Involved in heparin-binding and antiangiogenic activity.				angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		GATGTTTCTTCCCCGCAGCGG	0.612																																						dbGAP											0			14											28	22	24					14																	77244360		2195	4289	6484	76314113	SO:0001583	missense	0			AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"KIAA1036"	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.971C>T	14.37:g.77244360C>T	ENSP00000167106:p.Ser324Phe	38	5	2		9	55	11	76314113	34	52.05	38	Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	NULL	p.S324F	ENST00000167106.4	37	c.971	CCDS9851.1	14	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931312	0.92389	.	.	ENSG00000071246	ENST00000167106	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.77948	0.4207	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.81289	-0.1000	9	0.87932	D	0	0.1244	17.6214	0.88083	0.0:1.0:0.0:0.0	.	324	Q7L8A9	VASH1_HUMAN	F	324	.	ENSP00000167106:S324F	S	+	2	0	VASH1	76314113	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.487000	0.81328	2.166000	0.68216	0.655000	0.94253	TCC	-	NULL		0.612	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASH1	protein_coding	OTTHUMT00000413706.1	C	NM_014909		76314113	1	no_errors	NM_014909.4	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	77244360	C	T	77244360	3	4	29	1	0	0	0	0	1	0	0	0	17122	855	30	2	993	2	VASH1	14	77244360	Missense_Mutation	SNP	C	TCGA-AB-2832-03B-01W-0728-08	9203824	77244360	30105180	6	333											
ADPGK	83440	genome.wustl.edu	37	15	73045153	73045153	+	Silent	SNP	A	A	G	rs372281721		TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr15:73045153A>G	ENST00000311669.8	-	7	1113	c.1020T>C	c.(1018-1020)tcT>tcC	p.S340S	ADPGK_ENST00000456471.2_Silent_p.S66S|ADPGK_ENST00000567733.1_5'Flank	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	341	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						AAGAGAGAGAAGAGTGAGGTC	0.507																																						dbGAP											0			15						A		1,3973		0,1,1986	74	72	73		1020	-11.6	0	15		73	0,8332		0,0,4166	no	coding-synonymous	ADPGK	NM_031284.4		0,1,6152	GG,GA,AA		0.0,0.0252,0.0081		340/497	73045153	1,12305	1987	4166	6153	70832206	SO:0001819	synonymous_variant	0			AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1020T>C	15.37:g.73045153A>G		64	4.48	3		114	52.3	125	70832206	83	41.67	60	Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Silent	SNP	HMMPfam_ADP_PFK_GK,superfamily_SSF53613	p.S340	ENST00000311669.8	37	c.1020	CCDS42057.1	15																																																																																			-	HMMPfam_ADP_PFK_GK,superfamily_SSF53613		0.507	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPGK	protein_coding	OTTHUMT00000420434.1	A	NM_031284		70832206	-1	no_errors	NM_031284.4	genbank	human	validated	54_36p	silent	SNP	0.316	G	G	73045153	A	G	73045153	2	3	29	1	0	0	0	0	0	0	0	1	330	59	3	3		3	ADPGK	15	73045153	Silent	SNP	A	TCGA-AB-2832-03B-01W-0728-08		73045153	29486239	7	334											
PKD1L2	114780	genome.wustl.edu	37	16	81161616	81161616	+	RNA	SNP	C	C	A			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr16:81161616C>A	ENST00000534142.1	-	0	487				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGGACCCTCACTTGACGAA	0.493																																						dbGAP											0			16											40	38	39					16																	81161616		1973	4158	6131	79719117			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161616C>A		226	5.44	13					79719117	169	44.52	138	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like	p.V2036	ENST00000534142.1	37	c.6108		16																																																																																			-	HMMPfam_PKD_channel		0.493	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	PKD1L2	polymorphic_pseudogene	OTTHUMT00000387969.1	C			79719117	-1	no_errors	ENST00000299598	ensembl	human	known	54_36p	silent	SNP	1.000	A	A	81161616	C	A	81161616	1	1	29	0	1	0	0	0	0	0	0	0	11965	813	29	4		4	PKD1L2	16	81161616	RNA	SNP	C	TCGA-AB-2832-03B-01W-0728-08		81161616	9193137	8	335											
ZNF486	90649	genome.wustl.edu	37	19	20308074	20308074	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr19:20308074A>G	ENST00000335117.8	+	4	612	c.555A>G	c.(553-555)atA>atG	p.I185M	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	185					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						TGAAATATATAGAAGGTGACA	0.303																																						dbGAP											0			19											39	43	41					19																	20308074		2042	4226	6268	20169074	SO:0001583	missense	0			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"Zinc fingers, C2H2-type", "-"	20807	protein-coding gene	gene with protein product			"KRAB domain only 2"	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.555A>G	19.37:g.20308074A>G	ENSP00000335042:p.Ile185Met	57	0	0					20169074	68	46.46	59	Q0VG00	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.I185M	ENST00000335117.8	37	c.555	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	a	4.464	0.085918	0.08583	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.28069	1.63	0.85	-1.7	0.08159	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18882	0.0453	N	0.25286	0.73	0.09310	N	1	B	0.26935	0.164	B	0.33392	0.163	T	0.36890	-0.9729	9	0.66056	D	0.02	.	3.5573	0.07869	0.6649:0.0:0.0:0.3351	.	185	Q96H40	ZN486_HUMAN	M	224;185	ENSP00000335042:I185M	ENSP00000335042:I185M	I	+	3	3	ZNF486	20169074	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-7.274000	0.00040	0.166000	0.19597	0.164000	0.16699	ATA	-	superfamily_SSF57667		0.303	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	protein_coding	OTTHUMT00000447843.2	A	NM_052852		20169074	1	no_errors	NM_052852.2	genbank	human	provisional	54_36p	missense	SNP	0.281	G	G	20308074	A	G	20308074	3	3	29	1	0	0	0	0	1	0	0	0	17936	410	15	3	569	3	ZNF486	19	20308074	Missense_Mutation	SNP	A	TCGA-AB-2832-03B-01W-0728-08		20308074	38820909	9	336											
SREBF2	6721	genome.wustl.edu	37	22	42274026	42274026	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2832-03B-01W-0728-08	TCGA-AB-2832-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6730725-42e7-4f23-a91d-d1c02c2812d0	d61a25b6-8cb0-4519-88fd-2995333f959c	g.chr22:42274026G>A	ENST00000361204.4	+	9	1826	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	554					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAGCGTCTTTGTGAAGCTGCT	0.562																																						dbGAP											0			22											146	138	141					22																	42274026		2203	4300	6503	40603972	SO:0001583	missense	0			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"Basic helix-loop-helix proteins"	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1660G>A	22.37:g.42274026G>A	ENSP00000354476:p.Val554Met	91	6.19	6		59	54.62	71	40603972	79	38.76	50	Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic	p.V554M	ENST00000361204.4	37	c.1660	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700458	0.48307	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.11169	2.8	4.96	2.73	0.32206	.	0.402117	0.28409	N	0.015460	T	0.08626	0.0214	L	0.47190	1.495	0.58432	D	0.999999	B	0.26195	0.144	B	0.18561	0.022	T	0.14868	-1.0457	10	0.54805	T	0.06	-15.8159	4.7295	0.12957	0.2247:0.2024:0.5729:0.0	.	554	Q12772	SRBP2_HUMAN	M	554	ENSP00000354476:V554M	ENSP00000354476:V554M	V	+	1	0	SREBF2	40603972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.087000	0.57671	1.301000	0.44836	0.549000	0.68633	GTG	-	NULL		0.562	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	protein_coding	OTTHUMT00000321956.1	G	NM_004599		40603972	1	no_errors	NM_004599.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	42274026	G	A	42274026	3	1	29	1	0	0	0	0	1	0	0	0	15141	1377	48	2	1694	2	SREBF2	22	42274026	Missense_Mutation	SNP	G	TCGA-AB-2832-03B-01W-0728-08		42274026	9030540	10	337											
CROCC	9696	genome.wustl.edu	37	1	17250900	17250900	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr1:17250900G>A	ENST00000375541.5	+	3	346	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGTCCCGCGTGGAGGACCT	0.657																																						dbGAP											0			1																																								17123487	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"rootletin, ciliary rootlet protein"	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.277G>A	1.37:g.17250900G>A	ENSP00000364691:p.Val93Met	33	5.71	2		2	50	2	17123487	72	25.77	25		Missense_Mutation	SNP	superfamily_Prefoldin	p.V93M	ENST00000375541.5	37	c.277	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.377434	0.42105	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.13089	2.62	4.88	1.8	0.24995	.	.	.	.	.	T	0.12689	0.0308	L	0.47716	1.5	0.28335	N	0.921594	P	0.52170	0.951	B	0.42916	0.402	T	0.13176	-1.0519	9	0.40728	T	0.16	.	7.4177	0.27055	0.0897:0.3265:0.5838:0.0	.	93	Q5TZA2	CROCC_HUMAN	M	93;64	ENSP00000364691:V93M	ENSP00000364691:V93M	V	+	1	0	CROCC	17123487	0.747000	0.28283	0.772000	0.31596	0.986000	0.74619	1.017000	0.29989	0.529000	0.28599	0.591000	0.81541	GTG	-	NULL		0.657	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	protein_coding	OTTHUMT00000006249.2	G	NM_014675		17123487	1	no_errors	NM_014675.3	genbank	human	validated	54_36p	missense	SNP	0.916	A	A	17250900	G	A	17250900	3	1	30	1	0	0	0	0	1	0	0	0	3893	1145	40	1	287	1	CROCC	1	17250900	Missense_Mutation	SNP	G	TCGA-AB-2833-03B-01W-0728-08		17250900	231999721	1	338											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	44	26.23	16		12	67.57	25	25310746	58	51.26	61	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	30	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2833-03B-01W-0728-08		25457242	217742131	2	339											
STXBP5L	9515	genome.wustl.edu	37	3	121097619	121097619	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr3:121097619C>T	ENST00000273666.6	+	22	2576	c.2305C>T	c.(2305-2307)Cgt>Tgt	p.R769C	STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R745C|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R745C|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R769C	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	769					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTCTGGAAAACGTCTTTCTAG	0.463																																						dbGAP											0			3											62	58	59					3																	121097619		1874	4103	5977	122580309	SO:0001583	missense	0			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"WD repeat domain containing"	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.2305C>T	3.37:g.121097619C>T	ENSP00000273666:p.Arg769Cys	105	12.4	15					122580309	48	41.46	34	Q4G1B4|Q6PIC3	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_LLGL,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.R769C	ENST00000273666.6	37	c.2305	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306250	0.60305	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000492541	T;T;T;T	0.64085	1.52;-0.08;-0.08;-0.08	5.07	5.07	0.68467	.	0.254461	0.39210	N	0.001434	T	0.64382	0.2593	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.71674	0.998;0.998	P;P	0.51806	0.68;0.586	T	0.68194	-0.5473	10	0.62326	D	0.03	-11.9652	17.7945	0.88565	0.0:1.0:0.0:0.0	.	745;769	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	C	769;745;745;769	ENSP00000273666:R769C;ENSP00000420019:R745C;ENSP00000419627:R745C;ENSP00000420666:R769C	ENSP00000273666:R769C	R	+	1	0	STXBP5L	122580309	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.394000	0.66285	2.514000	0.84764	0.585000	0.79938	CGT	-	NULL		0.463	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	protein_coding	OTTHUMT00000355256.3	C			122580309	1	no_errors	NM_014980.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	121097619	C	T	121097619	3	4	30	1	0	0	0	0	1	0	0	0	15356	536	19	1	2387	1	STXBP5L	3	121097619	Missense_Mutation	SNP	C	TCGA-AB-2833-03B-01W-0728-08		121097619	76924811	3	340											
ADCY5	111	genome.wustl.edu	37	3	123071313	123071313	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr3:123071313G>A	ENST00000462833.1	-	2	2462	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000491190.1_Missense_Mutation_p.A50V|ADCY5_ENST00000309879.5_Missense_Mutation_p.A67V	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	417					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTGGAGCCGCGCCTGGATGCA	0.617																																						dbGAP											0			3											58	58	58					3																	123071313		2203	4300	6503	124554003	SO:0001583	missense	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1250C>T	3.37:g.123071313G>A	ENSP00000419361:p.Ala417Val	58	6.35	4					124554003	43	42.67	32	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1	p.A417V	ENST00000462833.1	37	c.1250	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950086	0.92660	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	T;T;T	0.81330	-1.05;-1.48;-1.47	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	D	0.86108	0.5854	M	0.62154	1.92	0.80722	D	1	P;D	0.71674	0.907;0.998	B;P	0.61328	0.223;0.887	T	0.82317	-0.0517	10	0.16896	T	0.51	.	18.4045	0.90529	0.0:0.0:1.0:0.0	.	417;50	O95622;B3KWA8	ADCY5_HUMAN;.	V	417;50;67	ENSP00000419361:A417V;ENSP00000418537:A50V;ENSP00000308685:A67V	ENSP00000308685:A67V	A	-	2	0	ADCY5	124554003	1.000000	0.71417	0.971000	0.41717	0.946000	0.59487	7.647000	0.83462	2.571000	0.86741	0.561000	0.74099	GCG	-	NULL		0.617	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	protein_coding	OTTHUMT00000355889.4	G	XM_171048		124554003	-1	no_errors	NM_183357.1	genbank	human	validated	54_36p	missense	SNP	0.999	A	A	123071313	G	A	123071313	3	1	30	1	0	0	0	0	1	0	0	0	297	1087	38	1	2615	1	ADCY5	3	123071313	Missense_Mutation	SNP	G	TCGA-AB-2833-03B-01W-0728-08	1973694	123071313	74951117	4	341											
TSGA10IP	254187	genome.wustl.edu	37	11	65715566	65715566	+	RNA	SNP	C	C	T			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr11:65715566C>T	ENST00000532620.1	+	0	1329				TSGA10IP_ENST00000608857.1_RNA			Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						ATGAAACTTTCGTGTCTGCCA	0.562																																						dbGAP											0			11											36	35	36					11																	65715566		1952	4129	6081	65472142			0			AK057442	CCDS66138.1	11q13.1	2014-03-25			ENSG00000175513	ENSG00000175513			26555	protein-coding gene	gene with protein product						14702039	Standard	NM_152762		Approved	FLJ32880, FAM161C	uc001ogk.1	Q3SY00	OTTHUMG00000166753		11.37:g.65715566C>T		143	8.86	14					65472142	107	34.36	56	Q3SXZ9|Q3SY01|Q96M26	Silent	SNP	NULL	p.F366	ENST00000532620.1	37	c.1098		11																																																																																			-	NULL		0.562	TSGA10IP-001	KNOWN	basic	processed_transcript	TSGA10IP	polymorphic_pseudogene	OTTHUMT00000391373.2	C	NM_152762		65472142	1	pseudogene	NM_152762.2	genbank	human	validated	54_36p	silent	SNP	0.005	T	T	65715566	C	T	65715566	1	4	30	0	1	0	0	0	0	0	0	0	16615	883	31	1		1	TSGA10IP	11	65715566	RNA	SNP	C	TCGA-AB-2833-03B-01W-0728-08		65715566	69290950	5	342											
CBFB	865	genome.wustl.edu	37	16	67070608	67070608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr16:67070608C>T	ENST00000290858.6	+	3	493	c.232C>T	c.(232-234)Cga>Tga	p.R78*	CBFB_ENST00000412916.2_Nonsense_Mutation_p.R78*|CBFB_ENST00000561924.2_5'UTR	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	78					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GGGAGAACAGCGACAAACACC	0.433			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"core-binding factor, beta subunit"		L	0			16											87	86	87					16																	67070608		2200	4300	6500	65628109	SO:0001587	stop_gained	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.232C>T	16.37:g.67070608C>T	ENSP00000290858:p.Arg78*	54	12.9	8		20	22.22	6	65628109	37	53.16	42	A8K347|Q13124|Q9HCT2	Nonsense_Mutation	SNP	HMMPfam_CBF_beta,superfamily_CBF_beta	p.R78*	ENST00000290858.6	37	c.232	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	C	38	6.885485	0.97908	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-9.187	17.6063	0.88039	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000290858:R78X	R	+	1	2	CBFB	65628109	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.308000	0.59129	2.563000	0.86464	0.650000	0.86243	CGA	-	HMMPfam_CBF_beta,superfamily_CBF_beta		0.433	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	protein_coding	OTTHUMT00000268843.2	C	NM_001755		65628109	1	no_errors	NM_022845.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	67070608	C	T	67070608	4	4	30	1	0	0	0	0	0	1	0	0	2699	760	27	1	242	1	CBFB	16	67070608	Nonsense_Mutation	SNP	C	TCGA-AB-2833-03B-01W-0728-08		67070608	23284145	6	343											
DNMT1	1786	genome.wustl.edu	37	19	10287990	10287990	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr19:10287990T>A	ENST00000340748.4	-	5	734	c.499A>T	c.(499-501)Atc>Ttc	p.I167F	DNMT1_ENST00000540357.1_Missense_Mutation_p.I167F|DNMT1_ENST00000359526.4_Missense_Mutation_p.I183F			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	167	Interaction with DNMT3B.|Interaction with PCNA.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGAGATGTGATGGTGGTTTGC	0.443																																						dbGAP											0			19											162	144	150					19																	10287990		2203	4300	6503	10148990	SO:0001583	missense	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.499A>T	19.37:g.10287990T>A	ENSP00000345739:p.Ile167Phe	173	12.56	25		97	35.76	54	10148990	64	51.52	68	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_DNA_methylase,HMMPfam_zf-CXXC,HMMPfam_DMAP_binding,PatternScan_C5_MTASE_1,PatternScan_C5_MTASE_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases	p.I167F	ENST00000340748.4	37	c.499	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	t	20.2	3.954973	0.73902	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.35236	1.32;1.58;1.58	5.26	5.26	0.73747	.	0.121243	0.53938	D	0.000051	T	0.49029	0.1533	L	0.47190	1.495	0.39850	D	0.973222	D;D;D	0.76494	0.999;0.999;0.998	D;D;P	0.64776	0.929;0.929;0.852	T	0.49153	-0.8969	10	0.45353	T	0.12	.	11.901	0.52685	0.0:0.0:0.0:1.0	.	167;183;167	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	F	183;167;167;35	ENSP00000352516:I183F;ENSP00000440457:I167F;ENSP00000345739:I167F	ENSP00000345739:I167F	I	-	1	0	DNMT1	10148990	1.000000	0.71417	0.975000	0.42487	0.529000	0.34654	3.793000	0.55484	2.125000	0.65367	0.524000	0.50904	ATC	-	NULL		0.443	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	protein_coding	OTTHUMT00000451166.1	T	NM_001379		10148990	-1	no_errors	NM_001379.1	genbank	human	reviewed	54_36p	missense	SNP	0.993	A	A	10287990	T	A	10287990	3	1	30	1	0	0	0	0	1	0	0	0	4675	1464	51	5	4495	5	DNMT1	19	10287990	Missense_Mutation	SNP	T	TCGA-AB-2833-03B-01W-0728-08		10287990	48840993	7	344											
PTPRT	11122	genome.wustl.edu	37	20	40710553	40710553	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2833-03B-01W-0728-08	TCGA-AB-2833-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6e60054b-790c-4e57-a6cf-e6d166991cf3	8669a6af-fd9d-454a-8a97-87c683093614	g.chr20:40710553C>T	ENST00000373187.1	-	30	4240	c.4241G>A	c.(4240-4242)cGt>cAt	p.R1414H	PTPRT_ENST00000373198.4_Missense_Mutation_p.R1433H|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1413H|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1417H|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1424H|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1423H|PTPRT_ENST00000373201.1_Missense_Mutation_p.R1404H			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1414	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTGTTGTTACGCAGTGTTTT	0.507																																						dbGAP											0			20											186	187	186					20																	40710553		2090	4220	6310	40143967	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4241G>A	20.37:g.40710553C>T	ENSP00000362283:p.Arg1414His	116	14.6	20					40143967	67	48.09	63	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II	p.R1433H	ENST00000373187.1	37	c.4298	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.487204	0.96323	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	D;D;D;D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85;-2.85;-2.85;-2.85	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.97663	0.9234	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98243	1.0489	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1436;1414	O14522-1;O14522	.;PTPRT_HUMAN	H	1413;1414;1417;1423;1436;1424;1404	ENSP00000362286:R1413H;ENSP00000362283:R1414H;ENSP00000362289:R1417H;ENSP00000348408:R1423H;ENSP00000362294:R1436H;ENSP00000362280:R1424H;ENSP00000362297:R1404H	ENSP00000348408:R1423H	R	-	2	0	PTPRT	40143967	1.000000	0.71417	0.040000	0.18447	0.943000	0.58893	7.792000	0.85828	2.884000	0.98904	0.655000	0.94253	CGT	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II		0.507	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	C			40143967	-1	no_errors	NM_133170.5	genbank	human	reviewed	54_36p	missense	SNP	0.836	T	T	40710553	C	T	40710553	3	4	30	1	0	0	0	0	1	0	0	0	12812	536	19	1	92	1	PTPRT	20	40710553	Missense_Mutation	SNP	C	TCGA-AB-2833-03B-01W-0728-08		40710553	22314967	8	345											
FLT3	2322	genome.wustl.edu	37	13	28592640	28592640	+	Missense_Mutation	SNP	A	A	T	rs121913487|rs121913486		TCGA-AB-2834-03B-01W-0728-08	TCGA-AB-2834-11B-01W-0729-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9a081d0d-997c-48b7-9e35-de3c46b1e8ff	e5cfc755-0cb2-4b2c-bff8-08be43173f45	g.chr13:28592640A>T	ENST00000241453.7	-	20	2586	c.2505T>A	c.(2503-2505)gaT>gaA	p.D835E	FLT3_ENST00000380982.4_Missense_Mutation_p.D835E|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.?(23)|p.D835E(11)|p.D835_I836>V(1)|p.D835del(1)|p.R834_D835del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACTCATGATATCTCGAGCCA	0.448			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	37	Unknown(23)|Substitution - Missense(11)|Deletion - In frame(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(37)	13											190	142	158					13																	28592640		2203	4300	6503	27490640	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2505T>A	13.37:g.28592640A>T	ENSP00000241453:p.Asp835Glu	88	12.75	13		120	43.4	92	27490640	131	34.63	71	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835E	ENST00000241453.7	37	c.2505	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381261	0.82792	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.82893	-1.66;-1.66	5.84	-4.76	0.03229	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	N	0.000030	T	0.81650	0.4867	N	0.17922	0.545	0.80722	D	1	D	0.56521	0.976	D	0.67382	0.951	T	0.79933	-0.1594	10	0.87932	D	0	.	16.6884	0.85315	0.3945:0.0:0.6055:0.0	.	835	P36888	FLT3_HUMAN	E	835	ENSP00000241453:D835E;ENSP00000370369:D835E	ENSP00000241453:D835E	D	-	3	2	FLT3	27490640	0.998000	0.40836	0.408000	0.26446	0.936000	0.57629	0.485000	0.22324	-1.493000	0.01835	-0.424000	0.05967	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.448	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	A			27490640	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	0.991	T	T	28592640	A	T	28592640	3	4	31	1	0	0	0	0	1	0	0	0	5942	446	16	5	496	5	FLT3	13	28592640	Missense_Mutation	SNP	A	TCGA-AB-2834-03B-01W-0728-08		28592640	86577238	1	346											
HSPA4	3308	genome.wustl.edu	37	5	132431896	132431896	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AB-2835-03B-01W-0728-08	TCGA-AB-2835-11B-01W-0729-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	498a2e71-576f-472a-a707-fb2fa2293b75	3580555f-6404-4cb1-b43f-a2baddf91340	g.chr5:132431896T>A	ENST00000304858.2	+	14	2046	c.1757T>A	c.(1756-1758)tTa>tAa	p.L586*		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	586				NQLL -> ESAI (in Ref. 5; AAA02807). {ECO:0000305}.	chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATCAGCTATTATGGCAGATA	0.403																																					Colon(114;1299 1588 6063 12302 48757)	dbGAP											0			5											132	114	120					5																	132431896		2203	4300	6503	132459795	SO:0001587	stop_gained	0			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"Heat shock proteins / HSP70"	5237	protein-coding gene	gene with protein product	"hsp70 RY"	601113	"heat shock 70kD protein 4"			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1757T>A	5.37:g.132431896T>A	ENSP00000302961:p.Leu586*	126	18.47	29		55	16.67	11	132459795	90	46.2	79	O95756|Q2TAL4|Q9BUK9	Nonsense_Mutation	SNP	HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_SSF100920,superfamily_SSF100934,superfamily_SSF53067	p.L586*	ENST00000304858.2	37	c.1757	CCDS4166.1	5	.	.	.	.	.	.	.	.	.	.	T	39	7.469768	0.98302	.	.	ENSG00000170606	ENST00000304858	.	.	.	5.29	4.13	0.48395	.	0.400564	0.24846	N	0.035125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-7.0676	8.3594	0.32351	0.0:0.1514:0.0:0.8486	.	.	.	.	X	586	.	ENSP00000302961:L586X	L	+	2	0	HSPA4	132459795	0.688000	0.27680	0.072000	0.20136	0.994000	0.84299	3.906000	0.56340	0.962000	0.38057	0.472000	0.43445	TTA	-	HMMPfam_HSP70,superfamily_SSF100920		0.403	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	protein_coding	OTTHUMT00000251011.1	T	NM_002154, NM_198431		132459795	1	no_errors	NM_002154.3	genbank	human	validated	54_36p	nonsense	SNP	0.003	A	A	132431896	T	A	132431896	4	1	32	1	0	0	0	0	0	1	0	0	7412	1764	61	5	1811	5	HSPA4	5	132431896	Nonsense_Mutation	SNP	T	TCGA-AB-2835-03B-01W-0728-08		132431896	48483364	1	347											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2835-03B-01W-0728-08	TCGA-AB-2835-11B-01W-0729-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	498a2e71-576f-472a-a707-fb2fa2293b75	3580555f-6404-4cb1-b43f-a2baddf91340	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	32	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2835-03B-01W-0728-08	38405651	170837547	10077713	2	348											
KLRK1	22914	genome.wustl.edu	37	12	10541397	10541397	+	Missense_Mutation	SNP	G	G	A	rs544134653	byFrequency	TCGA-AB-2835-03B-01W-0728-08	TCGA-AB-2835-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	498a2e71-576f-472a-a707-fb2fa2293b75	3580555f-6404-4cb1-b43f-a2baddf91340	g.chr12:10541397G>A	ENST00000240618.6	-	2	153	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	KLRC4-KLRK1_ENST00000539300.1_3'UTR|RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.R5C	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	5					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						CTCCGACCACGAATCCACCCC	0.383													G|||	2	0.000399361	0	0	5008	,	,		15582	0		0	False		,,,				2504	0.002					dbGAP											0			12											101	92	95					12																	10541397		2203	4300	6503	10432664	SO:0001583	missense	0			AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"Killer cell lectin-like receptors", "CD molecules"	18788	protein-coding gene	gene with protein product		611817	"DNA segment on chromosome 12 (unique) 2489 expressed sequence"	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.13C>T	12.37:g.10541397G>A	ENSP00000240618:p.Arg5Cys	132	13.16	20		0	100	1	10432664	86	38.46	55	A8K7K5|A8K7P4|Q9NR41	Missense_Mutation	SNP	HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like	p.R5C	ENST00000240618.6	37	c.13	CCDS8623.1	12	.	.	.	.	.	.	.	.	.	.	G	12.97	2.096609	0.36952	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	T;T	0.02032	4.49;4.49	3.62	0.797	0.18654	.	1.108170	0.06929	N	0.810797	T	0.06142	0.0159	L	0.46157	1.445	0.09310	N	0.999999	B;D	0.89917	0.417;1.0	B;P	0.58928	0.053;0.848	T	0.41378	-0.9512	10	0.87932	D	0	.	5.7336	0.18053	0.353:0.0:0.647:0.0	.	5;5	Q8WZ67;P26718	.;NKG2D_HUMAN	C	5	ENSP00000240618:R5C;ENSP00000446003:R5C	ENSP00000240618:R5C	R	-	1	0	KLRK1	10432664	0.001000	0.12720	0.010000	0.14722	0.012000	0.07955	0.638000	0.24674	0.168000	0.19655	-0.170000	0.13304	CGT	-	NULL		0.383	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRK1	protein_coding	OTTHUMT00000400269.1	G	NM_007360		10432664	-1	no_errors	NM_007360.2	genbank	human	reviewed	54_36p	missense	SNP	0.003	A	A	10541397	G	A	10541397	3	1	32	1	0	0	0	0	1	0	0	0	8423	1058	37	1	665	1	KLRK1	12	10541397	Missense_Mutation	SNP	G	TCGA-AB-2835-03B-01W-0728-08		10541397	123310498	3	349											
OLFML3	56944	genome.wustl.edu	37	1	114522185	114522185	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2836-03B-01W-0728-08	TCGA-AB-2836-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ba5e0b1b-e965-4176-97b4-cbca27098c8c	76f5942c-84ce-4ed0-9268-83e787908977	g.chr1:114522185C>T	ENST00000320334.4	+	1	121	c.47C>T	c.(46-48)tCg>tTg	p.S16L	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_5'UTR|OLFML3_ENST00000393300.2_5'Flank	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	16					multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGTCATGGTCGGGACCCCTC	0.582											OREG0013687	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			1											100	91	94					1																	114522185		2203	4300	6503	114323708	SO:0001583	missense	0			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.47C>T	1.37:g.114522185C>T	ENSP00000322273:p.Ser16Leu	182	0	0	1458				114323708	159	15.34	29	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.S16L	ENST00000320334.4	37	c.47	CCDS870.1	1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.886233	0.33348	.	.	ENSG00000116774	ENST00000320334	D	0.87029	-2.2	5.93	-0.789	0.10935	.	1.204060	0.05512	N	0.560380	T	0.45637	0.1352	N	0.02539	-0.55	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33394	-0.9870	10	0.24483	T	0.36	.	5.911	0.19029	0.0:0.5086:0.1221:0.3693	.	16	Q9NRN5	OLFL3_HUMAN	L	16	ENSP00000322273:S16L	ENSP00000322273:S16L	S	+	2	0	OLFML3	114323708	0.000000	0.05858	0.001000	0.08648	0.978000	0.69477	-0.132000	0.10467	-0.396000	0.07703	0.561000	0.74099	TCG	-	NULL		0.582	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	protein_coding	OTTHUMT00000033119.1	C	NM_020190		114323708	1	no_errors	NM_020190.2	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	114522185	C	T	114522185	3	4	33	1	0	0	0	0	1	0	0	0	10859	893	31	1	49	1	OLFML3	1	114522185	Missense_Mutation	SNP	C	TCGA-AB-2836-03B-01W-0728-08		114522185	134728436	1	350											
IKZF4	64375	genome.wustl.edu	37	12	56417486	56417486	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2836-03B-01W-0728-08	TCGA-AB-2836-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ba5e0b1b-e965-4176-97b4-cbca27098c8c	76f5942c-84ce-4ed0-9268-83e787908977	g.chr12:56417486C>T	ENST00000262032.5	+	6	486	c.119C>T	c.(118-120)cCg>cTg	p.P40L	IKZF4_ENST00000548601.1_Intron|IKZF4_ENST00000431367.2_Intron|IKZF4_ENST00000547167.1_Missense_Mutation_p.P40L|IKZF4_ENST00000547791.1_Intron			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	40					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTGTGTTCCGGATTTCTTG	0.448																																						dbGAP											0			12											93	92	92					12																	56417486		1861	4093	5954	54703753	SO:0001583	missense	0			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.119C>T	12.37:g.56417486C>T	ENSP00000262032:p.Pro40Leu	172	0	0		3	25	1	54703753	121	14.08	20	Q96JP3	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.P40L	ENST00000262032.5	37	c.119	CCDS44917.1	12	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123998	0.56613	.	.	ENSG00000123411	ENST00000262032;ENST00000547167	T;T	0.09255	3.0;3.0	5.55	4.64	0.57946	.	.	.	.	.	T	0.05868	0.0153	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36625	-0.9740	9	0.33940	T	0.23	9.1784	10.5562	0.45118	0.0:0.911:0.0:0.089	.	40	Q9H2S9	IKZF4_HUMAN	L	40	ENSP00000262032:P40L;ENSP00000448419:P40L	ENSP00000262032:P40L	P	+	2	0	IKZF4	54703753	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.651000	0.37302	2.885000	0.99019	0.655000	0.94253	CCG	-	NULL		0.448	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF4	protein_coding	OTTHUMT00000407590.1	C	NM_022465		54703753	1	no_errors	NM_022465.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	56417486	C	T	56417486	3	4	33	1	0	0	0	0	1	0	0	0	7617	652	23	1	125	1	IKZF4	12	56417486	Missense_Mutation	SNP	C	TCGA-AB-2836-03B-01W-0728-08		56417486	77434409	2	351											
FLT3	2322	genome.wustl.edu	37	13	28608267	28608268	+	In_Frame_Ins	INS	-	-	TTCTCTGAAATCAACGTAGAAGTACTCATTATC			TCGA-AB-2836-03B-01W-0728-08	TCGA-AB-2836-11B-01W-0729-08	-	-	-	TTCTCTGAAATCAACGTAGAAGTACTCATTATC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ba5e0b1b-e965-4176-97b4-cbca27098c8c	76f5942c-84ce-4ed0-9268-83e787908977	g.chr13:28608267_28608268insTTCTCTGAAATCAACGTAGAAGTACTCATTATC	ENST00000241453.7	-	14	1869_1870	c.1788_1789insGATAATGAGTACTTCTACGTTGATTTCAGAGAA	c.(1786-1791)gaatat>gaaGATAATGAGTACTTCTACGTTGATTTCAGAGAAtat	p.595_596insEDNEYFYVDFR	FLT3_ENST00000537084.1_In_Frame_Ins_p.595_596insEDNEYFYVDFR|FLT3_ENST00000380982.4_In_Frame_Ins_p.595_596insEDNEYFYVDFR	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	595	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E596_Y597ins12(3)|p.595_596>DNEYFYVDFR(1)|p.R595_E596insDFYVDFR(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTCATATTCTCTGAAAT	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Insertion - In frame(4)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506268	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1756_1788dupGATAATGAGTACTTCTACGTTGATTTCAGAGAA	13.37:g.28608267_28608268insTTCTCTGAAATCAACGTAGAAGTACTCATTATC	ENSP00000241453:p.Arg595_Glu596insGluAspAsnGluTyrPheTyrValAspPheArg								27506267				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.596in_frame_insDNEYFYVDFRE	ENST00000241453.7	37	c.1789_1788	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506268	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.789:0.794	TTCTCTGAAATCAACGTAGAAGTACTCATTATC	TTCTCTGAAATCAACGTAGAAGTACTCATTATC	28608268	-	TTCTCTGAAATCAACGTAGAAGTACTCATTATC	28608267	7	5	33	1	0	1	1	0	0	0	0	0	5942	449	16	0	1236	0	FLT3	13	28608267	In_Frame_Ins	INS	-	TCGA-AB-2836-03B-01W-0728-08		28608267	86561611	3	352											
PADI2	11240	genome.wustl.edu	37	1	17418973	17418973	+	Silent	SNP	G	G	A			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr1:17418973G>A	ENST00000375486.4	-	6	648	c.585C>T	c.(583-585)ccC>ccT	p.P195P	PADI2_ENST00000375481.1_Silent_p.P195P|PADI2_ENST00000444885.2_Intron	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	195					chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327)	calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668)	p.P195Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTATCCGGCGGGGAGGCGGT	0.537																																						dbGAP											1	Substitution - Missense(1)	lung(1)	1											92	83	86					1																	17418973		2203	4300	6503	17291560	SO:0001819	synonymous_variant	0			AB030176	CCDS177.1	1p35.2-p35.1	2008-02-05			ENSG00000117115	ENSG00000117115	3.5.3.15	"Peptidyl arginine deiminases"	18341	protein-coding gene	gene with protein product		607935				2768262	Standard	NM_007365		Approved	KIAA0994, PDI2	uc001baf.3	Q9Y2J8	OTTHUMG00000002295	ENST00000375486.4:c.585C>T	1.37:g.17418973G>A		94	1.03	1		40	20	10	17291560	47	37.33	28	Q96DA7|Q9UPN2	Silent	SNP	superfamily_Cupredoxin,HMMPfam_PAD,HMMPfam_PAD_N,HMMPfam_PAD_M,superfamily_PAD_central,superfamily_SSF55909	p.P195	ENST00000375486.4	37	c.585	CCDS177.1	1																																																																																			-	HMMPfam_PAD_M,superfamily_PAD_central		0.537	PADI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI2	protein_coding	OTTHUMT00000006624.1	G			17291560	-1	no_errors	NM_007365.2	genbank	human	reviewed	54_36p	silent	SNP	0.011	A	A	17418973	G	A	17418973	2	1	34	1	0	0	0	0	0	0	0	1	11378	1103	39	1		1	PADI2	1	17418973	Silent	SNP	G	TCGA-AB-2838-03A-01W-0726-08		17418973	231831648	1	353											
NRAS	4893	genome.wustl.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	T	A	rs121913255		TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr1:115256528T>A	ENST00000369535.4	-	3	436	c.183A>T	c.(181-183)caA>caT	p.Q61H		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(100)|p.Q61Q(3)|p.Q61L(3)|p.Q61R(2)|p.Q61K(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTTCTTGTCCAGCTG	0.463	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	110	Substitution - Missense(106)|Substitution - coding silent(3)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(48)|skin(43)|soft_tissue(8)|thyroid(6)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|NS(1)	1											180	156	164					1																	115256528		2203	4300	6503	115058051	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.183A>T	1.37:g.115256528T>A	ENSP00000358548:p.Gln61His	95	1.03	1		77	33.62	39	115058051	77	26.85	29	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q61H	ENST00000369535.4	37	c.183	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695276	0.68386	.	.	ENSG00000213281	ENST00000369535	D	0.84146	-1.81	5.08	3.93	0.45458	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.87026	0.6075	H	0.94385	3.53	0.80722	D	1	B	0.30763	0.294	B	0.42087	0.375	D	0.89247	0.3588	10	0.72032	D	0.01	.	5.8174	0.18500	0.0:0.1721:0.0:0.8279	.	61	P01111	RASN_HUMAN	H	61	ENSP00000358548:Q61H	ENSP00000358548:Q61H	Q	-	3	2	NRAS	115058051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.898000	0.28404	2.120000	0.65058	0.533000	0.62120	CAA	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.463	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	T	NM_002524		115058051	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	115256528	T	A	115256528	3	1	34	1	0	0	0	0	1	0	0	0	10640	1606	56	5	398	5	NRAS	1	115256528	Missense_Mutation	SNP	T	TCGA-AB-2838-03A-01W-0726-08	97837555	115256528	133994093	2	354											
PYGO2	90780	genome.wustl.edu	37	1	154931409	154931409	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr1:154931409C>G	ENST00000368457.2	-	3	1238	c.1067G>C	c.(1066-1068)cGt>cCt	p.R356P	PBXIP1_ENST00000542459.1_5'Flank|PBXIP1_ENST00000368465.1_5'Flank|PBXIP1_ENST00000368463.3_5'Flank|PYGO2_ENST00000483463.1_5'Flank|RP11-307C12.12_ENST00000605085.1_RNA|PYGO2_ENST00000368456.1_Missense_Mutation_p.R319P|PBXIP1_ENST00000539880.1_5'Flank|PBXIP1_ENST00000368460.3_5'Flank	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	356					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|developmental growth (GO:0048589)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mammary gland development (GO:0030879)|palate development (GO:0060021)|positive regulation of chromatin binding (GO:0035563)|post-embryonic development (GO:0009791)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|spermatid nucleus differentiation (GO:0007289)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone acetyltransferase regulator activity (GO:0035034)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTGCACTCACGGTGGAACCA	0.592																																					NSCLC(87;357 1460 1955 21029 23522)	dbGAP											0			1											86	67	74					1																	154931409		2203	4300	6503	153198033	SO:0001583	missense	0			BC006132	CCDS1075.1	1q22	2013-10-09	2013-10-09		ENSG00000163348	ENSG00000163348		"Zinc fingers, PHD-type"	30257	protein-coding gene	gene with protein product		606903	"pygopus homolog 2 (Drosophila)"			11988739	Standard	NM_138300		Approved		uc001fft.3	Q9BRQ0	OTTHUMG00000037370	ENST00000368457.2:c.1067G>C	1.37:g.154931409C>G	ENSP00000357442:p.Arg356Pro	93	0	0		28	46.15	24	153198033	25	55.36	31	Q8WYZ4|Q96CY2	Missense_Mutation	SNP	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD	p.R356P	ENST00000368457.2	37	c.1067	CCDS1075.1	1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.950575	0.53186	.	.	ENSG00000163348	ENST00000368457;ENST00000368456	T;T	0.62788	-0.0;-0.0	5.26	4.36	0.52297	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	T	0.59715	0.2214	L	0.31526	0.94	0.58432	D	0.999996	D	0.67145	0.996	D	0.78314	0.991	T	0.67428	-0.5673	10	0.87932	D	0	-8.1881	12.8858	0.58042	0.0:0.9209:0.0:0.0791	.	356	Q9BRQ0	PYGO2_HUMAN	P	356;319	ENSP00000357442:R356P;ENSP00000357441:R319P	ENSP00000357441:R319P	R	-	2	0	PYGO2	153198033	1.000000	0.71417	0.886000	0.34754	0.528000	0.34623	7.651000	0.83577	1.458000	0.47871	-0.136000	0.14681	CGT	-	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_PHD_1,HMMPfam_PHD		0.592	PYGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGO2	protein_coding	OTTHUMT00000090949.1	C	NM_138300		153198033	-1	no_errors	NM_138300.3	genbank	human	validated	54_36p	missense	SNP	0.995	G	G	154931409	C	G	154931409	3	3	34	1	0	0	0	0	1	0	0	0	12864	536	19	4	157	4	PYGO2	1	154931409	Missense_Mutation	SNP	C	TCGA-AB-2838-03A-01W-0726-08	39674881	154931409	94319212	3	355											
SHC1	6464	genome.wustl.edu	37	1	154938214	154938214	+	Silent	SNP	C	C	G	rs61751623	byFrequency	TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr1:154938214C>G	ENST00000368445.5	-	11	1642	c.1428G>C	c.(1426-1428)tcG>tcC	p.S476S	SHC1_ENST00000448116.2_Silent_p.S477S|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000368453.4_Silent_p.S367S|SHC1_ENST00000490667.1_5'UTR|SHC1_ENST00000368449.4_Silent_p.S247S|SHC1_ENST00000606391.1_Silent_p.S277S|SHC1_ENST00000368450.1_Silent_p.S366S	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	476	CH1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCATGGACACCGACTGGGGAG	0.627													C|||	71	0.0141773	0	0.0259	5008	,	,		18964	0.003		0.0368	False		,,,				2504	0.0133				NSCLC(4;32 234 1864 2492 3259 13747 17376)	dbGAP											0			1						C	,,,,	38,4368	40.0+/-72.8	0,38,2165	33	35	34		1431,1098,963,1101,1428	-9.5	0	1	dbSNP_129	34	374,8226	113.9+/-173.9	6,362,3932	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SHC1	NM_001130040.1,NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4	,,,,	6,400,6097	GG,GC,CC		4.3488,0.8625,3.1678	,,,,	477/585,366/474,321/429,367/475,476/584	154938214	412,12594	2203	4300	6503	153204838	SO:0001819	synonymous_variant	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"SH2 domain containing"	10840	protein-coding gene	gene with protein product		600560	"SHC (Src homology 2 domain-containing) transforming protein 1"	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1428G>C	1.37:g.154938214C>G		854	5.65	52		22	55.1	27	153204838	42	44.74	34	B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Silent	SNP	HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like,superfamily_SH2 domain	p.S476	ENST00000368445.5	37	c.1428	CCDS30881.1	1	30	0.013736263736263736	0	0.0	5	0.013812154696132596	1	0.0017482517482517483	24	0.0316622691292876	C	0.055	-1.238169	0.01493	0.008625	0.043488	ENSG00000160691	ENST00000444664	.	.	.	4.76	-9.53	0.00575	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.20605	-1.0270	4	.	.	.	.	11.9871	0.53153	0.0707:0.6974:0.0846:0.1473	rs61751623	.	.	.	R	140	.	.	G	-	1	0	SHC1	153204838	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-2.097000	0.01348	-3.406000	0.00170	-2.729000	0.00130	GGT	-	superfamily_SH2 domain		0.627	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	protein_coding	OTTHUMT00000090781.2	C	NM_183001		153204838	-1	no_errors	NM_183001.1	genbank	human	validated	54_36p	silent	SNP	0.000	G	G	154938214	C	G	154938214	2	3	34	1	0	0	0	0	0	0	0	1	14270	639	23	4		4	SHC1	1	154938214	Silent	SNP	C	TCGA-AB-2838-03A-01W-0726-08	6805	154938214	94312407	4	356											
ARHGEF11	9826	genome.wustl.edu	37	1	156954161	156954161	+	Missense_Mutation	SNP	G	G	A	rs143441387		TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr1:156954161G>A	ENST00000361409.2	-	3	935	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	RN7SL612P_ENST00000497704.2_RNA|ARHGEF11_ENST00000368194.3_Missense_Mutation_p.R65C	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	65	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGAACAATGCGATCCCCACTG	0.552													G|||	1	0.000199681	8e-04	0	5008	,	,		20487	0		0	False		,,,				2504	0					dbGAP											0			1						G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	150	84	106		193,193	4.2	0.4	1	dbSNP_134	106	0,8596		0,0,4298	yes	missense,missense	ARHGEF11	NM_014784.2,NM_198236.1	180,180	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	65/1523,65/1563	156954161	1,13001	2203	4298	6501	155220785	SO:0001583	missense	0			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"Rho guanine nucleotide exchange factors"	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.193C>T	1.37:g.156954161G>A	ENSP00000354644:p.Arg65Cys	160	0	0		5	44.44	4	155220785	76	28.97	31	D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMSmart_RGS,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMSmart_PH,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF50729	p.R65C	ENST00000361409.2	37	c.193	CCDS1162.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	21.4	4.139628	0.77775	2.27E-4	0.0	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.28069	1.63;1.63	5.08	4.16	0.48862	PDZ/DHR/GLGF (4);	0.000000	0.56097	D	0.000024	T	0.35393	0.0930	L	0.41492	1.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.28808	-1.0032	10	0.72032	D	0.01	-16.2905	13.8542	0.63515	0.0:0.0:0.8459:0.1541	.	65;65	O15085;O15085-2	ARHGB_HUMAN;.	C	65	ENSP00000357177:R65C;ENSP00000354644:R65C	ENSP00000354644:R65C	R	-	1	0	ARHGEF11	155220785	1.000000	0.71417	0.367000	0.25926	0.984000	0.73092	3.427000	0.52785	1.338000	0.45544	0.655000	0.94253	CGC	-	HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	protein_coding	OTTHUMT00000098931.1	G	NM_198236		155220785	-1	no_errors	NM_198236.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	156954161	G	A	156954161	3	1	34	1	0	0	0	0	1	0	0	0	896	1058	37	1	4651	1	ARHGEF11	1	156954161	Missense_Mutation	SNP	G	TCGA-AB-2838-03A-01W-0726-08	2015947	156954161	92296460	5	357											
FAM5C	339479	genome.wustl.edu	37	1	190068242	190068242	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr1:190068242G>A	ENST00000367462.3	-	8	1438	c.1207C>T	c.(1207-1209)Cgc>Tgc	p.R403C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R301C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	403					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GACTGGATGCGAGTAAGCCAG	0.453																																						dbGAP											0			1											36	33	34					1																	190068242		2203	4300	6503	188334865	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1207C>T	1.37:g.190068242G>A	ENSP00000356432:p.Arg403Cys	77	1.28	1					188334865	14	42.31	11	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.R403C	ENST00000367462.3	37	c.1207	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317456	0.60524	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.56275	0.47;0.47	5.65	5.65	0.86999	.	0.172417	0.52532	D	0.000073	T	0.61874	0.2382	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.67145	0.996;0.993	P;B	0.50754	0.649;0.446	T	0.65869	-0.6063	10	0.72032	D	0.01	.	17.2216	0.86959	0.0:0.0:1.0:0.0	.	301;403	B7Z260;Q76B58	.;FAM5C_HUMAN	C	403;301	ENSP00000356432:R403C;ENSP00000438022:R301C	ENSP00000356432:R403C	R	-	1	0	FAM5C	188334865	1.000000	0.71417	0.994000	0.49952	0.984000	0.73092	5.615000	0.67702	2.656000	0.90262	0.591000	0.81541	CGC	-	NULL		0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	G	NM_199051		188334865	-1	no_errors	NM_199051.1	genbank	human	provisional	54_36p	missense	SNP	0.986	A	A	190068242	G	A	190068242	3	1	34	1	0	0	0	0	1	0	0	0	5594	1058	37	1	1097	1	FAM5C	1	190068242	Missense_Mutation	SNP	G	TCGA-AB-2838-03A-01W-0726-08	33114081	190068242	59182379	6	358											
FAM5C	339479	genome.wustl.edu	37	1	190250791	190250791	+	Missense_Mutation	SNP	C	C	T	rs144952455		TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr1:190250791C>T	ENST00000367462.3	-	3	557	c.326G>A	c.(325-327)cGc>cAc	p.R109H	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	109	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R109H(1)									TCTTATGTTGCGGAAGAATTC	0.448																																						dbGAP											1	Substitution - Missense(1)	lung(1)	1											88	83	85					1																	190250791		2203	4300	6503	188517414	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.326G>A	1.37:g.190250791C>T	ENSP00000356432:p.Arg109His	62	0	0					188517414	21	38.89	14	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.R109H	ENST00000367462.3	37	c.326	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544177	0.86022	.	.	ENSG00000162670	ENST00000367462	D	0.84589	-1.87	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	N	0.20401	0.57	0.80722	D	1	B	0.21452	0.056	B	0.17433	0.018	T	0.72151	-0.4377	10	0.45353	T	0.12	-6.883	17.7103	0.88319	0.0:1.0:0.0:0.0	.	109	Q76B58	FAM5C_HUMAN	H	109	ENSP00000356432:R109H	ENSP00000356432:R109H	R	-	2	0	FAM5C	188517414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.271000	0.51608	2.787000	0.95880	0.585000	0.79938	CGC	-	HMMPfam_MACPF,HMMSmart_SM00457		0.448	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	C	NM_199051		188517414	-1	no_errors	NM_199051.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	190250791	C	T	190250791	3	4	34	1	0	0	0	0	1	0	0	0	5594	768	27	1	1998	1	FAM5C	1	190250791	Missense_Mutation	SNP	C	TCGA-AB-2838-03A-01W-0726-08	182549	190250791	58999830	7	359											
KLHL18	23276	genome.wustl.edu	37	3	47385201	47385201	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr3:47385201T>C	ENST00000232766.5	+	10	1515	c.1495T>C	c.(1495-1497)Tct>Cct	p.S499P	KLHL18_ENST00000455924.2_Missense_Mutation_p.S387P	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	499										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GATGTACAGCTCTGTGGCAGA	0.652																																						dbGAP											0			3											87	86	86					3																	47385201		2203	4300	6503	47360205	SO:0001583	missense	0			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"Kelch-like", "BTB/POZ domain containing"	29120	protein-coding gene	gene with protein product			"kelch-like 18 (Drosophila)"			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1495T>C	3.37:g.47385201T>C	ENSP00000232766:p.Ser499Pro	112	0	0		13	51.85	14	47360205	67	42.24	49	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB	p.S499P	ENST00000232766.5	37	c.1495	CCDS33749.1	3	.	.	.	.	.	.	.	.	.	.	T	5.404	0.259640	0.10239	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.73575	-0.76;-0.76	5.06	3.89	0.44902	Galactose oxidase, beta-propeller (1);	0.058300	0.64402	D	0.000001	T	0.39886	0.1095	N	0.01003	-1.06	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45454	-0.9260	10	0.02654	T	1	.	11.376	0.49728	0.0:0.0:0.1519:0.8481	.	499	O94889	KLH18_HUMAN	P	499;387	ENSP00000232766:S499P;ENSP00000405585:S387P	ENSP00000232766:S499P	S	+	1	0	KLHL18	47360205	1.000000	0.71417	0.982000	0.44146	0.987000	0.75469	2.520000	0.45554	0.926000	0.37118	0.402000	0.26972	TCT	-	HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain		0.652	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	protein_coding	OTTHUMT00000344493.1	T	NM_025010		47360205	1	no_errors	NM_025010.4	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	47385201	T	C	47385201	3	2	34	1	0	0	0	0	1	0	0	0	8373	1551	54	3	1533	3	KLHL18	3	47385201	Missense_Mutation	SNP	T	TCGA-AB-2838-03A-01W-0726-08		47385201	150637229	8	360											
PLXNB1	5364	genome.wustl.edu	37	3	48451927	48451927	+	Silent	SNP	G	G	A	rs200999356		TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr3:48451927G>A	ENST00000358536.4	-	30	5726	c.5457C>T	c.(5455-5457)gaC>gaT	p.D1819D	PLXNB1_ENST00000358459.4_Silent_p.D1636D|PLXNB1_ENST00000456774.1_Silent_p.D1636D|PLXNB1_ENST00000296440.6_Silent_p.D1819D|PLXNB1_ENST00000448774.2_Silent_p.D430D	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1819					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGACATCCTCGTCAGAAAGAA	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		18533	0		0	False		,,,				2504	0					dbGAP											0			3						G	,	2,4404	4.2+/-10.8	0,2,2201	85	83	84		5457,5457	-5.6	0.8	3		84	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PLXNB1	NM_001130082.1,NM_002673.4	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	1819/2136,1819/2136	48451927	2,13004	2203	4300	6503	48426931	SO:0001819	synonymous_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"Plexins"	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.5457C>T	3.37:g.48451927G>A		72	0	0		1	0	0	48426931	16	40.74	11	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,PatternScan_LIPOCALIN,HMMPfam_TIG,HMMSmart_SM00429,PatternScan_IG_MHC,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat	p.D1819	ENST00000358536.4	37	c.5457	CCDS2765.1	3																																																																																			-	superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl		0.607	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	G	NM_002673		48426931	-1	no_errors	NM_002673.1	genbank	human	validated	54_36p	silent	SNP	0.995	A	A	48451927	G	A	48451927	2	1	34	1	0	0	0	0	0	0	0	1	12123	1136	40	1		1	PLXNB1	3	48451927	Silent	SNP	G	TCGA-AB-2838-03A-01W-0726-08	1066726	48451927	149570503	9	361											
FEZF2	55079	genome.wustl.edu	37	3	62356948	62356948	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr3:62356948T>A	ENST00000283268.3	-	4	1358	c.1064A>T	c.(1063-1065)cAc>cTc	p.H355L	FEZF2_ENST00000486811.1_Missense_Mutation_p.H355L|FEZF2_ENST00000475839.1_Missense_Mutation_p.H355L|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	355					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cerebral cortex GABAergic interneuron migration (GO:0021853)|dendrite development (GO:0016358)|dentate gyrus development (GO:0021542)|forebrain anterior/posterior pattern specification (GO:0021797)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GTAGCCCGCGTGGATGCGGAT	0.557																																					NSCLC(170;1772 2053 12525 15604 23984)	dbGAP											0			3											128	117	120					3																	62356948		2203	4300	6503	62331988	SO:0001583	missense	0			AF064845	CCDS2897.1	3p21.1	2013-01-08	2006-08-15	2006-08-15	ENSG00000153266	ENSG00000153266		"Zinc fingers, C2H2-type"	13506	protein-coding gene	gene with protein product		607414	"zinc finger protein 312"	ZNF312			Standard	NM_018008		Approved	FLJ10142, FKSG36, TOF, FEZL, Zfp312	uc003dli.2	Q8TBJ5	OTTHUMG00000158705	ENST00000283268.3:c.1064A>T	3.37:g.62356948T>A	ENSP00000283268:p.His355Leu	98	0	0					62331988	52	38.82	33	A8K349|Q9BZ91|Q9NWB9	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.H355L	ENST00000283268.3	37	c.1064	CCDS2897.1	3	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683897	0.68157	.	.	ENSG00000153266	ENST00000486811;ENST00000283268;ENST00000475839	D;D;D	0.81908	-1.55;-1.55;-1.55	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94532	0.8239	H	0.97440	4.005	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.96283	0.9208	10	0.87932	D	0	-24.4704	16.635	0.85050	0.0:0.0:0.0:1.0	.	355	Q8TBJ5	FEZF2_HUMAN	L	355	ENSP00000418589:H355L;ENSP00000283268:H355L;ENSP00000418804:H355L	ENSP00000283268:H355L	H	-	2	0	FEZF2	62331988	1.000000	0.71417	1.000000	0.80357	0.342000	0.28953	8.040000	0.89188	2.330000	0.79161	0.477000	0.44152	CAC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.557	FEZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF2	protein_coding	OTTHUMT00000351813.1	T	NM_018008		62331988	-1	no_errors	NM_018008.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	62356948	T	A	62356948	3	1	34	1	0	0	0	0	1	0	0	0	5826	1696	59	5	323	5	FEZF2	3	62356948	Missense_Mutation	SNP	T	TCGA-AB-2838-03A-01W-0726-08	13905021	62356948	135665482	10	362											
C6orf211	79624	genome.wustl.edu	37	6	151775782	151775782	+	Silent	SNP	C	C	T			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr6:151775782C>T	ENST00000367294.3	+	2	400	c.141C>T	c.(139-141)caC>caT	p.H47H	C6orf211_ENST00000545879.1_Intron|C6orf211_ENST00000483931.1_3'UTR|RMND1_ENST00000367303.4_5'Flank	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	47										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTGAGAAACACGGAGAGGTAA	0.264																																						dbGAP											0			6											86	88	87					6																	151775782		2202	4296	6498	151817475	SO:0001819	synonymous_variant	0			AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.141C>T	6.37:g.151775782C>T		87	0	0		8	46.67	7	151817475	52	31.58	24	Q96FC6|Q9UFY5	Silent	SNP	HMMPfam_DUF89,superfamily_DUF89	p.H47	ENST00000367294.3	37	c.141	CCDS5233.1	6																																																																																			-	HMMPfam_DUF89,superfamily_DUF89		0.264	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf211	protein_coding	OTTHUMT00000042724.1	C	NM_024573		151817475	1	no_errors	NM_024573.1	genbank	human	predicted	54_36p	silent	SNP	1.000	T	T	151775782	C	T	151775782	2	4	34	1	0	0	0	0	0	0	0	1	2354	535	19	1		1	C6orf211	6	151775782	Silent	SNP	C	TCGA-AB-2838-03A-01W-0726-08		151775782	19339285	11	363											
CUL1	8454	genome.wustl.edu	37	7	148454181	148454181	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr7:148454181A>G	ENST00000325222.4	+	4	701	c.422A>G	c.(421-423)aAt>aGt	p.N141S	CUL1_ENST00000602748.1_Missense_Mutation_p.N141S|CUL1_ENST00000409469.1_Missense_Mutation_p.N141S	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GCCTACCTCAATAGACATTGG	0.353																																						dbGAP											0			7											128	125	126					7																	148454181		2203	4300	6503	148085114	SO:0001583	missense	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.422A>G	7.37:g.148454181A>G	ENSP00000326804:p.Asn141Ser	73	0	0		10	82.46	47	148085114	17	71.67	43	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_"Winged helix" DNA-binding domain	p.N141S	ENST00000325222.4	37	c.422	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524425	0.85600	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.79033	-1.23;-1.23	5.26	5.26	0.73747	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87140	0.6103	M	0.93328	3.405	0.80722	D	1	D	0.53312	0.959	P	0.49853	0.624	D	0.90835	0.4719	10	0.87932	D	0	-17.2431	15.4723	0.75449	1.0:0.0:0.0:0.0	.	141	Q13616	CUL1_HUMAN	S	141;141;99;68	ENSP00000387160:N141S;ENSP00000326804:N141S	ENSP00000326804:N141S	N	+	2	0	CUL1	148085114	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.006000	0.93592	2.128000	0.65567	0.528000	0.53228	AAT	-	HMMPfam_Cullin,superfamily_Cullin repeat		0.353	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	protein_coding	OTTHUMT00000467785.1	A	NM_003592		148085114	1	no_errors	NM_003592.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	148454181	A	G	148454181	3	3	34	1	0	0	0	0	1	0	0	0	4054	101	4	3	432	3	CUL1	7	148454181	Missense_Mutation	SNP	A	TCGA-AB-2838-03A-01W-0726-08		148454181	10684482	12	364											
OGDHL	55753	genome.wustl.edu	37	10	50966567	50966567	+	Silent	SNP	G	G	A			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr10:50966567G>A	ENST00000374103.4	-	2	157	c.72C>T	c.(70-72)gtC>gtT	p.V24V	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Silent_p.V24V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	24					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAAACACCGGGACGTCATGTG	0.622																																						dbGAP											0			10											49	48	48					10																	50966567		2203	4300	6503	50636573	SO:0001819	synonymous_variant	0			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.72C>T	10.37:g.50966567G>A		36	0	0					50636573	20	28.57	8	A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	HMMPfam_E1_dh,HMMPfam_Transket_pyr,superfamily_SSF52518	p.V24	ENST00000374103.4	37	c.72	CCDS7234.1	10																																																																																			-	NULL		0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	protein_coding	OTTHUMT00000048007.1	G	NM_018245		50636573	-1	no_errors	NM_018245.1	genbank	human	validated	54_36p	silent	SNP	0.001	A	A	50966567	G	A	50966567	2	1	34	1	0	0	0	0	0	0	0	1	10840	1161	41	2		2	OGDHL	10	50966567	Silent	SNP	G	TCGA-AB-2838-03A-01W-0726-08		50966567	84568180	13	365											
PTPN5	84867	genome.wustl.edu	37	11	18762271	18762271	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr11:18762271T>C	ENST00000358540.2	-	8	1224	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	PTPN5_ENST00000396170.1_Missense_Mutation_p.Y233C|PTPN5_ENST00000477854.1_Missense_Mutation_p.Y69C|PTPN5_ENST00000396168.1_Missense_Mutation_p.Y241C|PTPN5_ENST00000396167.2_Missense_Mutation_p.Y233C|PTPN5_ENST00000496201.2_5'Flank|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.Y265C	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	265					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GGACATGAGATAGCCAAAGCC	0.607																																						dbGAP											0			11											64	55	58					11																	18762271		2199	4293	6492	18718847	SO:0001583	missense	0			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.794A>G	11.37:g.18762271T>C	ENSP00000351342:p.Tyr265Cys	139	0	0					18718847	87	26.89	32	B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II	p.Y265C	ENST00000358540.2	37	c.794	CCDS7845.1	11	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382523	0.61845	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	T;T;T;T;T;T	0.03920	3.76;3.76;3.84;3.76;3.84;3.77	4.9	4.9	0.64082	.	0.265926	0.32386	N	0.006166	T	0.07052	0.0179	N	0.14661	0.345	0.37746	D	0.9258	B;D	0.76494	0.057;0.999	B;P	0.58820	0.052;0.846	T	0.45086	-0.9285	10	0.46703	T	0.11	.	9.1408	0.36903	0.0:0.0818:0.0:0.9182	.	265;233	P54829;B3KXG7	PTN5_HUMAN;.	C	69;265;233;265;233;241	ENSP00000435056:Y69C;ENSP00000351342:Y265C;ENSP00000379473:Y233C;ENSP00000379474:Y265C;ENSP00000379470:Y233C;ENSP00000379471:Y241C	ENSP00000351342:Y265C	Y	-	2	0	PTPN5	18718847	1.000000	0.71417	0.875000	0.34327	0.959000	0.62525	3.811000	0.55620	1.836000	0.53414	0.533000	0.62120	TAT	-	NULL		0.607	PTPN5-001	KNOWN	basic|CCDS	protein_coding	PTPN5	protein_coding	OTTHUMT00000259196.2	T	NM_001039970		18718847	-1	no_errors	NM_006906.1	genbank	human	validated	54_36p	missense	SNP	0.865	C	C	18762271	T	C	18762271	3	2	34	1	0	0	0	0	1	0	0	0	12791	1406	49	3	935	3	PTPN5	11	18762271	Missense_Mutation	SNP	T	TCGA-AB-2838-03A-01W-0726-08		18762271	116244245	14	366											
ANO2	57101	genome.wustl.edu	37	12	5672566	5672566	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr12:5672566C>A	ENST00000356134.5	-	27	2970	c.2899G>T	c.(2899-2901)Ggt>Tgt	p.G967C	ANO2_ENST00000327087.8_Missense_Mutation_p.G966C|ANO2_ENST00000546188.1_Missense_Mutation_p.G967C	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	971					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CGATCCCCACCTCCTGGGCTC	0.557																																						dbGAP											0			12											28	30	29					12																	5672566		2025	4186	6211	5542827	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	1183	protein-coding gene	gene with protein product	"transmembrane protein 16B (eight membrane-spanning domains)"	610109	"chromosome 12 open reading frame 3", "transmembrane protein 16B", "anoctamin 2"	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2899G>T	12.37:g.5672566C>A	ENSP00000348453:p.Gly967Cys	379	0	0					5542827	96	37.01	57	C4N787|Q9H847	Missense_Mutation	SNP	HMMPfam_DUF590	p.G967C	ENST00000356134.5	37	c.2899		12	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816388	0.32145	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277;ENST00000543568	T;T;T	0.66460	-0.21;-0.21;-0.21	5.03	3.06	0.35304	.	0.284793	0.33110	N	0.005268	T	0.52008	0.1708	N	0.22421	0.69	0.09310	N	1	P	0.43885	0.82	P	0.46479	0.518	T	0.45920	-0.9228	10	0.59425	D	0.04	.	3.2523	0.06819	0.1913:0.5347:0.0:0.274	.	966	Q9NQ90-3	.	C	966;967;967;971;54	ENSP00000314048:G966C;ENSP00000348453:G967C;ENSP00000440981:G967C	ENSP00000314048:G966C	G	-	1	0	ANO2	5542827	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	-0.022000	0.12480	1.243000	0.43853	0.555000	0.69702	GGT	-	NULL		0.557	ANO2-001	KNOWN	basic	protein_coding	ANO2	protein_coding	OTTHUMT00000399019.4	C	NM_020373		5542827	-1	no_errors	NM_020373.2	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	5672566	C	A	5672566	3	1	34	1	0	0	0	0	1	0	0	0	697	681	24	4	104	4	ANO2	12	5672566	Missense_Mutation	SNP	C	TCGA-AB-2838-03A-01W-0726-08		5672566	128179329	15	367											
GUCY2C	2984	genome.wustl.edu	37	12	14798239	14798239	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr12:14798239T>A	ENST00000261170.3	-	16	1857	c.1721A>T	c.(1720-1722)aAt>aTt	p.N574I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	574	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	AATTGTGTCATTTAAAACTTC	0.338																																						dbGAP											0			12											93	93	93					12																	14798239		2203	4299	6502	14689506	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.1721A>T	12.37:g.14798239T>A	ENSP00000261170:p.Asn574Ile	165	0	0					14689506	89	36.43	51	B2RMY6	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,HMMSmart_SM00044,superfamily_Adenylyl and guanylyl cyclase catalytic domain,HMMSmart_SM00219,HMMPfam_ANF_receptor,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,PatternScan_GUANYLATE_CYCLASE_1,superfamily_Periplasmic binding protein-like I	p.N574I	ENST00000261170.3	37	c.1721	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	T	23.9	4.470452	0.84533	.	.	ENSG00000070019	ENST00000261170	D	0.82711	-1.64	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043544	0.85682	D	0.000000	D	0.86091	0.5850	L	0.31804	0.96	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.87922	0.2704	10	0.72032	D	0.01	.	15.1833	0.72978	0.0:0.0:0.0:1.0	.	574	P25092	GUC2C_HUMAN	I	574	ENSP00000261170:N574I	ENSP00000261170:N574I	N	-	2	0	GUCY2C	14689506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.225000	0.72271	2.000000	0.58554	0.533000	0.62120	AAT	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.338	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	protein_coding	OTTHUMT00000400835.1	T			14689506	-1	no_errors	NM_004963.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	14798239	T	A	14798239	3	1	34	1	0	0	0	0	1	0	0	0	6896	1493	52	5	1548	5	GUCY2C	12	14798239	Missense_Mutation	SNP	T	TCGA-AB-2838-03A-01W-0726-08	9125673	14798239	119053656	16	368											
RFC3	5983	genome.wustl.edu	37	13	34409285	34409285	+	Splice_Site	SNP	G	G	A			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr13:34409285G>A	ENST00000380071.3	+	8	940	c.810G>A	c.(808-810)agG>agA	p.R270R	RFC3_ENST00000434425.1_Splice_Site_p.R270R	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	270					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TTTTATGTAGGCTCCTTGAAG	0.323																																						dbGAP											0			13											85	84	84					13																	34409285		2203	4299	6502	33307285	SO:0001630	splice_region_variant	0				CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.810-1G>A	13.37:g.34409285G>A		35	0	0		14	44	11	33307285	33	38.89	21	C9JU95|O15252|Q5W0E8	Silent	SNP	HMMSmart_SM00382,superfamily_DNA polymerase III clamp loader subunits C-terminal domain,HMMPfam_RFC-E_C,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R270	ENST00000380071.3	37	c.810	CCDS9352.1	13																																																																																			-	superfamily_DNA polymerase III clamp loader subunits C-terminal domain,HMMPfam_RFC-E_C		0.323	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC3	protein_coding	OTTHUMT00000044450.2	G	NM_002915	Silent	33307285	1	no_errors	NM_002915.3	genbank	human	reviewed	54_36p	silent	SNP	0.995	A	A	34409285	G	A	34409285	5	1	34	1	0	0	0	0	0	0	1	0	13246	1217	42	2	840	2	RFC3	13	34409285	Splice_Site	SNP	G	TCGA-AB-2838-03A-01W-0726-08		34409285	80760593	17	369											
TBC1D21	161514	genome.wustl.edu	37	15	74177406	74177406	+	Missense_Mutation	SNP	G	G	C	rs146169837		TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr15:74177406G>C	ENST00000300504.2	+	6	624	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	TBC1D21_ENST00000535547.2_Missense_Mutation_p.E145Q|TBC1D21_ENST00000562056.1_Missense_Mutation_p.E144Q	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	181	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						GCACGACCACGAGACCTTCTG	0.602																																						dbGAP											0			15											116	107	110					15																	74177406		2198	4297	6495	71964459	SO:0001583	missense	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"male germ cell-specific expressed, containing a RabGAP domain"					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.541G>C	15.37:g.74177406G>C	ENSP00000300504:p.Glu181Gln	164	1.78	3					71964459	75	36.97	44	B9A6M2	Missense_Mutation	SNP	HMMSmart_TBC,superfamily_RabGAP_TBC	p.E181Q	ENST00000300504.2	37	c.541	CCDS10252.1	15	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906646	0.72868	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.04317	3.65;3.65	5.01	5.01	0.66863	Rab-GAP/TBC domain (4);	0.000000	0.56097	D	0.000030	T	0.12561	0.0305	L	0.29908	0.895	0.37031	D	0.89669	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.07271	-1.0781	10	0.66056	D	0.02	.	13.8246	0.63343	0.0:0.0:1.0:0.0	.	145;181	B9A6M2;Q8IYX1	.;TBC21_HUMAN	Q	181;145	ENSP00000300504:E181Q;ENSP00000439325:E145Q	ENSP00000300504:E181Q	E	+	1	0	TBC1D21	71964459	1.000000	0.71417	0.990000	0.47175	0.857000	0.48899	5.024000	0.64090	2.329000	0.79093	0.561000	0.74099	GAG	-	HMMSmart_TBC,superfamily_RabGAP_TBC		0.602	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	protein_coding	OTTHUMT00000268994.1	G	NM_153356		71964459	1	no_errors	NM_153356.1	genbank	human	provisional	54_36p	missense	SNP	1.000	C	C	74177406	G	C	74177406	3	2	34	1	0	0	0	0	1	0	0	0	15607	1059	37	4	563	4	TBC1D21	15	74177406	Missense_Mutation	SNP	G	TCGA-AB-2838-03A-01W-0726-08		74177406	28353986	18	370											
TP53	7157	genome.wustl.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	T	rs55863639		TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr17:7579312C>T	ENST00000269305.4	-	4	564	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000420246.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site_p.T125T	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCAACTGACCGTGCAAGTCA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	66	Substitution - coding silent(51)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Deletion - In frame(1)|Insertion - In frame(1)	lung(21)|haematopoietic_and_lymphoid_tissue(14)|large_intestine(8)|upper_aerodigestive_tract(7)|bone(4)|central_nervous_system(3)|biliary_tract(3)|stomach(1)|liver(1)|urinary_tract(1)|kidney(1)|ovary(1)|pancreas(1)	17	GRCh37	CS004351|CS011573|CS971913	TP53	S	rs55863639						66	61	63					17																	7579312		2203	4300	6503	7520037	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>A	17.37:g.7579312C>T		283	0	0		4	91.3	42	7520037	42	60	63	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.T125	ENST00000269305.4	37	c.375	CCDS11118.1	17																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_P53		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	Silent	7520037	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	7579312	C	T	7579312	5	4	34	1	0	0	0	0	0	0	1	0	16378	666	23	1	927	1	TP53	17	7579312	Splice_Site	SNP	C	TCGA-AB-2838-03A-01W-0726-08		7579312	73615898	19	371											
KIF2B	84643	genome.wustl.edu	37	17	51900534	51900534	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2838-03A-01W-0726-08	TCGA-AB-2838-11A-01W-0727-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5d0e7904-586a-4207-96aa-97c8daf3dd61	a9294e38-8585-47e2-b596-da4bb222433a	g.chr17:51900534C>T	ENST00000268919.4	+	1	296	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	47					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTGTGGTCACGGAGATCAAC	0.522																																						dbGAP											0			17											151	124	133					17																	51900534		2203	4300	6503	49255533	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.140C>T	17.37:g.51900534C>T	ENSP00000268919:p.Thr47Met	86	0	0					49255533	36	47.06	32	Q96MA2|Q9BXG6	Missense_Mutation	SNP	HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T47M	ENST00000268919.4	37	c.140	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	14.39	2.520837	0.44866	.	.	ENSG00000141200	ENST00000268919	T	0.75938	-0.98	4.83	4.83	0.62350	.	0.152084	0.30151	N	0.010283	T	0.81054	0.4743	L	0.46819	1.47	0.37751	D	0.925965	D	0.89917	1.0	D	0.66084	0.941	D	0.83820	0.0246	10	0.62326	D	0.03	.	15.1152	0.72394	0.0:1.0:0.0:0.0	.	47	Q8N4N8	KIF2B_HUMAN	M	47	ENSP00000268919:T47M	ENSP00000268919:T47M	T	+	2	0	KIF2B	49255533	0.996000	0.38824	0.986000	0.45419	0.662000	0.39071	3.544000	0.53640	2.644000	0.89710	0.563000	0.77884	ACG	-	NULL		0.522	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	protein_coding	OTTHUMT00000438854.1	C	NM_032559		49255533	1	no_errors	NM_032559.4	genbank	human	validated	54_36p	missense	SNP	0.977	T	T	51900534	C	T	51900534	3	4	34	1	0	0	0	0	1	0	0	0	8298	536	19	1	142	1	KIF2B	17	51900534	Missense_Mutation	SNP	C	TCGA-AB-2838-03A-01W-0726-08	44321222	51900534	29294676	20	372											
NRAS	4893	genome.wustl.edu	37	1	115258744	115258744	+	Missense_Mutation	SNP	C	C	T	rs121434596		TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr1:115258744C>T	ENST00000369535.4	-	2	291	c.38G>A	c.(37-39)gGt>gAt	p.G13D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(188)|p.G13V(56)|p.G13A(16)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCCCAACACCACCTGCTCC	0.498	G13D(HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13V(AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	262	Substitution - Missense(262)	haematopoietic_and_lymphoid_tissue(217)|skin(36)|thyroid(2)|large_intestine(2)|soft_tissue(2)|central_nervous_system(1)|endometrium(1)|NS(1)	1	GRCh37	CM071907	NRAS	M	rs121434596						208	185	193					1																	115258744		2203	4300	6503	115060267	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.38G>A	1.37:g.115258744C>T	ENSP00000358548:p.Gly13Asp	92	2.13	2		37	26	13	115060267	58	37.63	35	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G13D	ENST00000369535.4	37	c.38	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048221	0.93740	.	.	ENSG00000213281	ENST00000369535	T	0.72942	-0.7	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	T	0.79644	0.4481	M	0.92604	3.325	0.80722	D	1	B	0.33964	0.434	B	0.42319	0.383	T	0.81673	-0.0826	10	0.62326	D	0.03	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	D	13	ENSP00000358548:G13D	ENSP00000358548:G13D	G	-	2	0	NRAS	115060267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060267	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115258744	C	T	115258744	3	4	35	1	0	0	0	0	1	0	0	0	10640	507	18	2	547	2	NRAS	1	115258744	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08		115258744	133991877	1	373											
DNMT3A	1788	genome.wustl.edu	37	2	25468133	25468133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr2:25468133G>A	ENST00000264709.3	-	13	1880	c.1543C>T	c.(1543-1545)Caa>Taa	p.Q515*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q292*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q326*|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q515*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	515	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCAGTTTTGGCACATTCCT	0.587			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											102	97	99					2																	25468133		2203	4300	6503	25321637	SO:0001587	stop_gained	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1543C>T	2.37:g.25468133G>A	ENSP00000264709:p.Gln515*	18	0	0		27	37.21	16	25321637	12	55.56	15	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.Q515*	ENST00000264709.3	37	c.1543	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.378791	0.98248	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.27	5.27	0.74061	.	0.059362	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-5.893	16.4462	0.83935	0.0:0.0:1.0:0.0	.	.	.	.	X	326;515;515;292	.	ENSP00000264709:Q515X	Q	-	1	0	DNMT3A	25321637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.624000	0.83124	2.735000	0.93741	0.655000	0.94253	CAA	-	NULL		0.587	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25321637	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	25468133	G	A	25468133	4	1	35	1	0	0	0	0	0	1	0	0	4676	1357	47	2	1239	2	DNMT3A	2	25468133	Nonsense_Mutation	SNP	G	TCGA-AB-2839-03B-01W-0728-08		25468133	217731240	2	374											
CNTN6	27255	genome.wustl.edu	37	3	1415299	1415299	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr3:1415299C>A	ENST00000446702.2	+	15	2425	c.1798C>A	c.(1798-1800)Cct>Act	p.P600T	CNTN6_ENST00000350110.2_Missense_Mutation_p.P600T|CNTN6_ENST00000539053.1_Missense_Mutation_p.P528T			Q9UQ52	CNTN6_HUMAN	contactin 6	600	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCCACCAGGTCCTCCTGAGGA	0.378																																						dbGAP											0			3											67	69	68					3																	1415299		2203	4300	6503	1390299	SO:0001583	missense	0			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	2176	protein-coding gene	gene with protein product	"neural adhesion molecule"	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1798C>A	3.37:g.1415299C>A	ENSP00000407822:p.Pro600Thr	81	0	0					1390299	60	33.33	30	Q2KHM2	Missense_Mutation	SNP	HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726	p.P600T	ENST00000446702.2	37	c.1798	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	C	17.69	3.450971	0.63290	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.59502	0.26;0.26;0.26	4.96	4.96	0.65561	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000046	D	0.84651	0.5519	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90232	0.4280	10	0.87932	D	0	.	18.5527	0.91071	0.0:1.0:0.0:0.0	.	600	Q9UQ52	CNTN6_HUMAN	T	600;528;600	ENSP00000407822:P600T;ENSP00000442791:P528T;ENSP00000341882:P600T	ENSP00000341882:P600T	P	+	1	0	CNTN6	1390299	1.000000	0.71417	0.951000	0.38953	0.379000	0.30106	7.217000	0.77982	2.443000	0.82685	0.591000	0.81541	CCT	-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.378	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	protein_coding	OTTHUMT00000239235.2	C	NM_014461		1390299	1	no_errors	NM_014461.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	1415299	C	A	1415299	3	1	35	1	0	0	0	0	1	0	0	0	3645	855	30	4	1852	4	CNTN6	3	1415299	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08		1415299	196607131	3	375											
VPRBP	9730	genome.wustl.edu	37	3	51466813	51466813	+	Intron	SNP	T	T	C			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr3:51466813T>C	ENST00000335891.5	-	7	682							Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein						B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTCAAAGTATTTGCGCAAGGC	0.473																																						dbGAP											0			3											100	99	99					3																	51466813		1934	4141	6075	51441853	SO:0001627	intron_variant	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"DDB1 and CUL4 associated factors"	30911	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 1"					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.673-8409A>G	3.37:g.51466813T>C		67	8.22	6		16	30.43	7	51441853	55	43.88	43	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	HMMSmart_SM00667,superfamily_WD40 repeat-like,HMMPfam_LisH,superfamily_ARM repeat	p.K530R	ENST00000335891.5	37	c.1589		3	.	.	.	.	.	.	.	.	.	.	T	9.261	1.043263	0.19748	.	.	ENSG00000145041	ENST00000423656	T	0.19669	2.13	6.07	4.94	0.65067	Armadillo-type fold (1);	0.042517	0.85682	D	0.000000	T	0.05410	0.0143	N	0.01771	-0.73	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34650	-0.9820	10	0.02654	T	1	-23.8416	3.4818	0.07605	0.0:0.305:0.0:0.695	.	526	Q9Y4B6	VPRBP_HUMAN	R	97	ENSP00000393183:K97R	ENSP00000393183:K97R	K	-	2	0	VPRBP	51441853	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.627000	0.67784	2.330000	0.79161	0.528000	0.53228	AAA	-	superfamily_ARM repeat		0.473	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	protein_coding		T	NM_014703		51441853	-1	no_errors	ENST00000273612	ensembl	human	known	54_36p	missense	SNP	1.000	C	C	51466813	T	C	51466813	1	2	35	0	1	0	0	0	0	0	0	0	17182	1841	64	3		3	VPRBP	3	51466813	Intron	SNP	T	TCGA-AB-2839-03B-01W-0728-08	50051514	51466813	146555617	4	376											
KDR	3791	genome.wustl.edu	37	4	55980300	55980300	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr4:55980300G>A	ENST00000263923.4	-	6	1086	c.791C>T	c.(790-792)tCt>tTt	p.S264F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	264	Ig-like C2-type 3.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TACCTTCGAAGAAGGGTATTC	0.413			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											181	176	177					4																	55980300		2203	4300	6503	55675057	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.791C>T	4.37:g.55980300G>A	ENSP00000263923:p.Ser264Phe	108	6.09	7					55675057	55	53.72	65	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.S264F	ENST00000263923.4	37	c.791	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	G	14.35	2.508624	0.44660	.	.	ENSG00000128052	ENST00000263923	T	0.29655	1.56	5.45	4.59	0.56863	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.474802	0.24532	N	0.037709	T	0.52208	0.1720	M	0.65975	2.015	0.33164	D	0.547345	D;D	0.76494	0.999;0.97	D;P	0.69307	0.963;0.879	T	0.64968	-0.6282	10	0.40728	T	0.16	.	15.3228	0.74135	0.0:0.0:0.8589:0.1411	.	264;264	P35968-2;P35968	.;VGFR2_HUMAN	F	264	ENSP00000263923:S264F	ENSP00000263923:S264F	S	-	2	0	KDR	55675057	1.000000	0.71417	0.966000	0.40874	0.148000	0.21650	3.377000	0.52425	1.245000	0.43885	0.563000	0.77884	TCT	-	HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726		0.413	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	G			55675057	-1	no_errors	NM_002253.2	genbank	human	validated	54_36p	missense	SNP	0.630	A	A	55980300	G	A	55980300	3	1	35	1	0	0	0	0	1	0	0	0	8139	942	33	2	3379	2	KDR	4	55980300	Missense_Mutation	SNP	G	TCGA-AB-2839-03B-01W-0728-08		55980300	135173976	5	377											
TGFBI	7045	genome.wustl.edu	37	5	135396553	135396553	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr5:135396553C>T	ENST00000442011.2	+	14	1995	c.1834C>T	c.(1834-1836)Cct>Tct	p.P612S	TGFBI_ENST00000508076.1_5'UTR|TGFBI_ENST00000305126.8_Missense_Mutation_p.P612S	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	612	FAS1 4. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAACAAGGAGCCTGTTGCCGA	0.418																																						dbGAP											0			5											50	51	51					5																	135396553		2033	4186	6219	135424452	SO:0001583	missense	0			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"transforming growth factor, beta-induced, 68kD"	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1834C>T	5.37:g.135396553C>T	ENSP00000416330:p.Pro612Ser	213	1.39	3		0	100	1	135424452	49	35.53	27	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Missense_Mutation	SNP	HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain,HMMPfam_EMI	p.P612S	ENST00000442011.2	37	c.1834	CCDS47266.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.46|13.46	2.244953|2.244953	0.39697|0.39697	.|.	.|.	ENSG00000120708|ENSG00000120708	ENST00000514554|ENST00000442011;ENST00000398813;ENST00000305126	.|D;D	.|0.89552	.|-2.53;-2.53	5.83|5.83	4.96|4.96	0.65561|0.65561	.|FAS1 domain (5);	.|0.147684	.|0.64402	.|D	.|0.000006	D|D	0.91270|0.91270	0.7248|0.7248	L|L	0.33710|0.33710	1.025|1.025	0.46044|0.46044	D|D	0.998833|0.998833	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	D|D	0.90977|0.90977	0.4824|0.4824	5|10	.|0.39692	.|T	.|0.17	-18.5252|-18.5252	16.9755|16.9755	0.86312|0.86312	0.0:0.8723:0.1277:0.0|0.0:0.8723:0.1277:0.0	.|.	.|345;612	.|B9ZVW9;Q15582	.|.;BGH3_HUMAN	V|S	329|612;345;612	.|ENSP00000416330:P612S;ENSP00000306306:P612S	.|ENSP00000306306:P612S	A|P	+|+	2|1	0|0	TGFBI|TGFBI	135424452|135424452	0.903000|0.903000	0.30736|0.30736	0.260000|0.260000	0.24451|0.24451	0.014000|0.014000	0.08584|0.08584	3.200000|3.200000	0.51051|0.51051	1.456000|1.456000	0.47831|0.47831	-0.315000|-0.315000	0.08773|0.08773	GCC|CCT	-	HMMPfam_Fasciclin,HMMSmart_SM00554,superfamily_FAS1 domain		0.418	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBI	protein_coding	OTTHUMT00000372108.1	C			135424452	1	no_errors	NM_000358.2	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	135396553	C	T	135396553	3	4	35	1	0	0	0	0	1	0	0	0	15817	739	26	2	1888	2	TGFBI	5	135396553	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08		135396553	45518707	6	378											
NPM1	4869	genome.wustl.edu	37	5	170837543	170837544	+	Frame_Shift_Ins	INS	-	-	TATG	rs17850940		TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	-	-	-	TATG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr5:170837543_170837544insTATG	ENST00000296930.5	+	11	1160_1161	c.859_860insTATG	c.(859-861)ctcfs	p.-287fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.-258fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.-287fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)						cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(7)|p.W288fs*>9(5)|p.L287fs*11(2)|p.L287F(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TATTCAAGATCTCTGGCAGTGG	0.317			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	15	Insertion - Frameshift(14)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(15)	5																																								170770149	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837543_170837544insTATG	ENSP00000296930:p.Leu287fs								170770148				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.859_860	CCDS4376.1	5																																																																																			-	NULL		0.317	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770149	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TATG	TATG	170837544	-	TATG	170837543	7	5	35	1	0	1	1	0	0	0	0	0	10587	913	32	0	914	0	NPM1	5	170837543	Frame_Shift_Ins	INS	-	TCGA-AB-2839-03B-01W-0728-08	35440990	170837543	10077717	7	379											
SLC1A1	6505	genome.wustl.edu	37	9	4576050	4576050	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr9:4576050G>A	ENST00000262352.3	+	9	1161	c.925G>A	c.(925-927)Gta>Ata	p.V309I		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	309					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	TTTCATAGTCGTACGAAAGAA	0.438																																						dbGAP											0			9											99	94	96					9																	4576050		2203	4300	6503	4566050	SO:0001583	missense	0				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"Solute carriers"	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.925G>A	9.37:g.4576050G>A	ENSP00000262352:p.Val309Ile	141	5.37	8					4566050	71	51.37	75	O75587|Q5VZ24|Q8N199|Q9UEW2	Missense_Mutation	SNP	HMMPfam_SDF,PatternScan_NA_DICARBOXYL_SYMP_1,PatternScan_NA_DICARBOXYL_SYMP_2	p.V309I	ENST00000262352.3	37	c.925	CCDS6452.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.63|19.63	3.863960|3.863960	0.71949|0.71949	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000422398|ENST00000262352	.|T	.|0.58797	.|0.31	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	.|0.057496	.|0.64402	.|D	.|0.000001	T|T	0.55721|0.55721	0.1938|0.1938	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	.|P	.|0.38335	.|0.627	.|B	.|0.34301	.|0.179	T|T	0.62604|0.62604	-0.6819|-0.6819	5|10	.|0.87932	.|D	.|0	.|.	19.5203|19.5203	0.95182|0.95182	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|309	.|P43005	.|EAA3_HUMAN	H|I	71|309	.|ENSP00000262352:V309I	.|ENSP00000262352:V309I	R|V	+|+	2|1	0|0	SLC1A1|SLC1A1	4566050|4566050	1.000000|1.000000	0.71417|0.71417	0.251000|0.251000	0.24312|0.24312	0.867000|0.867000	0.49689|0.49689	4.869000|4.869000	0.63028|0.63028	2.678000|2.678000	0.91216|0.91216	0.655000|0.655000	0.94253|0.94253	CGT|GTA	-	HMMPfam_SDF		0.438	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A1	protein_coding	OTTHUMT00000051571.1	G			4566050	1	no_errors	NM_004170.4	genbank	human	validated	54_36p	missense	SNP	0.986	A	A	4576050	G	A	4576050	3	1	35	1	0	0	0	0	1	0	0	0	14431	1145	40	1	959	1	SLC1A1	9	4576050	Missense_Mutation	SNP	G	TCGA-AB-2839-03B-01W-0728-08		4576050	136637381	8	380											
PRSS3	5646	genome.wustl.edu	37	9	33795590	33795590	+	Intron	SNP	C	C	T			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr9:33795590C>T	ENST00000361005.5	+	2	211				PRSS3_ENST00000429677.3_Intron|PRSS3_ENST00000342836.4_Intron|PRSS3_ENST00000379405.3_Missense_Mutation_p.L7F|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ATTCCTGATCCTTGCCTTTGT	0.567																																						dbGAP											0			9											175	126	143					9																	33795590		2203	4300	6503	33785590	SO:0001627	intron_variant	0				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"Serine peptidases / Serine peptidases"	9486	protein-coding gene	gene with protein product	"mesotrypsin"	613578	"protease, serine, 4 (trypsin 4, brain)", "protease, serine, 3 (mesotrypsin)"	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1051C>T	9.37:g.33795590C>T		105	7.08	8					33785590	48	43.53	37	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS	p.L7F	ENST00000361005.5	37	c.19	CCDS47958.1	9	.	.	.	.	.	.	.	.	.	.	C	6.043	0.376267	0.11466	.	.	ENSG00000010438	ENST00000379405	D	0.90069	-2.61	3.85	2.62	0.31277	.	.	.	.	.	T	0.81408	0.4816	L	0.42744	1.35	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.76342	-0.2994	9	0.38643	T	0.18	.	4.0875	0.09953	0.0:0.6632:0.0:0.3368	.	7	P35030-3	.	F	7	ENSP00000368715:L7F	ENSP00000368715:L7F	L	+	1	0	PRSS3	33785590	0.980000	0.34600	0.991000	0.47740	0.046000	0.14306	0.392000	0.20801	1.892000	0.54788	0.306000	0.20318	CTT	-	NULL		0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	PRSS3	protein_coding	OTTHUMT00000052121.1	C	NM_002771		33785590	1	no_errors	NM_002771.3	genbank	human	reviewed	54_36p	missense	SNP	0.941	T	T	33795590	C	T	33795590	1	4	35	0	1	0	0	0	0	0	0	0	12622	681	24	2		2	PRSS3	9	33795590	Intron	SNP	C	TCGA-AB-2839-03B-01W-0728-08	29219540	33795590	107417841	9	381											
SMC3	9126	genome.wustl.edu	37	10	112362987	112362987	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr10:112362987C>T	ENST00000361804.4	+	28	3647	c.3521C>T	c.(3520-3522)aCt>aTt	p.T1174I		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1174					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATTACAACTACTTTTAGGCCT	0.289																																						dbGAP											0			10											66	69	68					10																	112362987		2203	4291	6494	112352977	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3521C>T	10.37:g.112362987C>T	ENSP00000354720:p.Thr1174Ile	23	14.81	4		25	41.86	18	112352977	50	44.57	41	A8K156|O60464|Q5T482	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain	p.T1174I	ENST00000361804.4	37	c.3521	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	C	20.2	3.957801	0.73902	.	.	ENSG00000108055	ENST00000361804	D	0.93953	-3.32	5.41	5.41	0.78517	RecF/RecN/SMC (1);	0.042624	0.85682	D	0.000000	D	0.97739	0.9258	M	0.93594	3.435	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98391	1.0563	10	0.87932	D	0	.	19.5802	0.95464	0.0:1.0:0.0:0.0	.	1174	Q9UQE7	SMC3_HUMAN	I	1174	ENSP00000354720:T1174I	ENSP00000354720:T1174I	T	+	2	0	SMC3	112352977	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.712000	0.92718	0.650000	0.86243	ACT	-	HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.289	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	C	NM_005445		112352977	1	no_errors	NM_005445.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	112362987	C	T	112362987	3	4	35	1	0	0	0	0	1	0	0	0	14784	565	20	2	3631	2	SMC3	10	112362987	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08		112362987	23171760	10	382											
WT1	7490	genome.wustl.edu	37	11	32417908	32417909	+	Frame_Shift_Ins	INS	-	-	CCGA	rs377446096		TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	-	-	-	CCGA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr11:32417908_32417909insCCGA	ENST00000379079.2	-	7	780_781	c.507_508insTCGG	c.(505-510)tcggcafs	p.A170fs	WT1_ENST00000448076.3_Frame_Shift_Ins_p.A382fs|WT1_ENST00000530998.1_Frame_Shift_Ins_p.A153fs|WT1_ENST00000332351.3_Frame_Shift_Ins_p.A382fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	314					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A314fs*4(19)|p.A314fs*69(11)|p.A314fs*3(3)|p.A314fs*7(2)|p.V311fs*3(2)|p.A314fs*6(2)|p.L310fs*63(1)|p.P308fs*67(1)|p.S313del(1)|p.A314fs*68(1)|p.A314fs*65(1)|p.T309fs*4(1)|p.A314fs*71(1)|p.?fs(1)|p.S313fs*70(1)|p.A314fs*15(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTCTCAGATGCCGACCGTACAA	0.52			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	49	Insertion - Frameshift(41)|Deletion - Frameshift(4)|Complex - frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(47)|kidney(2)	11																																								32374485	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.507_508insTCGG	11.37:g.32417908_32417909insCCGA	ENSP00000368370:p.Ala170fs								32374484				A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A381fs	ENST00000379079.2	37	c.1144_1143	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.52	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374485	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.833:0.771	CCGA	CCGA	32417909	-	CCGA	32417908	7	5	35	1	0	1	1	0	0	0	0	0	17405	739	26	0	425	0	WT1	11	32417908	Frame_Shift_Ins	INS	-	TCGA-AB-2839-03B-01W-0728-08		32417908	102588608	11	383											
OR5AS1	219447	genome.wustl.edu	37	11	55798094	55798094	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr11:55798094C>A	ENST00000313555.1	+	1	200	c.200C>A	c.(199-201)tCt>tAt	p.S67Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AGCAACTTATCTTTCTTAGAC	0.343																																						dbGAP											0			11											58	58	58					11																	55798094		2201	4296	6497	55554670	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"GPCR / Class A : Olfactory receptors"	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.200C>A	11.37:g.55798094C>A	ENSP00000324111:p.Ser67Tyr	67	9.46	7					55554670	83	40.29	56	Q6IFB8	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.S67Y	ENST00000313555.1	37	c.200	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124884	0.56613	.	.	ENSG00000181785	ENST00000313555	T	0.12361	2.69	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34580	U	0.003849	T	0.52629	0.1746	H	0.97783	4.075	0.28729	N	0.902588	D	0.64830	0.994	P	0.60173	0.87	T	0.67063	-0.5765	10	0.87932	D	0	.	18.3047	0.90176	0.0:1.0:0.0:0.0	.	67	Q8N127	O5AS1_HUMAN	Y	67	ENSP00000324111:S67Y	ENSP00000324111:S67Y	S	+	2	0	OR5AS1	55554670	0.017000	0.18338	1.000000	0.80357	0.507000	0.33981	2.774000	0.47694	2.663000	0.90544	0.643000	0.83706	TCT	-	HMMPfam_7tm_1,superfamily_SSF81321		0.343	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	protein_coding	OTTHUMT00000391538.1	C	NM_001001921		55554670	1	no_errors	NM_001001921.1	genbank	human	provisional	54_36p	missense	SNP	0.965	A	A	55798094	C	A	55798094	3	1	35	1	0	0	0	0	1	0	0	0	11146	913	32	4	202	4	OR5AS1	11	55798094	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08	23380186	55798094	79208422	12	384											
CACNA2D4	93589	genome.wustl.edu	37	12	1963133	1963133	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr12:1963133C>A	ENST00000382722.5	-	23	2592	c.2230G>T	c.(2230-2232)Gcc>Tcc	p.A744S	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A680S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A744S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A719S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A680S|CACNA2D4_ENST00000539048.2_Intron|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A605S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	744					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ATGTTGAGGGCCAGCGCTGTC	0.617																																					Colon(2;101 179 21030 23310 28141)	dbGAP											0			12											46	55	52					12																	1963133		2032	4188	6220	1833394	SO:0001583	missense	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"Calcium channel subunits"	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.2230G>T	12.37:g.1963133C>A	ENSP00000372169:p.Ala744Ser	89	6.32	6		6	64.71	11	1833394	25	58.33	35	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Cache_1,HMMPfam_VWA_N,superfamily_vWA-like	p.A744S	ENST00000382722.5	37	c.2230	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	4.402	0.074267	0.08485	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.30714	1.52	5.4	3.58	0.41010	.	0.224864	0.47093	D	0.000248	T	0.23054	0.0557	L	0.48935	1.535	0.31821	N	0.625925	B;B	0.32350	0.2;0.366	B;B	0.32022	0.139;0.08	T	0.20874	-1.0262	10	0.10636	T	0.68	.	9.8913	0.41292	0.1382:0.7881:0.0:0.0737	.	744;744	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	S	680;744;744	ENSP00000372169:A744S	ENSP00000280663:A744S	A	-	1	0	CACNA2D4	1833394	1.000000	0.71417	0.400000	0.26346	0.044000	0.14063	1.835000	0.39181	0.669000	0.31146	-0.123000	0.14984	GCC	-	NULL		0.617	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	protein_coding	OTTHUMT00000398230.2	C			1833394	-1	no_errors	NM_172364.4	genbank	human	reviewed	54_36p	missense	SNP	0.824	A	A	1963133	C	A	1963133	3	1	35	1	0	0	0	0	1	0	0	0	2551	739	26	4	1247	4	CACNA2D4	12	1963133	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08		1963133	131888762	13	385											
SLC39A5	283375	genome.wustl.edu	37	12	56631037	56631037	+	Silent	SNP	G	G	T			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr12:56631037G>T	ENST00000266980.4	+	10	1685	c.1392G>T	c.(1390-1392)gtG>gtT	p.V464V	SLC39A5_ENST00000419232.1_3'UTR|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Silent_p.V464V	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	464					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCTGGGGGTGGGGCTCAGCC	0.642																																						dbGAP											0			12											58	61	60					12																	56631037		2203	4300	6503	54917304	SO:0001819	synonymous_variant	0				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1392G>T	12.37:g.56631037G>T		37	2.63	1		2	0	0	54917304	14	46.15	12	B2R808|Q8N6Y3	Silent	SNP	HMMPfam_Zip	p.V463	ENST00000266980.4	37	c.1389	CCDS8912.2	12																																																																																			-	HMMPfam_Zip		0.642	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	protein_coding	OTTHUMT00000346834.1	G	NM_173596		54917304	1	no_errors	NM_173596.1	genbank	human	validated	54_36p	silent	SNP	0.997	T	T	56631037	G	T	56631037	2	4	35	1	0	0	0	0	0	0	0	1	14621	1335	47	4		4	SLC39A5	12	56631037	Silent	SNP	G	TCGA-AB-2839-03B-01W-0728-08	54667904	56631037	77220858	14	386											
PTPN11	5781	genome.wustl.edu	37	12	112939981	112939981	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr12:112939981A>C	ENST00000351677.2	+	14	1831	c.1633A>C	c.(1633-1635)Att>Ctt	p.I545L		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	549					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATATACAAATATTAAGTATTC	0.443			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0			12											74	77	76					12																	112939981		2203	4300	6503	111424364	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1633A>C	12.37:g.112939981A>C	ENSP00000340944:p.Ile545Leu	65	4.41	3		23	48.89	22	111424364	35	50.7	36	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.I545L	ENST00000351677.2	37	c.1633	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993191	0.74703	.	.	ENSG00000179295	ENST00000351677	T	0.10288	2.89	5.38	5.38	0.77491	.	0.106709	0.64402	D	0.000006	T	0.12390	0.0301	L	0.36672	1.1	0.80722	D	1	B	0.29936	0.262	B	0.34536	0.185	T	0.07868	-1.0750	10	0.41790	T	0.15	.	15.4198	0.75003	1.0:0.0:0.0:0.0	.	545	Q06124-2	.	L	545	ENSP00000340944:I545L	ENSP00000340944:I545L	I	+	1	0	PTPN11	111424364	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.463000	0.90377	2.030000	0.59900	0.533000	0.62120	ATT	-	NULL		0.443	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	A			111424364	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	112939981	A	C	112939981	3	2	35	1	0	0	0	0	1	0	0	0	12780	449	16	5	1687	5	PTPN11	12	112939981	Missense_Mutation	SNP	A	TCGA-AB-2839-03B-01W-0728-08	56308944	112939981	20911914	15	387											
C15orf57	90416	genome.wustl.edu	37	15	40855085	40855085	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr15:40855085C>T	ENST00000358005.3	-	2	403	c.130G>A	c.(130-132)Gtg>Atg	p.V44M	C15orf57_ENST00000558750.1_Missense_Mutation_p.V53M|C15orf57_ENST00000560305.1_Missense_Mutation_p.V44M|C15orf57_ENST00000559911.1_Missense_Mutation_p.V44M|C15orf57_ENST00000561011.1_Missense_Mutation_p.V44M|C15orf57_ENST00000416810.2_Missense_Mutation_p.V44M|C15orf57_ENST00000558113.1_Missense_Mutation_p.V44M|C15orf57_ENST00000558871.1_Missense_Mutation_p.V44M|C15orf57_ENST00000560109.1_5'UTR	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	44										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						CAAGAATCCACAAAGGAGTCT	0.512																																						dbGAP											0			15											184	177	179					15																	40855085		2203	4300	6503	38642377	SO:0001583	missense	0			BC012189	CCDS10060.1, CCDS42022.1, CCDS73706.1	15q15.1	2008-05-30	2008-05-30	2008-05-30	ENSG00000128891	ENSG00000128891			28295	protein-coding gene	gene with protein product			"coiled-coil domain containing 32"	CCDC32		12477932	Standard	NM_001080791		Approved	MGC20481	uc001zma.1	Q9BV29	OTTHUMG00000129993	ENST00000358005.3:c.130G>A	15.37:g.40855085C>T	ENSP00000350695:p.Val44Met	119	2.46	3		26	43.48	20	38642377	33	45	27	A8KAL4|Q86TC4|Q8N788|Q8NAR7	Missense_Mutation	SNP	NULL	p.V53M	ENST00000358005.3	37	c.157	CCDS10060.1	15	.	.	.	.	.	.	.	.	.	.	C	4.287	0.052482	0.08291	.	.	ENSG00000128891	ENST00000358005;ENST00000416810	T	0.43688	0.94	4.92	-0.845	0.10737	.	0.729179	0.13713	N	0.367942	T	0.11580	0.0282	N	0.00926	-1.1	0.19945	N	0.999946	B;B;B	0.12630	0.006;0.006;0.002	B;B;B	0.10450	0.005;0.005;0.005	T	0.21690	-1.0238	10	0.27785	T	0.31	-22.3122	2.6985	0.05141	0.1082:0.4377:0.211:0.2431	.	44;53;44	Q9BV29;Q9BV29-2;Q9BV29-3	CO057_HUMAN;.;.	M	44;53	ENSP00000350695:V44M	ENSP00000350695:V44M	V	-	1	0	C15orf57	38642377	0.121000	0.22262	0.869000	0.34112	0.279000	0.26890	-0.687000	0.05156	-0.109000	0.12044	-0.324000	0.08512	GTG	-	NULL		0.512	C15orf57-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C15orf57	protein_coding	OTTHUMT00000252259.2	C	NM_052849		38642377	-1	no_errors	NM_001080791.1	genbank	human	validated	54_36p	missense	SNP	0.251	T	T	40855085	C	T	40855085	3	4	35	1	0	0	0	0	1	0	0	0	1805	478	17	2	439	2	C15orf57	15	40855085	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08		40855085	61676307	16	388											
DUOXA2	405753	genome.wustl.edu	37	15	45408364	45408364	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr15:45408364C>A	ENST00000323030.5	+	3	533	c.248C>A	c.(247-249)aCc>aAc	p.T83N	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	83					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ACAGTGAACACCAACACATCC	0.557																																						dbGAP											0			15											141	136	138					15																	45408364		2002	4166	6168	43195656	SO:0001583	missense	0			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.248C>A	15.37:g.45408364C>A	ENSP00000319705:p.Thr83Asn	29	3.33	1					43195656	15	44.44	12	B2RPI9|H0YNQ6	Missense_Mutation	SNP	HMMPfam_DuoxA	p.T83N	ENST00000323030.5	37	c.248	CCDS10118.2	15	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512593	0.64522	.	.	ENSG00000140274	ENST00000323030	T	0.57107	0.42	5.41	4.5	0.54988	.	0.151564	0.64402	D	0.000015	T	0.67859	0.2938	M	0.76574	2.34	0.32053	N	0.596716	D	0.58970	0.984	P	0.59424	0.857	T	0.76974	-0.2760	10	0.72032	D	0.01	-20.0443	13.3282	0.60471	0.0:0.9236:0.0:0.0764	.	83	Q1HG44	DOXA2_HUMAN	N	83	ENSP00000319705:T83N	ENSP00000319705:T83N	T	+	2	0	DUOXA2	43195656	0.998000	0.40836	0.405000	0.26409	0.768000	0.43524	5.546000	0.67243	1.284000	0.44531	0.561000	0.74099	ACC	-	HMMPfam_DuoxA		0.557	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUOXA2	protein_coding	OTTHUMT00000254142.1	C	NM_207581		43195656	1	no_errors	NM_207581.2	genbank	human	validated	54_36p	missense	SNP	0.999	A	A	45408364	C	A	45408364	3	1	35	1	0	0	0	0	1	0	0	0	4803	507	18	4	258	4	DUOXA2	15	45408364	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08	4553279	45408364	57123028	17	389											
TM6SF1	53346	genome.wustl.edu	37	15	83784622	83784622	+	Silent	SNP	C	C	T	rs552226250		TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr15:83784622C>T	ENST00000322019.9	+	3	496	c.222C>T	c.(220-222)agC>agT	p.S74S	TM6SF1_ENST00000565774.1_Silent_p.S74S|TM6SF1_ENST00000564988.1_3'UTR|RP11-382A20.2_ENST00000565513.1_RNA|TM6SF1_ENST00000379386.4_Silent_p.S74S|TM6SF1_ENST00000379390.6_Silent_p.S74S			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	74						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GATTTACCAGCGTGGTGAACC	0.418													C|||	1	0.000199681	8e-04	0	5008	,	,		22127	0		0	False		,,,				2504	0					dbGAP											0			15											169	143	152					15																	83784622		2203	4300	6503	81575626	SO:0001819	synonymous_variant	0			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.222C>T	15.37:g.83784622C>T		222	4.72	11					81575626	56	39.78	37	A8K7T5|H3BU56|Q4U0U5	Silent	SNP	NULL	p.S74	ENST00000322019.9	37	c.222	CCDS10323.1	15																																																																																			-	NULL		0.418	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	protein_coding	OTTHUMT00000304009.1	C	NM_023003		81575626	1	no_errors	NM_023003.1	genbank	human	validated	54_36p	silent	SNP	0.954	T	T	83784622	C	T	83784622	2	4	35	1	0	0	0	0	0	0	0	1	15969	767	27	1		1	TM6SF1	15	83784622	Silent	SNP	C	TCGA-AB-2839-03B-01W-0728-08	38376258	83784622	18746770	18	390											
CEBPA	1050	genome.wustl.edu	37	19	33792294	33792294	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr19:33792294delG	ENST00000498907.2	-	1	1176	c.1027delC	c.(1027-1029)cgcfs	p.R343fs	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	343	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R343fs*17(2)|p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GGCAGCTGGCGGAAGATGCCC	0.692			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	4	Deletion - Frameshift(2)|Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	19											20	23	22					19																	33792294		2188	4276	6464	38484134	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.1027delC	19.37:g.33792294delG	ENSP00000427514:p.Arg343fs	1	0	0		66	41.59	47	38484134	9	30.77	4	A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.R343fs	ENST00000498907.2	37	c.1027	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ		0.692	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	G	NM_004364		38484134	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	33792294	G	-	33792294	7	5	35	1	0	1	0	1	0	0	0	0	3199	1116	39	0	53	0	CEBPA	19	33792294	Frame_Shift_Del	DEL	G	TCGA-AB-2839-03B-01W-0728-08		33792294	25336689	19	391											
RALGAPA2	57186	genome.wustl.edu	37	20	20610211	20610211	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr20:20610211C>A	ENST00000202677.7	-	10	1036	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	343					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GCGCTCTCTCCTGCACAGCAC	0.552																																						dbGAP											0			20											88	91	90					20																	20610211		2159	4256	6415	20558211	SO:0001583	missense	0			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"chromosome 20 open reading frame 74"	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.1029G>T	20.37:g.20610211C>A	ENSP00000202677:p.Gln343His	78	6.02	5		9	60.87	14	20558211	74	43.08	56	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	HMMPfam_Rap_GAP,superfamily_Rap/Ran-GAP (Pfam 02145)	p.Q343H	ENST00000202677.7	37	c.1029	CCDS46584.1	20	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.42|18.42|18.42	3.620824|3.620824|3.620824	0.66787|0.66787|0.66787	.|.|.	.|.|.	ENSG00000188559|ENSG00000188559|ENSG00000188559	ENST00000432524|ENST00000202677|ENST00000430436	.|T|.	.|0.79352|.	.|-1.26|.	5.1|5.1|5.1	-1.47|-1.47|-1.47	0.08772|0.08772|0.08772	.|.|.	.|1.692890|.	.|0.03207|.	.|N|.	.|0.175641|.	.|T|T	.|0.48484|0.48484	.|0.1502|0.1502	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.36628|0.36628|0.36628	D|D|D	0.876138|0.876138|0.876138	.|P|.	.|0.45348|.	.|0.856|.	.|P|.	.|0.46758|.	.|0.526|.	.|T|T	.|0.48647|0.48647	.|-0.9017|-0.9017	.|10|5	.|0.54805|.	.|T|.	.|0.06|.	.|.|.	2.1868|2.1868|2.1868	0.03889|0.03889|0.03889	0.1147:0.2785:0.1187:0.4882|0.1147:0.2785:0.1187:0.4882|0.1147:0.2785:0.1187:0.4882	.|.|.	.|343|.	.|Q2PPJ7|.	.|RGPA2_HUMAN|.	X|H|M	195|343|160	.|ENSP00000202677:Q343H|.	.|ENSP00000202677:Q343H|.	G|Q|R	-|-|-	1|3|2	0|2|0	RALGAPA2|RALGAPA2|RALGAPA2	20558211|20558211|20558211	0.915000|0.915000|0.915000	0.31059|0.31059|0.31059	0.005000|0.005000|0.005000	0.12908|0.12908|0.12908	0.342000|0.342000|0.342000	0.28953|0.28953|0.28953	-0.013000|-0.013000|-0.013000	0.12678|0.12678|0.12678	-0.621000|-0.621000|-0.621000	0.05633|0.05633|0.05633	-0.378000|-0.378000|-0.378000	0.06908|0.06908|0.06908	GGA|CAG|AGG	-	NULL		0.552	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf74	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20558211	-1	no_errors	NM_020343.2	genbank	human	validated	54_36p	missense	SNP	0.972	A	A	20610211	C	A	20610211	3	1	35	1	0	0	0	0	1	0	0	0	13014	680	24	4	4712	4	RALGAPA2	20	20610211	Missense_Mutation	SNP	C	TCGA-AB-2839-03B-01W-0728-08		20610211	42415309	20	392											
IGSF5	150084	genome.wustl.edu	37	21	41143070	41143070	+	Missense_Mutation	SNP	G	G	A	rs117910095		TCGA-AB-2839-03B-01W-0728-08	TCGA-AB-2839-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e46ca5db-40a6-4119-8f57-d5739cce62fe	2702acd2-a374-44e7-b9d5-c5caecdcbea0	g.chr21:41143070G>A	ENST00000380588.4	+	4	749	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	216	Ig-like V-type 2.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TTTGACTTGCGTGGCTACCTG	0.502													G|||	1	0.000199681	0	0	5008	,	,		16569	0		0.001	False		,,,				2504	0					dbGAP											0			21						G	MET/VAL	0,4406	2.1+/-5.4	0,0,2203	74	71	72		646	2.3	0.8	21	dbSNP_132	72	5,8595	4.3+/-15.6	0,5,4295	yes	missense	IGSF5	NM_001080444.1	21	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	probably-damaging	216/408	41143070	5,13001	2203	4300	6503	40064940	SO:0001583	missense	0				CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5952	protein-coding gene	gene with protein product	"junctional adhesion molecule 4"	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.646G>A	21.37:g.41143070G>A	ENSP00000369962:p.Val216Met	36	5.26	2					40064940	42	44	33		Missense_Mutation	SNP	HMMSmart_IG,HMMPfam_I-set,superfamily_SSF48726	p.V216M	ENST00000380588.4	37	c.646	CCDS33562.1	21	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.77	1.444394	0.25987	0.0	5.81E-4	ENSG00000183067	ENST00000380588	T	0.10477	2.87	5.12	2.33	0.28932	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.465144	0.22581	N	0.058209	T	0.14743	0.0356	L	0.50333	1.59	0.31962	N	0.608248	D	0.61697	0.99	P	0.55011	0.766	T	0.14643	-1.0465	10	0.42905	T	0.14	-14.4481	2.8032	0.05420	0.1623:0.1343:0.5477:0.1558	.	216	Q9NSI5	IGSF5_HUMAN	M	216	ENSP00000369962:V216M	ENSP00000369962:V216M	V	+	1	0	IGSF5	40064940	0.991000	0.36638	0.836000	0.33094	0.080000	0.17528	1.286000	0.33273	0.399000	0.25367	-0.119000	0.15052	GTG	-	HMMSmart_IG,superfamily_SSF48726		0.502	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IGSF5	protein_coding	OTTHUMT00000195005.1	G			40064940	1	no_errors	NM_001080444.1	genbank	human	provisional	54_36p	missense	SNP	0.992	A	A	41143070	G	A	41143070	3	1	35	1	0	0	0	0	1	0	0	0	7602	1145	40	1	660	1	IGSF5	21	41143070	Missense_Mutation	SNP	G	TCGA-AB-2839-03B-01W-0728-08		41143070	6986825	21	393											
FLT3	2322	genome.wustl.edu	37	13	28608248	28608249	+	In_Frame_Ins	INS	-	-	ATTTGAGATCATATTCAT			TCGA-AB-2840-03D-01W-0755-09	TCGA-AB-2840-11D-01W-0755-09	-	-	-	ATTTGAGATCATATTCAT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cb122429-5b01-4fad-b498-b0342230b567	208175bb-18db-45f6-a725-84c2ae98d45f	g.chr13:28608248_28608249insATTTGAGATCATATTCAT	ENST00000241453.7	-	14	1888_1889	c.1807_1808insATGAATATGATCTCAAAT	c.(1807-1809)tgg>tATGAATATGATCTCAAATgg	p.602_603insYEYDLK	FLT3_ENST00000537084.1_In_Frame_Ins_p.602_603insYEYDLK|FLT3_ENST00000380982.4_In_Frame_Ins_p.602_603insYEYDLK	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	602					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K602_W603insYEYDLK(2)|p.602_603>GSSDNEYFYVDFREYEYDLT(1)|p.K602_W603insYEYDLKW(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAAACTCCCATTTGAGATCA	0.371			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	4	Insertion - In frame(3)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	13																																								27506249	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1790_1807dupATGAATATGATCTCAAAT	13.37:g.28608248_28608249insATTTGAGATCATATTCAT	ENSP00000241453:p.Tyr597_Lys602dup								27506248				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.603in_frame_insYEYDLK	ENST00000241453.7	37	c.1808_1807	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.371	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506249	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	ATTTGAGATCATATTCAT	ATTTGAGATCATATTCAT	28608249	-	ATTTGAGATCATATTCAT	28608248	7	5	36	1	0	1	1	0	0	0	0	0	5942	595	21	0	1217	0	FLT3	13	28608248	In_Frame_Ins	INS	-	TCGA-AB-2840-03D-01W-0755-09		28608248	86561630	1	394											
DAG1	1605	genome.wustl.edu	37	3	49568345	49568345	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2841-03B-01W-0728-08	TCGA-AB-2841-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a101f87f-d1fb-492c-88bb-715de3a865ad	404c79b4-f058-43dd-b1ff-581907da8da9	g.chr3:49568345G>A	ENST00000539901.1	+	3	959	c.401G>A	c.(400-402)aGc>aAc	p.S134N	DAG1_ENST00000308775.2_Missense_Mutation_p.S134N|DAG1_ENST00000545947.1_Missense_Mutation_p.S134N|DAG1_ENST00000515359.2_Missense_Mutation_p.S134N|DAG1_ENST00000538711.1_Missense_Mutation_p.S134N|DAG1_ENST00000541308.1_Missense_Mutation_p.S134N	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	134	Required for laminin recognition.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ATTTCAGTGAGCGCTACACGG	0.592																																						dbGAP											0			3											51	45	47					3																	49568345		2203	4300	6503	49543349	SO:0001583	missense	0			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"alpha-dystroglycan", "dystrophin-associated glycoprotein-1", "beta-dystroglycan"	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.401G>A	3.37:g.49568345G>A	ENSP00000439334:p.Ser134Asn	82	1.19	1		6	57.14	8	49543349	99	41.86	72	A8K6M7|Q969J9	Missense_Mutation	SNP	HMMSmart_CADG,HMMPfam_DAG1,superfamily_Cadherin,superfamily_SSF111006	p.S134N	ENST00000539901.1	37	c.401	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	G	3.957	-0.011003	0.07727	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	5.92	3.9	0.45041	Dystroglycan-type cadherin-like (1);Cadherin-like (1);Immunoglobulin-like fold (1);	0.293572	0.43747	N	0.000527	D	0.92090	0.7493	N	0.12182	0.205	0.31963	N	0.608211	B	0.18166	0.026	B	0.04013	0.001	D	0.86960	0.2091	9	.	.	.	-10.7005	3.3039	0.06993	0.2771:0.2177:0.5051:0.0	.	134	Q14118	DAG1_HUMAN	N	134	ENSP00000440705:S134N;ENSP00000312435:S134N;ENSP00000442600:S134N;ENSP00000440590:S134N;ENSP00000439334:S134N;ENSP00000438421:S134N	.	S	+	2	0	DAG1	49543349	0.815000	0.29118	0.945000	0.38365	0.252000	0.25951	1.397000	0.34543	1.502000	0.48669	0.655000	0.94253	AGC	-	HMMSmart_CADG,HMMPfam_DAG1,superfamily_Cadherin		0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	protein_coding	OTTHUMT00000346326.1	G			49543349	1	no_errors	NM_004393.2	genbank	human	reviewed	54_36p	missense	SNP	0.264	A	A	49568345	G	A	49568345	3	1	37	1	0	0	0	0	1	0	0	0	4225	971	34	2	407	2	DAG1	3	49568345	Missense_Mutation	SNP	G	TCGA-AB-2841-03B-01W-0728-08		49568345	148454085	1	395											
TBC1D2	55357	genome.wustl.edu	37	9	100971322	100971322	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2841-03B-01W-0728-08	TCGA-AB-2841-11B-01W-0729-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a101f87f-d1fb-492c-88bb-715de3a865ad	404c79b4-f058-43dd-b1ff-581907da8da9	g.chr9:100971322A>C	ENST00000375064.1	-	9	1816	c.1778T>G	c.(1777-1779)cTg>cGg	p.L593R	TBC1D2_ENST00000375066.5_Missense_Mutation_p.L593R|TBC1D2_ENST00000375063.1_Missense_Mutation_p.L133R|TBC1D2_ENST00000342112.5_Missense_Mutation_p.L375R|TBC1D2_ENST00000493589.2_5'UTR	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	593					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTCGAGGCCCAGCAGGTGGTG	0.627																																						dbGAP											0			9											137	145	143					9																	100971322		2203	4299	6502	100011143	SO:0001583	missense	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"prostate antigen recognized and identified by SEREX"	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375064.1:c.1778T>G	9.37:g.100971322A>C	ENSP00000364205:p.Leu593Arg	49	0	0		6	76.67	23	100011143	65	45.83	55	B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	HMMPfam_TBC,HMMSmart_TBC,superfamily_RabGAP_TBC,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729	p.L593R	ENST00000375064.1	37	c.1778		9	.	.	.	.	.	.	.	.	.	.	A	15.21	2.766174	0.49574	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112;ENST00000375063	T;T;T;T	0.09538	3.27;2.97;3.39;3.03	5.71	5.71	0.89125	.	0.155218	0.44688	D	0.000436	T	0.13114	0.0318	L	0.42245	1.32	0.80722	D	1	P;P	0.41313	0.745;0.54	B;B	0.41666	0.199;0.363	T	0.04413	-1.0953	10	0.33940	T	0.23	.	14.9602	0.71151	1.0:0.0:0.0:0.0	.	593;593	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	R	593;593;375;133	ENSP00000364205:L593R;ENSP00000364207:L593R;ENSP00000341567:L375R;ENSP00000364203:L133R	ENSP00000341567:L375R	L	-	2	0	TBC1D2	100011143	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.646000	0.46630	2.187000	0.69744	0.459000	0.35465	CTG	-	NULL		0.627	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	TBC1D2	protein_coding	OTTHUMT00000053366.1	A	NM_018421		100011143	-1	no_errors	NM_018421.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	100971322	A	C	100971322	3	2	37	1	0	0	0	0	1	0	0	0	15605	188	7	5	995	5	TBC1D2	9	100971322	Missense_Mutation	SNP	A	TCGA-AB-2841-03B-01W-0728-08		100971322	40242109	2	396											
KRT79	338785	genome.wustl.edu	37	12	53217985	53217985	+	Silent	SNP	G	G	A			TCGA-AB-2841-03B-01W-0728-08	TCGA-AB-2841-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a101f87f-d1fb-492c-88bb-715de3a865ad	404c79b4-f058-43dd-b1ff-581907da8da9	g.chr12:53217985G>A	ENST00000330553.5	-	5	1051	c.1017C>T	c.(1015-1017)acC>acT	p.T339T		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	339	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCTCACCTTGGTCTGGTACC	0.642																																						dbGAP											0			12											82	82	82					12																	53217985		2203	4300	6503	51504252	SO:0001819	synonymous_variant	0			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1017C>T	12.37:g.53217985G>A		88	0	0					51504252	72	47.83	66	Q6P465|Q7Z793	Silent	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.T339	ENST00000330553.5	37	c.1017	CCDS8839.1	12																																																																																			-	superfamily_Prefoldin,HMMPfam_Filament		0.642	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	protein_coding	OTTHUMT00000406376.1	G	NM_175834		51504252	-1	no_errors	NM_175834.2	genbank	human	validated	54_36p	silent	SNP	0.988	A	A	53217985	G	A	53217985	2	1	37	1	0	0	0	0	0	0	0	1	8492	1335	47	2		2	KRT79	12	53217985	Silent	SNP	G	TCGA-AB-2841-03B-01W-0728-08		53217985	80633910	3	397											
BAGE	85319	genome.wustl.edu	37	21	11098733	11098733	+	RNA	SNP	G	G	A			TCGA-AB-2841-03B-01W-0728-08	TCGA-AB-2841-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a101f87f-d1fb-492c-88bb-715de3a865ad	404c79b4-f058-43dd-b1ff-581907da8da9	g.chr21:11098733G>A	ENST00000470054.1	-	0	192							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tgctccggccgccatcttact	0.632																																						dbGAP											0			21											104	151	135					21																	11098733		2124	4261	6385	10120604			0			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"cancer/testis antigen family 2, member 2"					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098733G>A		76	0	0					10120604	56	19.44	14	A8K925|Q08ER0	Missense_Mutation	SNP	HMMPfam_BAGE	p.A2V	ENST00000470054.1	37	c.5		21																																																																																			-	HMMPfam_BAGE		0.632	BAGE2-001	KNOWN	basic	processed_transcript	BAGE4	pseudogene	OTTHUMT00000157417.3	G	NM_182482		10120604	-1	no_errors	NM_181704.1	genbank	human	provisional	54_36p	missense	SNP	0.000	A	A	11098733	G	A	11098733	1	1	37	0	1	0	0	0	0	0	0	0	1291	1087	38	1		1	BAGE	21	11098733	RNA	SNP	G	TCGA-AB-2841-03B-01W-0728-08		11098733	37031162	4	398											
KDM1A	23028	genome.wustl.edu	37	1	23405610	23405610	+	Silent	SNP	A	A	G			TCGA-AB-2842-03A-01W-0726-08	TCGA-AB-2842-11A-01W-0727-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c24211c8-c6c4-4955-9604-9192648877be	7a7b4a31-d23e-42a7-bfdc-87816eae594d	g.chr1:23405610A>G	ENST00000356634.3	+	15	2072	c.1923A>G	c.(1921-1923)ccA>ccG	p.P641P	KDM1A_ENST00000400181.4_Silent_p.P665P|KDM1A_ENST00000542151.1_Silent_p.P665P|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	641	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGTTTGTGCCACCTCTCCCTG	0.502																																						dbGAP											0			1											100	99	99					1																	23405610		2203	4300	6503	23278197	SO:0001819	synonymous_variant	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"Chromatin-modifying enzymes / K-demethylases"	29079	protein-coding gene	gene with protein product		609132	"amine oxidase (flavin containing) domain 2", "lysine (K)-specific demethylase 1"	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1923A>G	1.37:g.23405610A>G		84	8.7	8		40	42.03	29	23278197	41	48.1	38	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	HMMPfam_Amino_oxidase,HMMPfam_SWIRM,superfamily_FAD/NAD(P)-binding domain,superfamily_FAD-linked reductases C-terminal domain	p.P641	ENST00000356634.3	37	c.1923	CCDS30627.1	1																																																																																			-	HMMPfam_Amino_oxidase,superfamily_FAD/NAD(P)-binding domain		0.502	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AOF2	protein_coding	OTTHUMT00000008880.3	A	NM_015013		23278197	1	no_errors	NM_015013.2	genbank	human	reviewed	54_36p	silent	SNP	0.359	G	G	23405610	A	G	23405610	2	3	38	1	0	0	0	0	0	0	0	1	8122	146	6	3		3	KDM1A	1	23405610	Silent	SNP	A	TCGA-AB-2842-03A-01W-0726-08		23405610	225845011	1	399											
SMARCA2	6595	genome.wustl.edu	37	9	2081904	2081904	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2842-03A-01W-0726-08	TCGA-AB-2842-11A-01W-0727-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c24211c8-c6c4-4955-9604-9192648877be	7a7b4a31-d23e-42a7-bfdc-87816eae594d	g.chr9:2081904C>T	ENST00000382203.1	+	15	2466	c.2257C>T	c.(2257-2259)Ctt>Ttt	p.L753F	SMARCA2_ENST00000382194.1_Missense_Mutation_p.L753F|SMARCA2_ENST00000349721.2_Missense_Mutation_p.L753F|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L753F			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	753	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAAATGGGGCTTGGAAAGAC	0.423																																						dbGAP											0			9											223	185	198					9																	2081904		2203	4300	6503	2071904	SO:0001583	missense	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2257C>T	9.37:g.2081904C>T	ENSP00000371638:p.Leu753Phe	207	9.57	22		119	33.89	61	2071904	63	23.17	19	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	HMMPfam_SNF2_N,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HSA,HMMPfam_BRK,HMMSmart_SM00592,HMMSmart_SM00573,HMMSmart_SM00487,HMMPfam_QLQ,PatternScan_BROMODOMAIN_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L753F	ENST00000382203.1	37	c.2257	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	C	29.6	5.023212	0.93462	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.41	5.41	0.78517	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000003	D	0.99077	0.9683	H	0.98754	4.32	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.998	D	0.99044	1.0825	10	0.87932	D	0	-14.46	19.1951	0.93684	0.0:1.0:0.0:0.0	.	354;753;753	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	F	753	ENSP00000265773:L753F;ENSP00000349788:L753F;ENSP00000371638:L753F;ENSP00000371629:L753F	ENSP00000265773:L753F	L	+	1	0	SMARCA2	2071904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.031000	0.57267	2.552000	0.86080	0.591000	0.81541	CTT	-	HMMPfam_SNF2_N,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.423	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	protein_coding	OTTHUMT00000051505.1	C	NM_003070		2071904	1	no_errors	NM_003070.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	2081904	C	T	2081904	3	4	38	1	0	0	0	0	1	0	0	0	14769	797	28	2	2311	2	SMARCA2	9	2081904	Missense_Mutation	SNP	C	TCGA-AB-2842-03A-01W-0726-08		2081904	139131527	2	400											
MYCL1	4610	genome.wustl.edu	37	1	40363614	40363614	+	Silent	SNP	T	T	A			TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr1:40363614T>A	ENST00000372816.2	-	2	972	c.525A>T	c.(523-525)gtA>gtT	p.V175V	MYCL_ENST00000397332.2_Silent_p.V205V|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	175						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCCTCTTCTCTACTGTCACAA	0.478																																						dbGAP											0			1											76	79	78					1																	40363614		2203	4300	6503	40136201	SO:0001819	synonymous_variant	0				CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"Basic helix-loop-helix proteins"	7555	protein-coding gene	gene with protein product	"l-myc protein", "myc-related gene from lung cancer", "oncogene lmyc"	164850	"v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.525A>T	1.37:g.40363614T>A		195	1.01	2		2	60	3	40136201	57	37.36	34	A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Silent	SNP	HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_Myc_N	p.V175	ENST00000372816.2	37	c.525	CCDS30682.1	1																																																																																			-	HMMPfam_Myc_N		0.478	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYCL1	protein_coding	OTTHUMT00000277004.1	T	NM_001033082		40136201	-1	no_errors	NM_001033081.1	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	40363614	T	A	40363614	2	1	39	1	0	0	0	0	0	0	0	1	10020	1509	53	5		5	MYCL1	1	40363614	Silent	SNP	T	TCGA-AB-2843-03B-01W-0728-08		40363614	208887007	1	401											
CNGA3	1261	genome.wustl.edu	37	2	99012373	99012373	+	Missense_Mutation	SNP	C	C	T	rs148616345	byFrequency	TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr2:99012373C>T	ENST00000272602.2	+	7	779	c.740C>T	c.(739-741)aCg>aTg	p.T247M	CNGA3_ENST00000436404.2_Missense_Mutation_p.T229M|CNGA3_ENST00000409937.1_Missense_Mutation_p.T251M|CNGA3_ENST00000393504.1_Missense_Mutation_p.T247M			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	247			T -> M. {ECO:0000269|PubMed:24903488}.		cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AAGACGACCACGCAGTTCAAG	0.507													C|||	7	0.00139776	0.0015	0	5008	,	,		16960	0.005		0	False		,,,				2504	0					dbGAP											0			2						C	MET/THR,MET/THR	8,4398	14.3+/-33.2	0,8,2195	120	116	118		686,740	1.4	0.5	2	dbSNP_134	118	14,8586	11.2+/-40.8	0,14,4286	yes	missense,missense	CNGA3	NM_001079878.1,NM_001298.2	81,81	0,22,6481	TT,TC,CC		0.1628,0.1816,0.1692	benign,benign	229/677,247/695	99012373	22,12984	2203	4300	6503	98378805	SO:0001583	missense	0			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.740C>T	2.37:g.99012373C>T	ENSP00000272602:p.Thr247Met	268	0.74	2					98378805	53	44.21	42	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324	p.T247M	ENST00000272602.2	37	c.740	CCDS2034.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	0.027	-1.366459	0.01235	0.001816	0.001628	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.28	1.43	0.22495	Ion transport (1);	1.870490	0.01894	N	0.038783	D	0.92031	0.7475	N	0.04805	-0.155	0.09310	N	1	B;B;B	0.16166	0.016;0.001;0.005	B;B;B	0.19391	0.025;0.006;0.019	D	0.84915	0.0850	10	0.33940	T	0.23	.	8.5107	0.33215	0.0:0.0781:0.5349:0.387	.	251;229;247	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	M	247;229;247;251	ENSP00000377140:T247M;ENSP00000410070:T229M;ENSP00000272602:T247M;ENSP00000386761:T251M	ENSP00000272602:T247M	T	+	2	0	CNGA3	98378805	0.000000	0.05858	0.511000	0.27724	0.044000	0.14063	0.296000	0.19083	0.099000	0.17552	-0.505000	0.04504	ACG	-	HMMPfam_Ion_trans,superfamily_SSF81324		0.507	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	protein_coding	OTTHUMT00000252986.1	C	NM_001298		98378805	1	no_errors	NM_001298.1	genbank	human	reviewed	54_36p	missense	SNP	0.001	T	T	99012373	C	T	99012373	3	4	39	1	0	0	0	0	1	0	0	0	3598	536	19	1	766	1	CNGA3	2	99012373	Missense_Mutation	SNP	C	TCGA-AB-2843-03B-01W-0728-08		99012373	144187000	2	402											
KIT	3815	genome.wustl.edu	37	4	55564702	55564702	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr4:55564702C>T	ENST00000288135.5	+	3	687	c.590C>T	c.(589-591)tCg>tTg	p.S197L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	197	Ig-like C2-type 2.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAGTGCTGTCGGAAAAATTC	0.498		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0			4											104	94	98					4																	55564702		2203	4300	6503	55259459	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.590C>T	4.37:g.55564702C>T	ENSP00000288135:p.Ser197Leu	44	0	0		15	57.14	20	55259459	32	37.25	19	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.S197L	ENST00000288135.5	37	c.590	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836686	0.50951	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	D;D	0.81659	-1.52;-1.51	5.75	4.91	0.64330	Immunoglobulin-like fold (1);	0.113900	0.39834	N	0.001251	D	0.86548	0.5959	M	0.78637	2.42	0.53005	D	0.999969	D;D	0.71674	0.982;0.998	P;P	0.56216	0.674;0.794	D	0.88178	0.2869	10	0.87932	D	0	.	12.9428	0.58354	0.0:0.9253:0.0:0.0747	.	197;197	P10721-2;P10721	.;KIT_HUMAN	L	197	ENSP00000288135:S197L;ENSP00000390987:S197L	ENSP00000288135:S197L	S	+	2	0	KIT	55259459	0.999000	0.42202	0.062000	0.19696	0.022000	0.10575	5.295000	0.65692	1.440000	0.47531	0.643000	0.83706	TCG	-	NULL		0.498	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	C			55259459	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	0.086	T	T	55564702	C	T	55564702	3	4	39	1	0	0	0	0	1	0	0	0	8329	893	31	1	600	1	KIT	4	55564702	Missense_Mutation	SNP	C	TCGA-AB-2843-03B-01W-0728-08		55564702	135589574	3	403											
KIT	3815	genome.wustl.edu	37	4	55599321	55599321	+	Missense_Mutation	SNP	A	A	T	rs121913507		TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr4:55599321A>T	ENST00000288135.5	+	17	2544	c.2447A>T	c.(2446-2448)gAc>gTc	p.D816V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816V(758)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCAGAGACATCAAGAAT	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	770	Substitution - Missense(769)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(745)|testis(16)|ovary(5)|skin(2)|soft_tissue(1)|genital_tract(1)	4	GRCh37	CM952169	KIT	M	rs121913507						145	146	145					4																	55599321		2203	4300	6503	55294078	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2447A>T	4.37:g.55599321A>T	ENSP00000288135:p.Asp816Val	59	6.35	4		35	55.13	43	55294078	24	51.02	25	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D816V	ENST00000288135.5	37	c.2447	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831107	0.91036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.85093	0.5618	N	0.21097	0.63	0.80722	A	1	D;D	0.71674	0.998;0.991	D;D	0.68943	0.961;0.933	D	0.88419	0.3027	9	0.87932	D	0	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	V	816;812	ENSP00000288135:D816V;ENSP00000390987:D812V	ENSP00000288135:D816V	D	+	2	0	KIT	55294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.148000	0.66965	0.477000	0.44152	GAC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	A			55294078	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	55599321	A	T	55599321	3	4	39	1	0	0	0	0	1	0	0	0	8329	275	10	5	2513	5	KIT	4	55599321	Missense_Mutation	SNP	A	TCGA-AB-2843-03B-01W-0728-08	34619	55599321	135554955	4	404											
LRRTM2	26045	genome.wustl.edu	37	5	138209820	138209820	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr5:138209820G>C	ENST00000274711.6	-	2	808	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000540387.1_5'Flank|LRRTM2_ENST00000518785.1_Intron|LRRTM2_ENST00000523537.1_Intron	NM_015564.2	NP_056379.1	O43300	LRRT2_HUMAN	leucine rich repeat transmembrane neuronal 2	144					long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GATGACAGCTGATTAAAAGAC	0.423																																						dbGAP											0			5											53	55	54					5																	138209820		1875	4113	5988	138237719	SO:0001583	missense	0			AB007876	CCDS47272.1	5q31	2008-02-05				ENSG00000146006			19409	protein-coding gene	gene with protein product		610868				12676565	Standard	NM_015564		Approved	KIAA0416	uc011cyz.1	O43300		ENST00000274711.6:c.430C>G	5.37:g.138209820G>C	ENSP00000274711:p.Gln144Glu	203	0	0		0	0	0	138237719	98	30	42	A0AVL3|A8K4U9|B7ZLN8|Q7L770	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like	p.Q144E	ENST00000274711.6	37	c.430	CCDS47272.1	5	.	.	.	.	.	.	.	.	.	.	G	9.057	0.993466	0.19043	.	.	ENSG00000146006	ENST00000274711	T	0.55588	0.51	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.42108	0.1188	L	0.48935	1.535	0.58432	D	0.99999	P	0.38922	0.651	B	0.30401	0.115	T	0.30446	-0.9978	10	0.28530	T	0.3	.	14.0608	0.64800	0.0:0.0:0.8493:0.1507	.	144	O43300	LRRT2_HUMAN	E	144	ENSP00000274711:Q144E	ENSP00000274711:Q144E	Q	-	1	0	LRRTM2	138237719	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.459000	0.66685	2.865000	0.98341	0.655000	0.94253	CAG	-	HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like		0.423	LRRTM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM2	protein_coding	OTTHUMT00000374043.2	G			138237719	-1	no_errors	NM_015564.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	138209820	G	C	138209820	3	2	39	1	0	0	0	0	1	0	0	0	9040	1299	45	4	1124	4	LRRTM2	5	138209820	Missense_Mutation	SNP	G	TCGA-AB-2843-03B-01W-0728-08		138209820	42705440	5	405											
CD74	972	genome.wustl.edu	37	5	149792285	149792285	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr5:149792285G>A	ENST00000009530.7	-	1	29	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	CD74_ENST00000524315.1_Missense_Mutation_p.R10W|CD74_ENST00000353334.6_Missense_Mutation_p.R10W|CD74_ENST00000377795.3_Missense_Mutation_p.R10W			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	10					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)	p.R10W(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATCTTCCCGACAGCTCCTG	0.612			T	ROS1	NSCLC																																	dbGAP		Dom	yes		5	5q32	972	"CD74 molecule, major histocompatibility complex, class II invariant chain"		E	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											152	153	153					5																	149792285		2203	4300	6503	149772478	SO:0001583	missense	0				CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.28C>T	5.37:g.149792285G>A	ENSP00000009530:p.Arg10Trp	266	0.37	1		4335	45.83	3678	149772478	51	41.38	36	A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_MHCassoc_trimer,superfamily_Class II MHC-associated invariant chain ectoplasmic trimerization domain,HMMPfam_MHC2-interact	p.R10W	ENST00000009530.7	37	c.28	CCDS47309.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.496|5.496	0.276441|0.276441	0.10403|0.10403	.|.	.|.	ENSG00000019582|ENSG00000019582	ENST00000377795;ENST00000353334;ENST00000524315;ENST00000009530|ENST00000518797	T|.	0.59638|.	0.25|.	5.09|5.09	-0.158|-0.158	0.13383|0.13383	.|.	1.523410|.	0.04231|.	N|.	0.335207|.	T|T	0.08313|0.08313	0.0207|0.0207	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.28870|0.28870	-1.0030|-1.0030	10|5	0.72032|.	D|.	0.01|.	1.0452|1.0452	0.8313|0.8313	0.01131|0.01131	0.3006:0.3515:0.1527:0.1953|0.3006:0.3515:0.1527:0.1953	.|.	10;10;10;10|.	A9YLN4;P04233-3;P04233-2;P04233|.	.;.;.;HG2A_HUMAN|.	W|L	10|4	ENSP00000009530:R10W|.	ENSP00000009530:R10W|.	R|S	-|-	1|2	2|0	CD74|CD74	149772478|149772478	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.474000|-0.474000	0.06607|0.06607	-0.356000|-0.356000	0.08187|0.08187	-2.070000|-2.070000	0.00385|0.00385	CGG|TCG	-	NULL		0.612	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD74	protein_coding	OTTHUMT00000374178.1	G	NM_004355		149772478	-1	no_errors	NM_001025159.1	genbank	human	validated	54_36p	missense	SNP	0.002	A	A	149792285	G	A	149792285	3	1	39	1	0	0	0	0	1	0	0	0	3035	1057	37	1	898	1	CD74	5	149792285	Missense_Mutation	SNP	G	TCGA-AB-2843-03B-01W-0728-08	11582465	149792285	31122975	6	406											
SPAM1	6677	genome.wustl.edu	37	7	123599598	123599598	+	Missense_Mutation	SNP	G	G	A	rs200074039	byFrequency	TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr7:123599598G>A	ENST00000439500.1	+	6	1718	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	SPAM1_ENST00000340011.5_Missense_Mutation_p.V369I|SPAM1_ENST00000460182.1_Missense_Mutation_p.V369I|SPAM1_ENST00000402183.2_Missense_Mutation_p.V369I|SPAM1_ENST00000223028.7_Missense_Mutation_p.V369I	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	369					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CATAATCAACGTCACACTAGC	0.388													G|||	2	0.000399361	0	0	5008	,	,		18274	0.002		0	False		,,,				2504	0					dbGAP											0			7											101	93	96					7																	123599598		2203	4300	6503	123386834	SO:0001583	missense	0			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1105G>A	7.37:g.123599598G>A	ENSP00000402123:p.Val369Ile	228	0.87	2					123386834	67	37.96	41	Q8TC30	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_56,superfamily_Glyco_hydro_cat	p.V369I	ENST00000439500.1	37	c.1105	CCDS5791.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.84	2.356231	0.41700	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.87	0.6	0.17524	.	0.195589	0.43919	N	0.000520	T	0.41949	0.1181	M	0.84511	2.7	0.36154	D	0.847674	P;D	0.56287	0.94;0.975	P;P	0.50378	0.518;0.639	T	0.51513	-0.8696	10	0.72032	D	0.01	-14.2531	6.8597	0.24060	0.2781:0.1135:0.6084:0.0	.	369;369	Q8TC30;P38567	.;HYALP_HUMAN	I	369	ENSP00000386028:V369I;ENSP00000417934:V369I;ENSP00000345849:V369I;ENSP00000402123:V369I;ENSP00000223028:V369I	ENSP00000223028:V369I	V	+	1	0	SPAM1	123386834	1.000000	0.71417	0.083000	0.20561	0.007000	0.05969	3.726000	0.54977	-0.093000	0.12396	-0.880000	0.02959	GTC	-	HMMPfam_Glyco_hydro_56		0.388	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	protein_coding	OTTHUMT00000348309.1	G			123386834	1	no_errors	NM_003117.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	123599598	G	A	123599598	3	1	39	1	0	0	0	0	1	0	0	0	14986	1145	40	1	1115	1	SPAM1	7	123599598	Missense_Mutation	SNP	G	TCGA-AB-2843-03B-01W-0728-08		123599598	35539065	7	407											
TLR4	7099	genome.wustl.edu	37	9	120475317	120475320	+	Frame_Shift_Del	DEL	TTAA	TTAA	-			TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	TTAA	TTAA	TTAA	-	TTAA	TTAA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr9:120475317_120475320delTTAA	ENST00000355622.6	+	3	1012_1015	c.911_914delTTAA	c.(910-915)tttaatfs	p.FN304fs	TLR4_ENST00000394487.4_Frame_Shift_Del_p.FN264fs|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	304					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ATTGACTTATTTAATTGTTTGACA	0.338																																						dbGAP											0			9																																								119515141	SO:0001589	frameshift_variant	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"CD molecules"	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.911_914delTTAA	9.37:g.120475317_120475320delTTAA	ENSP00000363089:p.Phe304fs								119515138				A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Frame_Shift_Del	DEL	HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like	p.N305fs	ENST00000355622.6	37	c.911_914	CCDS6818.1	9																																																																																			-	superfamily_L domain-like		0.338	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	protein_coding	OTTHUMT00000055549.3	TTAA	NM_138554		119515141	1	no_errors	NM_138554.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.040:0.049:0.060:0.352	-	-	120475320	TTAA	-	120475317	7	5	39	1	0	1	0	1	0	0	0	0	15950	1841	64	0	921	0	TLR4	9	120475317	Frame_Shift_Del	DEL	TTAA	TCGA-AB-2843-03B-01W-0728-08		120475317	20738114	8	408											
PLCE1	51196	genome.wustl.edu	37	10	95931194	95931194	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr10:95931194C>A	ENST00000371380.3	+	3	1985	c.1750C>A	c.(1750-1752)Ctt>Att	p.L584I	PLCE1_ENST00000371375.1_Missense_Mutation_p.L276I|PLCE1_ENST00000260766.3_Missense_Mutation_p.L584I|PLCE1_ENST00000371385.3_Missense_Mutation_p.L276I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	584	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)				AGCGTCGATTCTTACCACTCA	0.488																																						dbGAP											0			10											122	120	121					10																	95931194		2031	4197	6228	95921184	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.1750C>A	10.37:g.95931194C>A	ENSP00000360431:p.Leu584Ile	470	0	0					95921184	206	19.46	50	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.L584I	ENST00000371380.3	37	c.1750	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	9.413	1.080928	0.20309	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.26223	1.75;1.75;1.77;1.77	5.84	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.228496	0.37530	N	0.002050	T	0.18923	0.0454	N	0.19112	0.55	0.30581	N	0.762557	B;B;B	0.25667	0.064;0.052;0.131	B;B;B	0.32980	0.156;0.05;0.11	T	0.16100	-1.0414	10	0.23891	T	0.37	.	12.0712	0.53618	0.1363:0.7329:0.1308:0.0	.	584;276;584	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	584;584;276;276	ENSP00000260766:L584I;ENSP00000360431:L584I;ENSP00000360438:L276I;ENSP00000360426:L276I	ENSP00000260766:L584I	L	+	1	0	PLCE1	95921184	1.000000	0.71417	0.528000	0.27938	0.024000	0.10985	4.224000	0.58593	1.482000	0.48325	-0.127000	0.14921	CTT	-	HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF		0.488	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95921184	1	no_errors	NM_016341.3	genbank	human	validated	54_36p	missense	SNP	0.239	A	A	95931194	C	A	95931194	3	1	39	1	0	0	0	0	1	0	0	0	12034	913	32	4	2046	4	PLCE1	10	95931194	Missense_Mutation	SNP	C	TCGA-AB-2843-03B-01W-0728-08		95931194	39603553	9	409											
SYT1	6857	genome.wustl.edu	37	12	79611354	79611354	+	Missense_Mutation	SNP	G	G	A	rs144005237		TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr12:79611354G>A	ENST00000261205.4	+	4	712	c.55G>A	c.(55-57)Gcg>Acg	p.A19T	SYT1_ENST00000457153.2_Missense_Mutation_p.A19T|SYT1_ENST00000393240.3_Missense_Mutation_p.A19T|SYT1_ENST00000552744.1_Missense_Mutation_p.A19T	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CACCACTGTCGCGACTGTTCT	0.532																																						dbGAP											0			12						G	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	56	56	56		55,55,55	4.6	0.1	12	dbSNP_134	56	0,8600		0,0,4300	no	missense,missense,missense	SYT1	NM_001135805.1,NM_001135806.1,NM_005639.2	58,58,58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	19/423,19/423,19/423	79611354	1,13005	2203	4300	6503	78135485	SO:0001583	missense	0				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"Synaptotagmins"	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.55G>A	12.37:g.79611354G>A	ENSP00000261205:p.Ala19Thr	71	0	0					78135485	54	37.21	32	Q6AI31	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.A19T	ENST00000261205.4	37	c.55	CCDS9017.1	12	.	.	.	.	.	.	.	.	.	.	G	10.65	1.408521	0.25378	2.27E-4	0.0	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.59906	0.25;0.25;0.23;0.25;1.89;2.48	5.51	4.62	0.57501	.	0.303302	0.37095	N	0.002258	T	0.44477	0.1295	L	0.36672	1.1	0.54753	D	0.999981	B;B	0.12630	0.006;0.006	B;B	0.04013	0.001;0.001	T	0.28681	-1.0036	10	0.18710	T	0.47	.	11.2104	0.48795	0.1472:0.0:0.8528:0.0	.	19;19	Q6AI31;P21579	.;SYT1_HUMAN	T	19	ENSP00000376932:A19T;ENSP00000261205:A19T;ENSP00000391056:A19T;ENSP00000447575:A19T;ENSP00000448861:A19T;ENSP00000401559:A19T	ENSP00000261205:A19T	A	+	1	0	SYT1	78135485	0.939000	0.31865	0.063000	0.19743	0.137000	0.21094	2.024000	0.41049	1.321000	0.45227	0.643000	0.83706	GCG	-	NULL		0.532	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT1	protein_coding	OTTHUMT00000259415.1	G	NM_005639		78135485	1	no_errors	NM_005639.1	genbank	human	validated	54_36p	missense	SNP	0.964	A	A	79611354	G	A	79611354	3	1	39	1	0	0	0	0	1	0	0	0	15462	1087	38	1	57	1	SYT1	12	79611354	Missense_Mutation	SNP	G	TCGA-AB-2843-03B-01W-0728-08		79611354	54240541	10	410											
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	21						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	43397525	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	69	0	0		48	55.96	61	43397525	12	52	13	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	G	NM_006758		43397525	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	44524456	G	A	44524456	3	1	39	1	0	0	0	0	1	0	0	0	16818	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-AB-2843-03B-01W-0728-08		44524456	3605439	11	411											
POLDIP3	84271	genome.wustl.edu	37	22	42998992	42998992	+	Silent	SNP	A	A	G			TCGA-AB-2843-03B-01W-0728-08	TCGA-AB-2843-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c6bf38cf-18b1-46e2-99b5-e0b6a0fc7592	47f0907e-96b3-46c2-9acb-198105f451e7	g.chr22:42998992A>G	ENST00000252115.5	-	2	338	c.234T>C	c.(232-234)ctT>ctC	p.L78L	POLDIP3_ENST00000339677.6_Silent_p.L78L|POLDIP3_ENST00000348657.2_Silent_p.L78L|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000451060.2_5'Flank	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	78					poly(A)+ mRNA export from nucleus (GO:0016973)|positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTTTCTGCAAAAGCTTCTCCC	0.562																																					Ovarian(52;967 1128 5875 19997 42537)	dbGAP											0			22											95	93	94					22																	42998992		2203	4300	6503	41328936	SO:0001819	synonymous_variant	0				CCDS14038.1, CCDS14039.1, CCDS74873.1	22q13.31	2013-02-12			ENSG00000100227	ENSG00000100227		"RNA binding motif (RRM) containing"	23782	protein-coding gene	gene with protein product		611520				12522211	Standard	NM_032311		Approved	PDIP46, KIAA1649	uc003bcu.3	Q9BY77	OTTHUMG00000150887	ENST00000252115.5:c.234T>C	22.37:g.42998992A>G		269	2.18	6		35	42.62	26	41328936	32	58.44	45	A8K6F8|A8K6V9|Q009A7|Q5H972|Q6PGN6|Q7Z6Z0|Q9NSP5|Q9NSP6	Silent	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.L78	ENST00000252115.5	37	c.234	CCDS14038.1	22																																																																																			-	NULL		0.562	POLDIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLDIP3	protein_coding	OTTHUMT00000320433.1	A	NM_032311		41328936	-1	no_errors	NM_032311.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	G	G	42998992	A	G	42998992	2	3	39	1	0	0	0	0	0	0	0	1	12195	1	1	3		3	POLDIP3	22	42998992	Silent	SNP	A	TCGA-AB-2843-03B-01W-0728-08		42998992	8305574	12	412											
PRPF3	9129	genome.wustl.edu	37	1	150310718	150310718	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr1:150310718T>C	ENST00000324862.6	+	8	1283	c.1118T>C	c.(1117-1119)aTt>aCt	p.I373T	PRPF3_ENST00000414970.2_Missense_Mutation_p.I324T|PRPF3_ENST00000543398.1_Missense_Mutation_p.I238T|PRPF3_ENST00000467329.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	373					mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTTGCCCTCATTGCTCCTAAG	0.433																																					Ovarian(168;1070 2670 5178 20729)	dbGAP											0			1											119	106	110					1																	150310718		2203	4300	6503	148577342	SO:0001583	missense	0			AF001947	CCDS951.1	1q21.1	2013-07-16	2013-06-10		ENSG00000117360	ENSG00000117360			17348	protein-coding gene	gene with protein product		607301	"retinitis pigmentosa 18 (autosomal dominant)", "PRP3 pre-mRNA processing factor 3 homolog (yeast)", "PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	RP18			Standard	NM_004698		Approved	Prp3, hPrp3, SNRNP90	uc001eum.4	O43395	OTTHUMG00000012807	ENST00000324862.6:c.1118T>C	1.37:g.150310718T>C	ENSP00000315379:p.Ile373Thr	470	8.3	43		42	50.59	43	148577342	42	50	42	B4DSY9|O43446|Q5VT54	Missense_Mutation	SNP	HMMPfam_PWI,HMMSmart_SM00311,HMMPfam_PRP3,superfamily_PWI domain	p.I373T	ENST00000324862.6	37	c.1118	CCDS951.1	1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.675920	0.88445	.	.	ENSG00000117360	ENST00000324862;ENST00000414970;ENST00000543398	D;D;D	0.85013	-1.93;-1.93;-1.93	5.9	4.71	0.59529	Pre-mRNA-splicing factor 3 (1);	0.093695	0.64402	D	0.000001	D	0.88897	0.6562	M	0.82517	2.595	0.80722	D	1	P;P	0.52316	0.952;0.952	P;P	0.61275	0.886;0.816	D	0.87571	0.2478	10	0.30854	T	0.27	-9.8372	12.8311	0.57746	0.0:0.0:0.136:0.864	.	324;373	E7EVD1;O43395	.;PRPF3_HUMAN	T	373;324;238	ENSP00000315379:I373T;ENSP00000387844:I324T;ENSP00000445421:I238T	ENSP00000315379:I373T	I	+	2	0	PRPF3	148577342	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	5.951000	0.70273	2.266000	0.75297	0.528000	0.53228	ATT	-	HMMPfam_PRP3		0.433	PRPF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF3	protein_coding	OTTHUMT00000035836.1	T	NM_004698		148577342	1	no_errors	NM_004698.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	150310718	T	C	150310718	3	2	40	1	0	0	0	0	1	0	0	0	12565	1493	52	3	1144	3	PRPF3	1	150310718	Missense_Mutation	SNP	T	TCGA-AB-2844-03B-01W-0728-08		150310718	98939903	1	413											
PSME4	23198	genome.wustl.edu	37	2	54128663	54128663	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr2:54128663C>A	ENST00000404125.1	-	28	3164	c.3109G>T	c.(3109-3111)Ggt>Tgt	p.G1037C	PSME4_ENST00000421748.2_Missense_Mutation_p.G181C	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1037					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAGCACACACCACTGTGATTT	0.438																																						dbGAP											0			2											126	121	123					2																	54128663		2203	4300	6503	53982167	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3109G>T	2.37:g.54128663C>A	ENSP00000384211:p.Gly1037Cys	96	8.57	9		19	56.82	25	53982167	34	60.92	53	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM repeat	p.G923C	ENST00000404125.1	37	c.2767	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269150	0.80469	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.65732	-0.17;-0.17	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.049026	0.85682	D	0.000000	T	0.73745	0.3626	L	0.42245	1.32	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;P	0.69479	0.964;0.924;0.848	T	0.72629	-0.4235	10	0.46703	T	0.11	.	19.6148	0.95629	0.0:1.0:0.0:0.0	.	412;181;1037	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	C	181;1037	ENSP00000410830:G181C;ENSP00000384211:G1037C	ENSP00000384211:G1037C	G	-	1	0	PSME4	53982167	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.634000	0.89283	0.557000	0.71058	GGT	-	superfamily_ARM repeat		0.438	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	protein_coding	OTTHUMT00000324163.1	C	XM_040158		53982167	-1	no_errors	NM_014614.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	54128663	C	A	54128663	3	1	40	1	0	0	0	0	1	0	0	0	12709	594	21	4	2498	4	PSME4	2	54128663	Missense_Mutation	SNP	C	TCGA-AB-2844-03B-01W-0728-08		54128663	189070710	2	414											
SENP7	57337	genome.wustl.edu	37	3	101136588	101136588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr3:101136588G>A	ENST00000394095.2	-	5	384	c.331C>T	c.(331-333)Cga>Tga	p.R111*	SENP7_ENST00000358203.3_Intron|SENP7_ENST00000394094.2_Nonsense_Mutation_p.R111*|SENP7_ENST00000314261.7_Intron|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000348610.3_Nonsense_Mutation_p.R78*	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	111						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R111G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGAATTTTCGTCCTAAATCC	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)	3											147	143	144					3																	101136588		1890	4111	6001	102619278	SO:0001587	stop_gained	0				CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"SUMO1/sentrin specific protease 7"			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.331C>T	3.37:g.101136588G>A	ENSP00000377655:p.Arg111*	116	6.45	8		8	42.86	6	102619278	54	46.53	47	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Nonsense_Mutation	SNP	HMMPfam_Peptidase_C48,superfamily_Cysteine proteinases	p.R111*	ENST00000394095.2	37	c.331	CCDS2941.2	3	.	.	.	.	.	.	.	.	.	.	G	33	5.221039	0.95139	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000348610	.	.	.	5.52	5.52	0.82312	.	0.000000	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.2237	12.6357	0.56683	0.0:0.0:0.7933:0.2067	.	.	.	.	X	111;111;78	.	ENSP00000342159:R78X	R	-	1	2	SENP7	102619278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.945000	0.56637	2.754000	0.94517	0.650000	0.86243	CGA	-	NULL		0.373	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP7	protein_coding	OTTHUMT00000313957.2	G	NM_020654		102619278	-1	no_errors	NM_020654.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	A	A	101136588	G	A	101136588	4	1	40	1	0	0	0	0	0	1	0	0	14051	1153	40	1	2901	1	SENP7	3	101136588	Nonsense_Mutation	SNP	G	TCGA-AB-2844-03B-01W-0728-08		101136588	96885842	3	415											
TRA2B	6434	genome.wustl.edu	37	3	185643365	185643365	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr3:185643365G>C	ENST00000453386.2	-	3	495	c.220C>G	c.(220-222)Cgc>Ggc	p.R74G	TRA2B_ENST00000382191.4_5'UTR|TRA2B_ENST00000471134.1_5'Flank	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	74	Arg/Ser-rich (RS1 domain).				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GAGCGGGAGCGAGACCGTGAC	0.507																																						dbGAP											0			3											125	115	118					3																	185643365		2203	4300	6503	187126059	SO:0001583	missense	0			AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"RNA binding motif (RRM) containing"	10781	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 156"	602719	"splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.220C>G	3.37:g.185643365G>C	ENSP00000416959:p.Arg74Gly	137	5.48	8		150	45.09	124	187126059	31	53.62	37	B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.R74G	ENST00000453386.2	37	c.220	CCDS33905.1	3	.	.	.	.	.	.	.	.	.	.	G	19.16	3.774012	0.69992	.	.	ENSG00000136527	ENST00000453386	T	0.40476	1.03	6.17	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.44244	0.1284	M	0.74881	2.28	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.40905	-0.9538	10	0.14656	T	0.56	-2.5224	16.3222	0.82954	0.0:0.1326:0.8674:0.0	.	74;74	B2RDQ3;P62995	.;TRA2B_HUMAN	G	74	ENSP00000416959:R74G	ENSP00000416959:R74G	R	-	1	0	TRA2B	187126059	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	9.835000	0.99442	1.585000	0.49928	0.655000	0.94253	CGC	-	NULL		0.507	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRA2B	protein_coding	OTTHUMT00000344984.1	G	NM_004593		187126059	-1	no_errors	NM_004593.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	185643365	G	C	185643365	3	2	40	1	0	0	0	0	1	0	0	0	16431	1058	37	4	674	4	TRA2B	3	185643365	Missense_Mutation	SNP	G	TCGA-AB-2844-03B-01W-0728-08	84506777	185643365	12379065	4	416											
MUC17	140453	genome.wustl.edu	37	7	100691294	100691294	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr7:100691294T>C	ENST00000306151.4	+	4	12497	c.12433T>C	c.(12433-12435)Tct>Cct	p.S4145P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4145	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAATACGGCCTCTCGCTGCAA	0.527																																						dbGAP											0			7											142	132	135					7																	100691294		2203	4300	6503	100478014	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"Mucins"	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12433T>C	7.37:g.100691294T>C	ENSP00000302716:p.Ser4145Pro	184	4.06	8					100478014	11	52.17	12	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_1,superfamily_EGF/Laminin,superfamily_SEA domain	p.S4145P	ENST00000306151.4	37	c.12433	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	T	4.594	0.110396	0.08780	.	.	ENSG00000169876	ENST00000306151	T	0.01918	4.56	3.22	-2.9	0.05648	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.14023	0.01	T	0.47586	-0.9106	9	0.33141	T	0.24	.	1.1466	0.01776	0.4474:0.2654:0.1377:0.1495	.	4145	Q685J3	MUC17_HUMAN	P	4145	ENSP00000302716:S4145P	ENSP00000302716:S4145P	S	+	1	0	MUC17	100478014	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-3.473000	0.00459	-0.246000	0.09611	-0.940000	0.02684	TCT	-	superfamily_EGF/Laminin		0.527	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	T	NM_001040105		100478014	1	no_errors	NM_001040105.1	genbank	human	provisional	54_36p	missense	SNP	0.000	C	C	100691294	T	C	100691294	3	2	40	1	0	0	0	0	1	0	0	0	9974	1551	54	3	12447	3	MUC17	7	100691294	Missense_Mutation	SNP	T	TCGA-AB-2844-03B-01W-0728-08		100691294	58447369	5	417											
SLC18A1	6570	genome.wustl.edu	37	8	20038468	20038468	+	Missense_Mutation	SNP	C	C	T	rs537191588		TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr8:20038468C>T	ENST00000276373.5	-	2	274	c.8G>A	c.(7-9)cGg>cAg	p.R3Q	SLC18A1_ENST00000440926.1_Missense_Mutation_p.R3Q|SLC18A1_ENST00000437980.1_Missense_Mutation_p.R3Q|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R3Q|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R3Q|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R3Q	NM_003053.3	NP_003044.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	3					monoamine transport (GO:0015844)|neurotransmitter transport (GO:0006836)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	drug transmembrane transporter activity (GO:0015238)|monoamine transmembrane transporter activity (GO:0008504)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)	Ephedra(DB01363)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Reserpine(DB00206)	CAGAATGGTCCGGAGCATGGT	0.612													C|||	1	0.000199681	8e-04	0	5008	,	,		13345	0		0	False		,,,				2504	0					dbGAP											0			8											44	37	39					8																	20038468		2199	4296	6495	20082748	SO:0001583	missense	0				CCDS6013.1, CCDS47814.1, CCDS47815.1	8p21.3	2013-07-18	2013-07-18		ENSG00000036565	ENSG00000036565		"Solute carriers"	10934	protein-coding gene	gene with protein product		193002		VMAT1, VAT1			Standard	NM_003053		Approved	CGAT	uc003wzm.3	P54219	OTTHUMG00000097017	ENST00000276373.5:c.8G>A	8.37:g.20038468C>T	ENSP00000276373:p.Arg3Gln	111	7.38	9					20082748	33	38.89	21	E9PDJ5|Q9BRE4	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.R3Q	ENST00000276373.5	37	c.8	CCDS6013.1	8	.	.	.	.	.	.	.	.	.	.	C	10.65	1.411071	0.25465	.	.	ENSG00000036565	ENST00000265808;ENST00000276373;ENST00000440926;ENST00000437980;ENST00000519026;ENST00000381608;ENST00000522513	T;T;T;T;T;T;T	0.04360	3.91;3.91;3.91;3.86;3.91;3.86;3.64	5.71	0.233	0.15386	.	0.766204	0.12179	N	0.492234	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	B;B;B	0.19073	0.033;0.019;0.019	B;B;B	0.06405	0.002;0.002;0.002	T	0.44667	-0.9313	10	0.38643	T	0.18	-1.2454	3.8693	0.09030	0.0:0.3876:0.1854:0.4271	.	3;3;3	E9PB33;E9PDJ5;P54219	.;.;VMAT1_HUMAN	Q	3	ENSP00000265808:R3Q;ENSP00000276373:R3Q;ENSP00000387549:R3Q;ENSP00000413361:R3Q;ENSP00000429664:R3Q;ENSP00000371021:R3Q;ENSP00000428999:R3Q	ENSP00000265808:R3Q	R	-	2	0	SLC18A1	20082748	0.000000	0.05858	0.586000	0.28679	0.187000	0.23431	-0.339000	0.07832	0.350000	0.24002	0.655000	0.94253	CGG	-	NULL		0.612	SLC18A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A1	protein_coding	OTTHUMT00000214106.1	C			20082748	-1	no_errors	NM_003053.2	genbank	human	validated	54_36p	missense	SNP	0.065	T	T	20038468	C	T	20038468	3	4	40	1	0	0	0	0	1	0	0	0	14425	652	23	1	1629	1	SLC18A1	8	20038468	Missense_Mutation	SNP	C	TCGA-AB-2844-03B-01W-0728-08		20038468	126325554	6	418											
SMC5	23137	genome.wustl.edu	37	9	72920272	72920272	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr9:72920272A>T	ENST00000361138.5	+	11	1632	c.1574A>T	c.(1573-1575)aAa>aTa	p.K525I		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	525	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						GTTTTCCTCAAAGAGGCAAGT	0.308																																						dbGAP											0			9											73	77	75					9																	72920272		2203	4299	6502	72110092	SO:0001583	missense	0			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"Structural maintenance of chromosomes proteins"	20465	protein-coding gene	gene with protein product		609386	"SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1574A>T	9.37:g.72920272A>T	ENSP00000354957:p.Lys525Ile	108	7.5	9		18	50	18	72110092	63	45.69	53	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	HMMPfam_SMC_N,superfamily_SSF52540	p.K525I	ENST00000361138.5	37	c.1574	CCDS6632.1	9	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182461	0.38511	.	.	ENSG00000198887	ENST00000361138	T	0.19806	2.12	5.46	1.86	0.25419	RecF/RecN/SMC (1);	0.676186	0.15455	N	0.261424	T	0.18467	0.0443	L	0.54323	1.7	0.23459	N	0.997634	B	0.09022	0.002	B	0.12837	0.008	T	0.21381	-1.0247	10	0.48119	T	0.1	-13.7895	5.896	0.18939	0.3632:0.0:0.4789:0.158	.	525	Q8IY18	SMC5_HUMAN	I	525	ENSP00000354957:K525I	ENSP00000354957:K525I	K	+	2	0	SMC5	72110092	0.957000	0.32711	0.999000	0.59377	0.998000	0.95712	0.028000	0.13644	0.068000	0.16574	0.533000	0.62120	AAA	-	HMMPfam_SMC_N,superfamily_SSF52540		0.308	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	protein_coding	OTTHUMT00000052603.1	A	NM_015110		72110092	1	no_errors	NM_015110.3	genbank	human	validated	54_36p	missense	SNP	0.794	T	T	72920272	A	T	72920272	3	4	40	1	0	0	0	0	1	0	0	0	14786	14	1	5	1616	5	SMC5	9	72920272	Missense_Mutation	SNP	A	TCGA-AB-2844-03B-01W-0728-08		72920272	68293159	7	419											
WT1	7490	genome.wustl.edu	37	11	32417910	32417911	+	Frame_Shift_Ins	INS	-	-	ACCGTACA	rs142937387		TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	-	-	-	ACCGTACA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr11:32417910_32417911insACCGTACA	ENST00000379079.2	-	7	778_779	c.505_506insTGTACGGT	c.(505-507)tcgfs	p.S169fs	WT1_ENST00000530998.1_Frame_Shift_Ins_p.S152fs|WT1_ENST00000448076.3_Frame_Shift_Ins_p.S381fs|WT1_ENST00000332351.3_Frame_Shift_Ins_p.S381fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	313					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A314fs*69(11)|p.S313*(9)|p.S313fs*70(7)|p.A314fs*3(3)|p.A314fs*6(2)|p.A314fs*7(2)|p.S313fs*4(2)|p.S313fs*6(2)|p.S313fs*71(2)|p.V311fs*3(2)|p.R301fs*3(1)|p.T309fs*4(1)|p.A314fs*4(1)|p.S313del(1)|p.A314fs*15(1)|p.S313fs*8(1)|p.S313fs*5(1)|p.L310fs*6(1)|p.R312fs*5(1)|p.?fs(1)|p.S313fs*12(1)|p.L310fs*63(1)|p.P308fs*67(1)|p.A314fs*68(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CTCAGATGCCGACCGTACAAGA	0.52			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	56	Insertion - Frameshift(37)|Substitution - Nonsense(9)|Complex - frameshift(5)|Deletion - Frameshift(4)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(53)|kidney(3)	11	GRCh37	CM971595	WT1	M	rs142937387																																			32374487	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.498_505dupTGTACGGT	11.37:g.32417911_32417918dupACCGTACA	ENSP00000368370:p.Ser169fs								32374486				A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.S381fs	ENST00000379079.2	37	c.1142_1141	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.52	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374487	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.996:0.996	ACCGTACA	ACCGTACA	32417911	-	ACCGTACA	32417910	7	5	40	1	0	1	1	0	0	0	0	0	17405	1059	37	0	427	0	WT1	11	32417910	Frame_Shift_Ins	INS	-	TCGA-AB-2844-03B-01W-0728-08		32417910	102588606	8	420											
KCNA1	3736	genome.wustl.edu	37	12	5020811	5020811	+	Silent	SNP	C	C	T	rs371963908		TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr12:5020811C>T	ENST00000382545.3	+	2	1374	c.267C>T	c.(265-267)ttC>ttT	p.F89F	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	89					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)	p.F89F(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	GGCCCAGCTTCGACGCCATCC	0.607																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)	12						C		0,4406		0,0,2203	56	59	58		267	3.4	1	12		58	1,8599		0,1,4299	no	coding-synonymous	KCNA1	NM_000217.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		89/496	5020811	1,13005	2203	4300	6503	4891072	SO:0001819	synonymous_variant	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.267C>T	12.37:g.5020811C>T		115	7.94	10					4891072	34	42.37	25	A6NM83|Q3MIQ9	Silent	SNP	HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324	p.F89	ENST00000382545.3	37	c.267	CCDS8535.1	12																																																																																			-	HMMSmart_BTB,HMMPfam_K_tetra,superfamily_BTB/POZ_fold		0.607	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	protein_coding	OTTHUMT00000103343.2	C	NM_000217		4891072	1	no_errors	NM_000217.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	5020811	C	T	5020811	2	4	40	1	0	0	0	0	0	0	0	1	8001	883	31	1		1	KCNA1	12	5020811	Silent	SNP	C	TCGA-AB-2844-03B-01W-0728-08		5020811	128831084	9	421											
FANCM	57697	genome.wustl.edu	37	14	45633583	45633583	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr14:45633583G>A	ENST00000267430.5	+	10	1688	c.1603G>A	c.(1603-1605)Ggt>Agt	p.G535S	FANCM_ENST00000542564.2_Missense_Mutation_p.G509S|FANCM_ENST00000556036.1_Missense_Mutation_p.G535S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	535	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTTTCGTGACGGTGGTTACAA	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0			14											115	113	113					14																	45633583		2203	4300	6503	44703333	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"Fanconi anemia, complementation groups"	23168	protein-coding gene	gene with protein product		609644	"KIAA1596"	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.1603G>A	14.37:g.45633583G>A	ENSP00000267430:p.Gly535Ser	122	5.38	7		2	60	3	44703333	102	41.71	73	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_ERCC4,superfamily_RuvA domain 2-like,superfamily_Restriction endonuclease-like,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G535S	ENST00000267430.5	37	c.1603	CCDS32070.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.545866	0.96488	.	.	ENSG00000187790	ENST00000556036;ENST00000267430;ENST00000542564	T;T;T	0.08807	3.05;3.05;3.05	6.04	6.04	0.98038	Helicase, C-terminal (3);	0.093862	0.64402	D	0.000001	T	0.35856	0.0946	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.02983	-1.1086	10	0.66056	D	0.02	.	20.2347	0.98355	0.0:0.0:1.0:0.0	.	509;535;535	B2RTQ9;Q8IYD8;Q8IYD8-2	.;FANCM_HUMAN;.	S	535;535;509	ENSP00000450596:G535S;ENSP00000267430:G535S;ENSP00000442493:G509S	ENSP00000267430:G535S	G	+	1	0	FANCM	44703333	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.432000	0.97498	2.881000	0.98747	0.650000	0.86243	GGT	-	HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.368	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	protein_coding	OTTHUMT00000410474.1	G	XM_048128		44703333	1	no_errors	NM_020937.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	45633583	G	A	45633583	3	1	40	1	0	0	0	0	1	0	0	0	5671	1116	39	1	1641	1	FANCM	14	45633583	Missense_Mutation	SNP	G	TCGA-AB-2844-03B-01W-0728-08		45633583	61715957	10	422											
KIAA0892	23383	genome.wustl.edu	37	19	19465222	19465222	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr19:19465222C>T	ENST00000392313.6	+	17	1786	c.1607C>T	c.(1606-1608)tCg>tTg	p.S536L	MAU2_ENST00000262815.8_Missense_Mutation_p.S536L	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	536					maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	protein N-terminus binding (GO:0047485)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						CCGGACATGTCGGTACAGCTG	0.622																																						dbGAP											0			19											123	92	102					19																	19465222		2203	4300	6503	19326222	SO:0001583	missense	0			AB020699	CCDS32969.2	19p13.11	2013-08-28	2013-08-28	2013-08-28	ENSG00000129933	ENSG00000129933			29140	protein-coding gene	gene with protein product	"sister chromatid cohesion 4"	614560	"KIAA0892", "MAU2 chromatid cohesion factor homolog (C. elegans)"	KIAA0892		10048485	Standard	NM_015329		Approved	MGC75361, mau-2, MAU2L, SCC4	uc002nmk.4	Q9Y6X3	OTTHUMG00000150188	ENST00000392313.6:c.1607C>T	19.37:g.19465222C>T	ENSP00000376127:p.Ser536Leu	39	0	0		50	47.92	46	19326222	8	33.33	4	Q66PT1|Q6P3S7|Q6ZTT2|Q9UFX8	Missense_Mutation	SNP	HMMPfam_Cohesin_load,HMMSmart_SM00028,superfamily_TPR-like	p.S536L	ENST00000392313.6	37	c.1607	CCDS32969.2	19	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552787	0.65425	.	.	ENSG00000129933	ENST00000392313;ENST00000262815	.	.	.	5.5	4.47	0.54385	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.30947	0.0781	N	0.24115	0.695	0.80722	D	1	B;B;P	0.47677	0.026;0.072;0.899	B;B;B	0.40410	0.008;0.025;0.328	T	0.05386	-1.0888	9	0.11182	T	0.66	.	12.9595	0.58449	0.0:0.9214:0.0:0.0786	.	112;141;536	Q9Y6X3-3;Q9Y6X3-2;Q9Y6X3	.;.;SCC4_HUMAN	L	536	.	ENSP00000262815:S536L	S	+	2	0	MAU2	19326222	1.000000	0.71417	0.887000	0.34795	0.756000	0.42949	7.526000	0.81920	1.345000	0.45676	0.561000	0.74099	TCG	-	HMMPfam_Cohesin_load,superfamily_TPR-like		0.622	MAU2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0892	protein_coding	OTTHUMT00000316748.6	C	NM_015329		19326222	1	no_errors	NM_015329.3	genbank	human	validated	54_36p	missense	SNP	0.992	T	T	19465222	C	T	19465222	3	4	40	1	0	0	0	0	1	0	0	0	8196	893	31	1	1673	1	KIAA0892	19	19465222	Missense_Mutation	SNP	C	TCGA-AB-2844-03B-01W-0728-08		19465222	39663761	11	423											
VRK3	51231	genome.wustl.edu	37	19	50498516	50498516	+	Silent	SNP	C	C	T			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chr19:50498516C>T	ENST00000599538.1	-	8	1360	c.696G>A	c.(694-696)aaG>aaA	p.K232K	VRK3_ENST00000443401.2_Intron|VRK3_ENST00000594092.1_Silent_p.K232K|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000601912.1_Silent_p.K182K|VRK3_ENST00000594948.1_Silent_p.K232K|VRK3_ENST00000593919.1_Silent_p.K232K|VRK3_ENST00000601341.1_Silent_p.K182K|VRK3_ENST00000316763.3_Silent_p.K232K|VRK3_ENST00000377011.2_Silent_p.K182K			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	232	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCGAGTACAGCTTCTTCCACT	0.552																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	dbGAP											0			19											116	89	98					19																	50498516		2203	4300	6503	55190328	SO:0001819	synonymous_variant	0			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.696G>A	19.37:g.50498516C>T		305	3.14	10		30	49.15	29	55190328	36	40.98	25	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)	p.K232	ENST00000599538.1	37	c.696	CCDS12791.1	19	.	.	.	.	.	.	.	.	.	.	C	5.368	0.253240	0.10185	.	.	ENSG00000105053	ENST00000424804	.	.	.	5.32	4.29	0.51040	.	.	.	.	.	T	0.39708	0.1088	.	.	.	0.20489	N	0.999891	B	0.25390	0.125	B	0.22753	0.041	T	0.37641	-0.9697	7	0.72032	D	0.01	-36.8858	12.0664	0.53590	0.0:0.9172:0.0:0.0828	.	210	E7EMG6	.	N	210	.	ENSP00000402958:S210N	S	-	2	0	VRK3	55190328	0.907000	0.30839	0.996000	0.52242	0.141000	0.21300	1.501000	0.35693	1.636000	0.50526	-0.136000	0.14681	AGC	-	HMMSmart_SM00220		0.552	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	protein_coding	OTTHUMT00000464815.1	C	NM_016440		55190328	-1	no_errors	NM_016440.1	genbank	human	reviewed	54_36p	silent	SNP	0.991	T	T	50498516	C	T	50498516	2	4	40	1	0	0	0	0	0	0	0	1	17218	796	28	2		2	VRK3	19	50498516	Silent	SNP	C	TCGA-AB-2844-03B-01W-0728-08	31033294	50498516	8630467	12	424											
SMC1A	8243	genome.wustl.edu	37	X	53441941	53441941	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2844-03B-01W-0728-08	TCGA-AB-2844-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4d9be233-933e-4375-a92d-ffa0ad9b08c8	6dd909da-225d-49c4-9dd0-fc061c8302d9	g.chrX:53441941C>T	ENST00000322213.4	-	2	414	c.287G>A	c.(286-288)cGt>cAt	p.R96H	SMC1A_ENST00000375340.6_Missense_Mutation_p.R96H	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	96					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TACAATGACACGGGCAAAGGT	0.597													C|||	1	0.000264901	8e-04	0	3775	,	,		14510	0		0	False		,,,				2504	0					dbGAP											0			X											64	47	53					X																	53441941		2203	4300	6503	53458666	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.287G>A	X.37:g.53441941C>T	ENSP00000323421:p.Arg96His	138	7.24	11		1	98.48	65	53458666	2	80	8	O14995|Q16351|Q2M228	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540	p.R96H	ENST00000322213.4	37	c.287	CCDS14352.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.292700|3.292700	0.59976|0.59976	.|.	.|.	ENSG00000072501|ENSG00000072501	ENST00000322213;ENST00000375340;ENST00000340213|ENST00000428014	T;T|.	0.69175|.	-0.38;-0.38|.	4.79|4.79	4.79|4.79	0.61399|0.61399	RecF/RecN/SMC (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81264|0.81264	0.4786|0.4786	H|H	0.94964|0.94964	3.605|3.605	0.30123|0.30123	N|N	0.805528|0.805528	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	T|T	0.82748|0.82748	-0.0304|-0.0304	10|5	0.87932|.	D|.	0|.	.|.	16.0554|16.0554	0.80798|0.80798	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	96;74;96|.	B7Z709;Q6MZR8;Q14683|.	.;.;SMC1A_HUMAN|.	H|M	96|101	ENSP00000323421:R96H;ENSP00000364489:R96H|.	ENSP00000323421:R96H|.	R|V	-|-	2|1	0|0	SMC1A|SMC1A	53458666|53458666	0.993000|0.993000	0.37304|0.37304	0.988000|0.988000	0.46212|0.46212	0.006000|0.006000	0.05464|0.05464	7.647000|7.647000	0.83462|0.83462	2.126000|2.126000	0.65437|0.65437	0.600000|0.600000	0.82982|0.82982	CGT|GTG	-	HMMPfam_SMC_N,superfamily_SSF52540		0.597	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	C	NM_006306		53458666	-1	no_errors	NM_006306.2	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	53441941	C	T	53441941	3	4	40	1	0	0	0	0	1	0	0	0	14781	536	19	1	3510	1	SMC1A	23	53441941	Missense_Mutation	SNP	C	TCGA-AB-2844-03B-01W-0728-08		53441941	101828619	13	425											
EPHA2	1969	genome.wustl.edu	37	1	16475259	16475259	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2845-03D-01W-0755-09	TCGA-AB-2845-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	98d27719-6f38-433a-ba0a-a14cb32958d8	542cdd70-b2e9-4232-889c-318a2c5cf5b7	g.chr1:16475259G>A	ENST00000358432.5	-	3	591	c.437C>T	c.(436-438)gCg>gTg	p.A146V	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	146	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	CTCATCGGGCGCAATGGTGTC	0.592																																						dbGAP											0			1											104	85	92					1																	16475259		2203	4300	6503	16347846	SO:0001583	missense	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3386	protein-coding gene	gene with protein product		176946	"EphA2"	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.437C>T	1.37:g.16475259G>A	ENSP00000351209:p.Ala146Val	128	4.48	6		8	52.94	9	16347846	21	51.16	22	B5A968|Q8N3Z2	Missense_Mutation	SNP	HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SAM,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Gal_bind_like,superfamily_Grow_fac_recept,superfamily_SAM_homology,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP	p.A146V	ENST00000358432.5	37	c.437	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.109916	0.94292	.	.	ENSG00000142627	ENST00000358432	T	0.08008	3.14	5.14	5.14	0.70334	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000033	T	0.39009	0.1062	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.51560	-0.8690	10	0.87932	D	0	.	16.0881	0.81073	0.0:0.0:1.0:0.0	.	146;146	B5A968;P29317	.;EPHA2_HUMAN	V	146	ENSP00000351209:A146V	ENSP00000351209:A146V	A	-	2	0	EPHA2	16347846	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.864000	0.99589	2.393000	0.81446	0.561000	0.74099	GCG	-	HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,superfamily_Gal_bind_like		0.592	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	protein_coding	OTTHUMT00000026322.1	G	NM_004431		16347846	-1	no_errors	NM_004431.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	16475259	G	A	16475259	3	1	41	1	0	0	0	0	1	0	0	0	5167	1087	38	1	2553	1	EPHA2	1	16475259	Missense_Mutation	SNP	G	TCGA-AB-2845-03D-01W-0755-09		16475259	232775362	1	426											
TET2	54790	genome.wustl.edu	37	4	106180893	106180893	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2845-03D-01W-0755-09	TCGA-AB-2845-11D-01W-0755-09	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	98d27719-6f38-433a-ba0a-a14cb32958d8	542cdd70-b2e9-4232-889c-318a2c5cf5b7	g.chr4:106180893delG	ENST00000540549.1	+	7	4781	c.3921delG	c.(3919-3921)aggfs	p.R1307fs	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Frame_Shift_Del_p.R1307fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.R1328fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1307					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.K1308fs*55(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATCCCAAGGAAGTTTAAGC	0.418			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)	4											106	93	97					4																	106180893		692	1591	2283	106400342	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3921delG	4.37:g.106180893delG	ENSP00000442788:p.Arg1307fs	72	0	0		26	0	0	106400342	63	0	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.K110fs	ENST00000540549.1	37	c.327	CCDS47120.1	4																																																																																			-	NULL		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	G	NM_017628		106400342	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_del	DEL	0.996	-	-	106180893	G	-	106180893	7	5	41	1	0	1	0	1	0	0	0	0	15767	1165	41	0	4028	0	TET2	4	106180893	Frame_Shift_Del	DEL	G	TCGA-AB-2845-03D-01W-0755-09		106180893	84973383	2	427											
CAPRIN2	65981	genome.wustl.edu	37	12	30906627	30906627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2845-03D-01W-0755-09	TCGA-AB-2845-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	98d27719-6f38-433a-ba0a-a14cb32958d8	542cdd70-b2e9-4232-889c-318a2c5cf5b7	g.chr12:30906627C>T	ENST00000395805.2	-	1	618	c.71G>A	c.(70-72)tGg>tAg	p.W24*	RP11-77I22.2_ENST00000500076.2_lincRNA|CAPRIN2_ENST00000308433.5_5'UTR|CAPRIN2_ENST00000251071.5_Nonsense_Mutation_p.W24*|CAPRIN2_ENST00000298892.5_Nonsense_Mutation_p.W24*|CAPRIN2_ENST00000417045.1_Nonsense_Mutation_p.W24*	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAGTCTAGACCACTCCCTTAA	0.433											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			12											102	103	103					12																	30906627		2203	4300	6503	30797894	SO:0001587	stop_gained	0			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"C1q domain containing 1"	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.71G>A	12.37:g.30906627C>T	ENSP00000379150:p.Trp24*	138	2.11	3	820	8	42.86	6	30797894	35	47.76	32		Nonsense_Mutation	SNP	HMMPfam_C1q,HMMSmart_SM00110,superfamily_TNF-like	p.W24*	ENST00000395805.2	37	c.71	CCDS55816.1	12	.	.	.	.	.	.	.	.	.	.	C	45	11.284497	0.99541	.	.	ENSG00000110888	ENST00000298892;ENST00000395805;ENST00000251071;ENST00000417045	.	.	.	3.95	1.84	0.25277	.	3.081050	0.01214	N	0.007922	.	.	.	.	.	.	0.20873	N	0.999832	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0029	3.9559	0.09390	0.0:0.6025:0.2543:0.1432	.	.	.	.	X	24	.	.	W	-	2	0	CAPRIN2	30797894	0.000000	0.05858	0.161000	0.22692	0.874000	0.50279	0.049000	0.14099	0.843000	0.35070	0.655000	0.94253	TGG	-	NULL		0.433	CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CAPRIN2	protein_coding	OTTHUMT00000403322.2	C	NM_023925		30797894	-1	no_errors	NM_001002259.1	genbank	human	validated	54_36p	nonsense	SNP	0.015	T	T	30906627	C	T	30906627	4	4	41	1	0	0	0	0	0	1	0	0	2636	595	21	2	3384	2	CAPRIN2	12	30906627	Nonsense_Mutation	SNP	C	TCGA-AB-2845-03D-01W-0755-09		30906627	102945268	3	428											
CEBPA	1050	genome.wustl.edu	37	19	33792390	33792391	+	In_Frame_Ins	INS	-	-	CGGGTTCTGCTT			TCGA-AB-2845-03D-01W-0755-09	TCGA-AB-2845-11D-01W-0755-09	-	-	-	CGGGTTCTGCTT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	98d27719-6f38-433a-ba0a-a14cb32958d8	542cdd70-b2e9-4232-889c-318a2c5cf5b7	g.chr19:33792390_33792391insCGGGTTCTGCTT	ENST00000498907.2	-	1	1079_1080	c.930_931insAAGCAGAACCCG	c.(928-933)acgcag>acgAAGCAGAACCCGcag	p.310_311TQ>TKQNPQ	CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	310	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T310_Q311insKQRNVET(4)|p.R306fs*48(3)|p.T310_Q311insS(2)|p.T310_Q311insT(2)|p.T310_Q311insV(2)|p.T310_Q311>insQRNVET(2)|p.T310_Q311insET(2)|p.Q311*(1)|p.H200_K352>Q(1)|p.?(1)|p.T310_Q312>K(1)|p.T310_Q311insL(1)|p.Q311>PQ(1)|p.T310_Q311insGGQT(1)|p.N307_Q312del(1)|p.T310_Q311insA(1)|p.Q311del(1)|p.T310_Q311del(1)|p.E309fs*13(1)|p.T310_Q311insKQ(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ACCTTCTGCTGCGTCTCCACGT	0.649			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	30	Insertion - In frame(18)|Complex - deletion inframe(5)|Deletion - In frame(3)|Substitution - Nonsense(1)|Unknown(1)|Complex - frameshift(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(30)	19																																								38484231	SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.930_931insAAGCAGAACCCG	19.37:g.33792390_33792391insCGGGTTCTGCTT	ENSP00000427514:p.Thr310_Gln311insLysGlnAsnPro								38484230				A7LNP2|P78319|Q05CA4	In_Frame_Ins	INS	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.310in_frame_insKQNP	ENST00000498907.2	37	c.931_930	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.649	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	-	NM_004364		38484231	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	CGGGTTCTGCTT	CGGGTTCTGCTT	33792391	-	CGGGTTCTGCTT	33792390	7	5	41	1	0	1	1	0	0	0	0	0	3199	1328	46	0	149	0	CEBPA	19	33792390	In_Frame_Ins	INS	-	TCGA-AB-2845-03D-01W-0755-09		33792390	25336593	4	429											
CEBPA	1050	genome.wustl.edu	37	19	33793190	33793191	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-AB-2845-03D-01W-0755-09	TCGA-AB-2845-11D-01W-0755-09	GC	GC	GC	-	GC	GC	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	98d27719-6f38-433a-ba0a-a14cb32958d8	542cdd70-b2e9-4232-889c-318a2c5cf5b7	g.chr19:33793190_33793191delGC	ENST00000498907.2	-	1	279_280	c.130_131delGC	c.(130-132)gccfs	p.A44fs	CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	44					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A47fs*62(2)|p.A44fs*116(1)|p.Y7_G130del(1)|p.G36fs*116(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GGCAGGTGGGGCGGGAGGCTgc	0.757			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	5	Deletion - Frameshift(2)|Insertion - Frameshift(2)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(5)	19																																								38485031	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.130_131delGC	19.37:g.33793190_33793191delGC	ENSP00000427514:p.Ala44fs	0	0	0		0	34.15	84	38485030	0	0	0	A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.A44fs	ENST00000498907.2	37	c.131_130	CCDS54243.1	19																																																																																			-	NULL		0.757	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	GC	NM_004364		38485031	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.988:0.957	-	-	33793191	GC	-	33793190	7	5	41	1	0	1	0	1	0	0	0	0	3199	1203	42	0	949	0	CEBPA	19	33793190	Frame_Shift_Del	DEL	GC	TCGA-AB-2845-03D-01W-0755-09	800	33793190	25335793	5	430	3	2									
CEBPA	1050	genome.wustl.edu	37	19	33793191	33793191	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2845-03D-01W-0755-09	TCGA-AB-2845-11D-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	98d27719-6f38-433a-ba0a-a14cb32958d8	542cdd70-b2e9-4232-889c-318a2c5cf5b7	g.chr19:33793191C>G	ENST00000498907.2	-	1	279	c.130G>C	c.(130-132)Gcc>Ccc	p.A44P	CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	44					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Y7_G130del(1)|p.G36fs*116(1)|p.A44fs*116(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GCAGGTGGGGCGGGAGGCTgc	0.756			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	3	Deletion - Frameshift(2)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(3)	19											3	3	3					19																	33793191		894	1866	2760	38485031	SO:0001583	missense	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.130G>C	19.37:g.33793191C>G	ENSP00000427514:p.Ala44Pro	0	0	0		116	43.48	90	38485031	0	0	0	A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.A44P	ENST00000498907.2	37	c.130	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157730	0.57368	.	.	ENSG00000245848	ENST00000498907	T	0.33438	1.41	3.9	3.9	0.45041	.	.	.	.	.	T	0.36991	0.0987	L	0.29908	0.895	0.24955	N	0.991763	D	0.60160	0.987	P	0.57776	0.827	T	0.11641	-1.0579	9	0.54805	T	0.06	.	11.3844	0.49776	0.0:1.0:0.0:0.0	.	44	P49715	CEBPA_HUMAN	P	44	ENSP00000427514:A44P	ENSP00000427514:A44P	A	-	1	0	CEBPA	38485031	0.778000	0.28640	0.969000	0.41365	0.611000	0.37282	1.416000	0.34759	1.697000	0.51169	0.174000	0.16983	GCC	-	NULL		0.756	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	C	NM_004364		38485031	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	missense	SNP	0.957	G	G	33793191	C	G	33793191	3	3	41	1	0	0	0	0	1	0	0	0	3199	768	27	4	950	4	CEBPA	19	33793191	Missense_Mutation	SNP	C	TCGA-AB-2845-03D-01W-0755-09	1	33793191	25335792	6	431	3	2									
CENPF	1063	genome.wustl.edu	37	1	214819808	214819808	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr1:214819808C>G	ENST00000366955.3	+	13	7063	c.6895C>G	c.(6895-6897)Ctg>Gtg	p.L2299V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2395	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGCATCAGCTGAGAAATAG	0.458																																					Colon(80;575 1284 11000 14801 43496)	dbGAP											0			1											62	68	66					1																	214819808		2203	4300	6503	212886431	SO:0001583	missense	0			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"mitosin"	600236	"centromere protein F, 350/400kDa (mitosin)"			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.6895C>G	1.37:g.214819808C>G	ENSP00000355922:p.Leu2299Val	46	0	0		16	57.89	22	212886431	16	36	9	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Rb-bdg_C_Cenp-F,HMMPfam_Cenp-F_N,HMMPfam_Cenp-F_leu_zip,superfamily_Spectrin repeat	p.L2299V	ENST00000366955.3	37	c.6895	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.849988	0.51270	.	.	ENSG00000117724	ENST00000366955	T	0.03607	3.87	4.59	1.57	0.23409	.	0.703587	0.10984	N	0.612370	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.50819	0.939	B	0.40165	0.321	T	0.44636	-0.9315	10	0.32370	T	0.25	.	2.855	0.05570	0.3374:0.3705:0.0:0.2922	.	2395	P49454	CENPF_HUMAN	V	2299	ENSP00000355922:L2299V	ENSP00000355922:L2299V	L	+	1	2	CENPF	212886431	0.001000	0.12720	0.010000	0.14722	0.384000	0.30261	0.299000	0.19138	0.224000	0.20940	0.407000	0.27541	CTG	-	NULL		0.458	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	C	NM_016343		212886431	1	no_errors	NM_016343.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	G	G	214819808	C	G	214819808	3	3	42	1	0	0	0	0	1	0	0	0	3231	796	28	4	6941	4	CENPF	1	214819808	Missense_Mutation	SNP	C	TCGA-AB-2846-03B-01W-0728-08		214819808	34430813	1	432											
CLDN11	5010	genome.wustl.edu	37	3	170140969	170140969	+	Missense_Mutation	SNP	G	G	A	rs559887015		TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr3:170140969G>A	ENST00000064724.3	+	2	447	c.245G>A	c.(244-246)cGc>cAc	p.R82H	CLDN11_ENST00000486975.1_Missense_Mutation_p.R82H|CLDN11_ENST00000451576.1_Missense_Mutation_p.R82H|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	82					axon ensheathment (GO:0008366)|calcium-independent cell-cell adhesion (GO:0016338)|spermatogenesis (GO:0007283)	basal part of cell (GO:0045178)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGGCCTGCCGCGCCCTGATG	0.602													G|||	1	0.000199681	0	0.0014	5008	,	,		18359	0		0	False		,,,				2504	0					dbGAP											0			3											143	140	141					3																	170140969		2203	4300	6503	171623663	SO:0001583	missense	0			AF068863	CCDS3213.1	3q26.2-q26.3	2008-08-01	2008-08-01		ENSG00000013297	ENSG00000013297		"Claudins"	8514	protein-coding gene	gene with protein product		601326	"oligodendrocyte transmembrane protein"	OTM		8661061, 8797478	Standard	NM_005602		Approved	OSP	uc003fgx.3	O75508	OTTHUMG00000158940	ENST00000064724.3:c.245G>A	3.37:g.170140969G>A	ENSP00000064724:p.Arg82His	106	0	0					171623663	15	48.28	14	B2R7C1|D3DNQ5|Q5U0P3	Missense_Mutation	SNP	HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN	p.R82H	ENST00000064724.3	37	c.245	CCDS3213.1	3	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379020	0.82682	.	.	ENSG00000013297	ENST00000064724;ENST00000486975;ENST00000451576	D;D;D	0.89875	-2.58;-2.58;-2.58	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96525	0.8866	H	0.95224	3.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97261	0.9904	10	0.87932	D	0	.	19.7503	0.96265	0.0:0.0:1.0:0.0	.	82;82	B4DFI2;O75508	.;CLD11_HUMAN	H	82	ENSP00000064724:R82H;ENSP00000417434:R82H;ENSP00000410185:R82H	ENSP00000064724:R82H	R	+	2	0	CLDN11	171623663	1.000000	0.71417	0.984000	0.44739	0.293000	0.27360	9.441000	0.97557	2.675000	0.91044	0.557000	0.71058	CGC	-	HMMPfam_PMP22_Claudin		0.602	CLDN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN11	protein_coding	OTTHUMT00000352403.1	G	NM_005602		171623663	1	no_errors	NM_005602.5	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	170140969	G	A	170140969	3	1	42	1	0	0	0	0	1	0	0	0	3473	1087	38	1	251	1	CLDN11	3	170140969	Missense_Mutation	SNP	G	TCGA-AB-2846-03B-01W-0728-08		170140969	27881461	2	433											
ARAP2	116984	genome.wustl.edu	37	4	36152619	36152619	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr4:36152619A>G	ENST00000303965.4	-	16	3289	c.2800T>C	c.(2800-2802)Tat>Cat	p.Y934H		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	934	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATTTTCATAGTAACTCAAG	0.328																																						dbGAP											0			4											139	140	140					4																	36152619		2203	4299	6502	35829014	SO:0001583	missense	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2800T>C	4.37:g.36152619A>G	ENSP00000302895:p.Tyr934His	132	3.65	5		7	53.33	8	35829014	14	30	6	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	HMMPfam_RA,HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_PH,HMMSmart_SM00233,superfamily_GTPase activation domain GAP,superfamily_SAM/Pointed domain,superfamily_PH domain-like	p.Y934H	ENST00000303965.4	37	c.2800	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	A	23.3	4.397534	0.83120	.	.	ENSG00000047365	ENST00000303965	T	0.79141	-1.24	5.69	5.69	0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88890	0.6560	M	0.82517	2.595	0.47245	D	0.999362	D	0.89917	1.0	D	0.91635	0.999	D	0.90495	0.4470	10	0.87932	D	0	.	15.9451	0.79787	1.0:0.0:0.0:0.0	.	934	Q8WZ64	ARAP2_HUMAN	H	934	ENSP00000302895:Y934H	ENSP00000302895:Y934H	Y	-	1	0	ARAP2	35829014	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.022000	0.88759	2.177000	0.69029	0.533000	0.62120	TAT	-	HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like		0.328	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	A	NM_015230		35829014	-1	no_errors	NM_015230.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	36152619	A	G	36152619	3	3	42	1	0	0	0	0	1	0	0	0	839	420	15	3	2386	3	ARAP2	4	36152619	Missense_Mutation	SNP	A	TCGA-AB-2846-03B-01W-0728-08		36152619	155001657	3	434											
KIT	3815	genome.wustl.edu	37	4	55589766	55589766	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr4:55589766delG	ENST00000288135.5	+	8	1345	c.1248delG	c.(1246-1248)ctgfs	p.L416fs		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	416	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGAAATCCTGACTTACGACA	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	0			4											97	82	87					4																	55589766		2203	4300	6503	55284523	SO:0001589	frameshift_variant	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1248delG	4.37:g.55589766delG	ENSP00000288135:p.Leu416fs	41	2.38	1		71	0	0	55284523	17	24	6	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Frame_Shift_Del	DEL	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.T417fs	ENST00000288135.5	37	c.1248	CCDS3496.1	4																																																																																			-	NULL		0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	G			55284523	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.990	-	-	55589766	G	-	55589766	7	5	42	1	0	1	0	1	0	0	0	0	8329	1277	45	0	1278	0	KIT	4	55589766	Frame_Shift_Del	DEL	G	TCGA-AB-2846-03B-01W-0728-08	19437147	55589766	135564510	4	435	4	2									
KIT	3815	genome.wustl.edu	37	4	55589770	55589771	+	Frame_Shift_Ins	INS	-	-	AGGTGGG			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	-	-	-	AGGTGGG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr4:55589770_55589771insAGGTGGG	ENST00000288135.5	+	8	1349_1350	c.1252_1253insAGGTGGG	c.(1252-1254)tacfs	p.Y418fs		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	418	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y418_D419>G(4)|p.T417_D419>I(2)|p.T417_D419>RG(2)|p.T417_D419>Y(2)|p.T417_R420>R(1)|p.T417_V422>SRIL(1)|p.T417_D419>F(1)|p.T417_D419>G(1)|p.T417_D419>KT(1)|p.T417_D419>L(1)|p.T417_D419>N(1)|p.T417_D419>KS(1)|p.Y418_R420>V(1)|p.T417_D419>RA(1)|p.T417_D419>S(1)|p.T417_D419>V(1)|p.T417_R420>SVIVG(1)|p.Y418_D419del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATCCTGACTTACGACAGGCTC	0.47		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	24	Complex - deletion inframe(22)|Deletion - In frame(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(24)	4																																								55284528	SO:0001589	frameshift_variant	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	Exception_encountered	4.37:g.55589770_55589771insAGGTGGG	ENSP00000288135:p.Tyr418fs								55284527				B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Frame_Shift_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.Y418fs	ENST00000288135.5	37	c.1252_1253	CCDS3496.1	4																																																																																			-	NULL		0.47	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	-			55284528	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.005:0.002	AGGTGGG	AGGTGGG	55589771	-	AGGTGGG	55589770	7	5	42	1	0	1	1	0	0	0	0	0	8329	1754	61	0	1282	0	KIT	4	55589770	Frame_Shift_Ins	INS	-	TCGA-AB-2846-03B-01W-0728-08	4	55589770	135564506	5	436	4	2									
ZFP42	132625	genome.wustl.edu	37	4	188924151	188924151	+	Missense_Mutation	SNP	G	G	A	rs201496236		TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr4:188924151G>A	ENST00000326866.4	+	4	598	c.190G>A	c.(190-192)Gga>Aga	p.G64R	ZFP42_ENST00000509524.1_Missense_Mutation_p.G64R	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	64					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGGCTCTCGGAGGGGATGA	0.507													G|||	0	0	0	0	5008	,	,		18506	0		0	False		,,,				2504	0					dbGAP											0			4											100	92	95					4																	188924151		2203	4300	6503	189161145	SO:0001583	missense	0			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"Zinc fingers, C2H2-type"	30949	protein-coding gene	gene with protein product		614572	"zinc finger protein 42 homolog (mouse)", "zinc finger protein 42"			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.190G>A	4.37:g.188924151G>A	ENSP00000317686:p.Gly64Arg	71	1.39	1					189161145	19	40.62	13	D3DP65|Q8WXE2	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.G64R	ENST00000326866.4	37	c.190	CCDS3849.1	4	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.85	2.658482	0.47467	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.65364	-0.15;-0.15	4.52	2.81	0.32909	.	0.238817	0.33382	U	0.004978	T	0.43523	0.1251	L	0.46157	1.445	0.09310	N	1	P	0.50819	0.939	B	0.37144	0.242	T	0.33879	-0.9851	10	0.13108	T	0.6	.	6.5888	0.22636	0.2869:0.0:0.7131:0.0	.	64	Q96MM3	ZFP42_HUMAN	R	64	ENSP00000317686:G64R;ENSP00000424662:G64R	ENSP00000317686:G64R	G	+	1	0	ZFP42	189161145	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.202000	0.17295	0.851000	0.35264	0.655000	0.94253	GGA	-	NULL		0.507	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP42	protein_coding	OTTHUMT00000359794.1	G	NM_174900		189161145	1	no_errors	NM_174900.3	genbank	human	validated	54_36p	missense	SNP	0.001	A	A	188924151	G	A	188924151	3	1	42	1	0	0	0	0	1	0	0	0	17647	1117	39	1	192	1	ZFP42	4	188924151	Missense_Mutation	SNP	G	TCGA-AB-2846-03B-01W-0728-08	133334381	188924151	2230125	6	437											
PDE6A	5145	genome.wustl.edu	37	5	149324044	149324044	+	Silent	SNP	G	G	A			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr5:149324044G>A	ENST00000255266.5	-	1	312	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	65					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Caffeine(DB00201)	AAGTCCCGCAGGAGATCAAAG	0.532																																						dbGAP											0			5											72	71	72					5																	149324044		2203	4300	6503	149304237	SO:0001819	synonymous_variant	0				CCDS4299.1	5q31.2-q34	2013-02-14			ENSG00000132915	ENSG00000132915	3.1.4.17	"Phosphodiesterases"	8785	protein-coding gene	gene with protein product		180071		PDEA		2155175	Standard	NM_000440		Approved	RP43	uc003lrg.4	P16499	OTTHUMG00000130047	ENST00000255266.5:c.193C>T	5.37:g.149324044G>A		204	1.45	3					149304237	38	39.68	25	Q0P638	Silent	SNP	HMMPfam_PDEase_I,PatternScan_PDEASE_I,HMMPfam_GAF,HMMSmart_GAF,HMMSmart_HDc,superfamily_SSF109604,superfamily_SSF55781	p.L65	ENST00000255266.5	37	c.193	CCDS4299.1	5																																																																																			-	superfamily_SSF55781		0.532	PDE6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6A	protein_coding	OTTHUMT00000252326.2	G			149304237	-1	no_errors	NM_000440.2	genbank	human	reviewed	54_36p	silent	SNP	0.999	A	A	149324044	G	A	149324044	2	1	42	1	0	0	0	0	0	0	0	1	11645	991	35	2		2	PDE6A	5	149324044	Silent	SNP	G	TCGA-AB-2846-03B-01W-0728-08		149324044	31591216	7	438											
DST	667	genome.wustl.edu	37	6	56401599	56401599	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr6:56401599C>T	ENST00000361203.3	-	58	16122	c.16115G>A	c.(16114-16116)cGg>cAg	p.R5372Q	DST_ENST00000370754.5_Missense_Mutation_p.R5552Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R3286Q|DST_ENST00000244364.6_Missense_Mutation_p.R2960Q|DST_ENST00000446842.2_Missense_Mutation_p.R5048Q|DST_ENST00000370769.4_Missense_Mutation_p.R5374Q|DST_ENST00000370788.2_Missense_Mutation_p.R3286Q			Q03001	DYST_HUMAN	dystonin	5372					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGTCTTCCACCGTGCATTGAC	0.428																																						dbGAP											0			6											154	153	153					6																	56401599		2035	4203	6238	56509558	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16115G>A	6.37:g.56401599C>T	ENSP00000354508:p.Arg5372Gln	70	5.41	4		2	0	0	56509558	13	43.48	10	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMSmart_SM00054,HMMPfam_GAS2,HMMSmart_SM00243,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_Spectrin repeat,superfamily_EF-hand	p.R3286Q	ENST00000361203.3	37	c.9857		6	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499641	0.64298	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.7	5.7	0.88788	.	0.000000	0.47455	D	0.000237	T	0.56366	0.1980	M	0.74647	2.275	0.27013	N	0.964632	D;D;D;P;P	0.89917	0.987;1.0;0.999;0.91;0.719	P;D;D;B;B	0.74348	0.71;0.983;0.936;0.267;0.206	T	0.54016	-0.8356	9	0.18276	T	0.48	.	14.0397	0.64667	0.0:0.928:0.0:0.072	.	3286;5374;5552;5372;2960	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	2960;5552;5374;3286;5048;3286;5372	ENSP00000244364:R2960Q;ENSP00000359790:R5552Q;ENSP00000359805:R5374Q;ENSP00000400883:R3286Q;ENSP00000393645:R5048Q;ENSP00000359824:R3286Q;ENSP00000354508:R5372Q	ENSP00000244364:R2960Q	R	-	2	0	DST	56509558	0.998000	0.40836	0.637000	0.29366	0.945000	0.59286	4.693000	0.61753	2.697000	0.92050	0.585000	0.79938	CGG	-	HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat		0.428	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56509558	-1	no_errors	NM_183380.1	genbank	human	reviewed	54_36p	missense	SNP	0.169	T	T	56401599	C	T	56401599	3	4	42	1	0	0	0	0	1	0	0	0	4783	652	23	1	6804	1	DST	6	56401599	Missense_Mutation	SNP	C	TCGA-AB-2846-03B-01W-0728-08		56401599	114713468	8	439											
WT1	7490	genome.wustl.edu	37	11	32417909	32417910	+	Frame_Shift_Ins	INS	-	-	A	rs377446096|rs142937387		TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr11:32417909_32417910insA	ENST00000379079.2	-	7	779_780	c.506_507insT	c.(505-507)tcgfs	p.S169fs	WT1_ENST00000448076.3_Frame_Shift_Ins_p.S381fs|WT1_ENST00000530998.1_Frame_Shift_Ins_p.S152fs|WT1_ENST00000332351.3_Frame_Shift_Ins_p.S381fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	313					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A314fs*69(11)|p.S313*(9)|p.S313fs*70(5)|p.A314fs*3(3)|p.A314fs*7(2)|p.V311fs*3(2)|p.A314fs*6(2)|p.S313fs*71(2)|p.L310fs*63(1)|p.P308fs*67(1)|p.S313del(1)|p.A314fs*68(1)|p.S313fs*4(1)|p.T309fs*4(1)|p.S313fs*6(1)|p.?fs(1)|p.A314fs*4(1)|p.A314fs*15(1)|p.S313fs*12(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TCTCAGATGCCGACCGTACAAG	0.52			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	47	Insertion - Frameshift(31)|Substitution - Nonsense(9)|Deletion - Frameshift(3)|Complex - frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(44)|kidney(3)	11	GRCh37	CM971595	WT1	M	rs142937387																																			32374486	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.506_507insT	11.37:g.32417909_32417910insA	ENSP00000368370:p.Ser169fs	53	0	0		13	0	0	32374485	6	14.29	1	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A382fs	ENST00000379079.2	37	c.1143_1142	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.52	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374486	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.771:0.996	A	A	32417910	-	A	32417909	7	5	42	1	0	1	1	0	0	0	0	0	17405	639	23	0	426	0	WT1	11	32417909	Frame_Shift_Ins	INS	-	TCGA-AB-2846-03B-01W-0728-08		32417909	102588607	9	440											
WSCD2	9671	genome.wustl.edu	37	12	108600074	108600074	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr12:108600074A>G	ENST00000332082.4	+	4	1209	c.391A>G	c.(391-393)Atc>Gtc	p.I131V	WSCD2_ENST00000547525.1_Missense_Mutation_p.I131V|WSCD2_ENST00000261400.3_Missense_Mutation_p.I131V|WSCD2_ENST00000549903.1_Missense_Mutation_p.I131V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	131	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGCCAAGTACATCGGCTGCTA	0.517																																						dbGAP											0			12											80	79	80					12																	108600074		1940	4144	6084	107124204	SO:0001583	missense	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.391A>G	12.37:g.108600074A>G	ENSP00000331933:p.Ile131Val	176	6.38	12					107124204	34	41.38	24	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	HMMPfam_WSC,HMMSmart_SM00321,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.I131V	ENST00000332082.4	37	c.391	CCDS41828.1	12	.	.	.	.	.	.	.	.	.	.	A	7.226	0.598434	0.13939	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.29	2.58	0.30949	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.162631	0.52532	N	0.000063	T	0.22282	0.0537	N	0.04994	-0.135	0.53005	D	0.999966	B	0.06786	0.001	B	0.08055	0.003	T	0.04737	-1.0930	10	0.13853	T	0.58	-27.3841	9.612	0.39668	0.8282:0.0:0.1718:0.0	.	131	Q2TBF2	WSCD2_HUMAN	V	131	ENSP00000448047:I131V;ENSP00000261400:I131V;ENSP00000331933:I131V;ENSP00000447272:I131V	ENSP00000261400:I131V	I	+	1	0	WSCD2	107124204	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.737000	0.47393	0.856000	0.35383	0.528000	0.53228	ATC	-	HMMPfam_WSC,HMMSmart_SM00321		0.517	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	protein_coding	OTTHUMT00000405554.1	A	NM_014653		107124204	1	no_errors	NM_014653.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	108600074	A	G	108600074	3	3	42	1	0	0	0	0	1	0	0	0	17404	217	8	3	397	3	WSCD2	12	108600074	Missense_Mutation	SNP	A	TCGA-AB-2846-03B-01W-0728-08		108600074	25251821	10	441											
OR4Q3	441669	genome.wustl.edu	37	14	20215692	20215692	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr14:20215692A>G	ENST00000331723.1	+	1	106	c.106A>G	c.(106-108)Att>Gtt	p.I36V		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTTTTTTACATTGCTATTGT	0.378																																						dbGAP											0			14											175	179	177					14																	20215692		2203	4300	6503	19285532	SO:0001583	missense	0			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"GPCR / Class A : Olfactory receptors"	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.106A>G	14.37:g.20215692A>G	ENSP00000330049:p.Ile36Val	464	2.52	12					19285532	61	42.59	46	Q6IEX4	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.I36V	ENST00000331723.1	37	c.106	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	0.019	-1.457137	0.01071	.	.	ENSG00000182652	ENST00000331723	T	0.03035	4.07	4.32	-4.07	0.03975	.	1.116690	0.07031	U	0.828475	T	0.01254	0.0041	N	0.02202	-0.64	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47086	-0.9144	10	0.02654	T	1	.	6.3055	0.21137	0.2397:0.4155:0.3448:0.0	.	36	Q8NH05	OR4Q3_HUMAN	V	36	ENSP00000330049:I36V	ENSP00000330049:I36V	I	+	1	0	OR4Q3	19285532	0.000000	0.05858	0.002000	0.10522	0.876000	0.50452	-4.802000	0.00184	-0.517000	0.06461	0.416000	0.27883	ATT	-	superfamily_SSF81321		0.378	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	protein_coding	OTTHUMT00000409818.2	A			19285532	1	no_errors	NM_172194.1	genbank	human	provisional	54_36p	missense	SNP	0.004	G	G	20215692	A	G	20215692	3	3	42	1	0	0	0	0	1	0	0	0	11081	217	8	3	108	3	OR4Q3	14	20215692	Missense_Mutation	SNP	A	TCGA-AB-2846-03B-01W-0728-08		20215692	87133848	11	442											
GEMIN4	50628	genome.wustl.edu	37	17	649463	649463	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr17:649463A>T	ENST00000319004.5	-	2	1938	c.1820T>A	c.(1819-1821)cTc>cAc	p.L607H	GEMIN4_ENST00000576778.1_Missense_Mutation_p.L596H	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	607					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GGTTTCTTTGAGGCATGACAC	0.498																																						dbGAP											0			17											129	130	130					17																	649463		1923	4148	6071	596213	SO:0001583	missense	0			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"HCC-associated protein 1", "component of gems 4"	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1820T>A	17.37:g.649463A>T	ENSP00000321706:p.Leu607His	55	1.79	1		18	53.85	21	596213	3	62.5	5	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	NULL	p.L607H	ENST00000319004.5	37	c.1820	CCDS45559.1	17	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193098	0.58017	.	.	ENSG00000179409	ENST00000319004	T	0.18657	2.2	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.45518	0.1346	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44360	-0.9333	10	0.87932	D	0	-12.3314	14.7489	0.69511	1.0:0.0:0.0:0.0	.	607	P57678	GEMI4_HUMAN	H	607	ENSP00000321706:L607H	ENSP00000321706:L607H	L	-	2	0	GEMIN4	596213	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	8.741000	0.91583	2.081000	0.62600	0.482000	0.46254	CTC	-	NULL		0.498	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN4	protein_coding	OTTHUMT00000437181.1	A	NM_015721		596213	-1	no_errors	NM_015721.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	T	T	649463	A	T	649463	3	4	42	1	0	0	0	0	1	0	0	0	6330	304	11	5	1360	5	GEMIN4	17	649463	Missense_Mutation	SNP	A	TCGA-AB-2846-03B-01W-0728-08		649463	80545747	12	443											
SLC17A7	57030	genome.wustl.edu	37	19	49933846	49933846	+	Missense_Mutation	SNP	G	G	A	rs148110556	byFrequency	TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr19:49933846G>A	ENST00000221485.3	-	12	1784	c.1613C>T	c.(1612-1614)cCg>cTg	p.P538L	SLC17A7_ENST00000543531.1_Missense_Mutation_p.P526L|SLC17A7_ENST00000600601.1_Missense_Mutation_p.P471L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	538	Pro-rich.				glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		ATAGGAGGGCGGGGGTGCAGG	0.652													G|||	4	0.000798722	0.003	0	5008	,	,		12349	0		0	False		,,,				2504	0					dbGAP											0			19						G	LEU/PRO	10,4376		0,10,2183	19	20	20		1613	4.7	0.9	19	dbSNP_134	20	0,8576		0,0,4288	yes	missense	SLC17A7	NM_020309.3	98	0,10,6471	AA,AG,GG		0.0,0.228,0.0771	benign	538/561	49933846	10,12952	2193	4288	6481	54625658	SO:0001583	missense	0			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"Solute carriers"	16704	protein-coding gene	gene with protein product	"vesicular glutamate transporter 1"	605208	"solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1613C>T	19.37:g.49933846G>A	ENSP00000221485:p.Pro538Leu	18	0	0					54625658	7	36.36	4	B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.P538L	ENST00000221485.3	37	c.1613	CCDS12764.1	19	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.524	1.108947	0.20714	0.00228	0.0	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.63580	-0.04;-0.05	4.68	4.68	0.58851	.	0.428985	0.21729	N	0.069992	T	0.36936	0.0985	N	0.22421	0.69	0.44241	D	0.997087	B;B	0.27117	0.106;0.168	B;B	0.15484	0.008;0.013	T	0.29458	-1.0011	10	0.26408	T	0.33	.	13.2923	0.60278	0.0:0.0:1.0:0.0	.	538;380	Q9P2U7;A8K0Q7	VGLU1_HUMAN;.	L	538;526	ENSP00000221485:P538L;ENSP00000441767:P526L	ENSP00000221485:P538L	P	-	2	0	SLC17A7	54625658	0.925000	0.31364	0.935000	0.37517	0.458000	0.32498	2.662000	0.46766	2.614000	0.88457	0.585000	0.79938	CCG	-	NULL		0.652	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	protein_coding	OTTHUMT00000465367.2	G			54625658	-1	no_errors	NM_020309.3	genbank	human	reviewed	54_36p	missense	SNP	0.264	A	A	49933846	G	A	49933846	3	1	42	1	0	0	0	0	1	0	0	0	14422	1116	39	1	73	1	SLC17A7	19	49933846	Missense_Mutation	SNP	G	TCGA-AB-2846-03B-01W-0728-08		49933846	9195137	13	444											
TM9SF4	9777	genome.wustl.edu	37	20	30747885	30747885	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chr20:30747885G>A	ENST00000398022.2	+	16	1895	c.1660G>A	c.(1660-1662)Gtc>Atc	p.V554I	TM9SF4_ENST00000217315.5_Missense_Mutation_p.V537I	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	554						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AATCAGCATCGTCATGGTGTA	0.522																																						dbGAP											0			20											261	190	214					20																	30747885		2203	4300	6503	30211546	SO:0001583	missense	0			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1660G>A	20.37:g.30747885G>A	ENSP00000381104:p.Val554Ile	245	5.04	13		56	40.43	38	30211546	14	61.11	22	B0QYT7|Q9NUA3	Missense_Mutation	SNP	HMMPfam_EMP70	p.V537I	ENST00000398022.2	37	c.1609	CCDS13196.2	20	.	.	.	.	.	.	.	.	.	.	G	33	5.290265	0.95546	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.44881	0.91;0.91	4.8	4.8	0.61643	.	0.134155	0.50627	D	0.000120	T	0.62672	0.2447	M	0.66506	2.035	0.80722	D	1	P;D	0.69078	0.951;0.997	B;D	0.66497	0.446;0.944	T	0.67039	-0.5771	10	0.87932	D	0	-26.3911	18.045	0.89329	0.0:0.0:1.0:0.0	.	461;554	B4DH88;Q92544	.;TM9S4_HUMAN	I	554;537	ENSP00000381104:V554I;ENSP00000217315:V537I	ENSP00000217315:V537I	V	+	1	0	TM9SF4	30211546	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.431000	0.97494	2.500000	0.84329	0.650000	0.86243	GTC	-	HMMPfam_EMP70		0.522	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	protein_coding	OTTHUMT00000323568.1	G	NM_014742		30211546	1	no_errors	NM_014742.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	30747885	G	A	30747885	3	1	42	1	0	0	0	0	1	0	0	0	15977	1145	40	1	1722	1	TM9SF4	20	30747885	Missense_Mutation	SNP	G	TCGA-AB-2846-03B-01W-0728-08		30747885	32277635	14	445											
TMEM47	83604	genome.wustl.edu	37	X	34657408	34657408	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2846-03B-01W-0728-08	TCGA-AB-2846-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	67e8fb6c-72b9-4cb8-ad4e-cb9da7c77c88	a377205f-d22d-4637-b728-0d9decbdf206	g.chrX:34657408C>T	ENST00000275954.3	-	2	581	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	108						cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAAACGCCTTCGAGATCCCAC	0.448																																						dbGAP											0			X											71	59	64					X																	34657408		2202	4300	6502	34567329	SO:0001583	missense	0			AK090917	CCDS14235.1	Xp11.4	2008-02-05	2005-03-21	2005-03-21	ENSG00000147027	ENSG00000147027			18515	protein-coding gene	gene with protein product		300698	"transmembrane 4 superfamily member 10"	TM4SF10		11472633	Standard	NM_031442		Approved	BCMP1, DKFZP761J17121, DKFZp564E153	uc004ddh.3	Q9BQJ4	OTTHUMG00000021343	ENST00000275954.3:c.323G>A	X.37:g.34657408C>T	ENSP00000275954:p.Arg108Gln	104	3.7	4		1	0	0	34567329	18	35.71	10	Q5JR44	Missense_Mutation	SNP	NULL	p.R108Q	ENST00000275954.3	37	c.323	CCDS14235.1	X	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951728	0.73787	.	.	ENSG00000147027	ENST00000275954	T	0.68903	-0.36	5.71	4.84	0.62591	.	0.111342	0.64402	D	0.000012	T	0.46308	0.1386	N	0.22421	0.69	0.58432	D	0.999999	P	0.35348	0.496	B	0.22753	0.041	T	0.47275	-0.9130	10	0.28530	T	0.3	-0.3699	12.17	0.54152	0.0:0.9167:0.0:0.0833	.	108	Q9BQJ4	TMM47_HUMAN	Q	108	ENSP00000275954:R108Q	ENSP00000275954:R108Q	R	-	2	0	TMEM47	34567329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.624000	0.61254	2.391000	0.81399	0.538000	0.68166	CGA	-	NULL		0.448	TMEM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM47	protein_coding	OTTHUMT00000056209.1	C	NM_031442		34567329	-1	no_errors	NM_031442.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	34657408	C	T	34657408	3	4	42	1	0	0	0	0	1	0	0	0	16168	884	31	1	230	1	TMEM47	23	34657408	Missense_Mutation	SNP	C	TCGA-AB-2846-03B-01W-0728-08		34657408	120613152	15	446											
MYBPH	4608	genome.wustl.edu	37	1	203139507	203139507	+	Silent	SNP	C	C	T			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr1:203139507C>T	ENST00000255416.4	-	7	1062	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	335	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGAAGGAGTACGAGTTGCCGA	0.597																																					NSCLC(32;174 1025 14462 23899 42933)	dbGAP											0			1											171	163	166					1																	203139507		2203	4300	6503	201406130	SO:0001819	synonymous_variant	0			BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7552	protein-coding gene	gene with protein product		160795	"myosin-binding protein H"			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1005G>A	1.37:g.203139507C>T		168	0.58	1					201406130	78	37.3	47	Q16886|Q86YC5	Silent	SNP	HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726	p.S335	ENST00000255416.4	37	c.1005	CCDS30975.1	1																																																																																			-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.597	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPH	protein_coding	OTTHUMT00000100264.1	C	NM_004997		201406130	-1	no_errors	NM_004997.2	genbank	human	validated	54_36p	silent	SNP	0.810	T	T	203139507	C	T	203139507	2	4	43	1	0	0	0	0	0	0	0	1	10014	523	19	1		1	MYBPH	1	203139507	Silent	SNP	C	TCGA-AB-2847-03B-01W-0728-08		203139507	46111114	1	447											
ARF1	375	genome.wustl.edu	37	1	228285059	228285059	+	Silent	SNP	C	C	T	rs552986915		TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr1:228285059C>T	ENST00000541182.1	+	3	427	c.165C>T	c.(163-165)acC>acT	p.T55T	ARF1_ENST00000540651.1_Silent_p.T55T|MIR3620_ENST00000584469.1_RNA|ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000272102.5_Silent_p.T55T	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	55					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				ACGTGGAAACCGTGGAGTACA	0.612													C|||	1	0.000199681	0	0	5008	,	,		18595	0.001		0	False		,,,				2504	0					dbGAP											0			1											87	86	86					1																	228285059		2203	4300	6503	226351682	SO:0001819	synonymous_variant	0			M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"ADP-ribosylation factors", "Endogenous ligands"	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.165C>T	1.37:g.228285059C>T		38	0	0		208	47.74	190	226351682	57	33.71	30	P10947|P32889	Silent	SNP	HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,PatternScan_ARF,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T55	ENST00000541182.1	37	c.165	CCDS1565.1	1																																																																																			-	HMMSmart_SM00175,HMMSmart_SM00178,HMMSmart_SM00177,HMMPfam_Arf,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.612	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	protein_coding	OTTHUMT00000091650.1	C	NM_001024227		226351682	1	no_errors	NM_001024226.1	genbank	human	reviewed	54_36p	silent	SNP	0.940	T	T	228285059	C	T	228285059	2	4	43	1	0	0	0	0	0	0	0	1	844	639	23	1		1	ARF1	1	228285059	Silent	SNP	C	TCGA-AB-2847-03B-01W-0728-08	25145552	228285059	20965562	2	448											
LRP1B	53353	genome.wustl.edu	37	2	141474288	141474288	+	Silent	SNP	C	C	T			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr2:141474288C>T	ENST00000389484.3	-	36	6827	c.5856G>A	c.(5854-5856)ttG>ttA	p.L1952L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1952					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACTCTTCCCAAGCCATTGG	0.393										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0			2											149	134	139					2																	141474288		2203	4300	6503	141190758	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5856G>A	2.37:g.141474288C>T		219	1.35	3					141190758	300	36.08	175	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	HMMPfam_Ldl_recept_b,HMMSmart_LY,PatternScan_ASX_HYDROXYL,HMMPfam_NHL,HMMSmart_EGF_CA,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825	p.L1952	ENST00000389484.3	37	c.5856	CCDS2182.1	2																																																																																			-	HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825		0.393	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141190758	-1	no_errors	NM_018557.2	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	141474288	C	T	141474288	2	4	43	1	0	0	0	0	0	0	0	1	8955	593	21	2		2	LRP1B	2	141474288	Silent	SNP	C	TCGA-AB-2847-03B-01W-0728-08		141474288	101725085	3	449											
CSRNP1	64651	genome.wustl.edu	37	3	39186566	39186566	+	Silent	SNP	C	C	T	rs201759916		TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr3:39186566C>T	ENST00000273153.5	-	3	564	c.387G>A	c.(385-387)gcG>gcA	p.A129A	CSRNP1_ENST00000514182.1_Silent_p.A129A	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	129					apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CTTGCTCCTGCGCAAACTCAG	0.612													C|||	1	0.000199681	0	0	5008	,	,		16804	0.001		0	False		,,,				2504	0					dbGAP											0			3						C		1,4405	2.1+/-5.4	0,1,2202	69	59	63		387	-10.3	0	3		63	0,8600		0,0,4300	no	coding-synonymous	CSRNP1	NM_033027.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		129/590	39186566	1,13005	2203	4300	6503	39161570	SO:0001819	synonymous_variant	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"AXIN1 up-regulated 1"	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.387G>A	3.37:g.39186566C>T		141	1.37	2		30	30.23	13	39161570	60	35.11	33	Q69YY5	Silent	SNP	NULL	p.A129	ENST00000273153.5	37	c.387	CCDS2682.1	3																																																																																			-	NULL		0.612	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AXUD1	protein_coding	OTTHUMT00000254061.1	C	NM_033027		39161570	-1	no_errors	NM_033027.3	genbank	human	reviewed	54_36p	silent	SNP	0.036	T	T	39186566	C	T	39186566	2	4	43	1	0	0	0	0	0	0	0	1	3963	755	27	1		1	CSRNP1	3	39186566	Silent	SNP	C	TCGA-AB-2847-03B-01W-0728-08		39186566	158835864	4	450											
ADAMTS16	170690	genome.wustl.edu	37	5	5239824	5239824	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr5:5239824G>A	ENST00000274181.7	+	16	2447	c.2309G>A	c.(2308-2310)gGa>gAa	p.G770E		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	770	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G770V(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTCCTTCTGGAGCCCGGAGT	0.473																																						dbGAP											2	Substitution - Missense(2)	lung(2)	5											159	148	151					5																	5239824		1870	4112	5982	5292824	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"ADAM metallopeptidases with thrombospondin type 1 motif"	17108	protein-coding gene	gene with protein product		607510	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2309G>A	5.37:g.5239824G>A	ENSP00000274181:p.Gly770Glu	152	1.29	2					5292824	221	32.73	108	C6G490|Q8IVE2	Missense_Mutation	SNP	HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_CARBAMOYLTRANSFERASE,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases ("zincins") catalytic domain	p.G770E	ENST00000274181.7	37	c.2309	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979496	0.92982	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.73681	-0.77	5.56	5.56	0.83823	ADAM-TS Spacer 1 (1);	0.000000	0.85682	D	0.000000	D	0.90700	0.7082	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93120	0.6524	10	0.87932	D	0	.	18.2879	0.90120	0.0:0.0:1.0:0.0	.	770;770	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	E	770	ENSP00000274181:G770E	ENSP00000274181:G770E	G	+	2	0	ADAMTS16	5292824	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	8.985000	0.93487	2.615000	0.88500	0.655000	0.94253	GGA	-	HMMPfam_ADAM_spacer1		0.473	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5292824	1	no_errors	NM_139056.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	5239824	G	A	5239824	3	1	43	1	0	0	0	0	1	0	0	0	261	1174	41	2	2371	2	ADAMTS16	5	5239824	Missense_Mutation	SNP	G	TCGA-AB-2847-03B-01W-0728-08		5239824	175675436	5	451											
SCAND3	114821	genome.wustl.edu	37	6	28543694	28543694	+	Missense_Mutation	SNP	G	G	A	rs373418471		TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr6:28543694G>A	ENST00000452236.2	-	3	1405	c.788C>T	c.(787-789)gCg>gTg	p.A263V	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTCCTTTTTCGCCTTAGCTTT	0.358																																						dbGAP											0			6											185	180	182					6																	28543694		2203	4300	6503	28651673	SO:0001583	missense	0																														ENST00000452236.2:c.788C>T	6.37:g.28543694G>A	ENSP00000395259:p.Ala263Val	143	0	0					28651673	116	34.76	65		Missense_Mutation	SNP	HMMPfam_rve,HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_hATC,superfamily_RNaseH_fold	p.A263V	ENST00000452236.2	37	c.788	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878774	0.33162	.	.	ENSG00000232040	ENST00000452236	T	0.01438	4.89	2.46	1.56	0.23342	.	.	.	.	.	T	0.00356	0.0011	N	0.14661	0.345	0.23010	N	0.99843	P	0.34837	0.472	B	0.27887	0.084	T	0.45571	-0.9252	9	0.42905	T	0.14	.	6.4235	0.21756	0.0:0.0:0.709:0.291	.	263	Q6R2W3	SCND3_HUMAN	V	263	ENSP00000395259:A263V	ENSP00000395259:A263V	A	-	2	0	SCAND3	28651673	0.853000	0.29707	0.998000	0.56505	0.989000	0.77384	0.813000	0.27225	0.582000	0.29556	0.585000	0.79938	GCG	-	NULL		0.358	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	G			28651673	-1	no_errors	NM_052923.1	genbank	human	provisional	54_36p	missense	SNP	0.948	A	A	28543694	G	A	28543694	3	1	43	1	0	0	0	0	1	0	0	0	13876	1087	38	1	3197	1	SCAND3	6	28543694	Missense_Mutation	SNP	G	TCGA-AB-2847-03B-01W-0728-08		28543694	142571373	6	452											
OR2AG1	144125	genome.wustl.edu	37	11	6806660	6806660	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr11:6806660C>A	ENST00000307401.4	+	1	413	c.392C>A	c.(391-393)aCa>aAa	p.T131K		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	131						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CATCCTCTGACATACATGACC	0.532																																						dbGAP											0			11											108	97	101					11																	6806660		2201	4296	6497	6763236	SO:0001583	missense	0			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"GPCR / Class A : Olfactory receptors"	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.392C>A	11.37:g.6806660C>A	ENSP00000307447:p.Thr131Lys	188	0	0					6763236	160	33.2	82	B9EKV7|Q6IFG7|Q96R26	Missense_Mutation	SNP	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like	p.T131K	ENST00000307401.4	37	c.392	CCDS31414.1	11	.	.	.	.	.	.	.	.	.	.	c	5.147	0.212688	0.09757	.	.	ENSG00000170803	ENST00000307401	T	0.01388	4.95	3.89	1.47	0.22746	GPCR, rhodopsin-like superfamily (1);	0.367913	0.23209	N	0.050698	T	0.00998	0.0033	N	0.14661	0.345	0.21445	N	0.999683	B	0.02656	0.0	B	0.04013	0.001	T	0.48043	-0.9069	10	0.56958	D	0.05	.	4.8236	0.13405	0.5093:0.3885:0.1023:0.0	.	131	Q9H205	O2AG1_HUMAN	K	131	ENSP00000307447:T131K	ENSP00000307447:T131K	T	+	2	0	OR2AG1	6763236	0.000000	0.05858	0.999000	0.59377	0.157000	0.22087	-0.317000	0.08060	0.174000	0.19809	-0.339000	0.08088	ACA	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.532	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2AG1	protein_coding	OTTHUMT00000385980.1	C	NM_001004489		6763236	1	no_errors	NM_001004489.1	genbank	human	provisional	54_36p	missense	SNP	0.977	A	A	6806660	C	A	6806660	3	1	43	1	0	0	0	0	1	0	0	0	10984	478	17	4	394	4	OR2AG1	11	6806660	Missense_Mutation	SNP	C	TCGA-AB-2847-03B-01W-0728-08		6806660	128199856	7	453											
ACSM2A	123876	genome.wustl.edu	37	16	20482538	20482538	+	Splice_Site	SNP	G	G	A			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr16:20482538G>A	ENST00000573854.1	+	5	854	c.740G>A	c.(739-741)gGt>gAt	p.G247D	ACSM2A_ENST00000396104.2_Splice_Site_p.G247D|ACSM2A_ENST00000417235.2_Splice_Site_p.G168D|ACSM2A_ENST00000219054.6_Splice_Site_p.G247D|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Splice_Site_p.G247D|ACSM2A_ENST00000536134.1_Splice_Site_p.G19D	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	247					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATGGATGCTGGGTAAGCTGAG	0.483																																						dbGAP											0			16											70	68	69					16																	20482538		2203	4300	6503	20390039	SO:0001630	splice_region_variant	0			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"Acyl-CoA synthetase family"	32017	protein-coding gene	gene with protein product		614358	"acyl-CoA synthetase medium-chain family member 2"	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.740+1G>A	16.37:g.20482538G>A		233	0.42	1					20390039	214	37.36	130	B3KTT9|O75202	Missense_Mutation	SNP	HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like	p.G247D	ENST00000573854.1	37	c.740	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	G	8.186	0.794919	0.16327	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.47177	1.1;1.1;0.85;1.1	4.04	-2.62	0.06152	AMP-dependent synthetase/ligase (1);	2.480540	0.01759	N	0.030413	T	0.27832	0.0685	N	0.13299	0.325	0.80722	D	1	B;B	0.31837	0.219;0.342	B;B	0.31547	0.132;0.132	T	0.14062	-1.0486	10	0.59425	D	0.04	-0.6841	1.3649	0.02199	0.2685:0.1432:0.4417:0.1466	.	168;247	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	D	168;247;19;247	ENSP00000392169:G168D;ENSP00000219054:G247D;ENSP00000445082:G19D;ENSP00000379411:G247D	ENSP00000219054:G247D	G	+	2	0	ACSM2A	20390039	0.962000	0.33011	0.069000	0.20011	0.302000	0.27658	0.889000	0.28282	-0.403000	0.07622	0.298000	0.19748	GGT	-	HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like		0.483	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	protein_coding	OTTHUMT00000436764.1	G	NM_001010845	Missense_Mutation	20390039	1	no_errors	NM_001010845.2	genbank	human	validated	54_36p	missense	SNP	0.999	A	A	20482538	G	A	20482538	5	1	43	1	0	0	0	0	0	0	1	0	183	1246	43	2	754	2	ACSM2A	16	20482538	Splice_Site	SNP	G	TCGA-AB-2847-03B-01W-0728-08		20482538	69872215	8	454											
SLC12A3	6559	genome.wustl.edu	37	16	56933508	56933508	+	Silent	SNP	C	C	T			TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr16:56933508C>T	ENST00000563236.1	+	23	2725	c.2700C>T	c.(2698-2700)aaC>aaT	p.N900N	SLC12A3_ENST00000438926.2_Silent_p.N909N|SLC12A3_ENST00000262502.5_Silent_p.N899N|SLC12A3_ENST00000566786.1_Silent_p.N908N			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	900					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTGACATCAACCAGAACCCTC	0.537																																						dbGAP											0			16											133	121	125					16																	56933508		2198	4300	6498	55491009	SO:0001819	synonymous_variant	0				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"Solute carriers"	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.2700C>T	16.37:g.56933508C>T		316	0.93	3		2	0	0	55491009	164	30.38	72	A8MSJ2|C9JNN9	Silent	SNP	HMMPfam_AA_permease,HMMPfam_AA_permease_N	p.N909	ENST00000563236.1	37	c.2727	CCDS58464.1	16																																																																																			-	NULL		0.537	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC12A3	protein_coding	OTTHUMT00000432337.1	C			55491009	1	no_errors	NM_000339.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	56933508	C	T	56933508	2	4	43	1	0	0	0	0	0	0	0	1	14384	506	18	2		2	SLC12A3	16	56933508	Silent	SNP	C	TCGA-AB-2847-03B-01W-0728-08	36450970	56933508	33421245	9	455											
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-AB-2847-03B-01W-0728-08	TCGA-AB-2847-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	38b6c99c-08a1-4341-8945-46c0e722e43f	2fa70aaf-e4b8-41f3-b226-521b4e259315	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	21						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	43397525	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	74	2.6	2		64	56.76	84	43397525	45	27.42	17	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	G	NM_006758		43397525	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	44524456	G	A	44524456	3	1	43	1	0	0	0	0	1	0	0	0	16818	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-AB-2847-03B-01W-0728-08		44524456	3605439	10	456											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CAAG			TCGA-AB-2848-03B-01W-0728-08	TCGA-AB-2848-11B-01W-0729-08	-	-	-	CAAG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	248fcde9-6f05-4135-b181-1853e06c9ffe	55fc82f9-8a9e-48dd-b675-99e0622e22c3	g.chr5:170837547_170837548insCAAG	ENST00000296930.5	+	11	1164_1165	c.863_864insCAAG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCAAG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CAAG	CAAG	170837548	-	CAAG	170837547	7	5	44	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2848-03B-01W-0728-08		170837547	10077713	1	457											
PRAMEF2	65122	genome.wustl.edu	37	1	12919997	12919997	+	Missense_Mutation	SNP	C	C	T	rs143792800		TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr1:12919997C>T	ENST00000240189.2	+	3	824	c.737C>T	c.(736-738)aCg>aTg	p.T246M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	246					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCATTACACGTCAGATAAT	0.438																																						dbGAP											0			1						C	MET/THR	0,4406		0,0,2203	111	112	112		737	0.8	0	1	dbSNP_134	112	2,8596	2.2+/-6.3	0,2,4297	no	missense	PRAMEF2	NM_023014.1	81	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign	246/475	12919997	2,13002	2203	4299	6502	12842584	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.737C>T	1.37:g.12919997C>T	ENSP00000240189:p.Thr246Met	88	0	0					12842584	61	38.38	38		Missense_Mutation	SNP	superfamily_SSF52047	p.T246M	ENST00000240189.2	37	c.737	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	1.155	-0.645421	0.03531	0.0	2.33E-4	ENSG00000120952	ENST00000240189	T	0.01414	4.92	0.842	0.842	0.18927	.	1.336560	0.05111	N	0.488877	T	0.01287	0.0042	N	0.19112	0.55	0.09310	N	1	B	0.15473	0.013	B	0.11329	0.006	T	0.46317	-0.9200	10	0.34782	T	0.22	.	5.0452	0.14480	0.0:1.0:0.0:0.0	.	246	O60811	PRAM2_HUMAN	M	246	ENSP00000240189:T246M	ENSP00000240189:T246M	T	+	2	0	PRAMEF2	12842584	0.000000	0.05858	0.001000	0.08648	0.030000	0.12068	-0.502000	0.06390	0.759000	0.33084	0.194000	0.17425	ACG	-	superfamily_SSF52047		0.438	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	C	NM_023014		12842584	1	no_errors	NM_023014.1	genbank	human	provisional	54_36p	missense	SNP	0.009	T	T	12919997	C	T	12919997	3	4	45	1	0	0	0	0	1	0	0	0	12435	536	19	1	743	1	PRAMEF2	1	12919997	Missense_Mutation	SNP	C	TCGA-AB-2849-03B-01W-0728-08		12919997	236330624	1	458											
PRAMEF16	654348	genome.wustl.edu	37	1	13497875	13497875	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr1:13497875C>T	ENST00000376121.3	+	3	1202	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M		NM_001045480.1	NP_001038945.1	Q5VWM1	PRA16_HUMAN	PRAME family member 16	391					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)							Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACCTCCACGAATGCTCTG	0.572																																						dbGAP											0			1											4	3	3					1																	13497875		1670	2887	4557	13370462	SO:0001583	missense	0					1p36.21	2013-01-17			ENSG00000204488			"-"	25767	protein-coding gene	gene with protein product							Standard	NM_001045480		Approved	OTTHUMG00000002933	uc001aux.3	Q5VWM1	OTTHUMG00000002933	ENST00000376121.3:c.1172C>T	1.37:g.13497875C>T	ENSP00000365289:p.Thr391Met	6	0	0					13370462	4	20	1		Missense_Mutation	SNP	superfamily_SSF52047	p.T391M	ENST00000376121.3	37	c.1172	CCDS41259.1	1	.	.	.	.	.	.	.	.	.	.	c	0	-2.837488	0.00069	.	.	ENSG00000204488	ENST00000376121	T	0.09163	3.01	1.39	-2.14	0.07123	.	0.482971	0.20276	N	0.095553	T	0.01156	0.0038	N	0.00044	-2.455	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41980	-0.9478	10	0.02654	T	1	.	5.1887	0.15197	0.0:0.2098:0.0:0.7902	.	391	Q5VWM1	PRA16_HUMAN	M	391	ENSP00000365289:T391M	ENSP00000365289:T391M	T	+	2	0	PRAMEF16	13370462	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.366000	0.07563	-0.449000	0.07117	-1.128000	0.01989	ACG	-	superfamily_SSF52047		0.572	PRAMEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF16	protein_coding	OTTHUMT00000008178.1	C	NM_001045480		13370462	1	no_errors	NM_001045480.1	genbank	human	provisional	54_36p	missense	SNP	0.012	T	T	13497875	C	T	13497875	3	4	45	1	0	0	0	0	1	0	0	0	12431	536	19	1	1182	1	PRAMEF16	1	13497875	Missense_Mutation	SNP	C	TCGA-AB-2849-03B-01W-0728-08	577878	13497875	235752746	2	459											
SPEN	23013	genome.wustl.edu	37	1	16260238	16260238	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr1:16260238G>A	ENST00000375759.3	+	11	7707	c.7503G>A	c.(7501-7503)tgG>tgA	p.W2501*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2501	Pro-rich.|RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGACAGAGTGGATCACAAGGC	0.587																																						dbGAP											0			1											93	91	92					1																	16260238		2203	4300	6503	16132825	SO:0001587	stop_gained	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7503G>A	1.37:g.16260238G>A	ENSP00000364912:p.Trp2501*	46	0	0		33	47.62	30	16132825	34	46.88	30	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Nonsense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928	p.W2501*	ENST00000375759.3	37	c.7503	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	48	14.850088	0.99812	.	.	ENSG00000065526	ENST00000375759	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-9.1587	19.1699	0.93574	0.0:0.0:1.0:0.0	.	.	.	.	X	2501	.	ENSP00000364912:W2501X	W	+	3	0	SPEN	16132825	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.972000	0.63756	2.535000	0.85469	0.561000	0.74099	TGG	-	NULL		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16132825	1	no_errors	NM_015001.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	16260238	G	A	16260238	4	1	45	1	0	0	0	0	0	1	0	0	15037	1183	41	2	7545	2	SPEN	1	16260238	Nonsense_Mutation	SNP	G	TCGA-AB-2849-03B-01W-0728-08	2762363	16260238	232990383	3	460											
THRAP3	9967	genome.wustl.edu	37	1	36762236	36762236	+	Missense_Mutation	SNP	G	G	A	rs375288205		TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr1:36762236G>A	ENST00000354618.5	+	9	2392	c.2168G>A	c.(2167-2169)cGt>cAt	p.R723H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R723H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	723	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATATTGAACGTCGTAAAAAA	0.413			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	dbGAP		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0			1						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	110	111	111		2168	5.8	1	1		111	0,8600		0,0,4300	no	missense	THRAP3	NM_005119.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	723/956	36762236	1,13005	2203	4300	6503	36534823	SO:0001583	missense	0			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2168G>A	1.37:g.36762236G>A	ENSP00000346634:p.Arg723His	148	0	0		98	39.51	64	36534823	50	41.86	36	D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.R723H	ENST00000354618.5	37	c.2168	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642511	0.87859	2.27E-4	0.0	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.30714	1.52;1.52	5.75	5.75	0.90469	.	0.067813	0.64402	D	0.000007	T	0.34279	0.0892	L	0.54323	1.7	0.80722	D	1	P	0.43826	0.818	B	0.39419	0.299	T	0.09552	-1.0669	10	0.51188	T	0.08	-3.3789	19.2998	0.94140	0.0:0.0:1.0:0.0	.	723	Q9Y2W1	TR150_HUMAN	H	723	ENSP00000346634:R723H;ENSP00000433825:R723H	ENSP00000346634:R723H	R	+	2	0	THRAP3	36534823	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.471000	0.97696	2.866000	0.98385	0.650000	0.86243	CGT	-	NULL		0.413	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	protein_coding	OTTHUMT00000021688.2	G	NM_005119		36534823	1	no_errors	NM_005119.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	36762236	G	A	36762236	3	1	45	1	0	0	0	0	1	0	0	0	15871	1145	40	1	2194	1	THRAP3	1	36762236	Missense_Mutation	SNP	G	TCGA-AB-2849-03B-01W-0728-08	20501998	36762236	212488385	4	461											
GBP1	2633	genome.wustl.edu	37	1	89520512	89520512	+	Missense_Mutation	SNP	C	C	A	rs370603771		TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr1:89520512C>A	ENST00000370473.4	-	10	1737	c.1518G>T	c.(1516-1518)ttG>ttT	p.L506F	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	506					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCATTTCCTGCAACATTTTTG	0.443																																						dbGAP											0			1											371	381	377					1																	89520512		2203	4300	6503	89293100	SO:0001583	missense	0			BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"guanylate binding protein 1, interferon-inducible, 67kDa"			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.1518G>T	1.37:g.89520512C>A	ENSP00000359504:p.Leu506Phe	84	0	0		30	16.67	6	89293100	69	40.52	47	D3DT26|Q5T8M1	Missense_Mutation	SNP	HMMPfam_GBP_C,HMMPfam_GBP,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L506F	ENST00000370473.4	37	c.1518	CCDS718.1	1	.	.	.	.	.	.	.	.	.	.	C	12.82	2.052140	0.36181	.	.	ENSG00000117228	ENST00000370473;ENST00000542693	T	0.59364	0.27	4.67	2.73	0.32206	Guanylate-binding protein, C-terminal (3);	0.608156	0.15389	N	0.264908	T	0.64483	0.2602	M	0.90922	3.16	0.26306	N	0.977907	D	0.53745	0.962	P	0.57057	0.812	T	0.58618	-0.7605	10	0.87932	D	0	.	8.6173	0.33840	0.0:0.8053:0.0:0.1947	.	506	P32455	GBP1_HUMAN	F	506;469	ENSP00000359504:L506F	ENSP00000359504:L506F	L	-	3	2	GBP1	89293100	0.000000	0.05858	0.358000	0.25811	0.148000	0.21650	-1.060000	0.03475	0.927000	0.37143	0.491000	0.48974	TTG	-	HMMPfam_GBP_C,superfamily_Interferon-induced guanylate-binding protein 1 (GBP1) C-terminal domain		0.443	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP1	protein_coding	OTTHUMT00000029289.3	C	NM_002053		89293100	-1	no_errors	NM_002053.2	genbank	human	validated	54_36p	missense	SNP	0.478	A	A	89520512	C	A	89520512	3	1	45	1	0	0	0	0	1	0	0	0	6273	709	25	4	268	4	GBP1	1	89520512	Missense_Mutation	SNP	C	TCGA-AB-2849-03B-01W-0728-08	52758276	89520512	159730109	5	462											
NLRC4	58484	genome.wustl.edu	37	2	32477645	32477645	+	Silent	SNP	G	G	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr2:32477645G>A	ENST00000404025.2	-	4	593	c.105C>T	c.(103-105)cgC>cgT	p.R35R	NLRC4_ENST00000402280.1_Silent_p.R35R|NLRC4_ENST00000360906.5_Silent_p.R35R|NLRC4_ENST00000342905.6_Silent_p.R35R			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	35	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTACTTCTTCGCGATTCAGAA	0.403																																						dbGAP											0			2											163	148	153					2																	32477645		2203	4300	6503	32331149	SO:0001819	synonymous_variant	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.105C>T	2.37:g.32477645G>A		49	0	0		2	0	0	32331149	75	44.03	59	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	HMMPfam_CARD,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R35	ENST00000404025.2	37	c.105	CCDS33174.1	2																																																																																			-	HMMPfam_CARD,superfamily_DEATH domain		0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	protein_coding	OTTHUMT00000325222.2	G	NM_021209		32331149	-1	no_errors	NM_021209.3	genbank	human	validated	54_36p	silent	SNP	0.000	A	A	32477645	G	A	32477645	2	1	45	1	0	0	0	0	0	0	0	1	10469	1074	38	1		1	NLRC4	2	32477645	Silent	SNP	G	TCGA-AB-2849-03B-01W-0728-08		32477645	210721728	6	463											
SNRNP200	23020	genome.wustl.edu	37	2	96968974	96968974	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr2:96968974A>G	ENST00000323853.5	-	3	381	c.304T>C	c.(304-306)Tac>Cac	p.Y102H	SNRNP200_ENST00000349783.5_Missense_Mutation_p.Y102H	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	102					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TTGGGCTTGTAGATGATGCCC	0.488																																						dbGAP											0			2											323	321	322					2																	96968974		2203	4300	6503	96332701	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"U5 snRNP specific protein, 200 KD"	601664	"activating signal cointegrator 1 complex subunit 3-like 1", "retinitis pigmentosa 33 (autosomal dominant)"	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.304T>C	2.37:g.96968974A>G	ENSP00000317123:p.Tyr102His	50	0	0		80	43.75	63	96332701	50	37.5	30	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_Sec63,HMMPfam_DEAD,HMMSmart_SM00487,HMMSmart_SM00611,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Y102H	ENST00000323853.5	37	c.304	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	A	27.7	4.850812	0.91277	.	.	ENSG00000144028	ENST00000323853;ENST00000349783	T;T	0.43294	0.95;0.95	5.87	5.87	0.94306	.	0.061125	0.64402	D	0.000002	T	0.73489	0.3593	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81165	-0.1057	10	0.87932	D	0	-10.5085	15.2631	0.73640	1.0:0.0:0.0:0.0	.	102	O75643	U520_HUMAN	H	102	ENSP00000317123:Y102H;ENSP00000326937:Y102H	ENSP00000317123:Y102H	Y	-	1	0	SNRNP200	96332701	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	8.873000	0.92357	2.248000	0.74166	0.533000	0.62120	TAC	-	NULL		0.488	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	protein_coding	OTTHUMT00000252846.2	A	NM_014014		96332701	-1	no_errors	NM_014014.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	96968974	A	G	96968974	3	3	45	1	0	0	0	0	1	0	0	0	14852	420	15	3	6278	3	SNRNP200	2	96968974	Missense_Mutation	SNP	A	TCGA-AB-2849-03B-01W-0728-08	64491329	96968974	146230399	7	464											
CASP10	843	genome.wustl.edu	37	2	202060580	202060580	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr2:202060580C>A	ENST00000272879.5	+	5	777	c.593C>A	c.(592-594)aCa>aAa	p.T198K	CASP10_ENST00000448480.1_Missense_Mutation_p.T198K|CASP10_ENST00000286186.6_Missense_Mutation_p.T198K|CASP10_ENST00000360132.3_Missense_Mutation_p.T198K|CASP10_ENST00000374650.3_Missense_Mutation_p.T198K|CASP10_ENST00000346817.5_Missense_Mutation_p.T198K|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000313728.7_Missense_Mutation_p.T198K	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	198					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CAGATAGTGACACCTCCTGTA	0.438																																						dbGAP											0			2											186	179	181					2																	202060580		2203	4300	6503	201768825	SO:0001583	missense	0			U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"Caspases"	1500	protein-coding gene	gene with protein product		601762	"caspase 10, apoptosis-related cysteine protease"			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	ENST00000272879.5:c.593C>A	2.37:g.202060580C>A	ENSP00000272879:p.Thr198Lys	103	0	0		35	22.22	10	201768825	109	35.5	60	Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Missense_Mutation	SNP	HMMPfam_DED,HMMSmart_DED,superfamily_DEATH_like,HMMPfam_Peptidase_C14,HMMSmart_CASc,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS,superfamily_SSF52129	p.T198K	ENST00000272879.5	37	c.593	CCDS2338.1	2	.	.	.	.	.	.	.	.	.	.	C	7.122	0.578118	0.13686	.	.	ENSG00000003400	ENST00000286186;ENST00000360132;ENST00000272879;ENST00000374650;ENST00000346817;ENST00000313728;ENST00000448480	T;T;T;T;T;T;T	0.44881	4.52;0.91;4.45;0.95;4.44;4.16;4.36	2.12	0.281	0.15687	.	3.442450	0.00887	N	0.002180	T	0.19287	0.0463	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.30068	0.157;0.228;0.139;0.05;0.05;0.267	B;B;B;B;B;B	0.27796	0.051;0.083;0.017;0.037;0.037;0.039	T	0.19418	-1.0306	10	0.05436	T	0.98	.	4.3457	0.11131	0.0:0.6442:0.0:0.3558	.	198;198;198;198;198;198	Q92851-6;Q92851-5;Q92851;Q92851-2;Q92851-4;Q68HC0	.;.;CASPA_HUMAN;.;.;.	K	198	ENSP00000286186:T198K;ENSP00000353250:T198K;ENSP00000272879:T198K;ENSP00000363781:T198K;ENSP00000237865:T198K;ENSP00000314599:T198K;ENSP00000396835:T198K	ENSP00000272879:T198K	T	+	2	0	CASP10	201768825	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.680000	0.05197	0.070000	0.16634	-0.254000	0.11334	ACA	-	NULL		0.438	CASP10-002	KNOWN	basic|CCDS	protein_coding	CASP10	protein_coding	OTTHUMT00000256273.1	C	NM_032977		201768825	1	no_errors	NM_032977.4	genbank	human	reviewed	54_36p	missense	SNP	0.002	A	A	202060580	C	A	202060580	3	1	45	1	0	0	0	0	1	0	0	0	2669	478	17	4	607	4	CASP10	2	202060580	Missense_Mutation	SNP	C	TCGA-AB-2849-03B-01W-0728-08	105091606	202060580	41138793	8	465											
LRRFIP1	9208	genome.wustl.edu	37	2	238617188	238617188	+	Splice_Site	SNP	C	C	T	rs143725016		TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr2:238617188C>T	ENST00000392000.4	+	2	185	c.68C>T	c.(67-69)gCg>gTg	p.A23V	LRRFIP1_ENST00000244815.5_Splice_Site_p.A23V|LRRFIP1_ENST00000289175.6_Splice_Site_p.A23V|LRRFIP1_ENST00000308482.9_Splice_Site_p.A33V	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	23					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CCGTTTCAGGCGGAAGCCCGG	0.602																																						dbGAP											0			2						C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405		0,1,2202	18	20	19		98,68,68,68,68	5.6	1	2	dbSNP_134	19	0,8594		0,0,4297	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	LRRFIP1	NM_001137550.1,NM_001137551.1,NM_001137552.1,NM_001137553.1,NM_004735.3	64,64,64,64,64	0,1,6499	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	33/641,23/395,23/809,23/753,23/785	238617188	1,12999	2203	4297	6500	238281927	SO:0001630	splice_region_variant	0			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"GC-binding factor 2"	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.67-1C>T	2.37:g.238617188C>T		25	0	0		4	66.67	8	238281927	18	37.93	11	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	HMMPfam_DUF2051	p.A23V	ENST00000392000.4	37	c.68	CCDS46552.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.083565	0.94050	2.27E-4	0.0	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000420665;ENST00000392000	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.84948	2.725	0.53688	D	0.999972	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.995;0.999;0.999;0.999;0.995	T	0.81189	-0.1046	10	0.66056	D	0.02	-19.4161	15.2014	0.73139	0.0:1.0:0.0:0.0	.	23;23;23;23;33	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	V	33;23;23;23;23;23	ENSP00000310109:A33V;ENSP00000289175:A23V;ENSP00000244815:A23V;ENSP00000409431:A23V;ENSP00000375857:A23V	ENSP00000244815:A23V	A	+	2	0	LRRFIP1	238281927	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	5.867000	0.69597	2.657000	0.90304	0.655000	0.94253	GCG	-	HMMPfam_DUF2051		0.602	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	LRRFIP1	protein_coding	OTTHUMT00000317198.1	C	NM_004735	Missense_Mutation	238281927	1	no_errors	NM_004735.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	238617188	C	T	238617188	5	4	45	1	0	0	0	0	0	0	1	0	9027	782	27	1	174	1	LRRFIP1	2	238617188	Splice_Site	SNP	C	TCGA-AB-2849-03B-01W-0728-08	36556608	238617188	4582185	9	466											
DCTD	1635	genome.wustl.edu	37	4	183836708	183836708	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr4:183836708G>A	ENST00000438320.2	-	2	304	c.14C>T	c.(13-15)tCc>tTc	p.S5F	DCTD_ENST00000510370.1_Missense_Mutation_p.S5F|DCTD_ENST00000357067.3_Missense_Mutation_p.S16F|DCTD_ENST00000513383.1_5'UTR	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	5					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	TTTCTTGCAGGAAACTTCACT	0.413																																						dbGAP											0			4											116	126	123					4																	183836708		2203	4300	6503	184073702	SO:0001583	missense	0			L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.14C>T	4.37:g.183836708G>A	ENSP00000398194:p.Ser5Phe	32	0	0		24	29.41	10	184073702	35	27.08	13	B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	HMMPfam_dCMP_cyt_deam_1,PatternScan_CYT_DCMP_DEAMINASES,superfamily_Cytidine_deaminase-like	p.S16F	ENST00000438320.2	37	c.47	CCDS3831.1	4	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634481	0.47049	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182;ENST00000510307;ENST00000512766;ENST00000514754;ENST00000503820;ENST00000503988;ENST00000508994	.	.	.	4.7	2.98	0.34508	.	0.593475	0.18857	N	0.129231	T	0.36248	0.0960	N	0.22421	0.69	0.38115	D	0.937687	P;B	0.40144	0.704;0.21	B;B	0.36244	0.22;0.1	T	0.35748	-0.9776	9	0.59425	D	0.04	-11.6272	10.8017	0.46493	0.1524:0.0:0.8476:0.0	.	16;5	P32321-2;P32321	.;DCTD_HUMAN	F	16;5;5;5;5;5;5;5;5;5	.	ENSP00000349576:S16F	S	-	2	0	DCTD	184073702	0.961000	0.32948	0.939000	0.37840	0.955000	0.61496	1.513000	0.35823	0.708000	0.31955	0.655000	0.94253	TCC	-	NULL		0.413	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTD	protein_coding	OTTHUMT00000361743.2	G			184073702	-1	no_errors	NM_001012732.1	genbank	human	reviewed	54_36p	missense	SNP	0.752	A	A	183836708	G	A	183836708	3	1	45	1	0	0	0	0	1	0	0	0	4305	1174	41	2	542	2	DCTD	4	183836708	Missense_Mutation	SNP	G	TCGA-AB-2849-03B-01W-0728-08		183836708	7317568	10	467											
TRIO	7204	genome.wustl.edu	37	5	14287024	14287024	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr5:14287024G>A	ENST00000344204.4	+	4	416	c.392G>A	c.(391-393)cGt>cAt	p.R131H	TRIO_ENST00000537187.1_Missense_Mutation_p.R131H|TRIO_ENST00000509967.2_Missense_Mutation_p.R82H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	131	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTGGACATGCGTGGGTCCAAG	0.557																																						dbGAP											0			5											110	98	102					5																	14287024		2203	4300	6503	14340024	SO:0001583	missense	0			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"Rho guanine nucleotide exchange factors", "Immunoglobulin superfamily / I-set domain containing"	12303	protein-coding gene	gene with protein product		601893	"triple functional domain (PTPRF interacting)"			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.392G>A	5.37:g.14287024G>A	ENSP00000339299:p.Arg131His	76	1.3	1		1	0	0	14340024	76	31.58	36	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMSmart_SM00219,HMMSmart_SM00516,superfamily_CRAL/TRIO domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,HMMPfam_Pkinase,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Immunoglobulin,superfamily_PH domain-like	p.R131H	ENST00000344204.4	37	c.392	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712692	0.89112	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.63096	-0.02;-0.02;-0.02	5.55	5.55	0.83447	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.87501	0.2433	10	0.87932	D	0	.	19.505	0.95111	0.0:0.0:1.0:0.0	.	82;131	F5H228;O75962	.;TRIO_HUMAN	H	131;131;82	ENSP00000339299:R131H;ENSP00000446348:R131H;ENSP00000445592:R82H	ENSP00000339299:R131H	R	+	2	0	TRIO	14340024	1.000000	0.71417	0.966000	0.40874	0.932000	0.56968	9.869000	0.99810	2.616000	0.88540	0.585000	0.79938	CGT	-	HMMSmart_SM00516,superfamily_CRAL/TRIO domain		0.557	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14340024	1	no_errors	NM_007118.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	14287024	G	A	14287024	3	1	45	1	0	0	0	0	1	0	0	0	16549	1145	40	1	406	1	TRIO	5	14287024	Missense_Mutation	SNP	G	TCGA-AB-2849-03B-01W-0728-08		14287024	166628236	11	468											
KDM3B	51780	genome.wustl.edu	37	5	137729043	137729043	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr5:137729043G>A	ENST00000314358.5	+	9	3013	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H	KDM3B_ENST00000394866.1_Missense_Mutation_p.R594H|KDM3B_ENST00000542866.1_5'UTR	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	938					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R938L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTAGCCTGCCGTTTCTTTCAC	0.458																																						dbGAP											1	Substitution - Missense(1)	prostate(1)	5											58	55	56					5																	137729043		2203	4300	6503	137756942	SO:0001583	missense	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2813G>A	5.37:g.137729043G>A	ENSP00000326563:p.Arg938His	85	0	0		4	94.03	63	137756942	16	65.22	30	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like	p.R938H	ENST00000314358.5	37	c.2813	CCDS34242.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.431585	0.96150	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;D	0.85702	-1.46;-2.02	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.93077	0.7796	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.92216	0.5780	10	0.51188	T	0.08	-15.8016	20.4062	0.99009	0.0:0.0:1.0:0.0	.	594;938	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	H	938;728;594	ENSP00000326563:R938H;ENSP00000378335:R594H	ENSP00000326563:R938H	R	+	2	0	KDM3B	137756942	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.831000	0.97527	0.655000	0.94253	CGT	-	NULL		0.458	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD1B	protein_coding	OTTHUMT00000373597.1	G	NM_016604		137756942	1	no_errors	NM_016604.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	137729043	G	A	137729043	3	1	45	1	0	0	0	0	1	0	0	0	8127	1145	40	1	2847	1	KDM3B	5	137729043	Missense_Mutation	SNP	G	TCGA-AB-2849-03B-01W-0728-08	123442019	137729043	43186217	12	469											
PRPF4B	8899	genome.wustl.edu	37	6	4049339	4049339	+	Splice_Site	SNP	T	T	C			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr6:4049339T>C	ENST00000337659.6	+	8	2125	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	PRPF4B_ENST00000538861.1_Splice_Site_p.Y661Y	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	675					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAGGCTATTATCGTAAGTTCA	0.388																																						dbGAP											0			6											69	69	69					6																	4049339		2203	4300	6503	3994338	SO:0001630	splice_region_variant	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2026+1T>C	6.37:g.4049339T>C		79	0	0		11	68.57	24	3994338	78	29.09	32	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase	p.Y675	ENST00000337659.6	37	c.2025	CCDS4488.1	6																																																																																			-	superfamily_Protein kinase-like (PK-like)		0.388	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	protein_coding	OTTHUMT00000314018.2	T		Silent	3994338	1	no_errors	NM_003913.4	genbank	human	reviewed	54_36p	silent	SNP	0.991	C	C	4049339	T	C	4049339	5	2	45	1	0	0	0	0	0	0	1	0	12573	1449	50	3	2055	3	PRPF4B	6	4049339	Splice_Site	SNP	T	TCGA-AB-2849-03B-01W-0728-08		4049339	167065728	13	470											
ZPBP	11055	genome.wustl.edu	37	7	50022985	50022985	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr7:50022985C>G	ENST00000046087.2	-	7	983	c.914G>C	c.(913-915)gGa>gCa	p.G305A	ZPBP_ENST00000419417.1_Missense_Mutation_p.G304A|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	305					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CATTCCATATCCTGGAAAGCA	0.343																																						dbGAP											0			7											93	88	90					7																	50022985		2203	4300	6503	49993531	SO:0001583	missense	0			D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.914G>C	7.37:g.50022985C>G	ENSP00000046087:p.Gly305Ala	22	4.35	1					49993531	28	41.67	20	A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	HMMPfam_Sp38	p.G305A	ENST00000046087.2	37	c.914	CCDS5509.1	7	.	.	.	.	.	.	.	.	.	.	C	19.41	3.823146	0.71143	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.69175	-0.38;-0.38	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000009	D	0.82962	0.5151	M	0.80183	2.485	0.43902	D	0.996532	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83113	-0.0122	9	.	.	.	-17.2922	17.8445	0.88725	0.0:1.0:0.0:0.0	.	304;305	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	A	305;304	ENSP00000046087:G305A;ENSP00000402071:G304A	.	G	-	2	0	ZPBP	49993531	0.994000	0.37717	0.982000	0.44146	0.956000	0.61745	3.346000	0.52190	2.733000	0.93635	0.637000	0.83480	GGA	-	HMMPfam_Sp38		0.343	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZPBP	protein_coding	OTTHUMT00000251374.1	C	NM_007009		49993531	-1	no_errors	NM_007009.1	genbank	human	provisional	54_36p	missense	SNP	0.990	G	G	50022985	C	G	50022985	3	3	45	1	0	0	0	0	1	0	0	0	18216	855	30	4	149	4	ZPBP	7	50022985	Missense_Mutation	SNP	C	TCGA-AB-2849-03B-01W-0728-08		50022985	109115678	14	471											
DOCK8	81704	genome.wustl.edu	37	9	434936	434937	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr9:434936_434937insT	ENST00000453981.1	+	39	5152_5153	c.5040_5041insT	c.(5041-5043)gacfs	p.D1681fs	DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.D1581fs|DOCK8_ENST00000432829.2_Frame_Shift_Ins_p.D1613fs|DOCK8_ENST00000382329.1_Frame_Shift_Ins_p.D1148fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1681	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCATGCTGGAGGACCACAGCTA	0.574																																						dbGAP											0			9																																								424937	SO:0001589	frameshift_variant	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	Exception_encountered	9.37:g.434936_434937insT	ENSP00000408464:p.Asp1681fs	48	0	0		21	0	0	424936	42	23.64	13	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Ins	INS	HMMPfam_Ded_cyto	p.D1612fs	ENST00000453981.1	37	c.4836_4837	CCDS6440.2	9																																																																																			-	NULL		0.574	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	-	XM_036307		424937	1	no_errors	NM_203447.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	T	T	434937	-	T	434936	7	5	45	1	0	1	1	0	0	0	0	0	4693	991	35	0	5194	0	DOCK8	9	434936	Frame_Shift_Ins	INS	-	TCGA-AB-2849-03B-01W-0728-08		434936	140778495	15	472											
MYST4	23522	genome.wustl.edu	37	10	76735895	76735895	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr10:76735895C>G	ENST00000287239.4	+	8	2289	c.1800C>G	c.(1798-1800)caC>caG	p.H600Q	KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	600	Negatively regulates HAT activity.|Poly-Ser.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										TTATTTCTCACTCCTCCTCCT	0.423																																						dbGAP											0			10											69	71	70					10																	76735895		2203	4300	6503	76405901	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"Chromatin-modifying enzymes / K-acetyltransferases", "Zinc fingers, C2HC-type containing", "Zinc fingers, PHD-type"	17582	protein-coding gene	gene with protein product	"MOZ-related factor"	605880	"MYST histone acetyltransferase (monocytic leukemia) 4"	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1800C>G	10.37:g.76735895C>G	ENSP00000287239:p.His600Gln	46	0	0		12	52	13	76405901	58	36.96	34	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	HMMSmart_SM00249,HMMPfam_MOZ_SAS,HMMSmart_SM00526,superfamily_FYVE/PHD zinc finger,superfamily_Acyl-CoA N-acyltransferases (Nat),PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_"Winged helix" DNA-binding domain	p.H600Q	ENST00000287239.4	37	c.1800	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	C	3.419	-0.118520	0.06838	.	.	ENSG00000156650	ENST00000287239	T	0.76060	-0.99	5.16	2.19	0.27852	.	0.132944	0.33938	N	0.004410	T	0.46014	0.1371	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.18713	-1.0328	9	.	.	.	-3.7629	4.0278	0.09695	0.0:0.5562:0.2259:0.2179	.	600	Q8WYB5	KAT6B_HUMAN	Q	600	ENSP00000287239:H600Q	.	H	+	3	2	KAT6B	76405901	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.436000	0.21526	1.140000	0.42260	0.655000	0.94253	CAC	-	NULL		0.423	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYST4	protein_coding	OTTHUMT00000048771.1	C	NM_012330		76405901	1	no_errors	NM_012330.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	76735895	C	G	76735895	3	3	45	1	0	0	0	0	1	0	0	0	10105	564	20	4	1822	4	MYST4	10	76735895	Missense_Mutation	SNP	C	TCGA-AB-2849-03B-01W-0728-08		76735895	58798852	16	473											
NAV2	89797	genome.wustl.edu	37	11	20075635	20075635	+	Silent	SNP	C	C	T			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr11:20075635C>T	ENST00000396087.3	+	19	4659	c.4560C>T	c.(4558-4560)ccC>ccT	p.P1520P	NAV2_ENST00000396085.1_Silent_p.P1497P|NAV2_ENST00000349880.4_Silent_p.P1497P|NAV2_ENST00000540292.1_Silent_p.P1451P|NAV2_ENST00000527559.2_Silent_p.P1449P|NAV2_ENST00000360655.4_Silent_p.P1433P|NAV2_ENST00000311043.8_Silent_p.P561P|NAV2_ENST00000533917.1_Silent_p.P561P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1520	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GGTATACTCCCACCTCCCAGC	0.448																																						dbGAP											0			11											75	61	66					11																	20075635		2203	4300	6503	20032211	SO:0001819	synonymous_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"pore membrane and/or filament interacting like protein 2", "retinoic acid inducible gene in neuroblastoma 1", "helicase, APC down-regulated 1"	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4560C>T	11.37:g.20075635C>T		116	0.85	1		1	66.67	2	20032211	52	34.18	27	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	HMMPfam_CH,HMMSmart_SM00033,HMMSmart_SM00382,superfamily_Calponin-homology domain CH-domain,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.P1520	ENST00000396087.3	37	c.4560	CCDS58126.1	11																																																																																			-	NULL		0.448	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	protein_coding	OTTHUMT00000324112.1	C	NM_145117		20032211	1	no_errors	NM_182964.1	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	20075635	C	T	20075635	2	4	45	1	0	0	0	0	0	0	0	1	10184	581	21	2		2	NAV2	11	20075635	Silent	SNP	C	TCGA-AB-2849-03B-01W-0728-08		20075635	114930881	17	474											
MED21	9412	genome.wustl.edu	37	12	27179378	27179378	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr12:27179378T>C	ENST00000282892.3	+	2	98	c.68T>C	c.(67-69)aTt>aCt	p.I23T	MED21_ENST00000536503.1_Intron|MED21_ENST00000546323.1_Missense_Mutation_p.I23T	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	23					blastocyst development (GO:0001824)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)	DNA-directed RNA polymerase activity (GO:0003899)|transcription coactivator activity (GO:0003713)					Colorectal(261;0.0847)					TGTAATGCCATTGGAGTATTG	0.393																																						dbGAP											0			12											162	142	149					12																	27179378		2203	4300	6503	27070645	SO:0001583	missense	0			U46837	CCDS8711.1	12p12	2007-07-30	2007-07-30	2007-07-30		ENSG00000152944			11473	protein-coding gene	gene with protein product		603800	"SRB7 (suppressor of RNA polymerase B, yeast) homolog", "SRB7 suppressor of RNA polymerase B homolog (yeast)"	SURB7		8598913	Standard	NM_004264		Approved	SRB7	uc001rhp.2	Q13503		ENST00000282892.3:c.68T>C	12.37:g.27179378T>C	ENSP00000282892:p.Ile23Thr	59	0	0		9	47.06	8	27070645	112	32.12	53	B2R4I3|Q6IB05|Q92811	Missense_Mutation	SNP	NULL	p.I23T	ENST00000282892.3	37	c.68	CCDS8711.1	12	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142918	0.57044	.	.	ENSG00000152944	ENST00000546323;ENST00000282892	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.58163	0.2103	L	0.48362	1.52	0.80722	D	1	B	0.26445	0.149	B	0.29663	0.105	T	0.60156	-0.7318	9	0.59425	D	0.04	-4.7286	15.0592	0.71939	0.0:0.0:0.0:1.0	.	23	Q13503	MED21_HUMAN	T	23	.	ENSP00000282892:I23T	I	+	2	0	MED21	27070645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.191000	0.77763	2.186000	0.69663	0.477000	0.44152	ATT	-	NULL		0.393	MED21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED21	protein_coding	OTTHUMT00000403262.1	T	NM_004264		27070645	1	no_errors	NM_004264.3	genbank	human	provisional	54_36p	missense	SNP	1.000	C	C	27179378	T	C	27179378	3	2	45	1	0	0	0	0	1	0	0	0	9439	1493	52	3	74	3	MED21	12	27179378	Missense_Mutation	SNP	T	TCGA-AB-2849-03B-01W-0728-08		27179378	106672517	18	475											
MYF6	4618	genome.wustl.edu	37	12	81102640	81102640	+	Silent	SNP	G	G	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr12:81102640G>A	ENST00000228641.3	+	3	852	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	210					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GTATTGATTCGTCAGCCTCGA	0.542																																						dbGAP											0			12											176	153	161					12																	81102640		2203	4300	6503	79626771	SO:0001819	synonymous_variant	0				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"Basic helix-loop-helix proteins"	7566	protein-coding gene	gene with protein product	"muscle-specific regulatory factor 4"	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.630G>A	12.37:g.81102640G>A		95	0	0					79626771	52	44.09	41	B2R898|Q53X80|Q6FHI9	Silent	SNP	HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_Basic,HMMSmart_SM00520,superfamily_HLH helix-loop-helix DNA-binding domain	p.S210	ENST00000228641.3	37	c.630	CCDS9019.1	12																																																																																			-	NULL		0.542	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	protein_coding	OTTHUMT00000407756.1	G	NM_002469		79626771	1	no_errors	NM_002469.1	genbank	human	provisional	54_36p	silent	SNP	0.004	A	A	81102640	G	A	81102640	2	1	45	1	0	0	0	0	0	0	0	1	10028	1132	40	1		1	MYF6	12	81102640	Silent	SNP	G	TCGA-AB-2849-03B-01W-0728-08	53923262	81102640	52749255	19	476											
RAB15	376267	genome.wustl.edu	37	14	65417130	65417130	+	Silent	SNP	G	G	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr14:65417130G>A	ENST00000533601.2	-	5	664	c.327C>T	c.(325-327)taC>taT	p.Y109Y	RAB15_ENST00000267512.5_Missense_Mutation_p.T153M|RAB15_ENST00000436278.2_3'UTR|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron|RAB15_ENST00000426039.3_Silent_p.Y63Y			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	109					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CTTCTGGTGCGTACTAGGGAC	0.562																																						dbGAP											0			14											190	168	175					14																	65417130		2203	4300	6503	64486883	SO:0001819	synonymous_variant	0			BC014511	CCDS9768.1	14q23.2	2012-02-28	2012-02-28		ENSG00000139998	ENSG00000139998		"RAB, member RAS oncogene"	20150	protein-coding gene	gene with protein product						11697911	Standard	NM_198686		Approved		uc001xhz.2	P59190	OTTHUMG00000142810	ENST00000533601.2:c.327C>T	14.37:g.65417130G>A		69	0	0		21	30	9	64486883	29	40.82	20	G5EMR7|Q86TX7|Q8IW89	Missense_Mutation	SNP	PatternScan_SIGMA54_INTERACT_1,HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540	p.T153M	ENST00000533601.2	37	c.458		14	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041099	0.35989	.	.	ENSG00000139998	ENST00000267512	T	0.67171	-0.25	5.84	-9.89	0.00464	.	1.023860	0.07856	N	0.965462	T	0.44265	0.1285	N	0.03608	-0.345	0.80722	D	1	B	0.13145	0.007	B	0.11329	0.006	T	0.36720	-0.9736	10	0.87932	D	0	.	21.9789	0.99964	0.2525:0.0:0.7475:0.0	.	153	P59190-2	.	M	153	ENSP00000267512:T153M	ENSP00000267512:T153M	T	-	2	0	RAB15	64486883	0.121000	0.22262	0.509000	0.27700	0.556000	0.35491	-0.381000	0.07417	-1.934000	0.01051	-1.202000	0.01658	ACG	-	NULL		0.562	RAB15-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	RAB15	protein_coding	OTTHUMT00000390443.2	G	NM_198686		64486883	-1	no_errors	NM_198686.2	genbank	human	validated	54_36p	missense	SNP	0.997	A	A	65417130	G	A	65417130	2	1	45	1	0	0	0	0	0	0	0	1	12901	1145	40	1		1	RAB15	14	65417130	Silent	SNP	G	TCGA-AB-2849-03B-01W-0728-08		65417130	41932410	20	477											
DUOX1	53905	genome.wustl.edu	37	15	45440166	45440166	+	Silent	SNP	T	T	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr15:45440166T>A	ENST00000321429.4	+	21	3020	c.2613T>A	c.(2611-2613)atT>atA	p.I871I	DUOX1_ENST00000561166.1_Silent_p.I517I|DUOX1_ENST00000389037.3_Silent_p.I871I	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	871	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATGGCCTCATTTCCAAGGATG	0.552																																						dbGAP											0			15											149	140	143					15																	45440166		2198	4298	6496	43227458	SO:0001819	synonymous_variant	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"EF-hand domain containing"	3062	protein-coding gene	gene with protein product	"NADPH thyroid oxidase 1", "flavoprotein NADPH oxidase", "nicotinamide adenine dinucleotide phosphate oxidase"	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.2613T>A	15.37:g.45440166T>A		62	0	0		0	100	2	43227458	52	42.22	38	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Silent	SNP	HMMPfam_An_peroxidase,HMMSmart_SM00054,superfamily_Heme-dependent peroxidases,HMMPfam_FAD_binding_8,HMMPfam_NAD_binding_6,HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain	p.I871	ENST00000321429.4	37	c.2613	CCDS32221.1	15																																																																																			-	HMMSmart_SM00054,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand		0.552	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	protein_coding	OTTHUMT00000416251.1	T	NM_017434		43227458	1	no_errors	NM_017434.3	genbank	human	reviewed	54_36p	silent	SNP	0.894	A	A	45440166	T	A	45440166	2	1	45	1	0	0	0	0	0	0	0	1	4800	1829	64	5		5	DUOX1	15	45440166	Silent	SNP	T	TCGA-AB-2849-03B-01W-0728-08		45440166	57091226	21	478											
MEX3B	84206	genome.wustl.edu	37	15	82336007	82336007	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr15:82336007A>G	ENST00000329713.4	-	2	1639	c.1204T>C	c.(1204-1206)Tcg>Ccg	p.S402P	MEX3B_ENST00000558133.1_3'UTR|AC026956.1_ENST00000410589.1_RNA	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	402					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						gaagcagacgaagatgcagaa	0.662																																						dbGAP											0			15											65	70	68					15																	82336007		2197	4288	6485	80123062	SO:0001583	missense	0			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	25297	protein-coding gene	gene with protein product		611008	"ring finger and KH domain containing 3", "mex-3 homolog B (C. elegans)"	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.1204T>C	15.37:g.82336007A>G	ENSP00000329918:p.Ser402Pro	17	0	0		12	47.83	11	80123062	17	32	8	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	HMMSmart_SM00184,HMMSmart_SM00322,HMMPfam_KH_1,HMMPfam_zf-C3HC4,superfamily_Eukaryotic type KH-domain (KH-domain type I),superfamily_RING/U-box	p.S402P	ENST00000329713.4	37	c.1204	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	A	2.654	-0.281351	0.05642	.	.	ENSG00000183496	ENST00000329713	T	0.25085	1.82	4.57	4.57	0.56435	.	0.662303	0.12522	N	0.461582	T	0.25306	0.0615	L	0.29908	0.895	0.80722	D	1	D	0.53885	0.963	P	0.49421	0.61	T	0.01099	-1.1452	10	0.34782	T	0.22	-7.1605	9.228	0.37418	0.8385:0.0:0.0:0.1615	.	402	Q6ZN04	MEX3B_HUMAN	P	402	ENSP00000329918:S402P	ENSP00000329918:S402P	S	-	1	0	MEX3B	80123062	0.006000	0.16342	0.237000	0.24090	0.025000	0.11179	-0.008000	0.12788	1.920000	0.55613	0.379000	0.24179	TCG	-	NULL		0.662	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	protein_coding	OTTHUMT00000304000.1	A	XM_290645		80123062	-1	no_errors	NM_032246.3	genbank	human	provisional	54_36p	missense	SNP	0.078	G	G	82336007	A	G	82336007	3	3	45	1	0	0	0	0	1	0	0	0	9510	246	9	3	509	3	MEX3B	15	82336007	Missense_Mutation	SNP	A	TCGA-AB-2849-03B-01W-0728-08	36895841	82336007	20195385	22	479											
MUC16	94025	genome.wustl.edu	37	19	9088095	9088095	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr19:9088095G>T	ENST00000397910.4	-	1	3923	c.3720C>A	c.(3718-3720)agC>agA	p.S1240R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1240	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGTAGGTGCTGAGGGTTG	0.512																																						dbGAP											0			19											362	354	357					19																	9088095		2114	4243	6357	8949095	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.3720C>A	19.37:g.9088095G>T	ENSP00000381008:p.Ser1240Arg	135	0.74	1					8949095	188	39.94	125	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain	p.S1240R	ENST00000397910.4	37	c.3720	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.949	-0.217175	0.06101	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.38	0.129	0.14739	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	.	.	.	P	0.46020	0.871	B	0.40506	0.331	T	0.46857	-0.9161	8	0.87932	D	0	.	5.0979	0.14742	0.0:0.3805:0.6195:0.0	.	1240	B5ME49	.	R	1240	ENSP00000381008:S1240R	ENSP00000381008:S1240R	S	-	3	2	MUC16	8949095	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-1.027000	0.03592	0.087000	0.17167	0.305000	0.20034	AGC	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690		8949095	-1	no_errors	NM_024690.2	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	9088095	G	T	9088095	3	4	45	1	0	0	0	0	1	0	0	0	9973	1310	46	4	40139	4	MUC16	19	9088095	Missense_Mutation	SNP	G	TCGA-AB-2849-03B-01W-0728-08		9088095	50040888	23	480											
RBM9	23543	genome.wustl.edu	37	22	36334905	36334905	+	Missense_Mutation	SNP	C	C	T	rs562357805		TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr22:36334905C>T	ENST00000438146.2	-	2	226	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	RBFOX2_ENST00000359369.4_5'UTR	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	16					dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(4)|large_intestine(7)|lung(7)	18						CTGGCTGTCCCGCGCTGGGAA	0.413													C|||	1	0.000199681	0	0	5008	,	,		17203	0		0	False		,,,				2504	0.001					dbGAP											0			22											87	88	88					22																	36334905		1932	4159	6091	34664851	SO:0001583	missense	0			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"RNA binding motif (RRM) containing"	9906	protein-coding gene	gene with protein product	"hexaribonucleotide binding protein 2"	612149	"RNA binding motif protein 9"	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.227G>A	22.37:g.36334905C>T	ENSP00000413035:p.Arg76Gln	79	0	0		3	40	2	34664851	86	15.69	16	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928	p.R76Q	ENST00000438146.2	37	c.227	CCDS43013.1	22	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073778	0.55646	.	.	ENSG00000100320	ENST00000338644;ENST00000438146;ENST00000408983	T;T	0.47869	0.83;1.8	5.22	5.22	0.72569	.	1.074000	0.07270	N	0.868992	T	0.50888	0.1642	N	0.08118	0	0.29756	N	0.835942	D;D	0.69078	0.997;0.997	D;D	0.66847	0.947;0.947	T	0.54430	-0.8295	10	0.44086	T	0.13	.	14.1472	0.65357	0.0:1.0:0.0:0.0	.	76;76	O43251-6;O43251-8	.;.	Q	16;76;28	ENSP00000413035:R76Q;ENSP00000386177:R28Q	ENSP00000342831:R16Q	R	-	2	0	RBFOX2	34664851	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.801000	0.55545	2.717000	0.92951	0.563000	0.77884	CGG	-	NULL		0.413	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	RBM9	protein_coding	OTTHUMT00000319299.3	C			34664851	-1	no_errors	NM_001082578.2	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	36334905	C	T	36334905	3	4	45	1	0	0	0	0	1	0	0	0	13147	652	23	1	1221	1	RBM9	22	36334905	Missense_Mutation	SNP	C	TCGA-AB-2849-03B-01W-0728-08		36334905	14969661	24	481											
MICALL1	85377	genome.wustl.edu	37	22	38323713	38323713	+	Silent	SNP	C	C	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chr22:38323713C>A	ENST00000215957.6	+	9	1887	c.1761C>A	c.(1759-1761)ggC>ggA	p.G587G	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	587	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGACCAGGGGCAGCTCAGGTC	0.642																																						dbGAP											0			22											80	86	84					22																	38323713		2203	4300	6503	36653659	SO:0001819	synonymous_variant	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"molecule interacting with Rab13"					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1761C>A	22.37:g.38323713C>A		33	0	0		13	18.75	3	36653659	13	27.78	5	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Silent	SNP	HMMPfam_CH,HMMSmart_CH,HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,superfamily_Calponin-homology,superfamily_SSF57716	p.G587	ENST00000215957.6	37	c.1761	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	C	0.927	-0.713954	0.03206	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.35	3.17	0.36434	.	.	.	.	.	T	0.55433	0.1920	.	.	.	0.54753	D	0.99998	.	.	.	.	.	.	T	0.51180	-0.8738	4	.	.	.	.	6.6392	0.22899	0.1448:0.7081:0.0:0.1472	.	.	.	.	K	165	.	.	Q	+	1	0	MICALL1	36653659	0.913000	0.31002	0.304000	0.25085	0.098000	0.18820	0.985000	0.29578	1.263000	0.44181	0.555000	0.69702	CAG	-	NULL		0.642	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	protein_coding	OTTHUMT00000319545.4	C	NM_033386		36653659	1	no_errors	NM_033386.2	genbank	human	validated	54_36p	silent	SNP	0.758	A	A	38323713	C	A	38323713	2	1	45	1	0	0	0	0	0	0	0	1	9573	697	25	4		4	MICALL1	22	38323713	Silent	SNP	C	TCGA-AB-2849-03B-01W-0728-08	1988808	38323713	12980853	25	482											
GPR112	139378	genome.wustl.edu	37	X	135427148	135427148	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2849-03B-01W-0728-08	TCGA-AB-2849-11B-01W-0729-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0d3e1576-f0cd-4066-b6af-e3f96cac6d25	b983feb5-f7d5-4890-a57a-0ad7f94bacc2	g.chrX:135427148T>A	ENST00000394143.1	+	6	1574	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	GPR112_ENST00000412101.1_Missense_Mutation_p.L223H|GPR112_ENST00000287534.4_Missense_Mutation_p.L365H|GPR112_ENST00000394141.1_Missense_Mutation_p.L223H|GPR112_ENST00000370652.1_Missense_Mutation_p.L428H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	428					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACTGGGGCACTCCCTATCTCC	0.428																																						dbGAP											0			X											86	81	83					X																	135427148		2203	4300	6503	135254814	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1283T>A	X.37:g.135427148T>A	ENSP00000377699:p.Leu428His	57	3.33	2					135254814	37	79.12	144	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_ConA_like_lec_gl,PatternScan_G_PROTEIN_RECEP_F2_2	p.L428H	ENST00000394143.1	37	c.1283	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	t	8.007	0.756608	0.15846	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.48836	0.84;0.84;0.8;0.9;0.8	3.78	1.42	0.22433	.	.	.	.	.	T	0.50103	0.1596	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;P	0.76071	0.987;0.957;0.84	T	0.30446	-0.9978	9	0.87932	D	0	.	4.366	0.11225	0.0:0.3037:0.0:0.6963	.	365;223;428	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	H	428;428;223;365;223	ENSP00000377699:L428H;ENSP00000359686:L428H;ENSP00000416526:L223H;ENSP00000287534:L365H;ENSP00000377697:L223H	ENSP00000287534:L365H	L	+	2	0	GPR112	135254814	0.000000	0.05858	0.026000	0.17262	0.020000	0.10135	0.039000	0.13884	0.448000	0.26722	0.336000	0.21669	CTC	-	NULL		0.428	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	T			135254814	1	no_errors	NM_153834.3	genbank	human	validated	54_36p	missense	SNP	0.011	A	A	135427148	T	A	135427148	3	1	45	1	0	0	0	0	1	0	0	0	6629	1551	54	5	1293	5	GPR112	23	135427148	Missense_Mutation	SNP	T	TCGA-AB-2849-03B-01W-0728-08		135427148	19843412	26	483											
NOTCH1	4851	genome.wustl.edu	37	9	139395132	139395132	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2850-03B-01W-0728-08	TCGA-AB-2850-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae	7823e450-4039-472e-8e4a-27d849a4350b	g.chr9:139395132C>T	ENST00000277541.6	-	31	5881	c.5806G>A	c.(5806-5808)Gcc>Acc	p.A1936T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1936					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGTAGCGGGCGGCCAGGTGC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)																												dbGAP		Dom	yes		9	9q34.3	4851	"Notch homolog 1, translocation-associated (Drosophila) (TAN1)"		L	0			9											85	103	97					9																	139395132		2192	4293	6485	138514953	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"Ankyrin repeat domain containing"	7881	protein-coding gene	gene with protein product		190198	"Notch (Drosophila) homolog 1 (translocation-associated)", "Notch homolog 1, translocation-associated (Drosophila)"	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5806G>A	9.37:g.139395132C>T	ENSP00000277541:p.Ala1936Thr	282	0.7	2					138514953	133	46.22	116	Q59ED8|Q5SXM3	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Notch,HMMSmart_NL,superfamily_Notch_region,HMMSmart_EGF_CA,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_NOD,HMMPfam_NODP,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196	p.A1936T	ENST00000277541.6	37	c.5806	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	35	5.566261	0.96540	.	.	ENSG00000148400	ENST00000277541	T	0.71817	-0.6	4.68	4.68	0.58851	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.75087	0.3802	L	0.48986	1.54	0.80722	D	1	D	0.67145	0.996	P	0.52823	0.71	T	0.79262	-0.1876	10	0.87932	D	0	.	16.9985	0.86375	0.0:1.0:0.0:0.0	.	1936	P46531	NOTC1_HUMAN	T	1936	ENSP00000277541:A1936T	ENSP00000277541:A1936T	A	-	1	0	NOTCH1	138514953	1.000000	0.71417	0.988000	0.46212	0.959000	0.62525	7.581000	0.82535	2.322000	0.78497	0.555000	0.69702	GCC	-	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	C	NM_017617		138514953	-1	no_errors	ENST00000277541	ensembl	human	known	58_37c	missense	SNP	1.000	T	T	139395132	C	T	139395132	3	4	46	1	0	0	0	0	1	0	0	0	10547	768	27	1	1877	1	NOTCH1	9	139395132	Missense_Mutation	SNP	C	TCGA-AB-2850-03B-01W-0728-08		139395132	1818299	1	484											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2850-03B-01W-0728-08	TCGA-AB-2850-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae	7823e450-4039-472e-8e4a-27d849a4350b	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	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	103	103					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	107	0	0					88432938	73	38.14	45	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	ENST00000330062	ensembl	human	known	58_37c	missense	SNP	1.000	T	T	90631934	C	T	90631934	3	4	46	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2850-03B-01W-0728-08		90631934	11899458	2	485											
KIF2B	84643	genome.wustl.edu	37	17	51901323	51901323	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2850-03B-01W-0728-08	TCGA-AB-2850-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae	7823e450-4039-472e-8e4a-27d849a4350b	g.chr17:51901323C>T	ENST00000268919.4	+	1	1085	c.929C>T	c.(928-930)aCg>aTg	p.T310M		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	310	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGTGGGAAGACGTACACCATG	0.552																																						dbGAP											0			17											100	93	95					17																	51901323		2203	4300	6503	49256322	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"Kinesins"	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.929C>T	17.37:g.51901323C>T	ENSP00000268919:p.Thr310Met	57	0	0					49256322	32	47.54	29	Q96MA2|Q9BXG6	Missense_Mutation	SNP	HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T310M	ENST00000268919.4	37	c.929	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	C	19.24	3.790093	0.70337	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.38887	1.11	5.52	5.52	0.82312	Kinesin, motor domain (5);	0.000000	0.53938	D	0.000059	T	0.82144	0.4973	H	0.99867	4.865	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.90423	0.4418	10	0.87932	D	0	.	18.3543	0.90352	0.0:1.0:0.0:0.0	.	310	Q8N4N8	KIF2B_HUMAN	M	310;198	ENSP00000268919:T310M	ENSP00000268919:T310M	T	+	2	0	KIF2B	49256322	1.000000	0.71417	0.973000	0.42090	0.721000	0.41392	6.040000	0.70980	2.739000	0.93911	0.655000	0.94253	ACG	-	HMMPfam_Kinesin,HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	protein_coding	OTTHUMT00000438854.1	C	NM_032559		49256322	1	no_errors	ENST00000268919	ensembl	human	known	58_37c	missense	SNP	1.000	T	T	51901323	C	T	51901323	3	4	46	1	0	0	0	0	1	0	0	0	8298	536	19	1	931	1	KIF2B	17	51901323	Missense_Mutation	SNP	C	TCGA-AB-2850-03B-01W-0728-08		51901323	29293887	3	486											
SFRS2	6427	genome.wustl.edu	37	17	74732936	74732959	+	In_Frame_Del	DEL	GGCGGCTGTGGTGTGAGTCCGGGG	GGCGGCTGTGGTGTGAGTCCGGGG	-			TCGA-AB-2850-03B-01W-0728-08	TCGA-AB-2850-11B-01W-0729-08	GGCGGCTGTGGTGTGAGTCCGGGG	GGCGGCTGTGGTGTGAGTCCGGGG	GGCGGCTGTGGTGTGAGTCCGGGG	-	GGCGGCTGTGGTGTGAGTCCGGGG	GGCGGCTGTGGTGTGAGTCCGGGG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae	7823e450-4039-472e-8e4a-27d849a4350b	g.chr17:74732936_74732959delGGCGGCTGTGGTGTGAGTCCGGGG	ENST00000392485.2	-	1	456_479	c.284_307delCCCCGGACTCACACCACAGCCGCC	c.(283-309)cccccggactcacaccacagccgccgg>cgg	p.PPDSHHSR95del	MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000590514.1_5'Flank|SRSF2_ENST00000359995.5_In_Frame_Del_p.PPDSHHSR95del|SRSF2_ENST00000508921.3_In_Frame_Del_p.PPDSHHSR95del	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	95					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.P95H(75)|p.P95L(48)|p.P95R(29)|p.P95_R102del(21)|p.?(6)|p.P95?(4)|p.P95_D97del(2)		haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGCGGTCCCCGGCGGCTGTGGTGTGAGTCCGGGGGGCGGCCGTA	0.75			Mis		"MDS, CLL"																																	dbGAP		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	185	Substitution - Missense(156)|Deletion - In frame(23)|Unknown(6)	haematopoietic_and_lymphoid_tissue(185)	17																																								72244554	SO:0001651	inframe_deletion	0			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10783	protein-coding gene	gene with protein product	"SR splicing factor 2"	600813	"splicing factor, arginine/serine-rich 2"	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.284_307delCCCCGGACTCACACCACAGCCGCC	17.37:g.74732936_74732959delGGCGGCTGTGGTGTGAGTCCGGGG	ENSP00000376276:p.Pro95_Arg102del								72244531				B3KWD5|B4DN89|H0YG49	In_Frame_Del	DEL	HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,superfamily_RNA-binding domain RBD	p.PPDSHHSR95in_frame_del	ENST00000392485.2	37	c.307_284	CCDS11749.1	17																																																																																			-	superfamily_RNA-binding domain RBD		0.75	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SFRS2	protein_coding	OTTHUMT00000437489.1	GGCGGCTGTGGTGTGAGTCCGGGG	NM_003016		72244554	-1	no_errors	ENST00000358156	ensembl	human	known	58_37c	in_frame_del	DEL	0.998:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.217:0.326:0.310:0.137:0.989	-	-	74732959	GGCGGCTGTGGTGTGAGTCCGGGG	-	74732936	7	5	46	1	0	1	0	1	0	0	0	0	14175	1115	39	0	366	0	SFRS2	17	74732936	In_Frame_Del	DEL	GGCGGCTGTGGTGTGAGTCCGGGG	TCGA-AB-2850-03B-01W-0728-08	22831613	74732936	6462274	4	487											
RUNX1	861	genome.wustl.edu	37	21	36164595	36164617	+	Frame_Shift_Del	DEL	CGCGGCGGCGAGCGCTCGCCGCC	CGCGGCGGCGAGCGCTCGCCGCC	-	rs1055307|rs544247912		TCGA-AB-2850-03B-01W-0728-08	TCGA-AB-2850-11B-01W-0729-08	CGCGGCGGCGAGCGCTCGCCGCC	CGCGGCGGCGAGCGCTCGCCGCC	CGCGGCGGCGAGCGCTCGCCGCC	-	CGCGGCGGCGAGCGCTCGCCGCC	CGCGGCGGCGAGCGCTCGCCGCC	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae	7823e450-4039-472e-8e4a-27d849a4350b	g.chr21:36164595_36164617delCGCGGCGGCGAGCGCTCGCCGCC	ENST00000344691.4	-	6	2754_2776	c.1177_1199delGGCGGCGAGCGCTCGCCGCCGCG	c.(1177-1200)ggcggcgagcgctcgccgccgcgcfs	p.GGERSPPR393fs	RUNX1_ENST00000325074.5_Frame_Shift_Del_p.GGERSPPR408fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.GGERSPPR420fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.GGERSPPR420fs|RUNX1_ENST00000399240.1_Frame_Shift_Del_p.GGERSPPR329fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	393	Interaction with KAT6B. {ECO:0000250}.|Pro/Ser/Thr-rich.				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.P425L(1)|p.E422fs*63(1)|p.P425Q(1)|p.V419fs*60(1)		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						CGGCAGGATGCGCGGCGGCGAGCGCTCGCCGCCCACCATGGAG	0.722			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	4	Substitution - Missense(2)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(4)	21																																								35086487	SO:0001589	frameshift_variant	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.1177_1199delGGCGGCGAGCGCTCGCCGCCGCG	21.37:g.36164595_36164617delCGCGGCGGCGAGCGCTCGCCGCC	ENSP00000340690:p.Gly393fs								35086465				A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Del	DEL	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.G420fs	ENST00000344691.4	37	c.1280_1258	CCDS42922.1	21																																																																																			-	HMMPfam_RunxI		0.722	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	CGCGGCGGCGAGCGCTCGCCGCC			35086487	-1	no_errors	ENST00000300305	ensembl	human	known	58_37c	frame_shift_del	DEL	1.000:1.000:0.914:1.000:0.997:0.962:1.000:1.000:0.958:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:0.950:1.000:1.000	-	-	36164617	CGCGGCGGCGAGCGCTCGCCGCC	-	36164595	7	5	46	1	0	1	0	1	0	0	0	0	13746	768	27	0	166	0	RUNX1	21	36164595	Frame_Shift_Del	DEL	CGCGGCGGCGAGCGCTCGCCGCC	TCGA-AB-2850-03B-01W-0728-08		36164595	11965300	5	488											
STAG2	10735	genome.wustl.edu	37	X	123224615	123224615	+	Splice_Site	SNP	G	G	A			TCGA-AB-2850-03B-01W-0728-08	TCGA-AB-2850-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8ec36ae-f2fc-4b21-8ae9-facaa091e1ae	7823e450-4039-472e-8e4a-27d849a4350b	g.chrX:123224615G>A	ENST00000371160.1	+	31	3757		c.e31+1		STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371144.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTGATTATAAGTAAGTACATT	0.338																																						dbGAP											0			X											112	94	100					X																	123224615		2203	4300	6503	123052296	SO:0001630	splice_region_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3467+1G>A	X.37:g.123224615G>A		124	1.59	2					123052296	79	47.37	72	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	-	e29+1	ENST00000371160.1	37	c.3467+1	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652609	0.67472	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9589	0.89078	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123052296	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.979000	0.93455	2.174000	0.68829	0.544000	0.68410	.	-	-		0.338	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	G	NM_006603	Intron	123052296	1	no_errors	ENST00000218089	ensembl	human	known	58_37c	splice_site	SNP	1.000	A	A	123224615	G	A	123224615	5	1	46	1	0	0	0	0	0	0	1	0	15242	1043	36	2	3582	2	STAG2	23	123224615	Splice_Site	SNP	G	TCGA-AB-2850-03B-01W-0728-08		123224615	32045945	6	489											
DNMT3A	1788	genome.wustl.edu	37	2	25467030	25467030	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2851-03B-01W-0728-08	TCGA-AB-2851-11B-01W-0729-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c8aef61-92b6-4a35-9a7f-89f5acf8265e	3d4d70a0-64f8-49a8-bc2d-d34a239168b5	g.chr2:25467030delC	ENST00000264709.3	-	15	2182	c.1845delG	c.(1843-1845)cagfs	p.Q615fs	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.Q426fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.Q615fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.Q392fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	615					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAAATTCCTGGTCGTGGT	0.637			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											32	37	36					2																	25467030		2203	4300	6503	25320534	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1845delG	2.37:g.25467030delC	ENSP00000264709:p.Gln615fs	10	0	0		8	0	0	25320534	17	0	0	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.E616fs	ENST00000264709.3	37	c.1845	CCDS33157.1	2																																																																																			-	NULL		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25320534	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	25467030	C	-	25467030	7	5	47	1	0	1	0	1	0	0	0	0	4676	680	24	0	929	0	DNMT3A	2	25467030	Frame_Shift_Del	DEL	C	TCGA-AB-2851-03B-01W-0728-08		25467030	217732343	1	490											
BUB1	699	genome.wustl.edu	37	2	111419303	111419303	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2851-03B-01W-0728-08	TCGA-AB-2851-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c8aef61-92b6-4a35-9a7f-89f5acf8265e	3d4d70a0-64f8-49a8-bc2d-d34a239168b5	g.chr2:111419303G>A	ENST00000302759.6	-	10	1191	c.1073C>T	c.(1072-1074)gCa>gTa	p.A358V	BUB1_ENST00000409311.1_Missense_Mutation_p.A358V|BUB1_ENST00000535254.1_Missense_Mutation_p.A338V	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	358					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		AACAGGAGGTGCCTCTCTTGG	0.532																																						dbGAP											0			2											152	144	147					2																	111419303		2203	4300	6503	111135776	SO:0001583	missense	0			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"budding uninhibited by benzimidazoles 1 (yeast homolog)", "budding uninhibited by benzimidazoles 1 homolog (yeast)"	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1073C>T	2.37:g.111419303G>A	ENSP00000302530:p.Ala358Val	219	5.96	14		1	50	1	111135776	85	35.56	48	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Mad3_BUB1_I,HMMSmart_SM00777,PatternScan_PROTEIN_KINASE_ATP	p.A358V	ENST00000302759.6	37	c.1073	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	5.556	0.287467	0.10513	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.32272	2.2;1.46;2.46	4.98	-0.674	0.11369	.	0.970845	0.08552	N	0.928805	T	0.23611	0.0571	L	0.50333	1.59	0.09310	N	1	B;B;B	0.13594	0.004;0.006;0.008	B;B;B	0.12837	0.007;0.003;0.008	T	0.31081	-0.9956	10	0.27082	T	0.32	-0.8445	4.6343	0.12516	0.1823:0.0:0.274:0.5437	.	338;358;358	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	V	338;358;358;358	ENSP00000441013:A338V;ENSP00000386701:A358V;ENSP00000302530:A358V	ENSP00000302530:A358V	A	-	2	0	BUB1	111135776	0.000000	0.05858	0.000000	0.03702	0.274000	0.26718	0.077000	0.14738	-0.023000	0.13963	0.555000	0.69702	GCA	-	NULL		0.532	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	protein_coding	OTTHUMT00000331925.1	G	NM_004336		111135776	-1	no_errors	NM_004336.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	A	A	111419303	G	A	111419303	3	1	47	1	0	0	0	0	1	0	0	0	1570	1319	46	2	2248	2	BUB1	2	111419303	Missense_Mutation	SNP	G	TCGA-AB-2851-03B-01W-0728-08	85952273	111419303	131780070	2	491											
TPRG1	285386	genome.wustl.edu	37	3	189038554	189038554	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2851-03B-01W-0728-08	TCGA-AB-2851-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c8aef61-92b6-4a35-9a7f-89f5acf8265e	3d4d70a0-64f8-49a8-bc2d-d34a239168b5	g.chr3:189038554T>C	ENST00000345063.3	+	6	940	c.773T>C	c.(772-774)aTt>aCt	p.I258T	TPRG1_ENST00000433971.1_Missense_Mutation_p.I258T	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	258						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATGTCATTCATTGGAAACCGC	0.423																																						dbGAP											0			3											109	97	101					3																	189038554		2203	4300	6503	190521248	SO:0001583	missense	0			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"family with sequence similarity 79, member B"	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.773T>C	3.37:g.189038554T>C	ENSP00000341031:p.Ile258Thr	133	6.99	10		1	0	0	190521248	109	48.83	104		Missense_Mutation	SNP	NULL	p.I258T	ENST00000345063.3	37	c.773	CCDS3292.1	3	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331719	0.81690	.	.	ENSG00000188001	ENST00000433971;ENST00000345063	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	M	0.75615	2.305	0.58432	D	0.999999	D	0.71674	0.998	D	0.76071	0.987	T	0.78881	-0.2029	8	.	.	.	-21.1881	13.9016	0.63806	0.0:0.0:0.0:1.0	.	258	Q6ZUI0	TPRG1_HUMAN	T	258	.	.	I	+	2	0	TPRG1	190521248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.731000	0.68554	2.173000	0.68751	0.460000	0.39030	ATT	-	NULL		0.423	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRG1	protein_coding	OTTHUMT00000343931.1	T	NM_198485		190521248	1	no_errors	NM_198485.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	189038554	T	C	189038554	3	2	47	1	0	0	0	0	1	0	0	0	16415	1493	52	3	791	3	TPRG1	3	189038554	Missense_Mutation	SNP	T	TCGA-AB-2851-03B-01W-0728-08		189038554	8983876	3	492											
SULF1	23213	genome.wustl.edu	37	8	70536212	70536212	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2851-03B-01W-0728-08	TCGA-AB-2851-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c8aef61-92b6-4a35-9a7f-89f5acf8265e	3d4d70a0-64f8-49a8-bc2d-d34a239168b5	g.chr8:70536212C>T	ENST00000260128.4	+	15	2347	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C	SULF1_ENST00000402687.4_Missense_Mutation_p.R544C|SULF1_ENST00000419716.3_Missense_Mutation_p.R544C|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.R544C	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	544					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCGGCAGACACGTTCCTTGTC	0.403																																						dbGAP											0			8											109	104	106					8																	70536212		2203	4300	6503	70698766	SO:0001583	missense	0			AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1630C>T	8.37:g.70536212C>T	ENSP00000260128:p.Arg544Cys	47	4.08	2					70698766	57	40	38	Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	HMMPfam_Sulfatase,PatternScan_SULFATASE_2,PatternScan_SULFATASE_1,superfamily_Alkaline_phosphatase_core	p.R544C	ENST00000260128.4	37	c.1630	CCDS6204.1	8	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384369	0.82792	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.99129	-5.46;-5.46;-5.46;-5.46	5.78	5.78	0.91487	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99351	0.9772	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99453	1.0941	10	0.87932	D	0	.	20.0119	0.97458	0.0:1.0:0.0:0.0	.	544	Q8IWU6	SULF1_HUMAN	C	544	ENSP00000403040:R544C;ENSP00000260128:R544C;ENSP00000385704:R544C;ENSP00000390315:R544C	ENSP00000260128:R544C	R	+	1	0	SULF1	70698766	0.989000	0.36119	0.860000	0.33809	0.849000	0.48306	2.838000	0.48199	2.706000	0.92434	0.655000	0.94253	CGT	-	superfamily_Alkaline_phosphatase_core		0.403	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULF1	protein_coding	OTTHUMT00000378885.2	C	NM_015170		70698766	1	no_errors	NM_015170.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	70536212	C	T	70536212	3	4	47	1	0	0	0	0	1	0	0	0	15369	536	19	1	1672	1	SULF1	8	70536212	Missense_Mutation	SNP	C	TCGA-AB-2851-03B-01W-0728-08		70536212	75827810	4	493											
SMC3	9126	genome.wustl.edu	37	10	112342356	112342356	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AB-2851-03B-01W-0728-08	TCGA-AB-2851-11B-01W-0729-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c8aef61-92b6-4a35-9a7f-89f5acf8265e	3d4d70a0-64f8-49a8-bc2d-d34a239168b5	g.chr10:112342356A>T	ENST00000361804.4	+	10	886	c.760A>T	c.(760-762)Aga>Tga	p.R254*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	254					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGAAAAATCCAGACAATTAAG	0.318																																						dbGAP											0			10											73	74	74					10																	112342356		2203	4300	6503	112332346	SO:0001587	stop_gained	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.760A>T	10.37:g.112342356A>T	ENSP00000354720:p.Arg254*	49	9.26	5		39	9.3	4	112332346	63	39.42	41	A8K156|O60464|Q5T482	Nonsense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain	p.R254*	ENST00000361804.4	37	c.760	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	A	37	6.312410	0.97467	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	11.5797	0.50883	0.851:0.149:0.0:0.0	.	.	.	.	X	254	.	ENSP00000354720:R254X	R	+	1	2	SMC3	112332346	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.605000	0.67634	2.141000	0.66446	0.533000	0.62120	AGA	-	HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.318	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	A	NM_005445		112332346	1	no_errors	NM_005445.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	112342356	A	T	112342356	4	4	47	1	0	0	0	0	0	1	0	0	14784	180	7	5	798	5	SMC3	10	112342356	Nonsense_Mutation	SNP	A	TCGA-AB-2851-03B-01W-0728-08		112342356	23192391	5	494											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2851-03B-01W-0728-08	TCGA-AB-2851-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c8aef61-92b6-4a35-9a7f-89f5acf8265e	3d4d70a0-64f8-49a8-bc2d-d34a239168b5	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	69	12.66	10		184	48.75	175	27490642	21	36.36	12	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	47	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2851-03B-01W-0728-08		28592642	86577236	6	495											
RYR1	6261	genome.wustl.edu	37	19	39039015	39039015	+	Silent	SNP	C	C	T			TCGA-AB-2851-03B-01W-0728-08	TCGA-AB-2851-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1c8aef61-92b6-4a35-9a7f-89f5acf8265e	3d4d70a0-64f8-49a8-bc2d-d34a239168b5	g.chr19:39039015C>T	ENST00000359596.3	+	89	12237	c.12237C>T	c.(12235-12237)taC>taT	p.Y4079Y	RYR1_ENST00000360985.3_Silent_p.Y4074Y|RYR1_ENST00000355481.4_Silent_p.Y4074Y			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4079					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TCCAGGACTACGTAACGGATC	0.552																																						dbGAP											0			19											162	131	141					19																	39039015		2203	4300	6503	43730855	SO:0001819	synonymous_variant	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.12237C>T	19.37:g.39039015C>T		177	7.81	15					43730855	29	46.3	25	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand	p.Y4079	ENST00000359596.3	37	c.12237	CCDS33011.1	19																																																																																			-	superfamily_EF-hand		0.552	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	C			43730855	1	no_errors	NM_000540.2	genbank	human	reviewed	54_36p	silent	SNP	0.998	T	T	39039015	C	T	39039015	2	4	47	1	0	0	0	0	0	0	0	1	13768	547	19	1		1	RYR1	19	39039015	Silent	SNP	C	TCGA-AB-2851-03B-01W-0728-08		39039015	20089968	7	496											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	98	6.67	7		34	53.42	39	25310746	62	41.12	44	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	48	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2853-03D-01W-0755-09		25457242	217742131	1	497											
KLHL5	51088	genome.wustl.edu	37	4	39114766	39114766	+	Silent	SNP	G	G	A			TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr4:39114766G>A	ENST00000504108.1	+	9	2236	c.1953G>A	c.(1951-1953)acG>acA	p.T651T	KLHL5_ENST00000508137.2_Silent_p.T464T|KLHL5_ENST00000359687.2_Silent_p.T651T|RP11-360F5.1_ENST00000509449.1_RNA|KLHL5_ENST00000381930.3_Silent_p.T651T|KLHL5_ENST00000261426.5_Silent_p.T590T|KLHL5_ENST00000261425.3_Silent_p.T605T	NM_015990.4	NP_057074.3	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	651						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TAGGAGTGACGACCTGGAATG	0.473																																						dbGAP											0			4											135	119	124					4																	39114766		2203	4300	6503	38791161	SO:0001819	synonymous_variant	0			AF272976	CCDS3449.1, CCDS33974.1, CCDS33975.1, CCDS54756.1	4p15.1	2013-01-30	2013-01-30		ENSG00000109790	ENSG00000109790		"Kelch-like", "BTB/POZ domain containing"	6356	protein-coding gene	gene with protein product		608064	"kelch (Drosophila)-like 5", "kelch-like 5 (Drosophila)"			11590829, 14672410	Standard	NM_001007075		Approved		uc003gtp.3	Q96PQ7	OTTHUMG00000097819	ENST00000504108.1:c.1953G>A	4.37:g.39114766G>A		66	7.04	5		17	45.16	14	38791161	51	32	24	A8K170|B7WP68|E9PCF4|F8WAE7|G3XA92|Q6Y881|Q86XW0|Q9NUK3|Q9NV27|Q9NVA9|Q9Y2X2	Silent	SNP	HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB	p.T651	ENST00000504108.1	37	c.1953	CCDS33974.1	4	.	.	.	.	.	.	.	.	.	.	G	5.160	0.215155	0.09810	.	.	ENSG00000109790	ENST00000515612	.	.	.	5.67	-11.3	0.00108	.	.	.	.	.	T	0.31765	0.0807	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43475	-0.9389	4	.	.	.	.	1.4846	0.02444	0.2307:0.3268:0.2438:0.1986	.	.	.	.	N	163	.	.	D	+	1	0	KLHL5	38791161	0.000000	0.05858	0.016000	0.15963	0.739000	0.42172	-3.373000	0.00493	-3.234000	0.00208	-1.099000	0.02127	GAC	-	HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain		0.473	KLHL5-006	KNOWN	basic|CCDS	protein_coding	KLHL5	protein_coding	OTTHUMT00000360604.1	G			38791161	1	no_errors	NM_015990.1	genbank	human	validated	54_36p	silent	SNP	0.771	A	A	39114766	G	A	39114766	2	1	48	1	0	0	0	0	0	0	0	1	8392	1045	37	1		1	KLHL5	4	39114766	Silent	SNP	G	TCGA-AB-2853-03D-01W-0755-09		39114766	152039510	2	498											
ANK2	287	genome.wustl.edu	37	4	114254323	114254323	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr4:114254323C>A	ENST00000357077.4	+	29	3391	c.3338C>A	c.(3337-3339)aCt>aAt	p.T1113N	ANK2_ENST00000394537.3_Missense_Mutation_p.T1113N|ANK2_ENST00000509550.1_Missense_Mutation_p.T289N|ANK2_ENST00000506722.1_Missense_Mutation_p.T1104N|ANK2_ENST00000264366.6_Missense_Mutation_p.T1080N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1113	Interaction with SPTBN1.|ZU5 1. {ECO:0000255|PROSITE- ProRule:PRU00485}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.T1113N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGTGACTACACTGAAGATGAA	0.433																																						dbGAP											1	Substitution - Missense(1)	lung(1)	4											155	148	150					4																	114254323		2203	4300	6503	114473772	SO:0001583	missense	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.3338C>A	4.37:g.114254323C>A	ENSP00000349588:p.Thr1113Asn	133	6.99	10					114473772	116	43.48	90	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU	p.T1113N	ENST00000357077.4	37	c.3338	CCDS3702.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	2.536|2.536	-0.307408|-0.307408	0.05458|0.05458	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000503271;ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	.|T;T;T;T;T;T;T;T	.|0.76060	.|-0.11;-0.04;-0.22;-0.18;-0.21;-0.34;-0.34;-0.99	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|0.000000	.|0.52532	.|D	.|0.000064	T|T	0.81650|0.81650	0.4867|0.4867	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|P;D;P;B;P;P;P	.|0.89917	.|0.818;1.0;0.605;0.215;0.845;0.708;0.908	.|B;D;B;B;P;B;D	.|0.85130	.|0.316;0.997;0.194;0.219;0.755;0.425;0.922	T|T	0.79533|0.79533	-0.1764|-0.1764	5|10	.|0.33940	.|T	.|0.23	.|.	18.9343|18.9343	0.92579|0.92579	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|289;1080;125;1113;1113;1104;1104	.|E9PCH6;Q01484;Q7Z344;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.|.;ANK2_HUMAN;.;.;.;.;.	Q|N	125|1092;1026;1104;159;1128;1113;1113;1080;1104;289	.|ENSP00000423799:T1092N;ENSP00000421011:T1026N;ENSP00000421067:T1104N;ENSP00000424722:T1128N;ENSP00000378044:T1113N;ENSP00000349588:T1113N;ENSP00000264366:T1080N;ENSP00000426944:T289N	.|ENSP00000264366:T1080N	H|T	+|+	3|2	2|0	ANK2|ANK2	114473772|114473772	1.000000|1.000000	0.71417|0.71417	0.853000|0.853000	0.33588|0.33588	0.198000|0.198000	0.23893|0.23893	5.983000|5.983000	0.70540|0.70540	2.536000|2.536000	0.85505|0.85505	0.655000|0.655000	0.94253|0.94253	CAC|ACT	-	NULL		0.433	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114473772	1	no_errors	NM_001148.1	genbank	human	reviewed	54_36p	missense	SNP	0.998	A	A	114254323	C	A	114254323	3	1	48	1	0	0	0	0	1	0	0	0	621	565	20	4	3517	4	ANK2	4	114254323	Missense_Mutation	SNP	C	TCGA-AB-2853-03D-01W-0755-09	75139557	114254323	76899953	3	499											
SLCO6A1	133482	genome.wustl.edu	37	5	101834477	101834477	+	Silent	SNP	G	G	A			TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr5:101834477G>A	ENST00000506729.1	-	1	243	c.72C>T	c.(70-72)gcC>gcT	p.A24A	SLCO6A1_ENST00000379807.3_Silent_p.A24A|SLCO6A1_ENST00000389019.3_Silent_p.A24A|SLCO6A1_ENST00000514551.1_5'Flank|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Silent_p.A24A|SLCO6A1_ENST00000513675.1_Silent_p.A24A			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.A24A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGGCCCGCGCGGCCTCCAGCG	0.652																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)	5											79	93	88					5																	101834477		2203	4298	6501	101862376	SO:0001819	synonymous_variant	0			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"Solute carriers"	23613	protein-coding gene	gene with protein product	"cancer/testis antigen 48"	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.72C>T	5.37:g.101834477G>A		62	4.62	3					101862376	42	42.31	33	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors	p.A24	ENST00000506729.1	37	c.72	CCDS34206.1	5																																																																																			-	NULL		0.652	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO6A1	protein_coding	OTTHUMT00000370335.1	G	NM_173488		101862376	-1	no_errors	NM_173488.3	genbank	human	validated	54_36p	silent	SNP	0.000	A	A	101834477	G	A	101834477	2	1	48	1	0	0	0	0	0	0	0	1	14732	1103	39	1		1	SLCO6A1	5	101834477	Silent	SNP	G	TCGA-AB-2853-03D-01W-0755-09		101834477	79080783	4	500											
SLC13A1	6561	genome.wustl.edu	37	7	122755703	122755703	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr7:122755703C>A	ENST00000194130.2	-	15	1696	c.1657G>T	c.(1657-1659)Gct>Tct	p.A553S	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	553					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CCAAGTCCAGCTTTAACCTTG	0.423																																						dbGAP											0			7											173	131	145					7																	122755703		2203	4300	6503	122542939	SO:0001583	missense	0				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"Solute carriers"	10916	protein-coding gene	gene with protein product		606193	"solute carrier family 13 (sodium/sulphate symporters), member 1"			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.1657G>T	7.37:g.122755703C>A	ENSP00000194130:p.Ala553Ser	120	7.69	10					122542939	107	45.96	91	Q9H5Z0	Missense_Mutation	SNP	HMMPfam_Na_sulph_symp,PatternScan_NA_SULFATE	p.A553S	ENST00000194130.2	37	c.1657	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383037	0.82792	.	.	ENSG00000081800	ENST00000194130	T	0.02974	4.09	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.16471	0.0396	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00025	-1.2321	10	0.51188	T	0.08	.	19.0709	0.93136	0.0:1.0:0.0:0.0	.	553;553	A4D0X1;Q9BZW2	.;S13A1_HUMAN	S	553	ENSP00000194130:A553S	ENSP00000194130:A553S	A	-	1	0	SLC13A1	122542939	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.040000	0.49799	2.744000	0.94065	0.655000	0.94253	GCT	-	HMMPfam_Na_sulph_symp		0.423	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	protein_coding	OTTHUMT00000347404.1	C	NM_022444		122542939	-1	no_errors	NM_022444.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	122755703	C	A	122755703	3	1	48	1	0	0	0	0	1	0	0	0	14391	797	28	4	134	4	SLC13A1	7	122755703	Missense_Mutation	SNP	C	TCGA-AB-2853-03D-01W-0755-09		122755703	36382960	5	501											
SMC3	9126	genome.wustl.edu	37	10	112356174	112356174	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr10:112356174G>C	ENST00000361804.4	+	19	2108	c.1982G>C	c.(1981-1983)cGg>cCg	p.R661P		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	661	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTCAGCCATCGGGGTGCTCTA	0.353																																						dbGAP											0			10											105	106	106					10																	112356174		2203	4300	6503	112346164	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1982G>C	10.37:g.112356174G>C	ENSP00000354720:p.Arg661Pro	56	6.67	4		78	46.58	68	112346164	38	56.18	50	A8K156|O60464|Q5T482	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain	p.R661P	ENST00000361804.4	37	c.1982	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143813	0.57044	.	.	ENSG00000108055	ENST00000361804	D	0.86030	-2.06	5.33	5.33	0.75918	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.90974	0.7162	L	0.58510	1.815	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.91051	0.4878	10	0.54805	T	0.06	.	19.0314	0.92959	0.0:0.0:1.0:0.0	.	661	Q9UQE7	SMC3_HUMAN	P	661	ENSP00000354720:R661P	ENSP00000354720:R661P	R	+	2	0	SMC3	112346164	1.000000	0.71417	0.998000	0.56505	0.062000	0.15995	9.372000	0.97165	2.489000	0.83994	0.313000	0.20887	CGG	-	HMMPfam_SMC_N,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.353	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112346164	1	no_errors	NM_005445.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	112356174	G	C	112356174	3	2	48	1	0	0	0	0	1	0	0	0	14784	1116	39	4	2056	4	SMC3	10	112356174	Missense_Mutation	SNP	G	TCGA-AB-2853-03D-01W-0755-09		112356174	23178573	6	502											
FLT3	2322	genome.wustl.edu	37	13	28608268	28608269	+	In_Frame_Ins	INS	-	-	TCTCTGAAATCAACGTAG			TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	-	-	-	TCTCTGAAATCAACGTAG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr13:28608268_28608269insTCTCTGAAATCAACGTAG	ENST00000241453.7	-	14	1868_1869	c.1787_1788insCTACGTTGATTTCAGAGA	c.(1786-1788)gaa>gaCTACGTTGATTTCAGAGAa	p.595_596insDYVDFR	FLT3_ENST00000380982.4_In_Frame_Ins_p.595_596insDYVDFR|FLT3_ENST00000537084.1_In_Frame_Ins_p.595_596insDYVDFR	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	595	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E596_Y597ins12(3)|p.595_596>DNEYFYVDFR(1)|p.R595_E596insDFYVDFR(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATATTCATATTCTCTGAAATC	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Insertion - In frame(4)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506269	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1770_1787dupCTACGTTGATTTCAGAGA	13.37:g.28608268_28608269insTCTCTGAAATCAACGTAG	ENSP00000241453:p.Arg595_Glu596insAspTyrValAspPheArg								27506268				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.596in_frame_insDYVDFR	ENST00000241453.7	37	c.1788_1787	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506269	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.794:0.991	TCTCTGAAATCAACGTAG	TCTCTGAAATCAACGTAG	28608269	-	TCTCTGAAATCAACGTAG	28608268	7	5	48	1	0	1	1	0	0	0	0	0	5942	1490	52	0	1237	0	FLT3	13	28608268	In_Frame_Ins	INS	-	TCGA-AB-2853-03D-01W-0755-09		28608268	86561610	7	503											
SPTLC2	9517	genome.wustl.edu	37	14	78018487	78018487	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr14:78018487T>C	ENST00000216484.2	-	9	1448	c.1255A>G	c.(1255-1257)Atc>Gtc	p.I419V	SPTLC2_ENST00000556264.1_5'UTR	NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	419					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)	GAGGTGATGATCTGCTCCACT	0.498																																						dbGAP											0			14											141	103	116					14																	78018487		2203	4300	6503	77088240	SO:0001583	missense	0			AB011098	CCDS9865.1	14q24.3	2014-09-17			ENSG00000100596	ENSG00000100596	2.3.1.50		11278	protein-coding gene	gene with protein product		605713				8921873, 9363775	Standard	NM_004863		Approved	KIAA0526, LCB2, LCB2A, hLCB2a	uc001xub.3	O15270		ENST00000216484.2:c.1255A>G	14.37:g.78018487T>C	ENSP00000216484:p.Ile419Val	120	6.98	9		38	78.92	146	77088240	121	44.89	101	Q16685	Missense_Mutation	SNP	PatternScan_AA_TRANSFER_CLASS_2,HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major	p.I419V	ENST00000216484.2	37	c.1255	CCDS9865.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.87|14.87	2.663201|2.663201	0.47572|0.47572	.|.	.|.	ENSG00000100596|ENSG00000100596	ENST00000554901|ENST00000216484	.|D	.|0.95001	.|-3.58	5.64|5.64	4.5|4.5	0.54988|0.54988	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.047909	.|0.85682	.|D	.|0.000000	D|D	0.92176|0.92176	0.7519|0.7519	L|L	0.37630|0.37630	1.12|1.12	0.80722|0.80722	D|D	1|1	.|B	.|0.27316	.|0.175	.|B	.|0.39738	.|0.308	D|D	0.88425|0.88425	0.3031|0.3031	5|10	.|0.32370	.|T	.|0.25	-13.1385|-13.1385	11.4379|11.4379	0.50078|0.50078	0.0:0.0695:0.0:0.9305|0.0:0.0695:0.0:0.9305	.|.	.|419	.|O15270	.|SPTC2_HUMAN	G|V	355|419	.|ENSP00000216484:I419V	.|ENSP00000216484:I419V	D|I	-|-	2|1	0|0	SPTLC2|SPTLC2	77088240|77088240	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	6.131000|6.131000	0.71670|0.71670	1.163000|1.163000	0.42636|0.42636	0.528000|0.528000	0.53228|0.53228	GAT|ATC	-	HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major		0.498	SPTLC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC2	protein_coding	OTTHUMT00000414030.1	T	NM_004863		77088240	-1	no_errors	NM_004863.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	78018487	T	C	78018487	3	2	48	1	0	0	0	0	1	0	0	0	15123	1435	50	3	449	3	SPTLC2	14	78018487	Missense_Mutation	SNP	T	TCGA-AB-2853-03D-01W-0755-09		78018487	29331053	8	504											
TANC2	26115	genome.wustl.edu	37	17	61498206	61498206	+	Silent	SNP	C	C	T			TCGA-AB-2853-03D-01W-0755-09	TCGA-AB-2853-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9e238bbc-61ba-4966-b30e-ba7ab1a5b11b	a8e7b351-f635-4026-b352-8129f8caa837	g.chr17:61498206C>T	ENST00000424789.2	+	25	4867	c.4863C>T	c.(4861-4863)gcC>gcT	p.A1621A	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.A1631A	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1621					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCCAGCCGTCCATTCAA	0.572																																						dbGAP											0			17											75	78	77					17																	61498206		2075	4216	6291	58851938	SO:0001819	synonymous_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"Ankyrin repeat domain containing", "Tetratricopeptide (TTC) repeat domain containing"	30212	protein-coding gene	gene with protein product	"rolling pebbles homolog B (Drosophila)"	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4863C>T	17.37:g.61498206C>T		219	2.23	5		6	40	4	58851938	76	53.53	91	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00028,superfamily_TPR-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A1621	ENST00000424789.2	37	c.4863	CCDS45754.1	17																																																																																			-	NULL		0.572	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	protein_coding	OTTHUMT00000444765.1	C			58851938	1	no_errors	NM_025185.3	genbank	human	validated	54_36p	silent	SNP	0.891	T	T	61498206	C	T	61498206	2	4	48	1	0	0	0	0	0	0	0	1	15542	639	23	1		1	TANC2	17	61498206	Silent	SNP	C	TCGA-AB-2853-03D-01W-0755-09		61498206	19697004	9	505											
VPS13D	55187	genome.wustl.edu	37	1	12460296	12460296	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr1:12460296G>A	ENST00000358136.3	+	61	11823	c.11693G>A	c.(11692-11694)aGc>aAc	p.S3898N	VPS13D_ENST00000356315.4_Missense_Mutation_p.S3873N|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACTCCCCTGAGCAATGAGAAT	0.517																																						dbGAP											0			1											119	102	108					1																	12460296		2203	4300	6503	12382883	SO:0001583	missense	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"vacuolar protein sorting 13D (yeast)"				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.11693G>A	1.37:g.12460296G>A	ENSP00000350854:p.Ser3898Asn	160	1.22	2		13	23.53	4	12382883	39	22	11		Missense_Mutation	SNP	HMMPfam_UBA,superfamily_UBA-like,HMMPfam_DUF1162,HMMSmart_SM00165	p.S3898N	ENST00000358136.3	37	c.11693	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.578869|3.578869	0.65878|0.65878	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.53640	.|0.61;0.61	6.03|6.03	5.11|5.11	0.69529|0.69529	.|.	.|0.334540	.|0.41194	.|D	.|0.000927	T|T	0.43299|0.43299	0.1241|0.1241	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|B;P	.|0.34909	.|0.025;0.475	.|B;B	.|0.32211	.|0.031;0.142	T|T	0.41378|0.41378	-0.9512|-0.9512	5|10	.|0.48119	.|T	.|0.1	.|.	11.7241|11.7241	0.51700|0.51700	0.0:0.2311:0.6357:0.1333|0.0:0.2311:0.6357:0.1333	.|.	.|3873;3897	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	T|N	2720|3873;3898	.|ENSP00000348666:S3873N;ENSP00000350854:S3898N	.|ENSP00000348666:S3873N	A|S	+|+	1|2	0|0	VPS13D|VPS13D	12382883|12382883	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.435000|1.435000	0.34969|0.34969	1.537000|1.537000	0.49254|0.49254	0.655000|0.655000	0.94253|0.94253	GCA|AGC	-	NULL		0.517	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12382883	1	no_errors	NM_015378.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	A	A	12460296	G	A	12460296	3	1	49	1	0	0	0	0	1	0	0	0	17189	971	34	2	11931	2	VPS13D	1	12460296	Missense_Mutation	SNP	G	TCGA-AB-2854-03B-01W-0728-08		12460296	236790325	1	506											
PSME4	23198	genome.wustl.edu	37	2	54115909	54115909	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr2:54115909A>C	ENST00000404125.1	-	38	4392	c.4337T>G	c.(4336-4338)cTg>cGg	p.L1446R	PSME4_ENST00000476586.1_5'Flank|PSME4_ENST00000421748.2_Missense_Mutation_p.L590R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1446					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTCCAACAGCAGTTCAAAAAG	0.368																																						dbGAP											0			2											123	120	121					2																	54115909		2203	4300	6503	53969413	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"Proteasome (prosome, macropain) subunits"	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4337T>G	2.37:g.54115909A>C	ENSP00000384211:p.Leu1446Arg	71	0	0		60	20	15	53969413	60	29.41	25	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM repeat	p.L1332R	ENST00000404125.1	37	c.3995	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	A	26.4	4.731242	0.89390	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.26067	1.76;1.78	5.74	5.74	0.90152	Armadillo-type fold (1);	0.126375	0.53938	D	0.000053	T	0.39600	0.1084	L	0.56769	1.78	0.58432	D	0.999999	P;D;P	0.53462	0.624;0.96;0.89	B;P;B	0.54312	0.426;0.748;0.298	T	0.07462	-1.0771	10	0.24483	T	0.36	-12.9132	16.043	0.80698	1.0:0.0:0.0:0.0	.	821;590;1446	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	590;1446	ENSP00000410830:L590R;ENSP00000384211:L1446R	ENSP00000384211:L1446R	L	-	2	0	PSME4	53969413	1.000000	0.71417	0.601000	0.28877	0.991000	0.79684	9.339000	0.96797	2.181000	0.69327	0.528000	0.53228	CTG	-	superfamily_ARM repeat		0.368	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	protein_coding	OTTHUMT00000324163.1	A	XM_040158		53969413	-1	no_errors	NM_014614.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	54115909	A	C	54115909	3	2	49	1	0	0	0	0	1	0	0	0	12709	188	7	5	1230	5	PSME4	2	54115909	Missense_Mutation	SNP	A	TCGA-AB-2854-03B-01W-0728-08		54115909	189083464	2	507											
FRYL	285527	genome.wustl.edu	37	4	48567709	48567709	+	Splice_Site	SNP	C	C	T			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr4:48567709C>T	ENST00000503238.1	-	26	3169		c.e26-1		FRYL_ENST00000358350.4_Splice_Site|FRYL_ENST00000537810.1_Splice_Site|FRYL_ENST00000264319.7_Splice_Site|FRYL_ENST00000507711.1_Splice_Site			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTCTGGTGCACTGTGAATAAA	0.343																																						dbGAP											0			4											80	74	76					4																	48567709		1835	4082	5917	48262466	SO:0001630	splice_region_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3170-1G>A	4.37:g.48567709C>T		57	0	0		4	0	0	48262466	48	22.58	14	O95640|Q8WTZ5|Q9NT40	Splice_Site	SNP	-	e26-1	ENST00000503238.1	37	c.3170-1	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478404	0.63849	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FRYL	48262466	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	7.792000	0.85828	2.894000	0.99253	0.591000	0.81541	.	-	-		0.343	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	protein_coding	OTTHUMT00000369265.2	C		Intron	48262466	-1	no_errors	NM_015030.1	genbank	human	validated	54_36p	splice_site	SNP	1.000	T	T	48567709	C	T	48567709	5	4	49	1	0	0	0	0	0	0	1	0	6064	579	20	2	6016	2	FRYL	4	48567709	Splice_Site	SNP	C	TCGA-AB-2854-03B-01W-0728-08		48567709	142586567	3	508											
HEATR7B2	133558	genome.wustl.edu	37	5	41058297	41058297	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr5:41058297G>T	ENST00000399564.4	-	7	1074	c.624C>A	c.(622-624)agC>agA	p.S208R	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	208																	CCTTAACGATGCTCAAAGTCT	0.507																																						dbGAP											0			5											51	49	50					5																	41058297		1920	4132	6052	41094054	SO:0001583	missense	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"maestro heat-like repeat containing"	26857	protein-coding gene	gene with protein product			"HEAT repeat family member 7B2"	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.624C>A	5.37:g.41058297G>T	ENSP00000382476:p.Ser208Arg	385	1.02	4					41094054	60	23.08	18	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM repeat	p.S208R	ENST00000399564.4	37	c.624	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	5.156	0.214419	0.09810	.	.	ENSG00000171495	ENST00000399564	T	0.06528	3.29	4.73	0.307	0.15811	Armadillo-type fold (1);	1.556560	0.03819	N	0.267194	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.30281	0.275	B	0.29353	0.101	T	0.36986	-0.9725	10	0.72032	D	0.01	.	2.9914	0.05984	0.2229:0.0:0.4095:0.3676	.	208	Q7Z745	HTRB2_HUMAN	R	208	ENSP00000382476:S208R	ENSP00000382476:S208R	S	-	3	2	HEATR7B2	41094054	0.854000	0.29725	0.009000	0.14445	0.001000	0.01503	1.366000	0.34193	0.226000	0.20979	-0.355000	0.07637	AGC	-	NULL		0.507	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41094054	-1	no_errors	NM_173489.4	genbank	human	validated	54_36p	missense	SNP	0.001	T	T	41058297	G	T	41058297	3	4	49	1	0	0	0	0	1	0	0	0	7035	1310	46	4	4277	4	HEATR7B2	5	41058297	Missense_Mutation	SNP	G	TCGA-AB-2854-03B-01W-0728-08		41058297	139856963	4	509											
PCDHB16	57717	genome.wustl.edu	37	5	140563348	140563348	+	Missense_Mutation	SNP	C	C	T	rs370659703		TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr5:140563348C>T	ENST00000361016.2	+	1	2369	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	405	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTTGGTAACGGAGAGAGCA	0.463																																						dbGAP											0			5											88	94	92					5																	140563348		2203	4300	6503	140543532	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"Cadherins / Protocadherins : Clustered"	14546	other	protocadherin	"cadherin ME1", "protocadherin-3x", "PCDHbeta 16"	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1214C>T	5.37:g.140563348C>T	ENSP00000354293:p.Thr405Met	47	0	0					140543532	18	18.18	4	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.T405M	ENST00000361016.2	37	c.1214	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	C	16.12	3.032543	0.54790	.	.	ENSG00000196963	ENST00000361016	T	0.56941	0.43	4.3	4.3	0.51218	Cadherin (4);Cadherin-like (1);	0.000000	0.35378	N	0.003251	T	0.81278	0.4789	H	0.99026	4.405	0.28580	N	0.910209	D;D	0.76494	0.994;0.999	P;D	0.69824	0.78;0.966	T	0.79610	-0.1732	10	0.87932	D	0	.	10.2406	0.43310	0.0:0.8495:0.0:0.1505	.	95;405	O15199;Q9NRJ7	.;PCDBG_HUMAN	M	405	ENSP00000354293:T405M	ENSP00000354293:T405M	T	+	2	0	PCDHB16	140543532	0.349000	0.24870	0.058000	0.19502	0.827000	0.46813	2.518000	0.45537	1.936000	0.56123	0.585000	0.79938	ACG	-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.463	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	protein_coding	OTTHUMT00000251800.1	C	NM_020957		140543532	1	no_errors	NM_020957.1	genbank	human	reviewed	54_36p	missense	SNP	0.301	T	T	140563348	C	T	140563348	3	4	49	1	0	0	0	0	1	0	0	0	11541	536	19	1	1216	1	PCDHB16	5	140563348	Missense_Mutation	SNP	C	TCGA-AB-2854-03B-01W-0728-08	99505051	140563348	40351912	5	510											
ADRA1A	148	genome.wustl.edu	37	8	26627861	26627861	+	Silent	SNP	G	G	A			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr8:26627861G>A	ENST00000519229.1	-	2	1212	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S	ADRA1A_ENST00000380582.3_Silent_p.S402S|ADRA1A_ENST00000354550.4_Silent_p.S402S|ADRA1A_ENST00000380573.3_Silent_p.S402S|ADRA1A_ENST00000276393.4_Silent_p.S402S|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380586.1_Silent_p.S402S			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CACGGGGCATGGAAGAGAAAA	0.517																																						dbGAP											0			8											115	115	115					8																	26627861		2203	4300	6503	26683778	SO:0001819	synonymous_variant	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"GPCR / Class A : Adrenoceptors : alpha"	277	protein-coding gene	gene with protein product		104221	"adrenergic, alpha-1A-, receptor"	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1206C>T	8.37:g.26627861G>A		280	0.35	1					26683778	53	27.03	20	Q9NPY0	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.S402	ENST00000519229.1	37	c.1206		8																																																																																			-	NULL		0.517	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	ADRA1A	protein_coding	OTTHUMT00000376207.1	G	NM_033303		26683778	-1	no_errors	NM_033303.2	genbank	human	reviewed	54_36p	silent	SNP	0.173	A	A	26627861	G	A	26627861	2	1	49	1	0	0	0	0	0	0	0	1	334	1335	47	2		2	ADRA1A	8	26627861	Silent	SNP	G	TCGA-AB-2854-03B-01W-0728-08		26627861	119736161	6	511											
TFAM	7019	genome.wustl.edu	37	10	60154791	60154791	+	Missense_Mutation	SNP	G	G	A	rs375752119		TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr10:60154791G>A	ENST00000487519.1	+	7	1224	c.698G>A	c.(697-699)cGc>cAc	p.R233H	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Missense_Mutation_p.R201H	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	233					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTTCTACGTCGCACAATAAAG	0.383																																						dbGAP											0			10						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	85	73	77		698	4.4	0.8	10		77	0,8600		0,0,4300	no	missense	TFAM	NM_003201.1	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	233/247	60154791	2,13004	2203	4300	6503	59824797	SO:0001583	missense	0			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.698G>A	10.37:g.60154791G>A	ENSP00000420588:p.Arg233His	93	0	0		26	18.75	6	59824797	28	36.36	16	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Missense_Mutation	SNP	HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box	p.R233H	ENST00000487519.1	37	c.698	CCDS7253.1	10	.	.	.	.	.	.	.	.	.	.	G	14.97	2.695119	0.48202	4.54E-4	0.0	ENSG00000108064	ENST00000487519;ENST00000373895	T;D	0.99226	2.44;-5.59	5.32	4.41	0.53225	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.197304	0.42420	D	0.000711	D	0.98960	0.9646	M	0.66939	2.045	0.37101	D	0.899905	D;D	0.89917	1.0;0.986	P;B	0.62435	0.902;0.407	D	0.99932	1.1331	10	0.56958	D	0.05	.	9.7982	0.40748	0.0946:0.0:0.9054:0.0	.	201;233	A8MRB2;Q00059	.;TFAM_HUMAN	H	233;201	ENSP00000420588:R233H;ENSP00000363002:R201H	ENSP00000363002:R201H	R	+	2	0	TFAM	59824797	0.966000	0.33281	0.843000	0.33291	0.166000	0.22503	2.033000	0.41136	1.239000	0.43787	0.609000	0.83330	CGC	-	superfamily_HMG-box		0.383	TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAM	protein_coding	OTTHUMT00000048146.1	G	NM_003201		59824797	1	no_errors	NM_003201.1	genbank	human	provisional	54_36p	missense	SNP	0.053	A	A	60154791	G	A	60154791	3	1	49	1	0	0	0	0	1	0	0	0	15783	1087	38	1	724	1	TFAM	10	60154791	Missense_Mutation	SNP	G	TCGA-AB-2854-03B-01W-0728-08		60154791	75379956	7	512											
BUB3	9184	genome.wustl.edu	37	10	124921780	124921780	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr10:124921780G>T	ENST00000368865.4	+	6	814	c.605G>T	c.(604-606)cGa>cTa	p.R202L	BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000538238.1_Missense_Mutation_p.R122L|BUB3_ENST00000368858.5_Missense_Mutation_p.R202L|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	202					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|regulation of chromosome segregation (GO:0051983)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|spindle assembly checkpoint (GO:0071173)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)		p.R202L(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ATTGAAGGCCGAGTGGCAGTT	0.393																																					GBM(161;1111 1985 17553 20049 26037)	dbGAP											2	Substitution - Missense(2)	lung(2)	10											196	214	208					10																	124921780		2203	4300	6503	124911770	SO:0001583	missense	0			AF053304	CCDS7635.1, CCDS31306.1	10q24	2013-01-17	2013-01-17		ENSG00000154473	ENSG00000154473		"WD repeat domain containing"	1151	protein-coding gene	gene with protein product		603719	"BUB3 (budding uninhibited by benzimidazoles 3, yeast) homolog", "budding uninhibited by benzimidazoles 3 homolog (yeast)"			9660858	Standard	NM_004725		Approved	BUB3L	uc001lhe.2	O43684	OTTHUMG00000019197	ENST00000368865.4:c.605G>T	10.37:g.124921780G>T	ENSP00000357858:p.Arg202Leu	102	0	0		103	27.46	39	124911770	39	15.22	7	A6NJ42|B2R6E7|D3DRE9|O43685	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.R202L	ENST00000368865.4	37	c.605	CCDS7635.1	10	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977166	0.92982	.	.	ENSG00000154473	ENST00000368865;ENST00000538238;ENST00000368858;ENST00000407911	T;T;T;T	0.70399	-0.48;1.58;-0.48;-0.48	5.5	4.6	0.57074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.89396	0.6703	H	0.97659	4.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	D	0.92901	0.6339	10	0.87932	D	0	-4.8033	14.363	0.66785	0.0714:0.0:0.9286:0.0	.	202;202	O43684;O43684-2	BUB3_HUMAN;.	L	202;122;202;202	ENSP00000357858:R202L;ENSP00000444354:R122L;ENSP00000357851:R202L;ENSP00000383941:R202L	ENSP00000357851:R202L	R	+	2	0	BUB3	124911770	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.767000	0.98960	1.448000	0.47680	0.650000	0.86243	CGA	-	superfamily_WD40 repeat-like		0.393	BUB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BUB3	protein_coding	OTTHUMT00000050835.1	G			124911770	1	no_errors	NM_004725.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	124921780	G	T	124921780	3	4	49	1	0	0	0	0	1	0	0	0	1572	1058	37	4	623	4	BUB3	10	124921780	Missense_Mutation	SNP	G	TCGA-AB-2854-03B-01W-0728-08	64766989	124921780	10612967	8	513											
ELF5	2001	genome.wustl.edu	37	11	34515066	34515066	+	Silent	SNP	G	G	A	rs200848772|rs34981489		TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr11:34515066G>A	ENST00000312319.2	-	3	574	c.345C>T	c.(343-345)ggC>ggT	p.G115G	ELF5_ENST00000528709.1_Intron|ELF5_ENST00000532417.1_Silent_p.G105G|ELF5_ENST00000257832.2_Silent_p.G105G|ELF5_ENST00000429939.2_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	115	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|ectoderm development (GO:0007398)|mammary gland epithelial cell differentiation (GO:0060644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				ACAGGTACTCGCCGCAGAGGC	0.552											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0	0	5008	,	,		19844	0		0.001	False		,,,				2504	0				Melanoma(61;202 1660 4348 21594)	dbGAP											0			11											65	50	55					11																	34515066		2202	4298	6500	34471642	SO:0001819	synonymous_variant	0			AF049703	CCDS7892.1, CCDS7893.1, CCDS58129.1, CCDS73273.1	11p13-p12	2008-05-14			ENSG00000135374	ENSG00000135374			3320	protein-coding gene	gene with protein product		605169				9840936	Standard	NM_001422		Approved		uc001mvp.2	Q9UKW6	OTTHUMG00000166451	ENST00000312319.2:c.345C>T	11.37:g.34515066G>A		125	1.56	2	848				34471642	24	20	6	A6XAE6|A8K452|O95175|Q8N2K9|Q96QY3|Q9UKW5	Silent	SNP	HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_"Winged helix" DNA-binding domain	p.G115	ENST00000312319.2	37	c.345	CCDS7892.1	11																																																																																			-	HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain		0.552	ELF5-002	KNOWN	basic|CCDS	protein_coding	ELF5	protein_coding	OTTHUMT00000389845.1	G	NM_198381		34471642	-1	no_errors	NM_198381.2	genbank	human	reviewed	54_36p	silent	SNP	0.979	A	A	34515066	G	A	34515066	2	1	49	1	0	0	0	0	0	0	0	1	5057	1074	38	1		1	ELF5	11	34515066	Silent	SNP	G	TCGA-AB-2854-03B-01W-0728-08		34515066	100491450	9	514											
ADAM11	4185	genome.wustl.edu	37	17	42855399	42855399	+	Missense_Mutation	SNP	C	C	A	rs374608514	byFrequency	TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr17:42855399C>A	ENST00000200557.6	+	24	2319	c.2150C>A	c.(2149-2151)aCg>aAg	p.T717K	ADAM11_ENST00000535346.1_Missense_Mutation_p.T517K	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	717					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCCTGCCCACGTCCCCACCC	0.602																																						dbGAP											0			17											92	94	93					17																	42855399		2203	4300	6503	40210925	SO:0001583	missense	0			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2150C>A	17.37:g.42855399C>A	ENSP00000200557:p.Thr717Lys	124	0	0					40210925	14	33.33	7	Q14808|Q14809|Q14810	Missense_Mutation	SNP	HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_CR,HMMSmart_SM00608,PatternScan_EGF_1,HMMPfam_EGF_2,PatternScan_DISINTEGRIN_1,superfamily_Metalloproteases ("zincins") catalytic domain,superfamily_EGF/Laminin	p.T717K	ENST00000200557.6	37	c.2150	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	C	0.566	-0.843271	0.02671	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.01963	4.53;4.91	4.82	4.82	0.62117	.	0.421199	0.24229	N	0.040375	T	0.01835	0.0058	N	0.22421	0.69	0.28072	N	0.932522	B;B	0.30686	0.002;0.29	B;B	0.30401	0.008;0.115	T	0.42515	-0.9447	10	0.33141	T	0.24	.	6.2948	0.21079	0.1848:0.7208:0.0:0.0944	.	517;717	B4DKD2;O75078	.;ADA11_HUMAN	K	717;517	ENSP00000200557:T717K;ENSP00000443773:T517K	ENSP00000200557:T717K	T	+	2	0	ADAM11	40210925	0.150000	0.22732	0.917000	0.36280	0.892000	0.51952	1.420000	0.34804	2.220000	0.72140	0.561000	0.74099	ACG	-	NULL		0.602	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	protein_coding	OTTHUMT00000444531.1	C	NM_002390		40210925	1	no_errors	NM_002390.4	genbank	human	reviewed	54_36p	missense	SNP	0.071	A	A	42855399	C	A	42855399	3	1	49	1	0	0	0	0	1	0	0	0	235	536	19	4	2244	4	ADAM11	17	42855399	Missense_Mutation	SNP	C	TCGA-AB-2854-03B-01W-0728-08		42855399	38339811	10	515											
MGAT5B	146664	genome.wustl.edu	37	17	74934142	74934142	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2854-03B-01W-0728-08	TCGA-AB-2854-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4b019998-e435-4144-84eb-f8ca8c8b0a25	a5982d14-b13d-4a1a-b791-4d50ad91651d	g.chr17:74934142C>T	ENST00000569840.2	+	13	2075	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	MGAT5B_ENST00000428789.2_Missense_Mutation_p.R510W|MGAT5B_ENST00000301618.4_Missense_Mutation_p.R499W	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	501					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGAGCCAGCGGCCCCCCGA	0.577																																						dbGAP											0			17											67	66	66					17																	74934142		2203	4300	6503	72445737	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	24140	protein-coding gene	gene with protein product		612441	"mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1501C>T	17.37:g.74934142C>T	ENSP00000456037:p.Arg501Trp	294	0	0					72445737	34	17.07	7	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	NULL	p.R510W	ENST00000569840.2	37	c.1528	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058068	0.76074	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.48522	0.81;0.81	4.65	3.63	0.41609	.	0.000000	0.85682	D	0.000000	T	0.64594	0.2612	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.68584	-0.5370	10	0.72032	D	0.01	-40.6726	12.5914	0.56445	0.2898:0.7102:0.0:0.0	.	510;499	Q3V5L5-2;Q3V5L5-5	.;.	W	499;510	ENSP00000301618:R499W;ENSP00000391227:R510W	ENSP00000301618:R499W	R	+	1	2	MGAT5B	72445737	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.515000	0.45512	2.116000	0.64780	0.455000	0.32223	CGG	-	NULL		0.577	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	protein_coding	OTTHUMT00000460624.2	C	NM_144677		72445737	1	no_errors	NM_198955.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	74934142	C	T	74934142	3	4	49	1	0	0	0	0	1	0	0	0	9549	759	27	1	1642	1	MGAT5B	17	74934142	Missense_Mutation	SNP	C	TCGA-AB-2854-03B-01W-0728-08	32078743	74934142	6261068	11	516											
TET1	80312	genome.wustl.edu	37	10	70450649	70450649	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2855-03B-01W-0728-08	TCGA-AB-2855-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27	56552b20-8a32-4584-a3dc-91cc0e4196f4	g.chr10:70450649C>T	ENST00000373644.4	+	12	5698	c.5489C>T	c.(5488-5490)aCt>aTt	p.T1830I		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1830					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AACACTAAAACTTATTCGCTG	0.483																																						dbGAP											0			10											95	97	96					10																	70450649		2203	4300	6503	70120655	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.5489C>T	10.37:g.70450649C>T	ENSP00000362748:p.Thr1830Ile	79	16.67	16		6	45.45	5	70120655	87	42.21	65	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	HMMPfam_zf-CXXC	p.T1830I	ENST00000373644.4	37	c.5489	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683663	0.47991	.	.	ENSG00000138336	ENST00000373644	T	0.06687	3.27	4.8	-6.81	0.01704	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	13.615900	0.00682	N	0.000688	T	0.06234	0.0161	L	0.33485	1.01	0.19945	N	0.999944	B	0.09022	0.002	B	0.08055	0.003	T	0.40346	-0.9568	10	0.72032	D	0.01	.	3.491	0.07637	0.1089:0.2488:0.411:0.2313	.	1830	Q8NFU7	TET1_HUMAN	I	1830	ENSP00000362748:T1830I	ENSP00000362748:T1830I	T	+	2	0	TET1	70120655	0.132000	0.22450	0.129000	0.21949	0.870000	0.49936	-0.909000	0.04058	-0.923000	0.03785	-0.165000	0.13383	ACT	-	NULL		0.483	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70120655	1	no_errors	NM_030625.2	genbank	human	validated	54_36p	missense	SNP	0.944	T	T	70450649	C	T	70450649	3	4	50	1	0	0	0	0	1	0	0	0	15766	565	20	2	5531	2	TET1	10	70450649	Missense_Mutation	SNP	C	TCGA-AB-2855-03B-01W-0728-08		70450649	65084098	1	517											
PTPN11	5781	genome.wustl.edu	37	12	112926852	112926852	+	Missense_Mutation	SNP	C	C	T	rs397507540		TCGA-AB-2855-03B-01W-0728-08	TCGA-AB-2855-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27	56552b20-8a32-4584-a3dc-91cc0e4196f4	g.chr12:112926852C>T	ENST00000351677.2	+	13	1670	c.1472C>T	c.(1471-1473)cCc>cTc	p.P491L		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	495	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.P491L(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATTGACGTTCCCAAAACCATC	0.433			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	12	GRCh37	CM053389|CM067454	PTPN11	M							160	146	151					12																	112926852		2203	4300	6503	111411235	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1472C>T	12.37:g.112926852C>T	ENSP00000340944:p.Pro491Leu	261	11.49	34		13	56.67	17	111411235	333	50	341	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.P491L	ENST00000351677.2	37	c.1472	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984335	0.93044	.	.	ENSG00000179295	ENST00000351677	D	0.81821	-1.54	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.73799	0.3633	L	0.38733	1.17	0.80722	D	1	P	0.36010	0.532	B	0.35182	0.197	T	0.70941	-0.4735	10	0.21014	T	0.42	.	18.9358	0.92584	0.0:1.0:0.0:0.0	.	491	Q06124-2	.	L	491	ENSP00000340944:P491L	ENSP00000340944:P491L	P	+	2	0	PTPN11	111411235	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.445000	0.80570	2.553000	0.86117	0.650000	0.86243	CCC	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II		0.433	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	C			111411235	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	112926852	C	T	112926852	3	4	50	1	0	0	0	0	1	0	0	0	12780	623	22	2	1522	2	PTPN11	12	112926852	Missense_Mutation	SNP	C	TCGA-AB-2855-03B-01W-0728-08		112926852	20925043	2	518											
PHF6	84295	genome.wustl.edu	37	X	133547903	133547904	+	Frame_Shift_Ins	INS	-	-	GGATA			TCGA-AB-2855-03B-01W-0728-08	TCGA-AB-2855-11B-01W-0729-08	-	-	-	GGATA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27	56552b20-8a32-4584-a3dc-91cc0e4196f4	g.chrX:133547903_133547904insGGATA	ENST00000332070.3	+	7	838_839	c.636_637insGGATA	c.(637-639)ggafs	p.-213fs	PHF6_ENST00000370800.4_Frame_Shift_Ins_p.-214fs|PHF6_ENST00000370803.3_Frame_Shift_Ins_p.-213fs|PHF6_ENST00000370799.1_Frame_Shift_Ins_p.-214fs|PHF6_ENST00000416404.2_Frame_Shift_Ins_p.-179fs|PHF6_ENST00000394292.1_Frame_Shift_Ins_p.-214fs	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)					GGCCTAAATGTGGATTTTGCCA	0.401			"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																																								133375570	SO:0001589	frameshift_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	Exception_encountered	X.37:g.133547903_133547904insGGATA	ENSP00000329097:p.Gly213fs								133375569				A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Frame_Shift_Ins	INS	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger	p.F213fs	ENST00000332070.3	37	c.636_637	CCDS14639.1	X																																																																																			-	NULL		0.401	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	-	NM_032458		133375570	1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	GGATA	GGATA	133547904	-	GGATA	133547903	7	5	50	1	0	1	1	0	0	0	0	0	11838	1702	59	0	661	0	PHF6	23	133547903	Frame_Shift_Ins	INS	-	TCGA-AB-2855-03B-01W-0728-08		133547903	21722657	3	519											
SAGE1	55511	genome.wustl.edu	37	X	134989144	134989144	+	Missense_Mutation	SNP	G	G	A	rs531224334		TCGA-AB-2855-03B-01W-0728-08	TCGA-AB-2855-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8bdab9f4-ca3d-4f77-b83e-6ec7df6c2a27	56552b20-8a32-4584-a3dc-91cc0e4196f4	g.chrX:134989144G>A	ENST00000370709.3	+	7	796	c.796G>A	c.(796-798)Gat>Aat	p.D266N	SAGE1_ENST00000324447.3_Missense_Mutation_p.D266N|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000535938.1_Missense_Mutation_p.D266N			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	266						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACCCCAACCTGATAACATCTT	0.458																																						dbGAP											0			X											144	117	126					X																	134989144		2203	4300	6503	134816810	SO:0001583	missense	0			AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"cancer/testis antigen 14"	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.796G>A	X.37:g.134989144G>A	ENSP00000359743:p.Asp266Asn	105	17.32	22		0	0	0	134816810	7	90.36	75	Q5JNW0	Missense_Mutation	SNP	NULL	p.D266N	ENST00000370709.3	37	c.796	CCDS14652.1	X	.	.	.	.	.	.	.	.	.	.	-	10.83	1.461312	0.26248	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.34667	1.35;1.35;1.35	1.76	1.76	0.24704	.	0.221066	0.36740	U	0.002424	T	0.14570	0.0352	N	0.17082	0.46	0.09310	N	0.999994	B	0.28350	0.208	B	0.22152	0.038	T	0.27872	-1.0061	10	0.05351	T	0.99	.	6.3503	0.21373	0.0:0.0:1.0:0.0	.	266	Q9NXZ1	SAGE1_HUMAN	N	266	ENSP00000323191:D266N;ENSP00000445959:D266N;ENSP00000359743:D266N	ENSP00000323191:D266N	D	+	1	0	SAGE1	134816810	0.909000	0.30893	0.006000	0.13384	0.011000	0.07611	1.725000	0.38074	1.158000	0.42547	0.171000	0.16805	GAT	-	NULL		0.458	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAGE1	protein_coding	OTTHUMT00000058448.1	G	NM_018666		134816810	1	no_errors	NM_018666.2	genbank	human	reviewed	54_36p	missense	SNP	0.516	A	A	134989144	G	A	134989144	3	1	50	1	0	0	0	0	1	0	0	0	13809	1290	45	2	822	2	SAGE1	23	134989144	Missense_Mutation	SNP	G	TCGA-AB-2855-03B-01W-0728-08	1441241	134989144	20281416	4	520											
SCN1A	6323	genome.wustl.edu	37	2	166903315	166903315	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr2:166903315T>C	ENST00000303395.4	-	9	1341	c.1342A>G	c.(1342-1344)Att>Gtt	p.I448V	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.I448V|SCN1A_ENST00000423058.2_Missense_Mutation_p.I448V|SCN1A_ENST00000375405.3_Missense_Mutation_p.I448V|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	448					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCTGTTCAATCATCTGCTGA	0.458																																						dbGAP											0			2											119	105	110					2																	166903315		2203	4300	6503	166611561	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1342A>G	2.37:g.166903315T>C	ENSP00000303540:p.Ile448Val	231	1.28	3					166611561	85	33.33	43	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324	p.I448V	ENST00000303395.4	37	c.1342	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336140	0.41398	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.28	5.31	2.41	0.29592	.	0.112301	0.39985	N	0.001204	T	0.45337	0.1337	N	0.03608	-0.345	0.31708	N	0.639857	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.001	T	0.47100	-0.9143	10	0.66056	D	0.02	.	9.6458	0.39865	0.0674:0.0:0.6722:0.2604	.	448;448;448	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	448	ENSP00000407030:I448V;ENSP00000303540:I448V;ENSP00000364554:I448V;ENSP00000386312:I448V	ENSP00000303540:I448V	I	-	1	0	SCN1A	166611561	1.000000	0.71417	0.889000	0.34880	0.890000	0.51754	2.762000	0.47597	0.270000	0.21984	-0.213000	0.12676	ATT	-	NULL		0.458	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	T	NM_006920		166611561	-1	no_errors	NM_006920.4	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	166903315	T	C	166903315	3	2	51	1	0	0	0	0	1	0	0	0	13914	1435	50	3	4759	3	SCN1A	2	166903315	Missense_Mutation	SNP	T	TCGA-AB-2857-03B-01W-0728-08		166903315	76296058	1	521											
DOCK10	55619	genome.wustl.edu	37	2	225717836	225717836	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr2:225717836C>T	ENST00000258390.7	-	17	1959	c.1892G>A	c.(1891-1893)tGt>tAt	p.C631Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.C625Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	631					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CGATGTTACACAATCTTAAAA	0.328																																						dbGAP											0			2											69	63	65					2																	225717836		1825	4079	5904	225426080	SO:0001583	missense	0			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"Pleckstrin homology (PH) domain containing"	23479	protein-coding gene	gene with protein product	"zizimin3"	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1892G>A	2.37:g.225717836C>T	ENSP00000258390:p.Cys631Tyr	253	0	0		26	23.53	8	225426080	181	30.34	81	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto,superfamily_PH domain-like	p.C631Y	ENST00000258390.7	37	c.1892	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150821	0.57151	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.22336	1.96;1.96	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.48537	0.1505	M	0.80422	2.495	0.58432	D	0.999996	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.972	T	0.39375	-0.9617	10	0.13108	T	0.6	.	19.5371	0.95257	0.0:1.0:0.0:0.0	.	631;625	Q96BY6;B3FL70	DOC10_HUMAN;.	Y	625;631	ENSP00000386694:C625Y;ENSP00000258390:C631Y	ENSP00000258390:C631Y	C	-	2	0	DOCK10	225426080	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.445000	0.80570	2.695000	0.91970	0.453000	0.30009	TGT	-	NULL		0.328	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	C			225426080	-1	no_errors	NM_014689.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	225717836	C	T	225717836	3	4	51	1	0	0	0	0	1	0	0	0	4685	478	17	2	4828	2	DOCK10	2	225717836	Missense_Mutation	SNP	C	TCGA-AB-2857-03B-01W-0728-08	58814521	225717836	17481537	2	522											
COL25A1	84570	genome.wustl.edu	37	4	109820309	109820309	+	Splice_Site	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr4:109820309C>T	ENST00000399132.1	-	15	1392		c.e15+1		COL25A1_ENST00000399127.1_Splice_Site|COL25A1_ENST00000399126.1_Splice_Site	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ATCATTCTTACCTTTTCACCT	0.378																																						dbGAP											0			4											149	161	157					4																	109820309		1906	4104	6010	110039758	SO:0001630	splice_region_variant	0			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"Collagens"	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.861+1G>A	4.37:g.109820309C>T		288	0.35	1					110039758	137	28.72	56		Splice_Site	SNP	-	e14+1	ENST00000399132.1	37	c.861+1	CCDS43258.1	4	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943428	0.73672	.	.	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3655	0.83319	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL25A1	110039758	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	4.183000	0.58317	2.696000	0.92011	0.655000	0.94253	.	-	-		0.378	COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL25A1	protein_coding	OTTHUMT00000315938.2	C	NM_032518	Intron	110039758	-1	no_errors	NM_198721.2	genbank	human	validated	54_36p	splice_site	SNP	0.998	T	T	109820309	C	T	109820309	5	4	51	1	0	0	0	0	0	0	1	0	3684	521	18	2	1282	2	COL25A1	4	109820309	Splice_Site	SNP	C	TCGA-AB-2857-03B-01W-0728-08		109820309	81333967	3	523											
CSMD3	114788	genome.wustl.edu	37	8	113678593	113678593	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr8:113678593C>T	ENST00000297405.5	-	17	2973	c.2729G>A	c.(2728-2730)gGa>gAa	p.G910E	CSMD3_ENST00000343508.3_Missense_Mutation_p.G870E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G910E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G806E	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	910	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G910E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCTGGCCATCCTGGTGAGAG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											1	Substitution - Missense(1)	lung(1)	8											61	59	60					8																	113678593		2203	4300	6503	113747769	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2729G>A	8.37:g.113678593C>T	ENSP00000297405:p.Gly910Glu	181	0	0					113747769	98	36.13	56	Q96PZ3	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,PatternScan_GLYCOSYL_HYDROL_F10,superfamily_Complement control module/SCR domain	p.G910E	ENST00000297405.5	37	c.2729	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.372562	0.95923	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1	6.1	6.1	0.99115	CUB (5);	0.000000	0.64402	D	0.000001	T	0.77538	0.4145	M	0.71871	2.18	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76591	-0.2903	10	0.62326	D	0.03	.	20.7146	0.99709	0.0:1.0:0.0:0.0	.	806;910;870	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	E	870;910;250;806;910	ENSP00000345799:G870E;ENSP00000297405:G910E;ENSP00000341558:G250E;ENSP00000412263:G806E;ENSP00000343124:G910E	ENSP00000297405:G910E	G	-	2	0	CSMD3	113747769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.902000	0.99343	0.650000	0.86243	GGA	-	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113747769	-1	no_errors	NM_198123.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	113678593	C	T	113678593	3	4	51	1	0	0	0	0	1	0	0	0	3946	855	30	2	8614	2	CSMD3	8	113678593	Missense_Mutation	SNP	C	TCGA-AB-2857-03B-01W-0728-08		113678593	32685429	4	524											
JMJD1C	221037	genome.wustl.edu	37	10	64967168	64967168	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr10:64967168A>G	ENST00000399262.2	-	10	4479	c.4261T>C	c.(4261-4263)Tca>Cca	p.S1421P	JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1202P|JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1202P|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1239P	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1421					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATGGTATTTGATAAAGAGGAA	0.418																																						dbGAP											0			10											120	121	121					10																	64967168		1939	4137	6076	64637174	SO:0001583	missense	0			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"thyroid hormone receptor interactor 8"	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.4261T>C	10.37:g.64967168A>G	ENSP00000382204:p.Ser1421Pro	164	0	0		40	40.3	27	64637174	76	28.7	31	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like	p.S1421P	ENST00000399262.2	37	c.4261	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	A	15.11	2.735928	0.49045	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.56941	0.78;0.43;2.37;0.78	5.72	4.59	0.56863	.	0.324250	0.30244	N	0.010070	T	0.63581	0.2523	L	0.52364	1.645	0.52099	D	0.999947	D;D;D	0.76494	0.999;0.998;0.998	D;P;P	0.64410	0.925;0.897;0.897	T	0.64694	-0.6347	10	0.66056	D	0.02	-5.7706	11.5593	0.50768	0.9303:0.0:0.0697:0.0	.	962;1421;1239	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	P	1421;1202;1202;1239	ENSP00000382204:S1421P;ENSP00000384990:S1202P;ENSP00000382195:S1202P;ENSP00000444682:S1239P	ENSP00000382195:S1202P	S	-	1	0	JMJD1C	64637174	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.469000	0.53093	1.001000	0.39076	0.482000	0.46254	TCA	-	NULL		0.418	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	protein_coding	OTTHUMT00000048249.2	A	NM_004241		64637174	-1	no_errors	NM_032776.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	64967168	A	G	64967168	3	3	51	1	0	0	0	0	1	0	0	0	7950	333	12	3	3429	3	JMJD1C	10	64967168	Missense_Mutation	SNP	A	TCGA-AB-2857-03B-01W-0728-08		64967168	70567579	5	525											
LRIT1	26103	genome.wustl.edu	37	10	85994070	85994070	+	Silent	SNP	G	G	A			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr10:85994070G>A	ENST00000372105.3	-	3	675	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	218	LRRCT.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TTGGGGCCCAGCCATCCAAAA	0.532																																						dbGAP											0			10											87	89	88					10																	85994070		2203	4300	6503	85984050	SO:0001819	synonymous_variant	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.654C>T	10.37:g.85994070G>A		21	0	0					85984050	44	34.78	24	Q0QD41|Q9Y4N7	Silent	SNP	HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_ig,superfamily_SSF48726,superfamily_SSF52058	p.G218	ENST00000372105.3	37	c.654	CCDS7373.1	10																																																																																			-	HMMSmart_LRRCT,superfamily_SSF52058		0.532	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	protein_coding	OTTHUMT00000049109.1	G	NM_015613		85984050	-1	no_errors	NM_015613.2	genbank	human	validated	54_36p	silent	SNP	0.078	A	A	85994070	G	A	85994070	2	1	51	1	0	0	0	0	0	0	0	1	8947	958	34	2		2	LRIT1	10	85994070	Silent	SNP	G	TCGA-AB-2857-03B-01W-0728-08	21026902	85994070	49540677	6	526											
MICAL2	9645	genome.wustl.edu	37	11	12247813	12247813	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr11:12247813C>G	ENST00000256194.4	+	14	2072	c.1784C>G	c.(1783-1785)aCg>aGg	p.T595R	MICAL2_ENST00000537344.1_Missense_Mutation_p.T595R|MICAL2_ENST00000527546.1_Missense_Mutation_p.T595R|MICAL2_ENST00000342902.5_Missense_Mutation_p.T595R|MICAL2_ENST00000379612.3_Missense_Mutation_p.T595R	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	595	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CCAGTGACCACGGGCAAAGAG	0.547																																						dbGAP											0			11											135	123	127					11																	12247813		2201	4294	6495	12204389	SO:0001583	missense	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1784C>G	11.37:g.12247813C>G	ENSP00000256194:p.Thr595Arg	215	0	0		28	36.36	16	12204389	72	21.51	20	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	HMMPfam_CH,HMMSmart_SM00033,HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_FAD_binding_3,superfamily_Calponin-homology domain CH-domain,superfamily_FAD/NAD(P)-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.T595R	ENST00000256194.4	37	c.1784	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750482	0.89753	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71	5.28	5.28	0.74379	Calponin homology domain (5);	0.062767	0.64402	D	0.000008	D	0.96886	0.8983	M	0.74467	2.265	0.80722	D	1	P;B;B;B;B	0.36162	0.54;0.145;0.286;0.282;0.438	B;B;B;B;P	0.49665	0.281;0.172;0.409;0.396;0.618	D	0.97056	0.9767	10	0.59425	D	0.04	.	18.526	0.90973	0.0:1.0:0.0:0.0	.	595;595;595;595;595	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851	.;.;.;.;MICA2_HUMAN	R	595;128;595;595;595;595	ENSP00000441689:T595R;ENSP00000256194:T595R;ENSP00000433965:T595R;ENSP00000344894:T595R;ENSP00000368932:T595R	ENSP00000256194:T595R	T	+	2	0	MICAL2	12204389	1.000000	0.71417	0.968000	0.41197	0.895000	0.52256	7.818000	0.86416	2.466000	0.83321	0.563000	0.77884	ACG	-	HMMPfam_CH,HMMSmart_SM00033,superfamily_Calponin-homology domain CH-domain		0.547	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	protein_coding	OTTHUMT00000385993.1	C	NM_014632		12204389	1	no_errors	NM_014632.2	genbank	human	provisional	54_36p	missense	SNP	0.995	G	G	12247813	C	G	12247813	3	3	51	1	0	0	0	0	1	0	0	0	9570	536	19	4	1830	4	MICAL2	11	12247813	Missense_Mutation	SNP	C	TCGA-AB-2857-03B-01W-0728-08		12247813	122758703	7	527											
KRT75	9119	genome.wustl.edu	37	12	52827852	52827852	+	Silent	SNP	G	G	A			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr12:52827852G>A	ENST00000252245.5	-	1	457	c.237C>T	c.(235-237)agC>agT	p.S79S		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	79	Gly-rich.|Head.				hematopoietic progenitor cell differentiation (GO:0002244)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CACTTCGGCAGCTGCTGCCAC	0.617																																						dbGAP											0			12											60	65	63					12																	52827852		2202	4298	6500	51114119	SO:0001819	synonymous_variant	0			Y19212	CCDS8827.1	12q13.13	2013-06-25			ENSG00000170454	ENSG00000170454		"-", "Intermediate filaments type II, keratins (basic)"	24431	protein-coding gene	gene with protein product		609025				9856802, 10692104, 16831889	Standard	NM_004693		Approved	K6HF	uc001saj.2	O95678	OTTHUMG00000169592	ENST00000252245.5:c.237C>T	12.37:g.52827852G>A		111	0	0					51114119	63	25	21	B4DQU4|Q9NSA9	Silent	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.S79	ENST00000252245.5	37	c.237	CCDS8827.1	12																																																																																			-	NULL		0.617	KRT75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT75	protein_coding	OTTHUMT00000404968.1	G	NM_004693		51114119	-1	no_errors	NM_004693.2	genbank	human	reviewed	54_36p	silent	SNP	0.002	A	A	52827852	G	A	52827852	2	1	51	1	0	0	0	0	0	0	0	1	8488	962	34	2		2	KRT75	12	52827852	Silent	SNP	G	TCGA-AB-2857-03B-01W-0728-08		52827852	81024043	8	528											
MMP25	64386	genome.wustl.edu	37	16	3100421	3100421	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr16:3100421C>T	ENST00000336577.4	+	4	772	c.535C>T	c.(535-537)Cac>Tac	p.H179Y	RP11-473M20.7_ENST00000573130.1_RNA|MMP25_ENST00000570755.1_3'UTR|RP11-473M20.7_ENST00000576250.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	190					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	CCGCGCCTTCCACCAGGACAG	0.632																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)	dbGAP											0			16											49	46	47					16																	3100421		2197	4300	6497	3040422	SO:0001583	missense	0			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"matrix metalloproteinase 25", "matrix metallopeptidase-like 1"	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.535C>T	16.37:g.3100421C>T	ENSP00000337816:p.His179Tyr	122	0.81	1		10	23.08	3	3040422	28	27.5	11	Q96F04|Q96TE2	Missense_Mutation	SNP	superfamily_Hemopexin,HMMPfam_Peptidase_M10,PatternScan_CYSTEINE_SWITCH,HMMPfam_PG_binding_1,superfamily_PGBD_like,PatternScan_ZINC_PROTEASE,HMMSmart_ZnMc,PatternScan_HEMOPEXIN,HMMPfam_Hemopexin,HMMSmart_HX,superfamily_SSF55486	p.H179Y	ENST00000336577.4	37	c.535	CCDS10492.1	16	.	.	.	.	.	.	.	.	.	.	C	18.27	3.587581	0.66105	.	.	ENSG00000008516	ENST00000336577;ENST00000325800	T	0.27890	1.64	4.96	4.96	0.65561	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.51477	D	0.000089	T	0.69223	0.3087	H	0.97186	3.955	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81084	-0.1093	10	0.87932	D	0	.	15.6704	0.77270	0.0:1.0:0.0:0.0	.	103;179	O43923;Q9NPA2	.;MMP25_HUMAN	Y	179;106	ENSP00000337816:H179Y	ENSP00000324953:H106Y	H	+	1	0	MMP25	3040422	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.677000	0.84024	2.299000	0.77371	0.655000	0.94253	CAC	-	HMMPfam_Peptidase_M10,HMMSmart_ZnMc,superfamily_SSF55486		0.632	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	protein_coding	OTTHUMT00000437116.1	C	NM_022468		3040422	1	no_errors	NM_022468.4	genbank	human	reviewed	54_36p	missense	SNP	0.993	T	T	3100421	C	T	3100421	3	4	51	1	0	0	0	0	1	0	0	0	9662	594	21	2	549	2	MMP25	16	3100421	Missense_Mutation	SNP	C	TCGA-AB-2857-03B-01W-0728-08		3100421	87254332	9	529											
CDH16	1014	genome.wustl.edu	37	16	66945811	66945811	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr16:66945811C>T	ENST00000299752.4	-	13	1974	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	CDH16_ENST00000565796.1_Missense_Mutation_p.R594Q|CDH16_ENST00000570262.1_Missense_Mutation_p.R514Q|CDH16_ENST00000394055.3_Missense_Mutation_p.R594Q|CDH16_ENST00000568632.1_Missense_Mutation_p.R497Q	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTGAGGGTTCGGCTGATGGG	0.627																																						dbGAP											0			16											63	69	67					16																	66945811		2200	4300	6500	65503312	SO:0001583	missense	0			AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"Cadherins / Major cadherins"	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1781G>A	16.37:g.66945811C>T	ENSP00000299752:p.Arg594Gln	426	0.47	2		1	0	0	65503312	56	15.15	10	B4DPA8|H3BPD3|Q6UW93	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like	p.R594Q	ENST00000299752.4	37	c.1781	CCDS10823.1	16	.	.	.	.	.	.	.	.	.	.	C	1.327	-0.597775	0.03771	.	.	ENSG00000166589	ENST00000394055;ENST00000299752;ENST00000544875	T;T	0.69685	-0.42;0.13	5.5	-1.28	0.09318	Cadherin (3);Cadherin-like (1);	0.568324	0.19513	N	0.112474	T	0.29817	0.0745	N	0.11427	0.14	0.09310	N	1	P;P;P	0.40476	0.718;0.716;0.596	B;B;B	0.26770	0.073;0.05;0.033	T	0.41574	-0.9501	10	0.13108	T	0.6	-0.0789	4.91	0.13816	0.0:0.4202:0.15:0.4299	.	594;594;594	O75309-2;B2R7S8;O75309	.;.;CAD16_HUMAN	Q	594;594;558	ENSP00000377619:R594Q;ENSP00000299752:R594Q	ENSP00000299752:R594Q	R	-	2	0	CDH16	65503312	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.175000	0.09825	0.114000	0.18032	-0.291000	0.09656	CGA	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.627	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH16	protein_coding	OTTHUMT00000268839.2	C	NM_004062		65503312	-1	no_errors	NM_004062.2	genbank	human	reviewed	54_36p	missense	SNP	0.023	T	T	66945811	C	T	66945811	3	4	51	1	0	0	0	0	1	0	0	0	3101	884	31	1	732	1	CDH16	16	66945811	Missense_Mutation	SNP	C	TCGA-AB-2857-03B-01W-0728-08	63845390	66945811	23408942	10	530											
COX10	1352	genome.wustl.edu	37	17	14110287	14110287	+	Silent	SNP	C	C	T			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr17:14110287C>T	ENST00000261643.3	+	7	1166	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	COX10_ENST00000537334.1_Silent_p.A146A|COX10_ENST00000536205.1_Silent_p.A171A	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	363					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ACTGCCTGGCCCTGCTCGTGC	0.667																																						dbGAP											0			17											91	77	82					17																	14110287		2203	4300	6503	14051012	SO:0001819	synonymous_variant	0			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"Mitochondrial respiratory chain complex assembly factors"	2260	protein-coding gene	gene with protein product	"heme A: farnesyltransferase", "protoheme IX farnesyltransferase, mitochondrial", "heme O synthase"	602125	"COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)", "COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.1089C>T	17.37:g.14110287C>T		42	0	0		4	60	6	14051012	20	44.44	16	B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	HMMPfam_UbiA,PatternScan_UBIA	p.A363	ENST00000261643.3	37	c.1089	CCDS11166.1	17																																																																																			-	HMMPfam_UbiA		0.667	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	protein_coding	OTTHUMT00000130003.1	C	NM_001303		14051012	1	no_errors	NM_001303.3	genbank	human	reviewed	54_36p	silent	SNP	0.993	T	T	14110287	C	T	14110287	2	4	51	1	0	0	0	0	0	0	0	1	3762	610	22	2		2	COX10	17	14110287	Silent	SNP	C	TCGA-AB-2857-03B-01W-0728-08		14110287	67084923	11	531											
KRT37	8688	genome.wustl.edu	37	17	39577726	39577726	+	Silent	SNP	G	G	A			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr17:39577726G>A	ENST00000225550.3	-	6	1133	c.1134C>T	c.(1132-1134)gcC>gcT	p.A378A	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	378	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCTCCAGGTCGGCCCGGATCT	0.597																																						dbGAP											0			17											75	67	70					17																	39577726		2203	4300	6503	36831252	SO:0001819	synonymous_variant	0			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"-", "Intermediate filaments type I, keratins (acidic)"	6455	protein-coding gene	gene with protein product		604541	"keratin, hair, acidic, 7"	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.1134C>T	17.37:g.39577726G>A		105	0	0					36831252	147	12.94	22		Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.A378	ENST00000225550.3	37	c.1134	CCDS32653.1	17																																																																																			-	HMMPfam_Filament		0.597	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	protein_coding	OTTHUMT00000257714.2	G	NM_003770		36831252	-1	no_errors	NM_003770.4	genbank	human	reviewed	54_36p	silent	SNP	0.997	A	A	39577726	G	A	39577726	2	1	51	1	0	0	0	0	0	0	0	1	8474	1103	39	1		1	KRT37	17	39577726	Silent	SNP	G	TCGA-AB-2857-03B-01W-0728-08	25467439	39577726	41617484	12	532											
ZNF473	25888	genome.wustl.edu	37	19	50549971	50549971	+	Silent	SNP	T	T	G			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr19:50549971T>G	ENST00000595661.1	+	6	2766	c.2271T>G	c.(2269-2271)ccT>ccG	p.P757P	ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000270617.3_Silent_p.P757P|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.P745P|ZNF473_ENST00000391821.2_Silent_p.P757P			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	757					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAGAAAAGCCTTATGTTTGTC	0.517											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			19											78	79	79					19																	50549971		2203	4300	6503	55241783	SO:0001819	synonymous_variant	0			AB032967	CCDS33077.1	19q13.33	2013-01-08						"Zinc fingers, C2H2-type", "-"	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2271T>G	19.37:g.50549971T>G		483	0	0	970	10	50	10	55241783	142	18.86	33	A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.P757	ENST00000595661.1	37	c.2271	CCDS33077.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers		0.517	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	protein_coding	OTTHUMT00000464833.1	T	XM_046390		55241783	1	no_errors	NM_001006656.1	genbank	human	validated	54_36p	silent	SNP	0.001	G	G	50549971	T	G	50549971	2	3	51	1	0	0	0	0	0	0	0	1	17928	1596	56	5		5	ZNF473	19	50549971	Silent	SNP	T	TCGA-AB-2857-03B-01W-0728-08		50549971	8579012	13	533											
BACH1	571	genome.wustl.edu	37	21	30714966	30714966	+	Silent	SNP	C	C	A			TCGA-AB-2857-03B-01W-0728-08	TCGA-AB-2857-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	44964375-c1fd-44e2-a9a1-e1adfb712b91	b03885b4-e42c-4126-a847-29b1eda5f527	g.chr21:30714966C>A	ENST00000399921.1	+	5	2266	c.2023C>A	c.(2023-2025)Cgg>Agg	p.R675R	BACH1_ENST00000286800.3_Silent_p.R675R	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTTATCTGACCGGCCTCCAGC	0.512																																						dbGAP											0			21											64	70	68					21																	30714966		2203	4300	6503	29636837	SO:0001819	synonymous_variant	0			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"BTB/POZ domain containing", "basic leucine zipper proteins"	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.2023C>A	21.37:g.30714966C>A		90	0	0		20	42.86	15	29636837	104	31.61	49	Q3MJE2|Q8NCI5	Silent	SNP	HMMSmart_SM00225,HMMSmart_SM00338,PatternScan_BZIP_BASIC,superfamily_A DNA-binding domain in eukaryotic transcription factors,superfamily_POZ domain,HMMPfam_bZIP_1,HMMPfam_BTB	p.R675	ENST00000399921.1	37	c.2023	CCDS13585.1	21																																																																																			-	NULL		0.512	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BACH1	protein_coding	OTTHUMT00000171974.1	C	NM_206866		29636837	1	no_errors	NM_001186.1	genbank	human	reviewed	54_36p	silent	SNP	0.016	A	A	30714966	C	A	30714966	2	1	51	1	0	0	0	0	0	0	0	1	1283	643	23	4		4	BACH1	21	30714966	Silent	SNP	C	TCGA-AB-2857-03B-01W-0728-08		30714966	17414929	14	534											
GBP4	115361	genome.wustl.edu	37	1	89652701	89652701	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr1:89652701C>T	ENST00000355754.6	-	9	1592	c.1495G>A	c.(1495-1497)Gga>Aga	p.G499R	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	499						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCCTTCTCTCCAGCAGTGAGG	0.517																																						dbGAP											0			1											127	107	114					1																	89652701		2203	4300	6503	89425289	SO:0001583	missense	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1495G>A	1.37:g.89652701C>T	ENSP00000359490:p.Gly499Arg	194	3.96	8		19	52.5	21	89425289	161	32.64	78	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540	p.G499R	ENST00000355754.6	37	c.1495	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	C	9.599	1.128273	0.21041	.	.	ENSG00000162654	ENST00000355754	T	0.01981	4.52	4.3	-4.43	0.03568	Guanylate-binding protein, C-terminal (3);	0.874412	0.10184	N	0.705459	T	0.00637	0.0021	L	0.43598	1.365	0.09310	N	1	B	0.20459	0.045	B	0.29598	0.104	T	0.45556	-0.9253	10	0.13853	T	0.58	.	6.074	0.19905	0.0:0.2469:0.2525:0.5006	.	499	Q96PP9	GBP4_HUMAN	R	499	ENSP00000359490:G499R	ENSP00000359490:G499R	G	-	1	0	GBP4	89425289	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-3.556000	0.00432	-0.648000	0.05437	-1.077000	0.02231	GGA	-	HMMPfam_GBP_C,superfamily_GBP		0.517	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	protein_coding	OTTHUMT00000029409.1	C	NM_052941		89425289	-1	no_errors	NM_052941.4	genbank	human	validated	54_36p	missense	SNP	0.001	T	T	89652701	C	T	89652701	3	4	52	1	0	0	0	0	1	0	0	0	6276	603	21	2	439	2	GBP4	1	89652701	Missense_Mutation	SNP	C	TCGA-AB-2858-03D-01W-0755-09		89652701	159597920	1	535											
CORIN	10699	genome.wustl.edu	37	4	47667068	47667068	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr4:47667068C>T	ENST00000273857.4	-	11	1569	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	CORIN_ENST00000504584.1_Missense_Mutation_p.E487K|CORIN_ENST00000508498.1_Missense_Mutation_p.E385K|CORIN_ENST00000502252.1_Missense_Mutation_p.E457K|CORIN_ENST00000505909.1_Missense_Mutation_p.E487K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	524	FZ 2. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GGGATATGCTCGCCTGTATTC	0.423																																						dbGAP											0			4											79	80	79					4																	47667068		2203	4300	6503	47361825	SO:0001583	missense	0			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"Serine peptidases / Transmembrane"	19012	protein-coding gene	gene with protein product		605236	"corin, serine protease"			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.1570G>A	4.37:g.47667068C>T	ENSP00000273857:p.Glu524Lys	148	3.25	5					47361825	72	33.94	37	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	superfamily_Frizzled cysteine-rich domain,PatternScan_SRCR_1,HMMPfam_Trypsin,HMMSmart_SM00020,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,superfamily_Trypsin-like serine proteases,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_TRYPSIN_SER,HMMPfam_Fz,HMMSmart_SM00063	p.E524K	ENST00000273857.4	37	c.1570	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	G	13.90	2.373989	0.42105	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.25	4.41	0.53225	Frizzled domain (5);	0.313155	0.31323	N	0.007846	T	0.48466	0.1501	N	0.04705	-0.18	0.09310	N	0.999997	B;B;P;B	0.38551	0.216;0.139;0.636;0.027	B;B;B;B	0.31495	0.025;0.028;0.131;0.032	T	0.44574	-0.9319	10	0.06757	T	0.87	.	16.0173	0.80450	0.0:0.254:0.746:0.0	.	487;487;457;524	B7Z4R1;B4E2W9;B4E1Y7;Q9Y5Q5	.;.;.;CORIN_HUMAN	K	524;385;457;487;487	ENSP00000273857:E524K;ENSP00000425597:E385K;ENSP00000424212:E457K;ENSP00000425401:E487K;ENSP00000423216:E487K	ENSP00000273857:E524K	E	-	1	0	CORIN	47361825	1.000000	0.71417	0.054000	0.19295	0.006000	0.05464	5.577000	0.67444	0.804000	0.34136	-0.780000	0.03373	GAG	-	superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063		0.423	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	protein_coding	OTTHUMT00000216906.2	C			47361825	-1	no_errors	NM_006587.2	genbank	human	reviewed	54_36p	missense	SNP	0.119	T	T	47667068	C	T	47667068	3	4	52	1	0	0	0	0	1	0	0	0	3752	893	31	1	1606	1	CORIN	4	47667068	Missense_Mutation	SNP	C	TCGA-AB-2858-03D-01W-0755-09		47667068	143487208	2	536											
RAPGEF2	9693	genome.wustl.edu	37	4	160243597	160243597	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr4:160243597G>T	ENST00000264431.4	+	4	888	c.469G>T	c.(469-471)Gaa>Taa	p.E157*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	157					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCAGTGGTGGAAAGAGCAGG	0.413																																						dbGAP											0			4											108	106	107					4																	160243597		2008	4192	6200	160463047	SO:0001587	stop_gained	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"Rap GEP"	609530	"PDZ domain containing guanine nucleotide exchange factor (GEF) 1"	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.469G>T	4.37:g.160243597G>T	ENSP00000264431:p.Glu157*	163	3.49	6		4	55.56	5	160463047	164	29.61	69	D3DP27	Nonsense_Mutation	SNP	HMMPfam_RA,HMMSmart_RA,HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_RasGEF_N,HMMSmart_RasGEFN,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_RasGEF,HMMSmart_RasGEF,superfamily_Ras_GEF,superfamily_cNMP_binding	p.E157*	ENST00000264431.4	37	c.469	CCDS43277.1	4	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928461	0.73327	.	.	ENSG00000109756	ENST00000511336;ENST00000510510;ENST00000264431;ENST00000514565	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3811	0.87405	0.0:0.0:1.0:0.0	.	.	.	.	X	85;155;157;138	.	.	E	+	1	0	RAPGEF2	160463047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.809000	0.99208	2.162000	0.67917	0.591000	0.81541	GAA	-	HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding		0.413	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	protein_coding	OTTHUMT00000364980.2	G	NM_014247		160463047	1	no_errors	NM_014247.2	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	160243597	G	T	160243597	4	4	52	1	0	0	0	0	0	1	0	0	13044	1175	41	4	483	4	RAPGEF2	4	160243597	Nonsense_Mutation	SNP	G	TCGA-AB-2858-03D-01W-0755-09	112576529	160243597	30910679	3	537											
PCDHB9	56126	genome.wustl.edu	37	5	140569138	140569138	+	5'Flank	SNP	C	C	T			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr5:140569138C>T	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCAGAGCTACCAGTACGAGG	0.632																																						dbGAP											0			5											103	120	114					5																	140569138		2203	4300	6503	140549322	SO:0001631	upstream_gene_variant	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"Cadherins / Protocadherins : Clustered"	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569138C>T	Exception_encountered	79	4.82	4					140549322	74	28.16	29	Q96T99	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.T749I	ENST00000239446.4	37	c.2246	CCDS4252.1	5																																																																																			-	NULL		0.632	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB9	protein_coding	OTTHUMT00000251821.1	C	NM_018930		140549322	1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_019119.3	genbank	human	reviewed	54_36p	missense	SNP	0.141	T	T	140569138	C	T	140569138	1	4	52	0	1	0	0	0	0	0	0	0	11549	507	18	2		2	PCDHB9	5	140569138	5'Flank	SNP	C	TCGA-AB-2858-03D-01W-0755-09		140569138	40346122	4	538											
ZSCAN21	7589	genome.wustl.edu	37	7	99654638	99654638	+	Silent	SNP	C	C	T			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr7:99654638C>T	ENST00000292450.4	+	2	173	c.9C>T	c.(7-9)acC>acT	p.T3T	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Silent_p.T3T|ZSCAN21_ENST00000456748.2_Silent_p.T3T	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	3					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACATGATGACCAAGGTACTAG	0.517																																						dbGAP											0			7											159	174	169					7																	99654638		2203	4300	6503	99492574	SO:0001819	synonymous_variant	0			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"-", "Zinc fingers, C2H2-type"	13104	protein-coding gene	gene with protein product		601261	"zinc finger protein 38 (KOX 25)", "zinc finger protein 38"	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.9C>T	7.37:g.99654638C>T		50	3.7	2		4	60	6	99492574	80	21.36	22	A4D2A6|D6W5T9|Q9H0B5	Silent	SNP	HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.T3	ENST00000292450.4	37	c.9	CCDS5681.1	7																																																																																			-	NULL		0.517	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN21	protein_coding	OTTHUMT00000336166.1	C	NM_145914		99492574	1	no_errors	NM_145914.2	genbank	human	validated	54_36p	silent	SNP	0.942	T	T	99654638	C	T	99654638	2	4	52	1	0	0	0	0	0	0	0	1	18230	581	21	2		2	ZSCAN21	7	99654638	Silent	SNP	C	TCGA-AB-2858-03D-01W-0755-09		99654638	59484025	5	539											
DNAI1	27019	genome.wustl.edu	37	9	34514416	34514416	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr9:34514416T>C	ENST00000242317.4	+	17	1765	c.1594T>C	c.(1594-1596)Ttc>Ctc	p.F532L		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	532					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CTCCAGCCAATTCCTCGACAC	0.567									Kartagener syndrome																													dbGAP											0			9											169	153	158					9																	34514416		2203	4300	6503	34504416	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"Axonemal dyneins", "WD repeat domain containing"	2954	protein-coding gene	gene with protein product		604366	"dynein, axonemal, intermediate polypeptide 1"			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1594T>C	9.37:g.34514416T>C	ENSP00000242317:p.Phe532Leu	65	2.99	2					34504416	84	34.38	44	B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.F532L	ENST00000242317.4	37	c.1594	CCDS6557.1	9	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579522	0.65878	.	.	ENSG00000122735	ENST00000379040;ENST00000242317	T	0.68331	-0.32	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.168180	0.53938	D	0.000060	T	0.47875	0.1469	N	0.10760	0.04	0.80722	D	1	B	0.09022	0.002	B	0.21151	0.033	T	0.48186	-0.9057	10	0.66056	D	0.02	.	11.9408	0.52899	0.0:0.0:0.0:1.0	.	532	Q9UI46	DNAI1_HUMAN	L	88;532	ENSP00000242317:F532L	ENSP00000242317:F532L	F	+	1	0	DNAI1	34504416	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.077000	0.64419	2.072000	0.62099	0.459000	0.35465	TTC	-	HMMSmart_WD40,superfamily_WD40_like,HMMPfam_WD40		0.567	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAI1	protein_coding	OTTHUMT00000052192.1	T			34504416	1	no_errors	NM_012144.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	34514416	T	C	34514416	3	2	52	1	0	0	0	0	1	0	0	0	4609	1493	52	3	1660	3	DNAI1	9	34514416	Missense_Mutation	SNP	T	TCGA-AB-2858-03D-01W-0755-09		34514416	106699015	6	540											
PRF1	5551	genome.wustl.edu	37	10	72360182	72360182	+	Silent	SNP	G	G	A	rs139175805		TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr10:72360182G>A	ENST00000441259.1	-	2	637	c.477C>T	c.(475-477)gcC>gcT	p.A159A	PRF1_ENST00000373209.2_Silent_p.A159A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	159	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)	p.Q160K(1)|p.A159A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGGTCTTCTGGGCTGCAAAGT	0.612			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													dbGAP	yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)	10											82	71	75					10																	72360182		2203	4300	6503	72030188	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"Perforin", "perforin 1 (preforming protein)"	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.477C>T	10.37:g.72360182G>A		106	4.46	5		16	0	0	72030188	189	34.15	98	B2R6X4|Q59F57|Q86WX7	Silent	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_MACPF,HMMSmart_SM00457,PatternScan_MAC_PERFORIN,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.A159	ENST00000441259.1	37	c.477	CCDS7305.1	10																																																																																			-	HMMPfam_MACPF		0.612	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	protein_coding	OTTHUMT00000048517.2	G	NM_005041		72030188	-1	no_errors	NM_001083116.1	genbank	human	reviewed	54_36p	silent	SNP	0.008	A	A	72360182	G	A	72360182	2	1	52	1	0	0	0	0	0	0	0	1	12478	1219	43	2		2	PRF1	10	72360182	Silent	SNP	G	TCGA-AB-2858-03D-01W-0755-09		72360182	63174565	7	541											
WAPAL	23063	genome.wustl.edu	37	10	88277746	88277746	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr10:88277746T>G	ENST00000298767.5	-	2	553	c.81A>C	c.(79-81)aaA>aaC	p.K27N		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	27	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGGTAGTCCGTTTGTTGGAAA	0.398																																						dbGAP											0			10											87	83	84					10																	88277746		2203	4300	6503	88267726	SO:0001583	missense	0			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"friend of EBNA2"	610754	"KIAA0261"	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.81A>C	10.37:g.88277746T>G	ENSP00000298767:p.Lys27Asn	118	3.23	4		47	40.51	32	88267726	116	35.56	64	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	HMMPfam_WAPL,superfamily_ARM repeat	p.K27N	ENST00000298767.5	37	c.81	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616699	0.87359	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.39056	1.1	5.41	5.41	0.78517	.	0.064020	0.64402	D	0.000011	T	0.61299	0.2336	L	0.58101	1.795	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.999	D;P;P;D	0.76575	0.988;0.888;0.888;0.964	T	0.64757	-0.6332	10	0.87932	D	0	.	15.4453	0.75225	0.0:0.0:0.0:1.0	.	112;27;27;70	Q7Z5K2-3;B2RTX8;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	N	112;27;112	ENSP00000298767:K27N	ENSP00000298767:K27N	K	-	3	2	WAPAL	88267726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.067000	0.41461	2.062000	0.61559	0.528000	0.53228	AAA	-	NULL		0.398	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	protein_coding	OTTHUMT00000049151.2	T	NM_015045		88267726	-1	no_errors	NM_015045.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	88277746	T	G	88277746	3	3	52	1	0	0	0	0	1	0	0	0	17245	1722	60	5	3563	5	WAPAL	10	88277746	Missense_Mutation	SNP	T	TCGA-AB-2858-03D-01W-0755-09	15917564	88277746	47257001	8	542											
GRIK4	2900	genome.wustl.edu	37	11	120833249	120833249	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr11:120833249G>A	ENST00000527524.2	+	18	2412	c.2125G>A	c.(2125-2127)Gga>Aga	p.G709R	GRIK4_ENST00000438375.2_Missense_Mutation_p.G709R	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	709					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CACAGAGGAGGGAATCGCCAG	0.512																																						dbGAP											0			11											85	76	79					11																	120833249		2203	4299	6502	120338459	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2125G>A	11.37:g.120833249G>A	ENSP00000435648:p.Gly709Arg	56	0	0		1	0	0	120338459	44	29.03	18	A8K9L1	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850	p.G709R	ENST00000527524.2	37	c.2125	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	G	34	5.395251	0.96009	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.13089	2.62;2.62	5.69	5.69	0.88448	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.65487	-0.6156	10	0.87932	D	0	.	19.3996	0.94623	0.0:0.0:1.0:0.0	.	709;709	A6H8K8;Q16099	.;GRIK4_HUMAN	R	709	ENSP00000435648:G709R;ENSP00000404063:G709R	ENSP00000404063:G709R	G	+	1	0	GRIK4	120338459	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.869000	0.99810	2.676000	0.91093	0.655000	0.94253	GGA	-	HMMPfam_Lig_chan,HMMSmart_PBPe,superfamily_SSF53850		0.512	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	protein_coding	OTTHUMT00000109760.4	G	NM_014619		120338459	1	no_errors	NM_014619.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	120833249	G	A	120833249	3	1	52	1	0	0	0	0	1	0	0	0	6776	1233	43	2	2187	2	GRIK4	11	120833249	Missense_Mutation	SNP	G	TCGA-AB-2858-03D-01W-0755-09		120833249	14173267	9	543											
C12orf63	144535	genome.wustl.edu	37	12	97150340	97150340	+	Splice_Site	SNP	G	G	A			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr12:97150340G>A	ENST00000524981.4	+	57	7968	c.7945G>A	c.(7945-7947)Gga>Aga	p.G2649R				Q96N23	CL055_HUMAN		0								p.G1074*(1)									TCAAAACTCAGGGTAAAAAGA	0.388																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)	12											86	96	93					12																	97150340		2201	4299	6500	95674471	SO:0001630	splice_region_variant	0																														ENST00000524981.4:c.7946+1G>A	12.37:g.97150340G>A		227	5.31	13					95674471	181	26.72	66		Missense_Mutation	SNP	NULL	p.G1074R	ENST00000524981.4	37	c.3220		12	.	.	.	.	.	.	.	.	.	.	G	16.05	3.011683	0.54468	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.4	4.51	0.55191	.	0.307999	0.27976	N	0.017088	T	0.56834	0.2012	M	0.62723	1.935	0.33493	D	0.588895	B	0.27498	0.18	B	0.31442	0.13	T	0.69060	-0.5245	9	0.72032	D	0.01	-6.553	12.5518	0.56231	0.0772:0.0:0.9228:0.0	.	1074	Q6ZTY8	CL063_HUMAN	R	2649;1074	.	ENSP00000345466:G1074R	G	+	1	0	C12orf63	95674471	1.000000	0.71417	0.911000	0.35937	0.351000	0.29236	3.212000	0.51145	1.427000	0.47276	0.650000	0.86243	GGA	-	NULL		0.388	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf63	protein_coding	OTTHUMT00000395046.4	G		Missense_Mutation	95674471	1	no_errors	NM_198520.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	97150340	G	A	97150340	5	1	52	1	0	0	0	0	0	0	1	0	1706	1014	35	2	3310	2	C12orf63	12	97150340	Splice_Site	SNP	G	TCGA-AB-2858-03D-01W-0755-09		97150340	36701555	10	544											
SLTM	79811	genome.wustl.edu	37	15	59179602	59179602	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr15:59179602A>G	ENST00000380516.2	-	18	2600	c.2513T>C	c.(2512-2514)cTt>cCt	p.L838P	SLTM_ENST00000536328.1_Missense_Mutation_p.L407P|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	838	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGATTCTCTAAGTTCATTTCT	0.473																																						dbGAP											0			15											257	224	235					15																	59179602		2192	4292	6484	56966894	SO:0001583	missense	0			BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"RNA binding motif (RRM) containing"	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2513T>C	15.37:g.59179602A>G	ENSP00000369887:p.Leu838Pro	250	3.08	8		125	39.61	82	56966894	234	32.76	114	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SAP,HMMSmart_SAP,superfamily_SSF54928,superfamily_SSF68906	p.L838P	ENST00000380516.2	37	c.2513	CCDS10168.2	15	.	.	.	.	.	.	.	.	.	.	A	21.2	4.117018	0.77323	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328	T	0.13420	2.59	5.68	5.68	0.88126	.	0.000000	0.49916	D	0.000125	T	0.20700	0.0498	L	0.50333	1.59	0.80722	D	1	P;B	0.44044	0.825;0.2	P;B	0.46479	0.518;0.128	T	0.00717	-1.1596	10	0.35671	T	0.21	.	15.9384	0.79734	1.0:0.0:0.0:0.0	.	838;407	Q9NWH9;A8K5V8	SLTM_HUMAN;.	P	838;404;407	ENSP00000369887:L838P	ENSP00000369887:L838P	L	-	2	0	SLTM	56966894	1.000000	0.71417	0.997000	0.53966	0.919000	0.55068	6.375000	0.73137	2.159000	0.67721	0.460000	0.39030	CTT	-	NULL		0.473	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLTM	protein_coding	OTTHUMT00000157124.1	A	NM_024755		56966894	-1	no_errors	NM_024755.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	59179602	A	G	59179602	3	3	52	1	0	0	0	0	1	0	0	0	14754	72	3	3	607	3	SLTM	15	59179602	Missense_Mutation	SNP	A	TCGA-AB-2858-03D-01W-0755-09		59179602	43351790	11	545											
CACNG4	27092	genome.wustl.edu	37	17	65026862	65026862	+	Silent	SNP	C	C	T			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chr17:65026862C>T	ENST00000262138.3	+	4	728	c.726C>T	c.(724-726)cgC>cgT	p.R242R	AC005544.1_ENST00000375684.1_5'Flank|RP11-74H8.1_ENST00000579138.1_RNA	NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	242					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GGCGACGGCGCTCGAGGTCCA	0.587																																						dbGAP											0			17											64	67	66					17																	65026862		2203	4300	6503	62457324	SO:0001819	synonymous_variant	0			AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"Calcium channel subunits"	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.726C>T	17.37:g.65026862C>T		244	2.76	7					62457324	206	29.93	88	B2RCK0	Silent	SNP	HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN	p.R242	ENST00000262138.3	37	c.726	CCDS11667.1	17																																																																																			-	NULL		0.587	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG4	protein_coding	OTTHUMT00000447036.1	C	NM_014405		62457324	1	no_errors	NM_014405.2	genbank	human	reviewed	54_36p	silent	SNP	0.999	T	T	65026862	C	T	65026862	2	4	52	1	0	0	0	0	0	0	0	1	2559	784	28	2		2	CACNG4	17	65026862	Silent	SNP	C	TCGA-AB-2858-03D-01W-0755-09		65026862	16168348	12	546											
SMC1A	8243	genome.wustl.edu	37	X	53409232	53409232	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2858-03D-01W-0755-09	TCGA-AB-2858-12A-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b9dcb0aa-0098-49a9-a0c8-790a06dadea8	d964bbe3-75e8-47d6-a495-505ff49b9f2b	g.chrX:53409232T>C	ENST00000322213.4	-	22	3485	c.3358A>G	c.(3358-3360)Aaa>Gaa	p.K1120E	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1120					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CGGAAGCGTTTCCCAGGAGCC	0.582																																						dbGAP											0			X											77	57	64					X																	53409232		2203	4300	6503	53425957	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3358A>G	X.37:g.53409232T>C	ENSP00000323421:p.Lys1120Glu	117	3.31	4		34	64.58	62	53425957	87	32.56	42	O14995|Q16351|Q2M228	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540	p.K1120E	ENST00000322213.4	37	c.3358	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	T	24.0	4.476658	0.84640	.	.	ENSG00000072501	ENST00000322213	D	0.91351	-2.83	5.04	5.04	0.67666	RecF/RecN/SMC (1);	0.062114	0.64402	D	0.000007	D	0.96417	0.8831	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97280	0.9917	10	0.87932	D	0	.	13.1063	0.59249	0.0:0.0:0.0:1.0	.	1120	Q14683	SMC1A_HUMAN	E	1120	ENSP00000323421:K1120E	ENSP00000323421:K1120E	K	-	1	0	SMC1A	53425957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	1.804000	0.52760	0.486000	0.48141	AAA	-	HMMPfam_SMC_N,superfamily_SSF52540		0.582	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	T	NM_006306		53425957	-1	no_errors	NM_006306.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	53409232	T	C	53409232	3	2	52	1	0	0	0	0	1	0	0	0	14781	1792	62	3	359	3	SMC1A	23	53409232	Missense_Mutation	SNP	T	TCGA-AB-2858-03D-01W-0755-09		53409232	101861328	13	547											
C1orf183	55924	genome.wustl.edu	37	1	112270297	112270297	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr1:112270297C>T	ENST00000357260.5	-	2	368	c.187G>A	c.(187-189)Gtg>Atg	p.V63M	FAM212B_ENST00000444059.2_Missense_Mutation_p.V48M|FAM212B_ENST00000534365.1_Missense_Mutation_p.V63M	NM_019099.4	NP_061972.1	Q9NTI7	F212B_HUMAN	family with sequence similarity 212, member B	63										cervix(1)|endometrium(1)	2						CTGCCTGGCACAGGACCCCCT	0.607																																						dbGAP											0			1											80	80	80					1																	112270297		2203	4300	6503	112071820	SO:0001583	missense	0			AK055667	CCDS841.1, CCDS44195.1	1p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000197852	ENSG00000197852			28045	protein-coding gene	gene with protein product			"chromosome 1 open reading frame 183"	C1orf183			Standard	NM_019099		Approved	FLJ31105	uc001ebo.2	Q9NTI7	OTTHUMG00000011953	ENST00000357260.5:c.187G>A	1.37:g.112270297C>T	ENSP00000349805:p.Val63Met	248	0.8	2		1	75	3	112071820	539	37.1	325	B3KP38|B4DF94|Q9NTI6	Missense_Mutation	SNP	NULL	p.V63M	ENST00000357260.5	37	c.187	CCDS841.1	1	.	.	.	.	.	.	.	.	.	.	C	2.462	-0.323961	0.05350	.	.	ENSG00000197852	ENST00000357260;ENST00000534365;ENST00000444059;ENST00000527621	.	.	.	5.03	3.13	0.36017	.	0.790668	0.12052	N	0.503974	T	0.07638	0.0192	N	0.08118	0	0.09310	N	1	B;B	0.28584	0.216;0.071	B;B	0.30572	0.117;0.117	T	0.31475	-0.9942	9	0.46703	T	0.11	-11.628	7.822	0.29292	0.0:0.7241:0.0:0.2759	.	48;63	Q9NTI7-2;Q9NTI7	.;CA183_HUMAN	M	63;63;48;72	.	ENSP00000349805:V63M	V	-	1	0	C1orf183	112071820	0.139000	0.22563	0.012000	0.15200	0.033000	0.12548	3.578000	0.53892	0.482000	0.27582	0.491000	0.48974	GTG	-	NULL		0.607	FAM212B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C1orf183	protein_coding	OTTHUMT00000033060.2	C	NM_019099		112071820	-1	no_errors	NM_019099.3	genbank	human	validated	54_36p	missense	SNP	0.002	T	T	112270297	C	T	112270297	3	4	53	1	0	0	0	0	1	0	0	0	2019	478	17	2	710	2	C1orf183	1	112270297	Missense_Mutation	SNP	C	TCGA-AB-2859-03B-01W-0728-08		112270297	136980324	1	548											
FAM58B	339521	genome.wustl.edu	37	1	200183058	200183058	+	IGR	SNP	G	G	A			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr1:200183058G>A								NR5A2 (36506 upstream) : RP11-532L16.3 (101504 downstream)																							GGAGCTCCGGGACAGCATTGT	0.572																																						dbGAP											0			1											79	83	81					1																	200183058		2203	4300	6503	198449681	SO:0001628	intergenic_variant	0																															1.37:g.200183058G>A		108	0	0					198449681	505	32.33	246		Missense_Mutation	SNP	HMMSmart_CYCLIN,PatternScan_CYCLINS,superfamily_Cyclin_like	p.D123N		37	c.367		1																																																																																			-	HMMSmart_CYCLIN,superfamily_Cyclin_like	0	0.572					FAM58B			G			198449681	1	no_errors	NM_001105517.1	genbank	human	inferred	54_36p	missense	SNP	1.000	A	A	200183058	G	A	200183058	1	1	53	0	1	0	0	0	0	0	0	0	5591	1174	41	2		2	FAM58B	1	200183058	IGR	SNP	G	TCGA-AB-2859-03B-01W-0728-08	87912761	200183058	49067563	2	549											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	121	2.42	3		33	50.75	34	25310746	169	35.61	94	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	53	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2859-03B-01W-0728-08		25457242	217742131	3	550											
PRDM9	56979	genome.wustl.edu	37	5	23526786	23526786	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr5:23526786G>A	ENST00000296682.3	+	11	1771	c.1589G>A	c.(1588-1590)gGa>gAa	p.G530E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	530					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGAGTGTGGACAAGGTTTC	0.473										HNSCC(3;0.000094)																												dbGAP											0			5											106	109	108					5																	23526786		2106	4263	6369	23562543	SO:0001583	missense	0			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"-", "Zinc fingers, C2H2-type"	13994	protein-coding gene	gene with protein product	"PR-domain containing protein 9"	609760	"minisatellite binding protein 3, 115kDa", "minisatellite binding protein 3 (115kD)"	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1589G>A	5.37:g.23526786G>A	ENSP00000296682:p.Gly530Glu	144	0	0					23562543	369	33.87	191	B4DX22|Q27Q50	Missense_Mutation	SNP	HMMSmart_SET,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_SSXRD,superfamily_SSF57667,superfamily_SSF82199	p.G530E	ENST00000296682.3	37	c.1589	CCDS43307.1	5	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539446	0.45176	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.34859	1.34	2.53	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.893248	0.09267	N	0.825708	T	0.29749	0.0743	L	0.31752	0.955	0.37806	D	0.927886	D	0.55385	0.971	P	0.45428	0.48	T	0.21586	-1.0241	10	0.54805	T	0.06	-2.6514	8.2322	0.31605	0.0:0.0:0.7602:0.2398	.	530	Q9NQV7	PRDM9_HUMAN	E	530;324	ENSP00000296682:G530E	ENSP00000253473:G324E	G	+	2	0	PRDM9	23562543	0.198000	0.23374	0.002000	0.10522	0.029000	0.11900	0.874000	0.28065	0.529000	0.28599	0.400000	0.26472	GGA	-	HMMSmart_ZnF_C2H2		0.473	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM9	protein_coding	OTTHUMT00000366375.1	G	NM_020227		23562543	1	no_errors	NM_020227.2	genbank	human	provisional	54_36p	missense	SNP	0.974	A	A	23526786	G	A	23526786	3	1	53	1	0	0	0	0	1	0	0	0	12463	1174	41	2	1627	2	PRDM9	5	23526786	Missense_Mutation	SNP	G	TCGA-AB-2859-03B-01W-0728-08		23526786	157388474	4	551											
NPM1	4869	genome.wustl.edu	37	5	170837545	170837546	+	Frame_Shift_Ins	INS	-	-	CTGC			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	-	-	-	CTGC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr5:170837545_170837546insCTGC	ENST00000296930.5	+	11	1162_1163	c.861_862insCTGC	c.(862-864)tggfs	p.W288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.W259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.W288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(12)|p.W288fs*>9(2)|p.W288fs*10(2)|p.L287F(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCAAGATCTCTGGCAGTGGAG	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	17	Insertion - Frameshift(14)|Complex - frameshift(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(17)	5																																								170770151	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837545_170837546insCTGC	ENSP00000296930:p.Trp288fs								170770150				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W287fs	ENST00000296930.5	37	c.861_862	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770151	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CTGC	CTGC	170837546	-	CTGC	170837545	7	5	53	1	0	1	1	0	0	0	0	0	10587	900	32	0	916	0	NPM1	5	170837545	Frame_Shift_Ins	INS	-	TCGA-AB-2859-03B-01W-0728-08	147310759	170837545	10077715	5	552											
RREB1	6239	genome.wustl.edu	37	6	7230591	7230591	+	Silent	SNP	C	C	G			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr6:7230591C>G	ENST00000349384.6	+	10	2573	c.2259C>G	c.(2257-2259)acC>acG	p.T753T	RREB1_ENST00000379933.3_Silent_p.T753T|RREB1_ENST00000334984.6_Silent_p.T753T|RREB1_ENST00000379938.2_Silent_p.T753T	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	753					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCCCGGACACCGTGTGCCGGC	0.672																																						dbGAP											0			6											43	41	41					6																	7230591		2203	4299	6502	7175590	SO:0001819	synonymous_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"Zinc fingers, C2H2-type"	10449	protein-coding gene	gene with protein product	"hindsight homolog (drosophila)"	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2259C>G	6.37:g.7230591C>G		53	1.85	1		35	54.55	42	7175590	79	39.85	53	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.T753	ENST00000349384.6	37	c.2259	CCDS34336.1	6																																																																																			-	HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2		0.672	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	protein_coding	OTTHUMT00000352985.1	C			7175590	1	no_errors	NM_001003699.2	genbank	human	validated	54_36p	silent	SNP	0.984	G	G	7230591	C	G	7230591	2	3	53	1	0	0	0	0	0	0	0	1	13679	639	23	4		4	RREB1	6	7230591	Silent	SNP	C	TCGA-AB-2859-03B-01W-0728-08		7230591	163884476	6	553											
MTUS1	57509	genome.wustl.edu	37	8	17541960	17541960	+	Silent	SNP	C	C	T			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr8:17541960C>T	ENST00000262102.6	-	7	2939	c.2715G>A	c.(2713-2715)ttG>ttA	p.L905L	MTUS1_ENST00000297488.6_Silent_p.L71L|MTUS1_ENST00000519263.1_Silent_p.L851L|MTUS1_ENST00000381861.3_Silent_p.L152L|MTUS1_ENST00000544260.1_Silent_p.L50L|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381869.3_Silent_p.L851L|MIR548V_ENST00000584165.1_RNA	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	905					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TATATTGCGTCAATTCAAGTG	0.443																																						dbGAP											0			8											263	255	258					8																	17541960		1939	4141	6080	17586240	SO:0001819	synonymous_variant	0			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"AT2 receptor-interacting protein", "AT2R binding protein", "mitochondrial tumor suppressor gene 1"	609589	"mitochondrial tumor suppressor 1"			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2715G>A	8.37:g.17541960C>T		214	0.46	1		2	0	0	17586240	603	26.17	218	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	NULL	p.L905	ENST00000262102.6	37	c.2715	CCDS43717.1	8																																																																																			-	NULL		0.443	MTUS1-001	KNOWN	basic|CCDS	protein_coding	MTUS1	protein_coding	OTTHUMT00000375247.1	C	XM_372031		17586240	-1	no_errors	NM_001001924.2	genbank	human	reviewed	54_36p	silent	SNP	0.954	T	T	17541960	C	T	17541960	2	4	53	1	0	0	0	0	0	0	0	1	9965	825	29	2		2	MTUS1	8	17541960	Silent	SNP	C	TCGA-AB-2859-03B-01W-0728-08		17541960	128822062	7	554											
HNRNPK	3190	genome.wustl.edu	37	9	86591919	86591920	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	GA	GA	GA	-	GA	GA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr9:86591919_86591920delGA	ENST00000376264.2	-	5	461_462	c.203_204delTC	c.(202-204)ctcfs	p.L68fs	RP11-575L7.8_ENST00000448389.1_RNA|HNRNPK_ENST00000351839.3_Frame_Shift_Del_p.L68fs|HNRNPK_ENST00000376263.3_Frame_Shift_Del_p.L68fs|HNRNPK_ENST00000376281.4_Frame_Shift_Del_p.L68fs|HNRNPK_ENST00000360384.5_Frame_Shift_Del_p.L68fs	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	68	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with DDX1.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CGTCTGTACGGAGAGCCTTAAT	0.337																																						dbGAP											0			9																																								85781740	SO:0001589	frameshift_variant	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.203_204delTC	9.37:g.86591921_86591922delGA	ENSP00000365440:p.Leu68fs	0	0	0		0	23.08	3	85781739	0	29.32	73	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Frame_Shift_Del	DEL	HMMSmart_SM00322,HMMPfam_ROKNT,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)	p.L68fs	ENST00000376264.2	37	c.204_203	CCDS6667.1	9																																																																																			-	HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)		0.337	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	protein_coding	OTTHUMT00000052846.2	GA			85781740	-1	no_errors	NM_002140.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.999:1.000	-	-	86591920	GA	-	86591919	7	5	53	1	0	1	0	1	0	0	0	0	7269	1161	41	0	1277	0	HNRNPK	9	86591919	Frame_Shift_Del	DEL	GA	TCGA-AB-2859-03B-01W-0728-08		86591919	54621512	8	555											
OR51A7	119687	genome.wustl.edu	37	11	4929441	4929441	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr11:4929441T>G	ENST00000359350.4	+	1	842	c.842T>G	c.(841-843)tTg>tGg	p.L281W	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	281						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTCTTGTTGGTGCCGCCC	0.463																																						dbGAP											0			11											169	162	164					11																	4929441		2201	4298	6499	4886017	SO:0001583	missense	0			AB065525	CCDS31364.1	11p15.4	2012-08-09			ENSG00000176895	ENSG00000176895		"GPCR / Class A : Olfactory receptors"	15188	protein-coding gene	gene with protein product							Standard	NM_001004749		Approved		uc010qyq.2	Q8NH64	OTTHUMG00000066502	ENST00000359350.4:c.842T>G	11.37:g.4929441T>G	ENSP00000352305:p.Leu281Trp	205	1.91	4					4886017	382	37.4	230	Q6IFH8	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.L281W	ENST00000359350.4	37	c.842	CCDS31364.1	11	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324280	0.41197	.	.	ENSG00000176895	ENST00000359350;ENST00000545959;ENST00000544684	T	0.73258	-0.73	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001757	D	0.89259	0.6664	H	0.97440	4.005	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84365	0.0540	10	0.87932	D	0	.	13.7058	0.62639	0.0:0.0:0.0:1.0	.	281	Q8NH64	O51A7_HUMAN	W	281;281;270	ENSP00000352305:L281W	ENSP00000352305:L281W	L	+	2	0	OR51A7	4886017	0.405000	0.25336	0.988000	0.46212	0.468000	0.32798	4.099000	0.57755	2.098000	0.63641	0.533000	0.62120	TTG	-	HMMPfam_7tm_1,superfamily_SSF81321		0.463	OR51A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51A7	protein_coding	OTTHUMT00000142175.1	T	NM_001004749		4886017	1	no_errors	NM_001004749.1	genbank	human	provisional	54_36p	missense	SNP	0.120	G	G	4929441	T	G	4929441	3	3	53	1	0	0	0	0	1	0	0	0	11088	1821	63	5	844	5	OR51A7	11	4929441	Missense_Mutation	SNP	T	TCGA-AB-2859-03B-01W-0728-08		4929441	130077075	9	556											
VPS26B	112936	genome.wustl.edu	37	11	134095072	134095072	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr11:134095072C>G	ENST00000281187.5	+	1	534	c.56C>G	c.(55-57)gCa>gGa	p.A19G	NCAPD3_ENST00000534548.2_5'Flank|VPS26B_ENST00000525095.2_Missense_Mutation_p.A19G|NCAPD3_ENST00000526422.1_5'Flank	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	19					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		CTGAACGATGCAGAGAGTAGG	0.617																																					Colon(171;1263 1952 15904 45703 47982)	dbGAP											0			11											67	71	70					11																	134095072		2201	4297	6498	133600282	SO:0001583	missense	0				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"vacuolar protein sorting 26 homolog B (yeast)"			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.56C>G	11.37:g.134095072C>G	ENSP00000281187:p.Ala19Gly	249	7.43	20		41	46.75	36	133600282	97	48.13	90	Q96A55	Missense_Mutation	SNP	HMMPfam_Vps26	p.A19G	ENST00000281187.5	37	c.56	CCDS8495.1	11	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064089	0.55432	.	.	ENSG00000151502	ENST00000281187;ENST00000525095	.	.	.	4.82	4.82	0.62117	.	0.056183	0.64402	D	0.000001	T	0.50377	0.1612	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43893	-0.9363	9	0.20046	T	0.44	-17.6543	13.6091	0.62065	0.0:0.8443:0.1557:0.0	.	19	Q4G0F5	VP26B_HUMAN	G	19	.	ENSP00000281187:A19G	A	+	2	0	VPS26B	133600282	0.975000	0.34042	1.000000	0.80357	0.987000	0.75469	2.448000	0.44926	2.194000	0.70268	0.563000	0.77884	GCA	-	HMMPfam_Vps26		0.617	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS26B	protein_coding	OTTHUMT00000393591.1	C	NM_052875		133600282	1	no_errors	NM_052875.3	genbank	human	validated	54_36p	missense	SNP	0.999	G	G	134095072	C	G	134095072	3	3	53	1	0	0	0	0	1	0	0	0	17195	710	25	4	58	4	VPS26B	11	134095072	Missense_Mutation	SNP	C	TCGA-AB-2859-03B-01W-0728-08	129165631	134095072	911444	10	557											
USP10	9100	genome.wustl.edu	37	16	84779243	84779243	+	Frame_Shift_Del	DEL	C	C	-	rs199654727		TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr16:84779243delC	ENST00000219473.7	+	4	1269	c.1156delC	c.(1156-1158)ccgfs	p.P386fs	USP10_ENST00000570191.1_Frame_Shift_Del_p.P390fs	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	386					autophagy (GO:0006914)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA repair (GO:0006281)|protein deubiquitination (GO:0016579)|regulation of autophagy (GO:0010506)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGGGCTTGTTCCGGTTTCAGA	0.468																																						dbGAP											0			16											14	15	15					16																	84779243		1860	4111	5971	83336744	SO:0001589	frameshift_variant	0			D80012	CCDS45537.1, CCDS62004.1	16q	2008-03-25	2005-08-08			ENSG00000103194		"Ubiquitin-specific peptidases"	12608	protein-coding gene	gene with protein product		609818	"ubiquitin specific protease 10"			12838346	Standard	NM_005153		Approved	UBPO, KIAA0190	uc002fii.3	Q14694		ENST00000219473.7:c.1156delC	16.37:g.84779243delC	ENSP00000219473:p.Pro386fs	36	0	0		16	15	3	83336744	215	27	81	B2RDJ8|B4DS84|Q9BWG7|Q9NSL7	Frame_Shift_Del	DEL	HMMPfam_UCH,HMMPfam_PAM2,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001	p.P386fs	ENST00000219473.7	37	c.1156	CCDS45537.1	16																																																																																			-	NULL		0.468	USP10-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	USP10	protein_coding	OTTHUMT00000433660.1	C			83336744	1	no_errors	NM_005153.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	84779243	C	-	84779243	7	5	53	1	0	1	0	1	0	0	0	0	17038	855	30	0	1170	0	USP10	16	84779243	Frame_Shift_Del	DEL	C	TCGA-AB-2859-03B-01W-0728-08		84779243	5575510	11	558											
KRTAP4-2	85291	genome.wustl.edu	37	17	39334314	39334314	+	Missense_Mutation	SNP	A	A	T	rs200720939		TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr17:39334314A>T	ENST00000377726.2	-	1	146	c.103T>A	c.(103-105)Tgc>Agc	p.C35S		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	35	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GGGCGGCAGCAGGTGGTCCTG	0.657																																						dbGAP											0			17											48	52	50					17																	39334314		2199	4289	6488	36587840	SO:0001583	missense	0			AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"Keratin associated proteins"	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.103T>A	17.37:g.39334314A>T	ENSP00000366955:p.Cys35Ser	72	1.37	1					36587840	213	19.55	52	A0JP64	Missense_Mutation	SNP	HMMPfam_Keratin_B2	p.C35S	ENST00000377726.2	37	c.103	CCDS11384.1	17	.	.	.	.	.	.	.	.	.	.	.	9.002	0.980423	0.18812	.	.	ENSG00000244537	ENST00000377726;ENST00000458321	T	0.02085	4.46	4.24	4.24	0.50183	.	0.212644	0.23275	U	0.049980	T	0.10035	0.0246	H	0.95402	3.665	0.32423	N	0.54916	B	0.33883	0.43	B	0.40602	0.334	T	0.00912	-1.1517	10	0.49607	T	0.09	.	11.5905	0.50943	1.0:0.0:0.0:0.0	.	35	Q9BYR5	KRA42_HUMAN	S	35;152	ENSP00000366955:C35S	ENSP00000366955:C35S	C	-	1	0	KRTAP4-2	36587840	0.997000	0.39634	0.987000	0.45799	0.045000	0.14185	4.092000	0.57707	1.667000	0.50832	0.421000	0.28195	TGC	-	HMMPfam_Keratin_B2		0.657	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-2	protein_coding	OTTHUMT00000257305.1	A			36587840	-1	no_errors	NM_033062.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	39334314	A	T	39334314	3	4	53	1	0	0	0	0	1	0	0	0	8551	188	7	5	311	5	KRTAP4-2	17	39334314	Missense_Mutation	SNP	A	TCGA-AB-2859-03B-01W-0728-08		39334314	41860896	12	559											
KRT13	3860	genome.wustl.edu	37	17	39658952	39658952	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chr17:39658952G>A	ENST00000246635.3	-	5	1056	c.1010C>T	c.(1009-1011)tCc>tTc	p.S337F	KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.S337F|KRT13_ENST00000336861.3_Missense_Mutation_p.S337F|AC019349.5_ENST00000411759.1_RNA	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	337	Coil 2.|Rod.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCTCAGCTGGGACTGCAGCTC	0.587																																						dbGAP											0			17											138	123	128					17																	39658952		2203	4300	6503	36912478	SO:0001583	missense	0				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"-", "Intermediate filaments type I, keratins (acidic)"	6415	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 13", "cytokeratin 13"	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1010C>T	17.37:g.39658952G>A	ENSP00000246635:p.Ser337Phe	151	0	0					36912478	188	32.63	93	Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.S337F	ENST00000246635.3	37	c.1010	CCDS11396.1	17	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811282	0.70797	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.89939	-2.59;-2.59	4.45	4.45	0.53987	Filament (1);	0.000000	0.45606	D	0.000355	D	0.94558	0.8247	M	0.93720	3.45	0.48395	D	0.999648	P;P;P;P	0.47962	0.903;0.828;0.794;0.828	P;P;P;P	0.53912	0.618;0.737;0.618;0.737	D	0.95923	0.8932	10	0.87932	D	0	.	15.7991	0.78436	0.0:0.0:1.0:0.0	.	325;337;337;337	P13646-2;A1A4E9;P13646-3;P13646	.;.;.;K1C13_HUMAN	F	337;337;325	ENSP00000246635:S337F;ENSP00000336604:S337F	ENSP00000157775:S325F	S	-	2	0	KRT13	36912478	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	7.753000	0.85153	2.460000	0.83146	0.478000	0.44815	TCC	-	superfamily_Prefoldin,HMMPfam_Filament		0.587	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	protein_coding	OTTHUMT00000257297.1	G	NM_153490		36912478	-1	no_errors	NM_153490.3	genbank	human	reviewed	54_36p	missense	SNP	0.999	A	A	39658952	G	A	39658952	3	1	53	1	0	0	0	0	1	0	0	0	8450	1174	41	2	382	2	KRT13	17	39658952	Missense_Mutation	SNP	G	TCGA-AB-2859-03B-01W-0728-08	324638	39658952	41536258	13	560											
TFDP3	51270	genome.wustl.edu	37	X	132351106	132351106	+	Silent	SNP	G	G	A			TCGA-AB-2859-03B-01W-0728-08	TCGA-AB-2859-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b4f66f34-4aa4-413b-b4ca-21ec2c850d0c	db602e88-3b9e-4f38-9035-91bdcec0962f	g.chrX:132351106G>A	ENST00000310125.4	-	1	1270	c.1182C>T	c.(1180-1182)aaC>aaT	p.N394N		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	394	Asp/Glu-rich (acidic; NCB domain).				cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GGTCGTCATCGTTGTTGTCCT	0.498																																						dbGAP											0			X											95	93	94					X																	132351106		2201	4299	6500	132178772	SO:0001819	synonymous_variant	0			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"E2F-like protein", "cancer/testis antigen 30"	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.1182C>T	X.37:g.132351106G>A		71	0	0					132178772	98	65.87	193	Q6DK49|Q9NZ54	Silent	SNP	HMMPfam_E2F_TDP,HMMPfam_DP,superfamily_"Winged helix" DNA-binding domain	p.N334	ENST00000310125.4	37	c.1002	CCDS14636.2	X																																																																																			-	NULL		0.498	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	protein_coding	OTTHUMT00000058337.1	G	NM_016521		132178772	-1	no_errors	NM_016521.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	132351106	G	A	132351106	2	1	53	1	0	0	0	0	0	0	0	1	15796	1136	40	1		1	TFDP3	23	132351106	Silent	SNP	G	TCGA-AB-2859-03B-01W-0728-08		132351106	22919454	14	561											
PLOD1	5351	genome.wustl.edu	37	1	12024810	12024810	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr1:12024810G>A	ENST00000196061.4	+	13	1465	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	PLOD1_ENST00000376369.3_Missense_Mutation_p.D527N	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	480					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGGACCCCGACATGGCCTT	0.612																																						dbGAP											0			1											81	82	82					1																	12024810		2203	4300	6503	11947397	SO:0001583	missense	0			BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"lysyl hydroxlase 1"	153454	"procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1438G>A	1.37:g.12024810G>A	ENSP00000196061:p.Asp480Asn	26	0	0		40	43.66	31	11947397	8	38.46	5	B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	PatternScan_LYS_HYDROXYLASE,HMMPfam_2OG-FeII_Oxy,HMMSmart_P4Hc	p.D480N	ENST00000196061.4	37	c.1438	CCDS142.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.109114	0.94292	.	.	ENSG00000083444	ENST00000376369;ENST00000196061	D;D	0.95690	-3.78;-3.78	5.02	5.02	0.67125	.	0.100479	0.64402	D	0.000003	D	0.98027	0.9350	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.982;0.997	D	0.99153	1.0859	10	0.87932	D	0	.	17.3226	0.87240	0.0:0.0:1.0:0.0	.	527;480	B4DR87;Q02809	.;PLOD1_HUMAN	N	527;480	ENSP00000365548:D527N;ENSP00000196061:D480N	ENSP00000196061:D480N	D	+	1	0	PLOD1	11947397	1.000000	0.71417	0.937000	0.37676	0.802000	0.45316	9.869000	0.99810	2.331000	0.79229	0.655000	0.94253	GAC	-	NULL		0.612	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD1	protein_coding	OTTHUMT00000006865.1	G	NM_000302		11947397	1	no_errors	NM_000302.2	genbank	human	reviewed	54_36p	missense	SNP	0.997	A	A	12024810	G	A	12024810	3	1	54	1	0	0	0	0	1	0	0	0	12101	1058	37	1	1488	1	PLOD1	1	12024810	Missense_Mutation	SNP	G	TCGA-AB-2860-03B-01W-0728-08		12024810	237225811	1	562											
MNDA	4332	genome.wustl.edu	37	1	158815449	158815449	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr1:158815449G>A	ENST00000368141.4	+	5	904	c.643G>A	c.(643-645)Gtg>Atg	p.V215M		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	215	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AGTGACAGTGGTGGTACTGAA	0.458																																						dbGAP											0			1											84	79	81					1																	158815449		2203	4300	6503	157082073	SO:0001583	missense	0			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.643G>A	1.37:g.158815449G>A	ENSP00000357123:p.Val215Met	76	0	0		124	51.18	130	157082073	73	29.13	30		Missense_Mutation	SNP	HMMPfam_PAAD_DAPIN,HMMPfam_HIN	p.V215M	ENST00000368141.4	37	c.643	CCDS1177.1	1	.	.	.	.	.	.	.	.	.	.	G	0.328	-0.958108	0.02267	.	.	ENSG00000163563	ENST00000368141	T	0.12774	2.65	4.15	-3.13	0.05266	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	0.742224	0.11651	N	0.542801	T	0.00412	0.0013	N	0.00157	-1.96	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.38499	-0.9658	10	0.02654	T	1	-3.1394	0.9426	0.01358	0.3565:0.3093:0.1843:0.1499	.	215	P41218	MNDA_HUMAN	M	215	ENSP00000357123:V215M	ENSP00000357123:V215M	V	+	1	0	MNDA	157082073	0.211000	0.23529	0.127000	0.21898	0.283000	0.27025	-0.788000	0.04614	-0.752000	0.04728	-0.294000	0.09567	GTG	-	HMMPfam_HIN		0.458	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	protein_coding	OTTHUMT00000059069.1	G	NM_002432		157082073	1	no_errors	NM_002432.1	genbank	human	reviewed	54_36p	missense	SNP	0.003	A	A	158815449	G	A	158815449	3	1	54	1	0	0	0	0	1	0	0	0	9676	1261	44	2	657	2	MNDA	1	158815449	Missense_Mutation	SNP	G	TCGA-AB-2860-03B-01W-0728-08	146790639	158815449	90435172	2	563											
HS3ST1	9957	genome.wustl.edu	37	4	11401018	11401018	+	Silent	SNP	C	C	T			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr4:11401018C>T	ENST00000002596.5	-	2	1786	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	204					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGAAAAAGCGCAGCCAGTTCT	0.592																																						dbGAP											0			4											52	48	50					4																	11401018		2203	4300	6503	11010116	SO:0001819	synonymous_variant	0			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"Sulfotransferases, membrane-bound"	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.612G>A	4.37:g.11401018C>T		23	0	0		13	38.1	8	11010116	31	38	19	B3KUA6|Q6PEY8	Silent	SNP	HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L204	ENST00000002596.5	37	c.612	CCDS3408.1	4																																																																																			-	HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.592	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	protein_coding	OTTHUMT00000207073.3	C	NM_005114		11010116	-1	no_errors	NM_005114.2	genbank	human	reviewed	54_36p	silent	SNP	0.999	T	T	11401018	C	T	11401018	2	4	54	1	0	0	0	0	0	0	0	1	7363	697	25	2		2	HS3ST1	4	11401018	Silent	SNP	C	TCGA-AB-2860-03B-01W-0728-08		11401018	179753258	3	564											
FRAS1	80144	genome.wustl.edu	37	4	79188550	79188550	+	Silent	SNP	C	C	T			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr4:79188550C>T	ENST00000325942.6	+	9	1385	c.945C>T	c.(943-945)tgC>tgT	p.C315C	FRAS1_ENST00000264899.6_Silent_p.C315C|FRAS1_ENST00000264895.6_Silent_p.C315C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	315	VWFC 5. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGTGACCTGCCAGACTGGAG	0.562																																						dbGAP											0			4											74	79	78					4																	79188550		2123	4219	6342	79407574	SO:0001819	synonymous_variant	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"Fraser syndrome 1"			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.945C>T	4.37:g.79188550C>T		49	2	1					79407574	141	23.78	44	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMSmart_SM00181,HMMSmart_SM00261,HMMSmart_SM00215,superfamily_Growth factor receptor domain	p.C315	ENST00000325942.6	37	c.945	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.530|8.530	0.870768|0.870768	0.17322|0.17322	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000508900	.|.	.|.	.|.	5.19|5.19	3.43|3.43	0.39272|0.39272	.|.	.|.	.|.	.|.	.|.	T|T	0.62295|0.62295	0.2416|0.2416	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.60855|0.60855	-0.7180|-0.7180	4|4	.|.	.|.	.|.	.|.	11.6734|11.6734	0.51415|0.51415	0.0:0.7949:0.0:0.2051|0.0:0.7949:0.0:0.2051	.|.	.|.	.|.	.|.	V|S	244|158	.|.	.|.	A|P	+|+	2|1	0|0	FRAS1|FRAS1	79407574|79407574	0.949000|0.949000	0.32298|0.32298	1.000000|1.000000	0.80357|0.80357	0.791000|0.791000	0.44710|0.44710	0.515000|0.515000	0.22801|0.22801	1.312000|1.312000	0.45043|0.45043	0.655000|0.655000	0.94253|0.94253	GCC|CCA	-	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1		0.562	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	protein_coding	OTTHUMT00000362706.2	C			79407574	1	no_errors	ENST00000380674	ensembl	human	known	54_36p	silent	SNP	1.000	T	T	79188550	C	T	79188550	2	4	54	1	0	0	0	0	0	0	0	1	6042	747	26	2		2	FRAS1	4	79188550	Silent	SNP	C	TCGA-AB-2860-03B-01W-0728-08	67787532	79188550	111965726	4	565											
DCHS2	54798	genome.wustl.edu	37	4	155253840	155253840	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr4:155253840T>A	ENST00000357232.4	-	9	2022	c.2023A>T	c.(2023-2025)Agc>Tgc	p.S675C	DCHS2_ENST00000339452.1_Missense_Mutation_p.S1174C|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	675	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACTGTAGTGCTCACATTTTGC	0.443																																						dbGAP											0			4											117	121	120					4																	155253840		2203	4300	6503	155473290	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"Cadherins / Cadherin-related"	23111	protein-coding gene	gene with protein product	"cadherin-related family member 7"	612486	"cadherin-like 27", "dachsous 2 (Drosophila)"	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.2023A>T	4.37:g.155253840T>A	ENSP00000349768:p.Ser675Cys	29	0	0					155473290	50	41.18	35	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like	p.S675C	ENST00000357232.4	37	c.2023	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261843	0.59431	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.63744	-0.06;-0.06	4.89	4.89	0.63831	Cadherin (3);Cadherin-like (1);	0.384518	0.24854	N	0.035069	T	0.81781	0.4895	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.98	D	0.85594	0.1248	10	0.72032	D	0.01	.	14.7966	0.69881	0.0:0.0:0.0:1.0	.	1174;675	E9PC11;Q6V1P9	.;PCD23_HUMAN	C	675;1174;1174	ENSP00000349768:S675C;ENSP00000345062:S1174C	ENSP00000345062:S1174C	S	-	1	0	DCHS2	155473290	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.737000	0.68606	1.944000	0.56390	0.482000	0.46254	AGC	-	HMMSmart_SM00112,superfamily_Cadherin-like		0.443	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	protein_coding	OTTHUMT00000365281.2	T	NM_001142552		155473290	-1	no_errors	NM_017639.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	155253840	T	A	155253840	3	1	54	1	0	0	0	0	1	0	0	0	4288	1551	54	5	6891	5	DCHS2	4	155253840	Missense_Mutation	SNP	T	TCGA-AB-2860-03B-01W-0728-08	76065290	155253840	35900436	5	566											
CLIP2	7461	genome.wustl.edu	37	7	73790978	73790978	+	Silent	SNP	C	C	T			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr7:73790978C>T	ENST00000395060.1	+	9	2247	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	CLIP2_ENST00000361545.5_Silent_p.I714I|CLIP2_ENST00000223398.6_Silent_p.I749I			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	749						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGCAGGCTATCGAGTTCCTCA	0.632																																						dbGAP											0			7											30	38	35					7																	73790978		2203	4300	6503	73428914	SO:0001819	synonymous_variant	0			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"cytoplasmic linker 2", "Williams-Beuren syndrome chromosome region 3"	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2247C>T	7.37:g.73790978C>T		35	0	0		17	43.33	13	73428914	46	22.03	13	O14527|O43611	Silent	SNP	HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Cap-Gly domain	p.I749	ENST00000395060.1	37	c.2247	CCDS5569.1	7																																																																																			-	NULL		0.632	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP2	protein_coding	OTTHUMT00000252556.1	C	NM_003388		73428914	1	no_errors	NM_003388.4	genbank	human	reviewed	54_36p	silent	SNP	0.992	T	T	73790978	C	T	73790978	2	4	54	1	0	0	0	0	0	0	0	1	3533	874	31	1		1	CLIP2	7	73790978	Silent	SNP	C	TCGA-AB-2860-03B-01W-0728-08		73790978	85347685	6	567											
ENTPD1	953	genome.wustl.edu	37	10	97607227	97607227	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr10:97607227G>A	ENST00000371205.4	+	7	1121	c.838G>A	c.(838-840)Gac>Aac	p.D280N	ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.D287N|ENTPD1_ENST00000539125.1_Missense_Mutation_p.D142N|ENTPD1_ENST00000371207.3_Missense_Mutation_p.D292N|ENTPD1_ENST00000371203.5_Missense_Mutation_p.D142N|ENTPD1_ENST00000543964.1_Missense_Mutation_p.D172N			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	280					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AATTCTCAGGGACCCATGCTT	0.408																																						dbGAP											0			10											120	117	118					10																	97607227		2203	4300	6503	97597217	SO:0001583	missense	0			S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"CD molecules"	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.838G>A	10.37:g.97607227G>A	ENSP00000360248:p.Asp280Asn	36	0	0		20	28.57	8	97597217	71	19.1	17	A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE	p.D287N	ENST00000371205.4	37	c.859	CCDS7444.1	10	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669847	0.67814	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	5.77	5.77	0.91146	.	0.178610	0.64402	D	0.000014	T	0.19927	0.0479	N	0.21097	0.63	0.80722	D	1	P;B;P	0.52061	0.939;0.017;0.95	P;B;P	0.58660	0.756;0.033;0.843	T	0.03403	-1.1040	10	0.14252	T	0.57	-16.1031	17.8363	0.88699	0.0:0.0:1.0:0.0	.	292;287;280	G3XAF6;P49961-2;P49961	.;.;ENTP1_HUMAN	N	287;292;172;142;142;280	ENSP00000390955:D287N;ENSP00000360250:D292N;ENSP00000442968:D172N;ENSP00000440027:D142N;ENSP00000360246:D142N;ENSP00000360248:D280N	ENSP00000360246:D142N	D	+	1	0	ENTPD1	97597217	1.000000	0.71417	0.942000	0.38095	0.226000	0.24999	7.007000	0.76335	2.890000	0.99128	0.650000	0.86243	GAC	-	HMMPfam_GDA1_CD39		0.408	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD1	protein_coding	OTTHUMT00000049566.1	G	NM_001776		97597217	1	no_errors	NM_001098175.1	genbank	human	validated	54_36p	missense	SNP	0.005	A	A	97607227	G	A	97607227	3	1	54	1	0	0	0	0	1	0	0	0	5138	1174	41	2	961	2	ENTPD1	10	97607227	Missense_Mutation	SNP	G	TCGA-AB-2860-03B-01W-0728-08		97607227	37927520	7	568											
NPAS4	266743	genome.wustl.edu	37	11	66192415	66192415	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr11:66192415A>G	ENST00000311034.2	+	7	2230	c.2054A>G	c.(2053-2055)gAc>gGc	p.D685G		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	685					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCAGCCTGGACCTGAAACCC	0.602																																						dbGAP											0			11											82	89	87					11																	66192415		2200	4295	6495	65948991	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"Basic helix-loop-helix proteins"	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.2054A>G	11.37:g.66192415A>G	ENSP00000311196:p.Asp685Gly	57	3.39	2					65948991	13	40.91	9	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	HMMSmart_PAS,HMMPfam_PAS_3,superfamily_SSF55785	p.D685G	ENST00000311034.2	37	c.2054	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744261	0.30865	.	.	ENSG00000174576	ENST00000311034	T	0.46063	0.88	4.69	4.69	0.59074	.	0.102006	0.43579	D	0.000541	T	0.26702	0.0653	N	0.14661	0.345	0.39185	D	0.962859	B	0.17667	0.023	B	0.20955	0.032	T	0.11991	-1.0565	10	0.51188	T	0.08	-5.8488	10.4666	0.44611	1.0:0.0:0.0:0.0	.	685	Q8IUM7	NPAS4_HUMAN	G	685	ENSP00000311196:D685G	ENSP00000311196:D685G	D	+	2	0	NPAS4	65948991	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	2.798000	0.47884	1.978000	0.57642	0.533000	0.62120	GAC	-	NULL		0.602	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	protein_coding	OTTHUMT00000392634.1	A	NM_178864		65948991	1	no_errors	NM_178864.3	genbank	human	validated	54_36p	missense	SNP	0.874	G	G	66192415	A	G	66192415	3	3	54	1	0	0	0	0	1	0	0	0	10565	275	10	3	2080	3	NPAS4	11	66192415	Missense_Mutation	SNP	A	TCGA-AB-2860-03B-01W-0728-08		66192415	68814101	8	569											
TP53	7157	genome.wustl.edu	37	17	7579569	7579570	+	Frame_Shift_Ins	INS	-	-	CCATCCAG			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	-	-	-	CCATCCAG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr17:7579569_7579570insCCATCCAG	ENST00000269305.4	-	4	306_307	c.117_118insCTGGATGG	c.(115-120)gcaatgfs	p.M40fs	TP53_ENST00000455263.2_Frame_Shift_Ins_p.M40fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Frame_Shift_Ins_p.M40fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.M40fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.M40fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.M40fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	40	Interaction with HRMT1L2.|Transcription activation (acidic).				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P36fs*4(3)|p.S37fs*79(1)|p.P13fs*18(1)|p.S33fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AAATCATCCATTGCTTGGGACG	0.599		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	14	Whole gene deletion(8)|Deletion - Frameshift(6)	bone(4)|ovary(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|prostate(1)	17																																								7520295	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.117_118insCTGGATGG	17.37:g.7579569_7579570insCCATCCAG	ENSP00000269305:p.Met40fs								7520294				Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.M39fs	ENST00000269305.4	37	c.118_117	CCDS11118.1	17																																																																																			-	NULL		0.599	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	-	NM_000546		7520295	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.000:0.000	CCATCCAG	CCATCCAG	7579570	-	CCATCCAG	7579569	7	5	54	1	0	1	1	0	0	0	0	0	16378	1493	52	0	1184	0	TP53	17	7579569	Frame_Shift_Ins	INS	-	TCGA-AB-2860-03B-01W-0728-08		7579569	73615641	9	570											
MUC16	94025	genome.wustl.edu	37	19	9060849	9060849	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr19:9060849G>A	ENST00000397910.4	-	3	26800	c.26597C>T	c.(26596-26598)tCg>tTg	p.S8866L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8868	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATAAAGTGGCGAAGGTGAGGT	0.512																																						dbGAP											0			19											117	116	117					19																	9060849		2001	4170	6171	8921849	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26597C>T	19.37:g.9060849G>A	ENSP00000381008:p.Ser8866Leu	176	1.64	3					8921849	110	24.83	37	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain	p.S8866L	ENST00000397910.4	37	c.26597	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	-	7.312	0.615210	0.14129	.	.	ENSG00000181143	ENST00000397910	T	0.27256	1.68	2.02	2.02	0.26589	.	.	.	.	.	T	0.32763	0.0840	L	0.29908	0.895	.	.	.	D	0.76494	0.999	D	0.68765	0.96	T	0.42447	-0.9451	8	0.87932	D	0	.	7.5796	0.27957	0.0:0.0:1.0:0.0	.	8866	B5ME49	.	L	8866	ENSP00000381008:S8866L	ENSP00000381008:S8866L	S	-	2	0	MUC16	8921849	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.273000	0.08548	1.459000	0.47892	0.298000	0.19748	TCG	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690		8921849	-1	no_errors	NM_024690.2	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	9060849	G	A	9060849	3	1	54	1	0	0	0	0	1	0	0	0	9973	1059	37	1	17254	1	MUC16	19	9060849	Missense_Mutation	SNP	G	TCGA-AB-2860-03B-01W-0728-08		9060849	50068134	10	571											
RYR1	6261	genome.wustl.edu	37	19	38987175	38987175	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2860-03B-01W-0728-08	TCGA-AB-2860-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3b8b7cea-9e19-426f-9e58-d40de477ce12	a9f714a7-2581-4ce0-b077-3db990730b27	g.chr19:38987175G>A	ENST00000359596.3	+	41	6790	c.6790G>A	c.(6790-6792)Ggc>Agc	p.G2264S	RYR1_ENST00000360985.3_Missense_Mutation_p.G2264S|RYR1_ENST00000355481.4_Missense_Mutation_p.G2264S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2264	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CAGTGGCATCGGCCTGGGTGA	0.622																																						dbGAP											0			19											40	45	43					19																	38987175		2203	4299	6502	43679015	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"Ion channels / Ryanodine receptors"	10483	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 137"	180901	"central core disease of muscle"	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.6790G>A	19.37:g.38987175G>A	ENSP00000352608:p.Gly2264Ser	18	0	0					43679015	10	37.5	6	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMSmart_SM00449,superfamily_EF-hand	p.G2264S	ENST00000359596.3	37	c.6790	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321396	0.81580	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95272	-3.66;-3.66;-3.66	4.83	4.83	0.62350	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000002	D	0.95620	0.8576	L	0.46157	1.445	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93409	0.6767	10	0.15952	T	0.53	.	17.6847	0.88253	0.0:0.0:1.0:0.0	.	2264;2264	P21817-2;P21817	.;RYR1_HUMAN	S	2264	ENSP00000352608:G2264S;ENSP00000347667:G2264S;ENSP00000354254:G2264S	ENSP00000347667:G2264S	G	+	1	0	RYR1	43679015	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	9.612000	0.98347	2.499000	0.84300	0.555000	0.69702	GGC	-	HMMPfam_RYDR_ITPR		0.622	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	G			43679015	1	no_errors	NM_000540.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	38987175	G	A	38987175	3	1	54	1	0	0	0	0	1	0	0	0	13768	1116	39	1	6952	1	RYR1	19	38987175	Missense_Mutation	SNP	G	TCGA-AB-2860-03B-01W-0728-08	29926326	38987175	20141808	11	572											
B4GALT3	8703	genome.wustl.edu	37	1	161143511	161143511	+	Silent	SNP	C	C	T	rs200680049		TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr1:161143511C>T	ENST00000319769.5	-	6	909	c.687G>A	c.(685-687)ccG>ccA	p.P229P	B4GALT3_ENST00000470882.1_5'UTR|B4GALT3_ENST00000367998.1_Silent_p.P229P|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	229					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	ACTGGGGGTACGGGAGGCTAG	0.552																																						dbGAP											0			1											125	115	118					1																	161143511		2203	4300	6503	159410135	SO:0001819	synonymous_variant	0			BC006099	CCDS1222.1	1q21-q23	2013-02-19			ENSG00000158850	ENSG00000158850		"Beta 4-glycosyltransferases"	926	protein-coding gene	gene with protein product		604014				9405390, 9597550	Standard	NM_001199873		Approved	beta4Gal-T3	uc001fys.2	O60512	OTTHUMG00000034348	ENST00000319769.5:c.687G>A	1.37:g.161143511C>T		611	2.7	17		35	55.56	45	159410135	109	40.86	76	D3DVG3|O60910|Q9BPZ4|Q9H8T2	Silent	SNP	HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases	p.P229	ENST00000319769.5	37	c.687	CCDS1222.1	1																																																																																			-	HMMPfam_Galactosyl_T_2,superfamily_Nucleotide-diphospho-sugar transferases		0.552	B4GALT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALT3	protein_coding	OTTHUMT00000083054.1	C	NM_003779		159410135	-1	no_errors	NM_003779.2	genbank	human	reviewed	54_36p	silent	SNP	0.701	T	T	161143511	C	T	161143511	2	4	55	1	0	0	0	0	0	0	0	1	1272	523	19	1		1	B4GALT3	1	161143511	Silent	SNP	C	TCGA-AB-2861-03B-01W-0728-08		161143511	88107110	1	573											
DNMT3A	1788	genome.wustl.edu	37	2	25467032	25467032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr2:25467032G>A	ENST00000264709.3	-	15	2180	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q426*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q392*|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q615*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	615					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAAATTCCTGGTCGTGGTTA	0.632			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											32	38	36					2																	25467032		2203	4300	6503	25320536	SO:0001587	stop_gained	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1843C>T	2.37:g.25467032G>A	ENSP00000264709:p.Gln615*	46	0	0		10	28.57	4	25320536	5	61.54	8	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.Q615*	ENST00000264709.3	37	c.1843	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	43	9.929607	0.99298	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-9.0995	17.0371	0.86479	0.0:0.0:1.0:0.0	.	.	.	.	X	426;615;615;392	.	ENSP00000264709:Q615X	Q	-	1	0	DNMT3A	25320536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.883000	0.87264	2.354000	0.79902	0.655000	0.94253	CAG	-	NULL		0.632	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25320536	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	25467032	G	A	25467032	4	1	55	1	0	0	0	0	0	1	0	0	4676	1357	47	2	931	2	DNMT3A	2	25467032	Nonsense_Mutation	SNP	G	TCGA-AB-2861-03B-01W-0728-08		25467032	217732341	2	574											
WIPF1	7456	genome.wustl.edu	37	2	175432735	175432735	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr2:175432735G>C	ENST00000392547.2	-	6	1295	c.1196C>G	c.(1195-1197)cCt>cGt	p.P399R	AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.P399R|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000359761.3_Missense_Mutation_p.P399R|WIPF1_ENST00000409891.1_Missense_Mutation_p.P399R|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Missense_Mutation_p.P399R	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	399	Pro-rich.				actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGGCAACTGAGGGGTAGCAGG	0.612																																						dbGAP											0			2											53	50	51					2																	175432735		2203	4300	6503	175140981	SO:0001583	missense	0			AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"Wiskott-Aldrich syndrome protein interacting protein"	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.1196C>G	2.37:g.175432735G>C	ENSP00000376330:p.Pro399Arg	182	1.09	2		37	47.14	33	175140981	37	46.38	32	B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	HMMPfam_WH2,HMMSmart_SM00246	p.P399R	ENST00000392547.2	37	c.1196	CCDS2260.1	2	.	.	.	.	.	.	.	.	.	.	G	18.86	3.712722	0.68730	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891	T;T;T;T;D	0.89050	0.25;-1.19;0.25;0.25;-2.46	5.49	5.49	0.81192	.	0.116881	0.64402	D	0.000010	D	0.94574	0.8252	M	0.81802	2.56	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	D;D;P	0.65773	0.938;0.938;0.868	D	0.94767	0.7941	10	0.87932	D	0	.	19.7433	0.96241	0.0:0.0:1.0:0.0	.	399;399;399	O43516-3;O43516-2;O43516	.;.;WIPF1_HUMAN	R	399;255;399;399;399;399	ENSP00000376330:P399R;ENSP00000272746:P399R;ENSP00000352802:P399R;ENSP00000376329:P399R;ENSP00000386431:P399R	ENSP00000272746:P399R	P	-	2	0	WIPF1	175140981	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.381000	0.79718	2.733000	0.93635	0.655000	0.94253	CCT	-	NULL		0.612	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WIPF1	protein_coding	OTTHUMT00000255453.1	G	NM_003387		175140981	-1	no_errors	NM_001077269.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	175432735	G	C	175432735	3	2	55	1	0	0	0	0	1	0	0	0	17364	1000	35	4	327	4	WIPF1	2	175432735	Missense_Mutation	SNP	G	TCGA-AB-2861-03B-01W-0728-08	149965703	175432735	67766638	3	575											
ZNF197	10168	genome.wustl.edu	37	3	44674061	44674061	+	Silent	SNP	C	C	T			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr3:44674061C>T	ENST00000396058.1	+	4	906	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	ZNF197_ENST00000383745.2_Silent_p.L247L|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Silent_p.L247L|ZNF197_ENST00000344387.4_Silent_p.L247L			O14709	ZN197_HUMAN	zinc finger protein 197	247	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GGATGTGATGCTGGAGAATTA	0.438																																						dbGAP											0			3											218	200	206					3																	44674061		2203	4300	6503	44649065	SO:0001819	synonymous_variant	0			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"Zinc fingers, C2H2-type", "-", "-", "-"	12988	protein-coding gene	gene with protein product			"zinc finger protein 166"	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.739C>T	3.37:g.44674061C>T		232	6.07	15		4	42.86	3	44649065	129	42.48	96	B2RAH8|Q86VG0	Silent	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.L247	ENST00000396058.1	37	c.739	CCDS2717.1	3																																																																																			-	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352)		0.438	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	protein_coding	OTTHUMT00000256747.4	C	NM_006991		44649065	1	no_errors	NM_006991.1	genbank	human	reviewed	54_36p	silent	SNP	0.997	T	T	44674061	C	T	44674061	2	4	55	1	0	0	0	0	0	0	0	1	17756	796	28	2		2	ZNF197	3	44674061	Silent	SNP	C	TCGA-AB-2861-03B-01W-0728-08		44674061	153348369	4	576											
MEPE	56955	genome.wustl.edu	37	4	88767387	88767387	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr4:88767387G>A	ENST00000424957.3	+	4	1440	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	MEPE_ENST00000560249.1_Missense_Mutation_p.G343D|MEPE_ENST00000361056.3_Missense_Mutation_p.G456D|MEPE_ENST00000540395.1_Missense_Mutation_p.G343D|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_Missense_Mutation_p.G432D|MEPE_ENST00000395102.4_Missense_Mutation_p.G487D	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	456					biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TCCTTTAATGGCCCCAGTCAT	0.393																																						dbGAP											0			4											61	60	60					4																	88767387		2203	4300	6503	88986411	SO:0001583	missense	0			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.1367G>A	4.37:g.88767387G>A	ENSP00000416984:p.Gly456Asp	282	2.76	8					88986411	50	35.06	27	A1A4X9|A8MTA3|D2CFR4|F5H5C5	Missense_Mutation	SNP	HMMPfam_Osteoregulin	p.G456D	ENST00000424957.3	37	c.1367	CCDS3625.1	4	.	.	.	.	.	.	.	.	.	.	G	11.36	1.614641	0.28712	.	.	ENSG00000152595	ENST00000424957;ENST00000395102;ENST00000497649;ENST00000540395;ENST00000361056	T;T;T;T;T	0.48522	0.81;0.82;0.81;0.81;0.81	4.89	-1.04	0.10068	.	1.344650	0.05077	N	0.482659	T	0.36717	0.0977	L	0.48935	1.535	0.09310	N	1	B	0.30664	0.289	B	0.28784	0.094	T	0.17018	-1.0383	10	0.39692	T	0.17	-0.0867	3.1492	0.06481	0.3499:0.0:0.3497:0.3005	.	456	Q9NQ76	MEPE_HUMAN	D	456;487;432;343;456	ENSP00000416984:G456D;ENSP00000378534:G487D;ENSP00000422747:G432D;ENSP00000443491:G343D;ENSP00000354341:G456D	ENSP00000354341:G456D	G	+	2	0	MEPE	88986411	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.346000	0.07760	-0.508000	0.06540	0.563000	0.77884	GGC	-	NULL		0.393	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	protein_coding	OTTHUMT00000253038.1	G			88986411	1	no_errors	NM_020203.2	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	88767387	G	A	88767387	3	1	55	1	0	0	0	0	1	0	0	0	9478	1203	42	2	1377	2	MEPE	4	88767387	Missense_Mutation	SNP	G	TCGA-AB-2861-03B-01W-0728-08		88767387	102386889	5	577											
VARS	7407	genome.wustl.edu	37	6	31752211	31752211	+	Silent	SNP	G	G	A	rs369896276		TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr6:31752211G>A	ENST00000375663.3	-	12	1976	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	VARS_ENST00000482996.1_5'Flank|VARS_ENST00000444930.2_Silent_p.F217F	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	512					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGAGGACCCCGAACTCCACCT	0.597																																						dbGAP											0			6						G		0,4406		0,0,2203	79	82	81		1536	1.9	1	6		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	VARS	NM_006295.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		512/1265	31752211	1,13005	2203	4300	6503	31860190	SO:0001819	synonymous_variant	0			BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	12651	protein-coding gene	gene with protein product	"valine tRNA ligase 1, cytoplasmic"	192150	"valyl-tRNA synthetase 2"	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1536C>T	6.37:g.31752211G>A		110	2.63	3		65	56.67	85	31860190	15	44.44	12	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,HMMPfam_GST_N,HMMPfam_GST_C,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase	p.F512	ENST00000375663.3	37	c.1536	CCDS34412.1	6																																																																																			-	HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase		0.597	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS	protein_coding	OTTHUMT00000076619.2	G	NM_006295		31860190	-1	no_errors	NM_006295.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	31752211	G	A	31752211	2	1	55	1	0	0	0	0	0	0	0	1	17120	1049	37	1		1	VARS	6	31752211	Silent	SNP	G	TCGA-AB-2861-03B-01W-0728-08		31752211	139362856	6	578											
PGM3	5238	genome.wustl.edu	37	6	83881683	83881683	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr6:83881683A>T	ENST00000283977.4	-	10	1221	c.1095T>A	c.(1093-1095)gaT>gaA	p.D365E	PGM3_ENST00000512866.1_Missense_Mutation_p.D446E|PGM3_ENST00000513973.1_Missense_Mutation_p.D446E|PGM3_ENST00000506587.1_Missense_Mutation_p.D474E					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		TGTTTGGAAGATCTGTATAGA	0.383																																						dbGAP											0			6											122	112	116					6																	83881683		2203	4300	6503	83938402	SO:0001583	missense	0			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"acetylglucosamine phosphomutase"	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.1095T>A	6.37:g.83881683A>T	ENSP00000283977:p.Asp365Glu	219	2.65	6		6	40	4	83938402	96	44.51	77		Missense_Mutation	SNP	HMMPfam_PGM_PMM_IV,HMMPfam_PGM_PMM_I,superfamily_Phosphoglucomutase first 3 domains,PatternScan_PGM_PMM,superfamily_Phosphoglucomutase C-terminal domain	p.D446E	ENST00000283977.4	37	c.1338		6	.	.	.	.	.	.	.	.	.	.	A	13.77	2.337034	0.41398	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000509219	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	5.79	-5.46	0.02608	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.67953	2.075	0.58432	D	0.999991	P;B;D	0.89917	0.735;0.395;1.0	P;P;D	0.77004	0.779;0.646;0.989	T	0.60915	-0.7168	10	0.37606	T	0.19	-38.4187	16.472	0.84114	0.4227:0.0:0.5773:0.0	.	474;474;446	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	E	446;446;365;474;77	ENSP00000424874:D446E;ENSP00000421565:D446E;ENSP00000283977:D365E;ENSP00000425809:D474E;ENSP00000423389:D77E	ENSP00000283977:D365E	D	-	3	2	PGM3	83938402	0.984000	0.35163	0.490000	0.27465	0.480000	0.33159	0.259000	0.18405	-1.070000	0.03149	-0.899000	0.02877	GAT	-	superfamily_Phosphoglucomutase C-terminal domain		0.383	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	PGM3	protein_coding	OTTHUMT00000366385.2	A	NM_015599		83938402	-1	no_errors	NM_015599.1	genbank	human	provisional	54_36p	missense	SNP	0.937	T	T	83881683	A	T	83881683	3	4	55	1	0	0	0	0	1	0	0	0	11800	330	12	5	302	5	PGM3	6	83881683	Missense_Mutation	SNP	A	TCGA-AB-2861-03B-01W-0728-08	52129472	83881683	87233384	7	579											
HDAC2	3066	genome.wustl.edu	37	6	114274557	114274557	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr6:114274557C>T	ENST00000519065.1	-	6	899	c.523G>A	c.(523-525)Gat>Aat	p.D175N	HDAC2_ENST00000398283.2_Missense_Mutation_p.D269N|HDAC2_ENST00000519108.1_Missense_Mutation_p.D145N|HDAC2_ENST00000368632.2_Missense_Mutation_p.D145N			Q92769	HDAC2_HUMAN	histone deacetylase 2	175	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ATATCTATATCAATATATAAG	0.343																																						dbGAP											0			6											106	101	103					6																	114274557		1828	4073	5901	114381250	SO:0001583	missense	0			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.523G>A	6.37:g.114274557C>T	ENSP00000430432:p.Asp175Asn	90	0	0		58	40.82	40	114381250	80	34.15	42	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	HMMPfam_Hist_deacetyl,superfamily_SSF52768	p.D269N	ENST00000519065.1	37	c.805	CCDS43493.2	6	.	.	.	.	.	.	.	.	.	.	C	36	5.755796	0.96898	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58	5.76	5.76	0.90799	Histone deacetylase domain (2);	0.073664	0.56097	D	0.000037	D	0.98902	0.9628	H	0.99770	4.765	0.80722	D	1	D;D	0.76494	0.999;0.992	D;D	0.81914	0.995;0.933	D	0.99167	1.0863	10	0.87932	D	0	-41.1835	20.3431	0.98773	0.0:1.0:0.0:0.0	.	145;175	B3KRS5;Q92769	.;HDAC2_HUMAN	N	175;269;145;145	ENSP00000430432:D175N;ENSP00000381331:D269N;ENSP00000430008:D145N;ENSP00000357621:D145N	ENSP00000357621:D145N	D	-	1	0	HDAC2	114381250	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	GAT	-	HMMPfam_Hist_deacetyl,superfamily_SSF52768		0.343	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC2	protein_coding	OTTHUMT00000041909.2	C			114381250	-1	no_errors	NM_001527.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	114274557	C	T	114274557	3	4	55	1	0	0	0	0	1	0	0	0	7007	826	29	2	979	2	HDAC2	6	114274557	Missense_Mutation	SNP	C	TCGA-AB-2861-03B-01W-0728-08	30392874	114274557	56840510	8	580											
ARHGEF5	7984	genome.wustl.edu	37	7	144062359	144062359	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr7:144062359G>A	ENST00000056217.5	+	2	2771	c.2597G>A	c.(2596-2598)cGg>cAg	p.R866Q	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	866					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAGCACTCGGGGAGGACAT	0.607																																						dbGAP											0			7											79	91	87					7																	144062359		2202	4298	6500	143693292	SO:0001583	missense	0			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"Rho guanine nucleotide exchange factors"	13209	protein-coding gene	gene with protein product	"transforming immortalized mammary oncogene", "guanine nucleotide regulatory protein TIM"	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2597G>A	7.37:g.144062359G>A	ENSP00000056217:p.Arg866Gln	573	0	0					143693292	475	12.04	65	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),PatternScan_DH_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_SH3_2,superfamily_PH domain-like	p.R866Q	ENST00000056217.5	37	c.2597	CCDS34771.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.005|0.005	-2.178615|-2.178615	0.00308|0.00308	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|T	.|0.70164	.|-0.46	4.27|4.27	1.55|1.55	0.23275|0.23275	.|.	.|0.846688	.|0.09883	.|N	.|0.743423	T|T	0.27349|0.27349	0.0671|0.0671	N|N	0.00926|0.00926	-1.1|-1.1	0.26965|0.26965	N|N	0.965715|0.965715	.|B	.|0.06786	.|0.001	.|B	.|0.01281	.|0.0	T|T	0.33777|0.33777	-0.9855|-0.9855	5|10	.|0.02654	.|T	.|1	-2.6284|-2.6284	3.2822|3.2822	0.06920|0.06920	0.6848:0.0:0.1135:0.2017|0.6848:0.0:0.1135:0.2017	.|.	.|866	.|Q12774	.|ARHG5_HUMAN	R|Q	120|866	.|ENSP00000056217:R866Q	.|ENSP00000056217:R866Q	G|R	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693292|143693292	0.360000|0.360000	0.24964|0.24964	0.245000|0.245000	0.24217|0.24217	0.018000|0.018000	0.09664|0.09664	2.614000|2.614000	0.46359|0.46359	0.172000|0.172000	0.19760|0.19760	-0.474000|-0.474000	0.04947|0.04947	GGG|CGG	-	NULL		0.607	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	protein_coding	OTTHUMT00000349981.1	G	NM_005435		143693292	1	no_errors	NM_005435.3	genbank	human	reviewed	54_36p	missense	SNP	0.023	A	A	144062359	G	A	144062359	3	1	55	1	0	0	0	0	1	0	0	0	909	1116	39	1	2599	1	ARHGEF5	7	144062359	Missense_Mutation	SNP	G	TCGA-AB-2861-03B-01W-0728-08		144062359	15076304	9	581											
TUSC3	7991	genome.wustl.edu	37	8	15480637	15480637	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr8:15480637C>T	ENST00000503731.1	+	2	335	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	TUSC3_ENST00000509380.1_Missense_Mutation_p.R63C|TUSC3_ENST00000382020.4_Missense_Mutation_p.R63C|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000506802.1_Missense_Mutation_p.R63C	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	63	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GAGTTCCAGACGCTCAATCTT	0.368																																						dbGAP											0			8											70	71	70					8																	15480637		2203	4300	6503	15525008	SO:0001583	missense	0			AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"oligosaccharyltransferase 3 homolog A (S. cerevisiae)"	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.187C>T	8.37:g.15480637C>T	ENSP00000424544:p.Arg63Cys	86	0	0					15525008	108	29.87	46	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Missense_Mutation	SNP	HMMPfam_OST3_OST6,superfamily_Thioredoxin-like	p.R63C	ENST00000503731.1	37	c.187	CCDS5994.1	8	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556328	0.86231	.	.	ENSG00000104723	ENST00000382020;ENST00000506802;ENST00000509380;ENST00000503731	T;T;T;T	0.48522	0.83;0.81;0.83;0.83	5.59	5.59	0.84812	Thioredoxin-like fold (2);	0.045721	0.85682	D	0.000000	T	0.58524	0.2128	L	0.38175	1.15	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79784	0.962;0.972;0.992;0.943;0.978;0.993	T	0.58555	-0.7616	10	0.62326	D	0.03	-12.9411	13.8712	0.63619	0.1524:0.8476:0.0:0.0	.	63;63;63;63;63;63	D6RDV0;D6RIY7;Q13454-2;Q13454;D6RA37;A8MSM0	.;.;.;TUSC3_HUMAN;.;.	C	63	ENSP00000371450:R63C;ENSP00000425777:R63C;ENSP00000423426:R63C;ENSP00000424544:R63C	ENSP00000221167:R63C	R	+	1	0	TUSC3	15525008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.804000	0.96469	0.650000	0.86243	CGC	-	HMMPfam_OST3_OST6,superfamily_Thioredoxin-like		0.368	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TUSC3	protein_coding	OTTHUMT00000365367.1	C	NM_006765		15525008	1	no_errors	NM_006765.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	15480637	C	T	15480637	3	4	55	1	0	0	0	0	1	0	0	0	16775	536	19	1	193	1	TUSC3	8	15480637	Missense_Mutation	SNP	C	TCGA-AB-2861-03B-01W-0728-08		15480637	130883385	10	582											
BNC2	54796	genome.wustl.edu	37	9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr9:16436735C>T	ENST00000380672.4	-	6	1514	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_ENST00000380666.2_Missense_Mutation_p.R486H|BNC2_ENST00000380667.2_Missense_Mutation_p.R419H|BNC2_ENST00000545497.1_Missense_Mutation_p.R391H	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463																																						dbGAP											0			9											143	133	137					9																	16436735		2203	4300	6503	16426735	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"Zinc fingers, C2H2-type"	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1457G>A	9.37:g.16436735C>T	ENSP00000370047:p.Arg486His	648	0.46	3					16426735	127	26.16	45		Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R486H	ENST00000380672.4	37	c.1457	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.973250	0.74246	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.88	5.88	0.94601	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	M	0.74467	2.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.997;0.996;1.0;0.996;0.98;0.998;0.994;0.998	T	0.60188	-0.7312	10	0.72032	D	0.01	-12.1064	20.2422	0.98381	0.0:1.0:0.0:0.0	.	391;419;486;312;486;443;486;391;251	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	H	486;443;419;391;312;486;486	ENSP00000370047:R486H;ENSP00000408370:R443H;ENSP00000370042:R419H;ENSP00000444640:R391H;ENSP00000370041:R486H	ENSP00000370041:R486H	R	-	2	0	BNC2	16426735	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	7.818000	0.86416	2.782000	0.95742	0.655000	0.94253	CGT	-	HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.463	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	protein_coding	OTTHUMT00000216901.5	C	NM_017637		16426735	-1	no_errors	NM_017637.5	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	16436735	C	T	16436735	3	4	55	1	0	0	0	0	1	0	0	0	1475	536	19	1	1850	1	BNC2	9	16436735	Missense_Mutation	SNP	C	TCGA-AB-2861-03B-01W-0728-08		16436735	124776696	11	583											
BTBD16	118663	genome.wustl.edu	37	10	124034613	124034613	+	Splice_Site	SNP	C	C	T	rs202065129		TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr10:124034613C>T	ENST00000260723.4	+	2	268	c.17C>T	c.(16-18)aCg>aTg	p.T6M	BTBD16_ENST00000368994.2_Splice_Site_p.T6M	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	6										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				ATGTCGAACACGGTGAGTAGA	0.408																																						dbGAP											0			10						T	MET/THR	0,4406		0,0,2203	199	180	186		17	-2.9	0	10		186	1,8599	1.2+/-3.3	0,1,4299	yes	missense-near-splice	BTBD16	NM_144587.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	6/507	124034613	1,13005	2203	4300	6503	124024603	SO:0001630	splice_region_variant	0			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"BTB/POZ domain containing"	26340	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 87"	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.18+1C>T	10.37:g.124034613C>T		353	0.28	1					124024603	102	41.71	73	A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	superfamily_POZ domain,HMMPfam_BTB	p.T6M	ENST00000260723.4	37	c.17	CCDS31301.1	10	.	.	.	.	.	.	.	.	.	.	c	6.082	0.383367	0.11524	0.0	1.16E-4	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.18338	2.24;2.22	3.74	-2.88	0.05682	.	2.739860	0.01330	N	0.011223	T	0.07683	0.0193	N	0.08118	0	0.09310	N	1	B;B	0.19583	0.016;0.037	B;B	0.12156	0.001;0.007	T	0.20571	-1.0271	10	0.46703	T	0.11	0.321	0.2086	0.00153	0.2967:0.2708:0.1455:0.287	.	6;6	Q32M84-2;Q32M84	.;BTBDG_HUMAN	M	6	ENSP00000260723:T6M;ENSP00000357990:T6M	ENSP00000260723:T6M	T	+	2	0	BTBD16	124024603	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.104000	0.03326	-0.648000	0.05437	-0.735000	0.03563	ACG	-	NULL		0.408	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	protein_coding	OTTHUMT00000050780.3	C	NM_144587	Missense_Mutation	124024603	1	no_errors	NM_144587.2	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	124034613	C	T	124034613	5	4	55	1	0	0	0	0	0	0	1	0	1541	550	19	1	19	1	BTBD16	10	124034613	Splice_Site	SNP	C	TCGA-AB-2861-03B-01W-0728-08		124034613	11500134	12	584											
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91	81	85					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	30	3.23	1		18	33.33	9	25289551	35	30	15	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12V	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25289551	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25398284	C	A	25398284	3	1	55	1	0	0	0	0	1	0	0	0	8438	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-AB-2861-03B-01W-0728-08		25398284	108453611	13	585											
MEFV	4210	genome.wustl.edu	37	16	3294587	3294587	+	Splice_Site	SNP	C	C	T			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr16:3294587C>T	ENST00000219596.1	-	7	1651	c.1612G>A	c.(1612-1614)Gct>Act	p.A538T	MEFV_ENST00000536379.1_Splice_Site_p.A327T|MEFV_ENST00000541159.1_Splice_Site_p.A327T|MEFV_ENST00000339854.4_Splice_Site_p.A358T	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	538	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						ACTGTCTTAGCCCTAGAGACA	0.517																																						dbGAP											0			16											99	94	95					16																	3294587		2197	4300	6497	3234588	SO:0001630	splice_region_variant	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1611-1G>A	16.37:g.3294587C>T		205	6.82	15		10	33.33	5	3234588	22	58.49	31	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMPfam_PAAD_DAPIN,HMMSmart_SM00589,superfamily_DEATH domain,HMMSmart_SM00449,superfamily_B-box zinc-binding domain	p.A538T	ENST00000219596.1	37	c.1612	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669846	0.29693	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64260	-0.09;0.33;0.27;0.34	5.07	4.12	0.48240	.	0.407506	0.20986	N	0.082122	T	0.56717	0.2004	M	0.72118	2.19	0.80722	D	1	B	0.29909	0.261	B	0.22880	0.042	T	0.57347	-0.7827	10	0.42905	T	0.14	-13.5867	9.1166	0.36762	0.0:0.9021:0.0:0.0979	.	538	O15553	MEFV_HUMAN	T	538;538;358;327;327;327	ENSP00000219596:A538T;ENSP00000339639:A358T;ENSP00000438711:A327T;ENSP00000445079:A327T	ENSP00000219596:A538T	A	-	1	0	MEFV	3234588	1.000000	0.71417	0.993000	0.49108	0.565000	0.35776	1.350000	0.34010	1.376000	0.46267	0.563000	0.77884	GCT	-	NULL		0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	protein_coding	OTTHUMT00000251464.1	C	NM_000243	Missense_Mutation	3234588	-1	no_errors	NM_000243.2	genbank	human	reviewed	54_36p	missense	SNP	0.911	T	T	3294587	C	T	3294587	5	4	55	1	0	0	0	0	0	0	1	0	9459	753	26	2	749	2	MEFV	16	3294587	Splice_Site	SNP	C	TCGA-AB-2861-03B-01W-0728-08		3294587	87060166	14	586											
NOMO2	283820	genome.wustl.edu	37	16	18532148	18532148	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr16:18532148C>T	ENST00000381474.3	-	19	2277	c.2212G>A	c.(2212-2214)Gtg>Atg	p.V738M	NOMO2_ENST00000543392.1_Missense_Mutation_p.V571M|NOMO2_ENST00000330537.6_Missense_Mutation_p.V738M	NM_001004060.1	NP_001004060.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	738						endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.V738M(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						ATCTCCTGCACGGGAGGCTTG	0.552																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)	16											274	277	276					16																	18532148		2196	4297	6493	18439649	SO:0001583	missense	0			AL512687	CCDS10570.1, CCDS32394.1	16p12.3	2008-02-05			ENSG00000185164	ENSG00000185164			22652	protein-coding gene	gene with protein product		609158				15257293	Standard	NM_001004060		Approved	NOMO, PM5	uc002dfe.3	Q5JPE7	OTTHUMG00000131366	ENST00000381474.3:c.2212G>A	16.37:g.18532148C>T	ENSP00000370883:p.Val738Met	517	4.42	24		65	42.48	48	18439649	97	26.52	35	Q4G177	Missense_Mutation	SNP	HMMPfam_Cna_B,superfamily_Carboxypeptidase regulatory domain,superfamily_Starch-binding domain-like	p.V738M	ENST00000381474.3	37	c.2212	CCDS32394.1	16	.	.	.	.	.	.	.	.	.	.	.	9.246	1.039509	0.19669	.	.	ENSG00000185164	ENST00000330537;ENST00000381474;ENST00000543392	T;T;T	0.04917	3.56;3.53;3.53	3.37	2.41	0.29592	.	0.523027	0.20259	N	0.095907	T	0.03608	0.0103	N	0.08118	0	0.40773	D	0.983102	P;P	0.48998	0.903;0.918	B;B	0.41646	0.362;0.212	T	0.56390	-0.7987	10	0.41790	T	0.15	-2.7384	9.9589	0.41684	0.0:0.8966:0.0:0.1034	.	571;738	Q4G177;Q5JPE7	.;NOMO2_HUMAN	M	738;738;571	ENSP00000331851:V738M;ENSP00000370883:V738M;ENSP00000439970:V571M	ENSP00000331851:V738M	V	-	1	0	NOMO2	18439649	0.956000	0.32656	0.267000	0.24556	0.218000	0.24690	2.603000	0.46266	0.724000	0.32296	0.455000	0.32223	GTG	-	NULL		0.552	NOMO2-002	KNOWN	basic|CCDS	protein_coding	NOMO2	protein_coding	OTTHUMT00000435858.1	C	NM_001004060		18439649	-1	no_errors	NM_001004060.1	genbank	human	reviewed	54_36p	missense	SNP	0.986	T	T	18532148	C	T	18532148	3	4	55	1	0	0	0	0	1	0	0	0	10532	536	19	1	1651	1	NOMO2	16	18532148	Missense_Mutation	SNP	C	TCGA-AB-2861-03B-01W-0728-08	15237561	18532148	71822605	15	587											
CACNG1	786	genome.wustl.edu	37	17	65040806	65040806	+	Silent	SNP	C	C	T			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr17:65040806C>T	ENST00000226021.3	+	1	101	c.30C>T	c.(28-30)cgC>cgT	p.R10R		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	10					muscle contraction (GO:0006936)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transport (GO:0006810)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Diltiazem(DB00343)|Fluspirilene(DB04842)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGAAGGTCCGCGTGACCCTCT	0.652																																						dbGAP											0			17											90	76	80					17																	65040806		2203	4300	6503	62471268	SO:0001819	synonymous_variant	0			L07738	CCDS11668.1	17q24	2008-05-02				ENSG00000108878		"Calcium channel subunits"	1405	protein-coding gene	gene with protein product		114209		CACNLG		8395940	Standard	NM_000727		Approved		uc002jfu.3	Q06432		ENST00000226021.3:c.30C>T	17.37:g.65040806C>T		118	6.35	8					62471268	8	50	8	B2R9N3|Q14D59	Silent	SNP	HMMPfam_PMP22_Claudin	p.R10	ENST00000226021.3	37	c.30	CCDS11668.1	17																																																																																			-	HMMPfam_PMP22_Claudin		0.652	CACNG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG1	protein_coding	OTTHUMT00000447039.1	C			62471268	1	no_errors	NM_000727.2	genbank	human	reviewed	54_36p	silent	SNP	0.962	T	T	65040806	C	T	65040806	2	4	55	1	0	0	0	0	0	0	0	1	2556	755	27	1		1	CACNG1	17	65040806	Silent	SNP	C	TCGA-AB-2861-03B-01W-0728-08		65040806	16154404	16	588											
KATNAL2	83473	genome.wustl.edu	37	18	44625704	44625704	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr18:44625704C>A	ENST00000245121.5	+	13	1280	c.1086C>A	c.(1084-1086)caC>caA	p.H362Q	KATNAL2_ENST00000356157.7_Missense_Mutation_p.H434Q	NM_031303.2	NP_112593.2			katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGATCTACCACTGGCTGCCTC	0.612																																						dbGAP											0			18											54	50	52					18																	44625704		2203	4300	6503	42879702	SO:0001583	missense	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"ATPases / AAA-type"	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000245121.5:c.1086C>A	18.37:g.44625704C>A	ENSP00000245121:p.His362Gln	223	0.89	2		3	0	0	42879702	39	46.58	34		Missense_Mutation	SNP	HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540	p.H362Q	ENST00000245121.5	37	c.1086	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664023	0.29604	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.94650	-3.48;-3.48	4.75	1.89	0.25635	.	0.000000	0.85682	D	0.000000	D	0.89962	0.6867	L	0.43152	1.355	0.48087	D	0.999589	B	0.15930	0.015	B	0.12156	0.007	T	0.83208	-0.0075	10	0.27082	T	0.32	.	11.0751	0.48027	0.0:0.7189:0.0:0.2811	.	434	Q8IYT4	KATL2_HUMAN	Q	434;362	ENSP00000348478:H434Q;ENSP00000245121:H362Q	ENSP00000245121:H362Q	H	+	3	2	KATNAL2	42879702	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.780000	0.26760	0.531000	0.28639	0.555000	0.69702	CAC	-	HMMPfam_AAA,superfamily_SSF52540		0.612	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	protein_coding	OTTHUMT00000446138.2	C	NM_031303		42879702	1	no_errors	NM_031303.1	genbank	human	provisional	54_36p	missense	SNP	0.999	A	A	44625704	C	A	44625704	3	1	55	1	0	0	0	0	1	0	0	0	7986	564	20	4	1132	4	KATNAL2	18	44625704	Missense_Mutation	SNP	C	TCGA-AB-2861-03B-01W-0728-08		44625704	33451544	17	589											
GRWD1	83743	genome.wustl.edu	37	19	48954396	48954396	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr19:48954396G>A	ENST00000253237.5	+	6	1164	c.931G>A	c.(931-933)Gtc>Atc	p.V311I		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	311						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGATGGGGACGTCAATGTCAT	0.632																																						dbGAP											0			19											48	51	50					19																	48954396		2203	4300	6503	53646208	SO:0001583	missense	0			AF337808	CCDS12720.1	19q13.33	2013-05-21				ENSG00000105447		"WD repeat domain containing"	21270	protein-coding gene	gene with protein product	regulator of ribosome biogenesis 1 homolog (S. cerevisiae)	610597				15885502	Standard	NM_031485		Approved	WDR28, GRWD, RRB1	uc002pjd.2	Q9BQ67		ENST00000253237.5:c.931G>A	19.37:g.48954396G>A	ENSP00000253237:p.Val311Ile	122	0	0		48	31.43	22	53646208	21	25	7	Q8TF59	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.V311I	ENST00000253237.5	37	c.931	CCDS12720.1	19	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293376	0.40594	.	.	ENSG00000105447	ENST00000253237	T	0.67171	-0.25	3.84	2.8	0.32819	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.236850	0.35870	N	0.002930	T	0.55970	0.1954	L	0.35593	1.075	0.58432	D	0.999999	P	0.46952	0.887	P	0.44860	0.462	T	0.52675	-0.8544	10	0.33141	T	0.24	-32.8188	10.875	0.46906	0.0961:0.0:0.9039:0.0	.	311	Q9BQ67	GRWD1_HUMAN	I	311	ENSP00000253237:V311I	ENSP00000253237:V311I	V	+	1	0	GRWD1	53646208	0.998000	0.40836	0.822000	0.32727	0.309000	0.27889	2.836000	0.48183	0.989000	0.38761	-0.224000	0.12420	GTC	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.632	GRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRWD1	protein_coding	OTTHUMT00000466122.1	G	NM_031485		53646208	1	no_errors	NM_031485.2	genbank	human	provisional	54_36p	missense	SNP	0.990	A	A	48954396	G	A	48954396	3	1	55	1	0	0	0	0	1	0	0	0	6811	1145	40	1	953	1	GRWD1	19	48954396	Missense_Mutation	SNP	G	TCGA-AB-2861-03B-01W-0728-08		48954396	10174587	18	590											
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	T	rs371769427		TCGA-AB-2861-03B-01W-0728-08	TCGA-AB-2861-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6f4de42a-16ce-4536-b5a7-a9380540dda4	c2a59421-c7d4-4b57-a82d-ee675481ba9b	g.chr21:44524456G>T	ENST00000291552.4	-	2	193	c.101C>A	c.(100-102)tCt>tAt	p.S34Y	U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34Y	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	21											67	64	65					21																	44524456		2203	4300	6503	43397525	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>A	21.37:g.44524456G>T	ENSP00000291552:p.Ser34Tyr	175	2.76	5		103	52.31	113	43397525	15	33.33	8	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.S34Y	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962845	0.92791	.	.	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	Y	34	ENSP00000369629:S34Y;ENSP00000291552:S34Y	ENSP00000291552:S34Y	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	G	NM_006758		43397525	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	44524456	G	T	44524456	3	4	55	1	0	0	0	0	1	0	0	0	16818	942	33	4	720	4	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-AB-2861-03B-01W-0728-08		44524456	3605439	19	591											
BCAR3	8412	genome.wustl.edu	37	1	94048128	94048128	+	Silent	SNP	G	G	A			TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr1:94048128G>A	ENST00000370244.1	-	9	1704	c.1416C>T	c.(1414-1416)ggC>ggT	p.G472G	BCAR3_ENST00000370247.3_Silent_p.G381G|BCAR3_ENST00000370243.1_Silent_p.G472G|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_Silent_p.G148G|BCAR3_ENST00000260502.6_Silent_p.G472G	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	472					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		agtagttgacgccagagttcc	0.582																																						dbGAP											0			1											58	49	52					1																	94048128		2203	4300	6503	93820716	SO:0001819	synonymous_variant	0			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"SH2 domain containing"	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1416C>T	1.37:g.94048128G>A		150	0	0		1	0	0	93820716	97	37.58	59	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00147,superfamily_Ras GEF	p.G472	ENST00000370244.1	37	c.1416	CCDS745.1	1																																																																																			-	superfamily_Ras GEF		0.582	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	protein_coding	OTTHUMT00000028420.1	G			93820716	-1	no_errors	NM_003567.2	genbank	human	reviewed	54_36p	silent	SNP	0.782	A	A	94048128	G	A	94048128	2	1	56	1	0	0	0	0	0	0	0	1	1349	1074	38	1		1	BCAR3	1	94048128	Silent	SNP	G	TCGA-AB-2862-03B-01W-0728-08		94048128	155202493	1	592											
ADCY5	111	genome.wustl.edu	37	3	123071312	123071312	+	Silent	SNP	C	C	T	rs200302997		TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr3:123071312C>T	ENST00000462833.1	-	2	2463	c.1251G>A	c.(1249-1251)gcG>gcA	p.A417A	ADCY5_ENST00000470367.1_5'UTR|ADCY5_ENST00000491190.1_Silent_p.A50A|ADCY5_ENST00000309879.5_Silent_p.A67A	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	417					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGTGGAGCCGCGCCTGGATGC	0.617																																						dbGAP											0			3											56	56	56					3																	123071312		2203	4300	6503	124554002	SO:0001819	synonymous_variant	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"Adenylate cyclases"	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.1251G>A	3.37:g.123071312C>T		257	0.39	1					124554002	52	43.16	41	B7Z8A6|Q7RTV7|Q8NFM3	Silent	SNP	HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_DUF1053,PatternScan_GUANYLATE_CYCLASE_1	p.A417	ENST00000462833.1	37	c.1251	CCDS3022.1	3																																																																																			-	NULL		0.617	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	protein_coding	OTTHUMT00000355889.4	C	XM_171048		124554002	-1	no_errors	NM_183357.1	genbank	human	validated	54_36p	silent	SNP	0.445	T	T	123071312	C	T	123071312	2	4	56	1	0	0	0	0	0	0	0	1	297	755	27	1		1	ADCY5	3	123071312	Silent	SNP	C	TCGA-AB-2862-03B-01W-0728-08		123071312	74951118	2	593											
EYA4	2070	genome.wustl.edu	37	6	133789862	133789862	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr6:133789862C>A	ENST00000367895.5	+	11	1427	c.963C>A	c.(961-963)aaC>aaA	p.N321K	EYA4_ENST00000452339.2_Missense_Mutation_p.N267K|EYA4_ENST00000431403.2_Missense_Mutation_p.N321K|EYA4_ENST00000355167.3_Missense_Mutation_p.N321K|EYA4_ENST00000355286.6_Missense_Mutation_p.N298K|EYA4_ENST00000430974.2_Missense_Mutation_p.N267K|EYA4_ENST00000531901.1_Missense_Mutation_p.N321K|EYA4_ENST00000525849.1_Missense_Mutation_p.N298K	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	321					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GACTGACTAACCAACCAGGTA	0.428																																					Melanoma(57;398 1237 3528 4702 7415)	dbGAP											0			6											127	119	122					6																	133789862		2203	4298	6501	133831555	SO:0001583	missense	0			Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"Protein tyrosine phosphatases / Asp-based PTPs"	3522	protein-coding gene	gene with protein product		603550	"eyes absent (Drosophila) homolog 4", "eyes absent homolog 4 (Drosophila)"	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.963C>A	6.37:g.133789862C>A	ENSP00000356870:p.Asn321Lys	235	0	0					133831555	117	46.15	102	B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Missense_Mutation	SNP	HMMPfam_Hydrolase	p.N321K	ENST00000367895.5	37	c.963	CCDS5165.1	6	.	.	.	.	.	.	.	.	.	.	C	14.00	2.403392	0.42613	.	.	ENSG00000112319	ENST00000452339;ENST00000430974;ENST00000367895;ENST00000355167;ENST00000355286;ENST00000531901;ENST00000525849;ENST00000431403	T;T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.41	1.71	0.24356	.	2.456060	0.01047	N	0.004412	T	0.55862	0.1947	L	0.29908	0.895	0.30041	N	0.812628	B;B;B;B;B;B	0.17038	0.002;0.009;0.02;0.0;0.009;0.002	B;B;B;B;B;B	0.22152	0.023;0.038;0.014;0.0;0.038;0.023	T	0.36841	-0.9731	10	0.54805	T	0.06	-0.4818	7.0167	0.24892	0.0:0.5043:0.0:0.4957	.	321;267;267;298;321;321	F2Z2Y1;E7ESD5;E7EN58;O95677-2;O95677-4;O95677	.;.;.;.;.;EYA4_HUMAN	K	267;267;321;321;298;321;298;321	ENSP00000395916:N267K;ENSP00000388670:N267K;ENSP00000356870:N321K;ENSP00000347294:N321K;ENSP00000347434:N298K;ENSP00000432770:N321K;ENSP00000433219:N298K;ENSP00000404558:N321K	ENSP00000347294:N321K	N	+	3	2	EYA4	133831555	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	1.126000	0.31344	0.570000	0.29347	0.655000	0.94253	AAC	-	NULL		0.428	EYA4-001	KNOWN	basic|CCDS	protein_coding	EYA4	protein_coding	OTTHUMT00000042282.2	C	NM_004100		133831555	1	no_errors	NM_004100.4	genbank	human	reviewed	54_36p	missense	SNP	0.993	A	A	133789862	C	A	133789862	3	1	56	1	0	0	0	0	1	0	0	0	5331	506	18	4	1001	4	EYA4	6	133789862	Missense_Mutation	SNP	C	TCGA-AB-2862-03B-01W-0728-08		133789862	37325205	3	594											
HECW1	23072	genome.wustl.edu	37	7	43547679	43547679	+	Missense_Mutation	SNP	G	G	A	rs367661051		TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr7:43547679G>A	ENST00000395891.2	+	23	4420	c.3815G>A	c.(3814-3816)cGg>cAg	p.R1272Q	AC011738.4_ENST00000436105.1_RNA|HECW1_ENST00000453890.1_Missense_Mutation_p.R1238Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1272	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R1251Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCTATTCGCGGAAAGAGCTC	0.542																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)	7											80	82	81					7																	43547679		1962	4152	6114	43514204	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.3815G>A	7.37:g.43547679G>A	ENSP00000379228:p.Arg1272Gln	303	0	0					43514204	115	41.5	83	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB	p.R1272Q	ENST00000395891.2	37	c.3815	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	36	5.933450	0.97116	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.42131	0.98;0.98	5.85	5.85	0.93711	HECT (3);	0.000000	0.85682	D	0.000000	T	0.64068	0.2565	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.80764	0.994;0.892	T	0.63646	-0.6590	10	0.72032	D	0.01	.	20.1669	0.98153	0.0:0.0:1.0:0.0	.	1238;1272	B4DH42;Q76N89	.;HECW1_HUMAN	Q	1272;1238;1272	ENSP00000379228:R1272Q;ENSP00000407774:R1238Q	ENSP00000265522:R1272Q	R	+	2	0	HECW1	43514204	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.779000	0.99018	2.770000	0.95276	0.650000	0.86243	CGG	-	HMMSmart_HECTc,superfamily_HECT		0.542	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43514204	1	no_errors	NM_015052.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	43547679	G	A	43547679	3	1	56	1	0	0	0	0	1	0	0	0	7042	1116	39	1	3897	1	HECW1	7	43547679	Missense_Mutation	SNP	G	TCGA-AB-2862-03B-01W-0728-08		43547679	115590984	4	595											
TCERG1L	256536	genome.wustl.edu	37	10	132891487	132891487	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr10:132891487A>G	ENST00000368642.4	-	12	1784	c.1699T>C	c.(1699-1701)Ttc>Ctc	p.F567L	RP11-462G8.3_ENST00000436942.1_RNA	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	567	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		ATAAGTATGAATTGGTTGAAA	0.428																																						dbGAP											0			10											105	106	106					10																	132891487		2203	4300	6503	132781477	SO:0001583	missense	0			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.1699T>C	10.37:g.132891487A>G	ENSP00000357631:p.Phe567Leu	255	0	0					132781477	132	39.27	86	Q5VWI2|Q86XM8	Missense_Mutation	SNP	HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_FF,HMMSmart_FF,superfamily_FF	p.F567L	ENST00000368642.4	37	c.1699	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	A	28.3	4.908969	0.92107	.	.	ENSG00000176769	ENST00000368642	T	0.35421	1.31	4.82	4.82	0.62117	FF domain (4);	0.000000	0.53938	D	0.000051	T	0.37019	0.0988	M	0.71206	2.165	0.80722	D	1	P	0.34864	0.473	B	0.28638	0.092	T	0.40831	-0.9542	10	0.72032	D	0.01	-2.1305	13.573	0.61858	1.0:0.0:0.0:0.0	.	567	Q5VWI1	TCRGL_HUMAN	L	567	ENSP00000357631:F567L	ENSP00000357631:F567L	F	-	1	0	TCERG1L	132781477	1.000000	0.71417	0.995000	0.50966	0.993000	0.82548	7.501000	0.81600	1.801000	0.52704	0.460000	0.39030	TTC	-	HMMPfam_FF,HMMSmart_FF,superfamily_FF		0.428	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	protein_coding	OTTHUMT00000091619.2	A	NM_174937		132781477	-1	no_errors	NM_174937.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	132891487	A	G	132891487	3	3	56	1	0	0	0	0	1	0	0	0	15683	101	4	3	65	3	TCERG1L	10	132891487	Missense_Mutation	SNP	A	TCGA-AB-2862-03B-01W-0728-08		132891487	2643260	5	596											
KIAA1370	56204	genome.wustl.edu	37	15	52885895	52885895	+	Silent	SNP	A	A	G			TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr15:52885895A>G	ENST00000261844.7	-	10	2840	c.2688T>C	c.(2686-2688)atT>atC	p.I896I	FAM214A_ENST00000546305.2_Silent_p.I903I|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	896																	AACCATCAACAATGCCGAGAG	0.383																																						dbGAP											0			15											39	33	35					15																	52885895		1844	4074	5918	50673187	SO:0001819	synonymous_variant	0			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"KIAA1370"	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2688T>C	15.37:g.52885895A>G		113	0	0		14	41.67	10	50673187	89	31.62	43	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Silent	SNP	NULL	p.I896	ENST00000261844.7	37	c.2688	CCDS45263.1	15																																																																																			-	NULL		0.383	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1370	protein_coding	OTTHUMT00000419914.1	A	NM_019600		50673187	-1	no_errors	NM_019600.2	genbank	human	validated	54_36p	silent	SNP	0.992	G	G	52885895	A	G	52885895	2	3	56	1	0	0	0	0	0	0	0	1	8226	126	5	3		3	KIAA1370	15	52885895	Silent	SNP	A	TCGA-AB-2862-03B-01W-0728-08		52885895	49645497	6	597											
AKAP13	11214	genome.wustl.edu	37	15	86118413	86118413	+	Silent	SNP	G	G	A	rs374214307		TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr15:86118413G>A	ENST00000394518.2	+	6	809	c.714G>A	c.(712-714)ccG>ccA	p.P238P	AKAP13_ENST00000361243.2_Silent_p.P238P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	238					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						ATGAAATACCGTATGGAGACT	0.448																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0			15						G	,	2,4402	4.2+/-10.8	0,2,2200	143	137	139		714,714	-7.6	0	15		139	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous	AKAP13	NM_006738.4,NM_007200.3	,	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	,	238/2818,238/2814	86118413	2,13000	2202	4299	6501	83919417	SO:0001819	synonymous_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.714G>A	15.37:g.86118413G>A		202	0	0		4	33.33	2	83919417	145	37.55	89	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_PH,HMMSmart_PH,superfamily_ANK,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_RII_binding_1,superfamily_SSF50729,superfamily_SSF57889	p.P238	ENST00000394518.2	37	c.714	CCDS32319.1	15																																																																																			-	NULL		0.448	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	protein_coding	OTTHUMT00000417318.1	G	NM_007200		83919417	1	no_errors	NM_006738.4	genbank	human	reviewed	54_36p	silent	SNP	0.233	A	A	86118413	G	A	86118413	2	1	56	1	0	0	0	0	0	0	0	1	449	1132	40	1		1	AKAP13	15	86118413	Silent	SNP	G	TCGA-AB-2862-03B-01W-0728-08	33232518	86118413	16412979	7	598											
CSH2	1443	genome.wustl.edu	37	17	61950048	61950048	+	Silent	SNP	G	G	A			TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr17:61950048G>A	ENST00000392886.2	-	4	496	c.345C>T	c.(343-345)ccC>ccT	p.P115P	CSH2_ENST00000336844.5_Silent_p.P115P|CSH2_ENST00000345366.7_Intron|CSH2_ENST00000560142.1_Silent_p.P58P	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	115						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						GGAACCGCACGGGCTCCAGCC	0.592																																						dbGAP											0			17											8	9	9					17																	61950048		2152	4196	6348	59303780	SO:0001819	synonymous_variant	0			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"placental lactogen", "chorionic somatomammotropin B"	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.345C>T	17.37:g.61950048G>A		99	0	0					59303780	50	18.03	11	P01243|Q0VDB1|Q14407	Silent	SNP	HMMPfam_Hormone_1,superfamily_4-helical cytokines,PatternScan_SOMATOTROPIN_1,PatternScan_SOMATOTROPIN_2	p.P115	ENST00000392886.2	37	c.345	CCDS42369.1	17																																																																																			-	HMMPfam_Hormone_1,superfamily_4-helical cytokines		0.592	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	protein_coding	OTTHUMT00000417657.1	G	NM_020991		59303780	-1	no_errors	NM_020991.3	genbank	human	reviewed	54_36p	silent	SNP	0.987	A	A	61950048	G	A	61950048	2	1	56	1	0	0	0	0	0	0	0	1	3941	1103	39	1		1	CSH2	17	61950048	Silent	SNP	G	TCGA-AB-2862-03B-01W-0728-08		61950048	19245162	8	599											
NCCRP1	342897	genome.wustl.edu	37	19	39691373	39691373	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr19:39691373G>A	ENST00000339852.4	+	6	827	c.805G>A	c.(805-807)Gtg>Atg	p.V269M		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	269	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CGACTCCTCCGTGTCTGTGCA	0.622																																					Melanoma(107;1207 1556 14956 29427 52130)	dbGAP											0			19											138	137	137					19																	39691373		2203	4300	6503	44383213	SO:0001583	missense	0			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.805G>A	19.37:g.39691373G>A	ENSP00000342137:p.Val269Met	86	0	0					44383213	48	38.46	30	Q6NVV5	Missense_Mutation	SNP	HMMPfam_FBA,superfamily_Gal_bind_like	p.V269M	ENST00000339852.4	37	c.805	CCDS12529.1	19	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094920	0.56075	.	.	ENSG00000188505	ENST00000339852	T	0.54279	0.58	4.96	4.96	0.65561	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.065878	0.64402	D	0.000012	T	0.72859	0.3513	M	0.84683	2.71	0.44677	D	0.997661	D	0.89917	1.0	D	0.75484	0.986	T	0.77148	-0.2694	10	0.87932	D	0	-24.3437	10.8875	0.46976	0.0:0.0:0.812:0.188	.	269	Q6ZVX7	NCRP1_HUMAN	M	269	ENSP00000342137:V269M	ENSP00000342137:V269M	V	+	1	0	NCCRP1	44383213	1.000000	0.71417	0.998000	0.56505	0.359000	0.29487	5.132000	0.64758	2.319000	0.78375	0.484000	0.47621	GTG	-	HMMPfam_FBA,superfamily_Gal_bind_like		0.622	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCCRP1	protein_coding	OTTHUMT00000463829.1	G	NM_001001414		44383213	1	no_errors	NM_001001414.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	39691373	G	A	39691373	3	1	56	1	0	0	0	0	1	0	0	0	10213	1145	40	1	827	1	NCCRP1	19	39691373	Missense_Mutation	SNP	G	TCGA-AB-2862-03B-01W-0728-08		39691373	19437610	9	600											
ARFGEF2	10564	genome.wustl.edu	37	20	47589698	47589698	+	Silent	SNP	G	G	A			TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chr20:47589698G>A	ENST00000371917.4	+	12	1542	c.1542G>A	c.(1540-1542)gtG>gtA	p.V514V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	514	HUS; DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTGTGTTGTGGATATTTATG	0.348																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0			20											111	104	107					20																	47589698		2203	4300	6503	47023105	SO:0001819	synonymous_variant	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"A-kinase anchor proteins"	15853	protein-coding gene	gene with protein product	"Brefeldin A-inhibited guanine nucleotide-exchange protein 2"	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1542G>A	20.37:g.47589698G>A		134	0	0		11	0	0	47023105	104	39.43	69	Q5TFT9|Q9NTS1	Silent	SNP	HMMPfam_Sec7,HMMSmart_Sec7,superfamily_Sec7,HMMPfam_DUF1981,superfamily_ARM-type_fold	p.V514	ENST00000371917.4	37	c.1542	CCDS13411.1	20																																																																																			-	superfamily_ARM-type_fold		0.348	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	protein_coding	OTTHUMT00000079627.1	G	NM_006420		47023105	1	no_errors	NM_006420.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	47589698	G	A	47589698	2	1	56	1	0	0	0	0	0	0	0	1	853	1335	47	2		2	ARFGEF2	20	47589698	Silent	SNP	G	TCGA-AB-2862-03B-01W-0728-08		47589698	15435822	10	601											
TCEANC	170082	genome.wustl.edu	37	X	13680763	13680763	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2862-03B-01W-0728-08	TCGA-AB-2862-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2907d873-3189-4bbb-9c40-127d61225086	a8d14ea2-aa95-48c9-8c69-86b8ac62489a	g.chrX:13680763A>G	ENST00000380600.1	+	2	223	c.136A>G	c.(136-138)Aca>Gca	p.T46A	TCEANC_ENST00000545566.1_Missense_Mutation_p.T46A|TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Missense_Mutation_p.T46A|TCEANC_ENST00000314720.4_Missense_Mutation_p.T76A			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	46	TFIIS N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00649}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						TCTCCAGGAGACAGATGTGGT	0.423																																						dbGAP											0			X											91	85	87					X																	13680763		1920	4121	6041	13590684	SO:0001583	missense	0				CCDS48081.1, CCDS75954.1	Xp22.2	2009-01-30			ENSG00000176896	ENSG00000176896			28277	protein-coding gene	gene with protein product						12477932	Standard	XM_005274454		Approved	MGC17403	uc010neg.1	Q8N8B7	OTTHUMG00000021154	ENST00000380600.1:c.136A>G	X.37:g.13680763A>G	ENSP00000369974:p.Thr46Ala	179	0	0		5	0	0	13590684	107	34.13	57	A6NI06|B2RDM3	Missense_Mutation	SNP	HMMPfam_TFIIS_M,superfamily_Elongation factor TFIIS domain 2,HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70,HMMSmart_SM00510,superfamily_Zinc beta-ribbon	p.T76A	ENST00000380600.1	37	c.226		X	.	.	.	.	.	.	.	.	.	.	A	21.2	4.115702	0.77323	.	.	ENSG00000176896	ENST00000545566;ENST00000544987;ENST00000314720;ENST00000380600	T;T;T;T	0.62788	0.01;0.01;0.0;0.01	5.28	5.28	0.74379	Transcription factor IIS, N-terminal (4);	0.000000	0.64402	D	0.000001	T	0.71169	0.3308	L	0.36672	1.1	0.46874	D	0.999234	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74621	-0.3604	10	0.87932	D	0	-6.1435	14.331	0.66556	1.0:0.0:0.0:0.0	.	76;46	Q8N8B7-2;Q8N8B7	.;TEANC_HUMAN	A	46;46;76;46	ENSP00000438952:T46A;ENSP00000440038:T46A;ENSP00000313886:T76A;ENSP00000369974:T46A	ENSP00000313886:T76A	T	+	1	0	TCEANC	13590684	1.000000	0.71417	0.991000	0.47740	0.971000	0.66376	7.564000	0.82326	1.763000	0.52060	0.486000	0.48141	ACA	-	HMMPfam_TFIIS,superfamily_Conserved domain common to transcription factors TFIIS elongin A CRSP70		0.423	TCEANC-002	KNOWN	basic|appris_principal	protein_coding	TCEANC	protein_coding	OTTHUMT00000055796.1	A	NM_152634		13590684	1	no_errors	NM_152634.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	13680763	A	G	13680763	3	3	56	1	0	0	0	0	1	0	0	0	15675	275	10	3	232	3	TCEANC	23	13680763	Missense_Mutation	SNP	A	TCGA-AB-2862-03B-01W-0728-08		13680763	141589797	11	602											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	149	11.83	20		21	55.1	27	25310746	89	47.34	80	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	57	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2863-03D-01W-0755-09		25457242	217742131	1	603											
FAM176A	84141	genome.wustl.edu	37	2	75720722	75720722	+	Silent	SNP	T	T	C			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr2:75720722T>C	ENST00000233712.1	-	4	536	c.99A>G	c.(97-99)cgA>cgG	p.R33R	EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000410071.1_Silent_p.R33R|EVA1A_ENST00000410010.1_Silent_p.R21R|EVA1A_ENST00000393913.3_Silent_p.R33R|EVA1A_ENST00000410113.1_Silent_p.R33R	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	33	Necessary for the localization and biological activity.				apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)											ACAGAGCTGCTCGCTCAGGAT	0.517																																						dbGAP											0			2											26	25	25					2																	75720722		2203	4300	6503	75574230	SO:0001819	synonymous_variant	0			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"transmembrane protein 166", "family with sequence similarity 176, member A"	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.99A>G	2.37:g.75720722T>C		122	11.51	16					75574230	141	42.75	109	D6W5J3|Q9HC41	Silent	SNP	NULL	p.R33	ENST00000233712.1	37	c.99	CCDS1959.1	2																																																																																			-	NULL		0.517	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM176A	protein_coding	OTTHUMT00000328707.1	T	NM_032181		75574230	-1	no_errors	NM_032181.1	genbank	human	validated	54_36p	silent	SNP	0.991	C	C	75720722	T	C	75720722	2	2	57	1	0	0	0	0	0	0	0	1	5499	1538	54	3		3	FAM176A	2	75720722	Silent	SNP	T	TCGA-AB-2863-03D-01W-0755-09	50263480	75720722	167478651	2	604											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	67	15	12		73	52.29	80	208821358	63	47.11	57	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	57	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2863-03D-01W-0755-09	133392391	209113113	34086260	3	605											
FN1	2335	genome.wustl.edu	37	2	216238072	216238072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr2:216238072C>A	ENST00000359671.1	-	38	6212	c.5947G>T	c.(5947-5949)Gag>Tag	p.E1983*	FN1_ENST00000346544.3_Nonsense_Mutation_p.E1983*|FN1_ENST00000357009.2_Nonsense_Mutation_p.E1983*|FN1_ENST00000354785.4_Nonsense_Mutation_p.E2074*|FN1_ENST00000336916.4_Nonsense_Mutation_p.E1983*|FN1_ENST00000432072.2_Nonsense_Mutation_p.E1984*|FN1_ENST00000323926.6_Nonsense_Mutation_p.E2074*|FN1_ENST00000345488.5_Nonsense_Mutation_p.E1983*|FN1_ENST00000421182.1_Nonsense_Mutation_p.E1893*|FN1_ENST00000357867.4_Nonsense_Mutation_p.E1893*|FN1_ENST00000446046.1_Nonsense_Mutation_p.E1983*|FN1_ENST00000443816.1_Nonsense_Mutation_p.E1893*|FN1_ENST00000356005.4_Nonsense_Mutation_p.E1893*			P02751	FINC_HUMAN	fibronectin 1	1983	Binds to FBLN1.|Fibronectin type-III 15. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	ATCAGGGGCTCGCTCTTCTGA	0.408																																						dbGAP											0			2											184	186	185					2																	216238072		2203	4300	6503	215946317	SO:0001587	stop_gained	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"Fibronectin type III domain containing", "Endogenous ligands"	3778	protein-coding gene	gene with protein product	"migration-stimulating factor", "cold-insoluble globulin"	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5947G>T	2.37:g.216238072C>A	ENSP00000352696:p.Glu1983*	432	11.02	54		1	50	1	215946317	143	40.89	101	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	HMMPfam_fn1,HMMSmart_SM00058,PatternScan_FN1_1,HMMPfam_fn2,HMMSmart_SM00059,PatternScan_FN2_1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_EGF_1,superfamily_Kringle-like,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_Fibronectin type I module	p.E2074*	ENST00000359671.1	37	c.6220		2	.	.	.	.	.	.	.	.	.	.	C	49	15.170673	0.99824	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923;ENST00000438981	.	.	.	6.17	6.17	0.99709	.	0.075887	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1893;2074;1983;1893;2074;1984;1983;1983;1983;1983;1983;1893;1984;1893;700;102	.	ENSP00000265313:E1984X	E	-	1	0	FN1	215946317	0.995000	0.38212	1.000000	0.80357	0.982000	0.71751	2.923000	0.48868	2.941000	0.99782	0.655000	0.94253	GAG	-	HMMSmart_SM00060,superfamily_Fibronectin type III		0.408	FN1-204	KNOWN	basic	protein_coding	FN1	protein_coding		C	NM_212476		215946317	-1	no_errors	NM_212482.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	216238072	C	A	216238072	4	1	57	1	0	0	0	0	0	1	0	0	5962	893	31	4	1245	4	FN1	2	216238072	Nonsense_Mutation	SNP	C	TCGA-AB-2863-03D-01W-0755-09	7124959	216238072	26961301	4	606											
ZMYND10	51364	genome.wustl.edu	37	3	50380814	50380814	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr3:50380814A>C	ENST00000231749.3	-	5	1706	c.434T>G	c.(433-435)cTg>cGg	p.L145R	RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10_ENST00000360165.3_Missense_Mutation_p.L145R|ZMYND10-AS1_ENST00000440013.1_RNA	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	145					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCAGGGTCAGTTTGCGGTG	0.582										TSP Lung(30;0.18)																												dbGAP											0			3											86	85	85					3																	50380814		2203	4300	6503	50355818	SO:0001583	missense	0			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"Zinc fingers, MYND-type"	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.434T>G	3.37:g.50380814A>C	ENSP00000231749:p.Leu145Arg	123	6.82	9		0	100	2	50355818	68	40.34	48	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1	p.L145R	ENST00000231749.3	37	c.434	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314840	0.81358	.	.	ENSG00000004838	ENST00000231749;ENST00000360165;ENST00000442887	T;T;T	0.35605	1.3;1.3;1.3	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.65101	0.2659	M	0.86420	2.815	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.72737	-0.4203	10	0.87932	D	0	-11.5393	14.9974	0.71443	1.0:0.0:0.0:0.0	.	145;145	O75800-2;O75800	.;ZMY10_HUMAN	R	145;145;102	ENSP00000231749:L145R;ENSP00000353289:L145R;ENSP00000393687:L102R	ENSP00000231749:L145R	L	-	2	0	ZMYND10	50355818	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.332000	0.96446	1.955000	0.56771	0.459000	0.35465	CTG	-	NULL		0.582	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	protein_coding	OTTHUMT00000346376.1	A	NM_015896		50355818	-1	no_errors	NM_015896.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	50380814	A	C	50380814	3	2	57	1	0	0	0	0	1	0	0	0	17702	188	7	5	920	5	ZMYND10	3	50380814	Missense_Mutation	SNP	A	TCGA-AB-2863-03D-01W-0755-09		50380814	147641616	5	607											
HCLS1	3059	genome.wustl.edu	37	3	121377178	121377178	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr3:121377178A>C	ENST00000314583.3	-	2	108	c.17T>G	c.(16-18)gTg>gGg	p.V6G	HCLS1_ENST00000428394.2_Missense_Mutation_p.V6G|RNU4-62P_ENST00000410125.1_RNA	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	6					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		ATCATGGCCCACTACAGACTT	0.463																																						dbGAP											0			3											176	157	164					3																	121377178		2203	4300	6503	122859868	SO:0001583	missense	0				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"cortactin-like"	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.17T>G	3.37:g.121377178A>C	ENSP00000320176:p.Val6Gly	376	6.86	28		54	33.33	27	122859868	181	40.72	125	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_HS1_rep	p.V6G	ENST00000314583.3	37	c.17	CCDS3003.1	3	.	.	.	.	.	.	.	.	.	.	A	18.25	3.581744	0.65992	.	.	ENSG00000180353	ENST00000314583;ENST00000428394	T;T	0.24538	1.85;1.85	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.47619	0.1455	M	0.70595	2.14	0.80722	D	1	B;D;D	0.89917	0.044;0.982;1.0	B;P;D	0.73708	0.039;0.683;0.981	T	0.49844	-0.8896	10	0.87932	D	0	-15.2178	11.0072	0.47641	1.0:0.0:0.0:0.0	.	6;6;6	B4DTP2;E7EVW7;P14317	.;.;HCLS1_HUMAN	G	6	ENSP00000320176:V6G;ENSP00000387645:V6G	ENSP00000320176:V6G	V	-	2	0	HCLS1	122859868	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.078000	0.57606	2.097000	0.63578	0.528000	0.53228	GTG	-	NULL		0.463	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	protein_coding	OTTHUMT00000355144.1	A	NM_005335		122859868	-1	no_errors	NM_005335.4	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	121377178	A	C	121377178	3	2	57	1	0	0	0	0	1	0	0	0	6995	159	6	5	1495	5	HCLS1	3	121377178	Missense_Mutation	SNP	A	TCGA-AB-2863-03D-01W-0755-09	70996364	121377178	76645252	6	608											
MCHR2	84539	genome.wustl.edu	37	6	100390958	100390958	+	Missense_Mutation	SNP	G	G	A	rs267600747		TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr6:100390958G>A	ENST00000281806.2	-	4	768	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	MCHR2_ENST00000369212.2_Missense_Mutation_p.R152W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	152			R -> Q (no changes in receptor binding or functional signaling; dbSNP:rs62434070). {ECO:0000269|PubMed:15340116}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATTGATCCGGATGGTCTTG	0.473																																						dbGAP											0			6											147	137	141					6																	100390958		2203	4300	6503	100497679	SO:0001583	missense	0			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"GPCR / Class A : MCH receptors"	20867	protein-coding gene	gene with protein product		606111	"G protein-coupled receptor 145"	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.454C>T	6.37:g.100390958G>A	ENSP00000281806:p.Arg152Trp	164	8.89	16					100497679	82	46.79	73	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.R152W	ENST00000281806.2	37	c.454	CCDS5044.1	6	.	.	.	.	.	.	.	.	.	.	G	12.28	1.890903	0.33348	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.72282	-0.64;-0.64;-0.64	4.95	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.385573	0.22790	N	0.055620	T	0.45458	0.1343	L	0.59912	1.85	0.22656	N	0.998884	B	0.16603	0.018	B	0.13407	0.009	T	0.46884	-0.9159	10	0.51188	T	0.08	.	9.5126	0.39087	0.2389:0.0:0.7611:0.0	.	152	Q969V1	MCHR2_HUMAN	W	152	ENSP00000403490:R152W;ENSP00000281806:R152W;ENSP00000358214:R152W	ENSP00000281806:R152W	R	-	1	2	MCHR2	100497679	0.214000	0.23563	0.687000	0.30102	0.878000	0.50629	0.214000	0.17541	0.144000	0.18951	0.655000	0.94253	CGG	-	HMMPfam_7tm_1,superfamily_SSF81321		0.473	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MCHR2	protein_coding	OTTHUMT00000041620.2	G	NM_032503		100497679	-1	no_errors	NM_001040179.1	genbank	human	validated	54_36p	missense	SNP	0.979	A	A	100390958	G	A	100390958	3	1	57	1	0	0	0	0	1	0	0	0	9383	1115	39	1	580	1	MCHR2	6	100390958	Missense_Mutation	SNP	G	TCGA-AB-2863-03D-01W-0755-09		100390958	70724109	7	609											
EGFR	1956	genome.wustl.edu	37	7	55273099	55273099	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr7:55273099C>G	ENST00000275493.2	+	28	3599	c.3422C>G	c.(3421-3423)aCt>aGt	p.T1141S	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.T1088S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1141					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TATCTCAACACTGTCCAGCCC	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												dbGAP	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0			7											111	88	96					7																	55273099		2203	4300	6503	55240593	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3422C>G	7.37:g.55273099C>G	ENSP00000275493:p.Thr1141Ser	269	9.06	27					55240593	107	36.99	64	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	HMMPfam_Recep_L_domain,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Furin-like,HMMSmart_SM00261,PatternScan_PROTEIN_KINASE_TYR,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,superfamily_L domain-like	p.T1141S	ENST00000275493.2	37	c.3422	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	1.030	-0.682258	0.03353	.	.	ENSG00000146648	ENST00000395504;ENST00000275493;ENST00000454757	T;T	0.73469	-0.74;-0.75	5.19	4.3	0.51218	.	0.368747	0.33515	N	0.004823	T	0.70237	0.3201	M	0.72118	2.19	0.29304	N	0.868513	P	0.49559	0.925	B	0.42062	0.374	T	0.67373	-0.5687	10	0.07482	T	0.82	.	14.8684	0.70434	0.0:0.8554:0.1446:0.0	.	1141	P00533	EGFR_HUMAN	S	1011;1141;1088	ENSP00000275493:T1141S;ENSP00000395243:T1088S	ENSP00000275493:T1141S	T	+	2	0	EGFR	55240593	0.986000	0.35501	0.753000	0.31225	0.033000	0.12548	4.470000	0.60175	1.302000	0.44855	0.558000	0.71614	ACT	-	NULL		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55240593	1	no_errors	NM_005228.3	genbank	human	reviewed	54_36p	missense	SNP	0.763	G	G	55273099	C	G	55273099	3	3	57	1	0	0	0	0	1	0	0	0	4967	565	20	4	3796	4	EGFR	7	55273099	Missense_Mutation	SNP	C	TCGA-AB-2863-03D-01W-0755-09		55273099	103865564	8	610											
RAB11FIP1	80223	genome.wustl.edu	37	8	37732412	37732412	+	Missense_Mutation	SNP	C	C	T	rs140686896	byFrequency	TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr8:37732412C>T	ENST00000330843.4	-	3	1255	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.A267T|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.A415T|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.A267T|RAB11FIP1_ENST00000523182.1_5'Flank	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	415					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGAGTTTGCGGGGGCCATG	0.557																																						dbGAP											0			8						C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	62	60	61		1243,1243	4.9	0	8	dbSNP_134	61	0,8600		0,0,4300	no	missense,missense	RAB11FIP1	NM_001002814.2,NM_025151.4	58,58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging	415/1284,415/650	37732412	2,13004	2203	4300	6503	37851570	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1243G>A	8.37:g.37732412C>T	ENSP00000331342:p.Ala415Thr	502	6.81	37		34	34.62	18	37851570	372	24.6	123	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_RBD-FIP	p.A415T	ENST00000330843.4	37	c.1243	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749665	0.30955	4.54E-4	0.0	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31769	2.23;2.68;1.5;1.48	4.91	4.91	0.64330	.	0.602245	0.15777	N	0.245104	T	0.25644	0.0624	M	0.70595	2.14	0.09310	N	1	B;P;P;P	0.48640	0.089;0.759;0.907;0.913	B;B;B;B	0.31495	0.004;0.061;0.131;0.121	T	0.31696	-0.9934	10	0.23302	T	0.38	-5.0172	10.3231	0.43777	0.1316:0.6563:0.2121:0.0	.	267;267;415;415	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	T	415;415;267;267	ENSP00000287263:A415T;ENSP00000331342:A415T;ENSP00000430009:A267T;ENSP00000430680:A267T	ENSP00000287263:A415T	A	-	1	0	RAB11FIP1	37851570	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.327000	0.19663	2.264000	0.75181	0.563000	0.77884	GCA	-	NULL		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	C	NM_025151		37851570	-1	no_errors	NM_001002814.1	genbank	human	validated	54_36p	missense	SNP	0.003	T	T	37732412	C	T	37732412	3	4	57	1	0	0	0	0	1	0	0	0	12893	768	27	1	2624	1	RAB11FIP1	8	37732412	Missense_Mutation	SNP	C	TCGA-AB-2863-03D-01W-0755-09		37732412	108631610	9	611											
MTA2	9219	genome.wustl.edu	37	11	62364143	62364143	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr11:62364143T>C	ENST00000278823.2	-	9	1237	c.848A>G	c.(847-849)tAt>tGt	p.Y283C	MTA2_ENST00000527204.1_Missense_Mutation_p.Y110C|MTA2_ENST00000524902.1_Missense_Mutation_p.Y110C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	283	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTCCTTCCCATACTTCTCTAG	0.562																																						dbGAP											0			11											100	99	99					11																	62364143		2202	4299	6501	62120719	SO:0001583	missense	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.848A>G	11.37:g.62364143T>C	ENSP00000278823:p.Tyr283Cys	812	7.88	70		77	45	63	62120719	136	42.5	102	Q68DB1|Q9UQB5	Missense_Mutation	SNP	HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_Myb_DNA-binding,superfamily_SSF57716	p.Y283C	ENST00000278823.2	37	c.848	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091290	0.76756	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.47177	0.85;0.85;0.85	5.69	5.69	0.88448	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.76170	2.325	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.71876	-0.4460	10	0.72032	D	0.01	-11.8152	13.8893	0.63729	0.0:0.0:0.0:1.0	.	283	O94776	MTA2_HUMAN	C	283;110;110	ENSP00000278823:Y283C;ENSP00000431346:Y110C;ENSP00000431797:Y110C	ENSP00000278823:Y283C	Y	-	2	0	MTA2	62120719	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	8.031000	0.88826	2.163000	0.67991	0.459000	0.35465	TAT	-	HMMSmart_SANT,HMMPfam_Myb_DNA-binding		0.562	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	protein_coding	OTTHUMT00000395578.1	T	NM_004739		62120719	-1	no_errors	NM_004739.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	62364143	T	C	62364143	3	2	57	1	0	0	0	0	1	0	0	0	9909	1406	49	3	1198	3	MTA2	11	62364143	Missense_Mutation	SNP	T	TCGA-AB-2863-03D-01W-0755-09		62364143	72642373	10	612											
CCDC67	159989	genome.wustl.edu	37	11	93127747	93127747	+	Silent	SNP	A	A	G			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr11:93127747A>G	ENST00000298050.3	+	10	1264	c.1164A>G	c.(1162-1164)acA>acG	p.T388T	CCDC67_ENST00000525646.1_Silent_p.T130T	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	388					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)				CAACTGTCACAAAGAAAGCTG	0.373																																						dbGAP											0			11											71	62	65					11																	93127747		1842	4087	5929	92767395	SO:0001819	synonymous_variant	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.1164A>G	11.37:g.93127747A>G		121	9.7	13					92767395	91	42.5	68	Q8NEF1|Q96LL7	Silent	SNP	NULL	p.T388	ENST00000298050.3	37	c.1164	CCDS44707.1	11																																																																																			-	NULL		0.373	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC67	protein_coding		A	NM_181645		92767395	1	no_errors	NM_181645.3	genbank	human	validated	54_36p	silent	SNP	1.000	G	G	93127747	A	G	93127747	2	3	57	1	0	0	0	0	0	0	0	1	2839	117	5	3		3	CCDC67	11	93127747	Silent	SNP	A	TCGA-AB-2863-03D-01W-0755-09	30763604	93127747	41878769	11	613											
SMAD9	4093	genome.wustl.edu	37	13	37446969	37446969	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr13:37446969G>A	ENST00000399275.2	-	2	635	c.496C>T	c.(496-498)Cac>Tac	p.H166Y	SMAD9_ENST00000379826.4_Missense_Mutation_p.H166Y|SMAD9_ENST00000350148.5_Missense_Mutation_p.H166Y			O15198	SMAD9_HUMAN	SMAD family member 9	166					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGCTCACTGTGCAGGGAGGCG	0.592																																						dbGAP											0			13											145	124	131					13																	37446969		2203	4300	6503	36344969	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"SMADs"	6774	protein-coding gene	gene with protein product		603295	"MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)"	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.496C>T	13.37:g.37446969G>A	ENSP00000382216:p.His166Tyr	510	0	0					36344969	315	14.56	54	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	HMMPfam_MH2,HMMSmart_SM00524,HMMPfam_MH1,HMMSmart_SM00523,superfamily_SMAD/FHA domain,superfamily_SMAD MH1 domain	p.H166Y	ENST00000399275.2	37	c.496	CCDS45032.1	13	.	.	.	.	.	.	.	.	.	.	G	13.82	2.351028	0.41599	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.94330	-3.4;-3.38;-3.4	5.24	4.38	0.52667	.	0.044308	0.85682	D	0.000000	D	0.88829	0.6543	L	0.49126	1.545	0.51767	D	0.999934	B;B	0.27700	0.007;0.186	B;B	0.29663	0.062;0.105	T	0.82333	-0.0509	10	0.07990	T	0.79	.	10.3054	0.43678	0.0:0.1471:0.7002:0.1527	.	166;166	O15198-2;O15198	.;SMAD9_HUMAN	Y	166	ENSP00000382216:H166Y;ENSP00000239885:H166Y;ENSP00000369154:H166Y	ENSP00000239885:H166Y	H	-	1	0	SMAD9	36344969	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.305000	0.65750	1.313000	0.45069	0.563000	0.77884	CAC	-	NULL		0.592	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	protein_coding	OTTHUMT00000044525.2	G	NM_005905		36344969	-1	no_errors	NM_005905.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	37446969	G	A	37446969	3	1	57	1	0	0	0	0	1	0	0	0	14764	1319	46	2	927	2	SMAD9	13	37446969	Missense_Mutation	SNP	G	TCGA-AB-2863-03D-01W-0755-09		37446969	77722909	12	614											
SLCO3A1	28232	genome.wustl.edu	37	15	92671620	92671620	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr15:92671620C>G	ENST00000318445.6	+	7	1627	c.1413C>G	c.(1411-1413)tgC>tgG	p.C471W	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.C471W	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	471	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	ACTCGCCCTGCAATAATAACT	0.537																																						dbGAP											0			15											207	170	182					15																	92671620		2198	4298	6496	90472624	SO:0001583	missense	0			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"Solute carriers"	10952	protein-coding gene	gene with protein product		612435	"solute carrier family 21 (organic anion transporter), member 11"	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1413C>G	15.37:g.92671620C>G	ENSP00000320634:p.Cys471Trp	626	9.87	69		32	47.54	29	90472624	254	45.51	218	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors	p.C471W	ENST00000318445.6	37	c.1413	CCDS10371.1	15	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145348	0.57044	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	T;T	0.62232	0.04;0.04	5.46	5.46	0.80206	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.88258	0.2921	10	0.87932	D	0	.	19.3038	0.94153	0.0:1.0:0.0:0.0	.	413;471;471	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	W	471;471;190	ENSP00000320634:C471W;ENSP00000387846:C471W	ENSP00000320634:C471W	C	+	3	2	SLCO3A1	90472624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.472000	0.60189	2.569000	0.86673	0.655000	0.94253	TGC	-	HMMPfam_OATP,HMMPfam_Kazal_2,superfamily_MFS general substrate transporter,superfamily_Kazal-type serine protease inhibitors		0.537	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO3A1	protein_coding	OTTHUMT00000313529.1	C	NM_013272		90472624	1	no_errors	NM_013272.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	92671620	C	G	92671620	3	3	57	1	0	0	0	0	1	0	0	0	14728	718	25	4	1439	4	SLCO3A1	15	92671620	Missense_Mutation	SNP	C	TCGA-AB-2863-03D-01W-0755-09		92671620	9859772	13	615											
GPRC5B	51704	genome.wustl.edu	37	16	19883344	19883344	+	Missense_Mutation	SNP	G	G	A	rs149281124	byFrequency	TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr16:19883344G>A	ENST00000300571.2	-	2	1015	c.824C>T	c.(823-825)aCg>aTg	p.T275M	GPRC5B_ENST00000537135.1_Missense_Mutation_p.T301M|GPRC5B_ENST00000569479.1_Missense_Mutation_p.T275M|GPRC5B_ENST00000569847.1_Missense_Mutation_p.T275M|GPRC5B_ENST00000535671.1_Missense_Mutation_p.T275M	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	275					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGCCGCCAGCGTGATGGCCAA	0.612																																						dbGAP											0			16						G	MET/THR	0,4394		0,0,2197	66	72	70		824	5.2	1	16	dbSNP_134	70	3,8597	3.0+/-9.4	0,3,4297	yes	missense	GPRC5B	NM_016235.1	81	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	275/404	19883344	3,12991	2197	4300	6497	19790845	SO:0001583	missense	0			AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"GPCR / Class C : Orphans"	13308	protein-coding gene	gene with protein product		605948	"G protein-coupled receptor, family C, group 1, member B", "G protein-coupled receptor, family C, group 5, member B"			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.824C>T	16.37:g.19883344G>A	ENSP00000300571:p.Thr275Met	220	5.11	12					19790845	92	46.86	82	D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3	p.T275M	ENST00000300571.2	37	c.824	CCDS10581.1	16	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	23.2	4.392247	0.83011	0.0	3.49E-4	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	D;D;D	0.88354	-2.37;-2.37;-2.37	5.18	5.18	0.71444	GPCR, family 3, C-terminal (1);	0.248616	0.40064	N	0.001191	D	0.90079	0.6901	L	0.36672	1.1	0.48040	D	0.999574	D;D	0.71674	0.998;0.996	P;P	0.58577	0.841;0.782	D	0.88680	0.3201	9	.	.	.	.	17.8587	0.88775	0.0:0.0:1.0:0.0	.	301;275	B7Z831;Q9NZH0	.;GPC5B_HUMAN	M	275;275;124;301	ENSP00000300571:T275M;ENSP00000442858:T275M;ENSP00000441775:T301M	.	T	-	2	0	GPRC5B	19790845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.610000	0.98337	2.688000	0.91661	0.655000	0.94253	ACG	-	HMMPfam_7tm_3		0.612	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5B	protein_coding	OTTHUMT00000254285.1	G			19790845	-1	no_errors	NM_016235.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	19883344	G	A	19883344	3	1	57	1	0	0	0	0	1	0	0	0	6725	1145	40	1	399	1	GPRC5B	16	19883344	Missense_Mutation	SNP	G	TCGA-AB-2863-03D-01W-0755-09		19883344	70471409	14	616											
RNF213	57674	genome.wustl.edu	37	17	78320603	78320603	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr17:78320603G>A	ENST00000582970.1	+	29	8611	c.8468G>A	c.(8467-8469)cGg>cAg	p.R2823Q	RNF213_ENST00000508628.2_Missense_Mutation_p.R2872Q|RNF213_ENST00000336301.6_Missense_Mutation_p.R896Q	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2823					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R896Q(1)|p.R2872Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCACCTTCCGGCAGTGCGCC	0.617																																						dbGAP											2	Substitution - Missense(2)	prostate(2)	17											49	44	46					17																	78320603		2203	4300	6503	75935198	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.8468G>A	17.37:g.78320603G>A	ENSP00000464087:p.Arg2823Gln	77	11.36	10		25	59.68	37	75935198	45	44.58	37	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box	p.R896Q	ENST00000582970.1	37	c.2687	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	9.239	1.037919	0.19669	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.29142	1.58	5.82	-5.84	0.02318	ATPase, AAA+ type, core (1);	0.299370	0.31392	N	0.007734	T	0.23133	0.0559	L	0.46157	1.445	0.20403	N	0.999903	B	0.22541	0.071	B	0.17433	0.018	T	0.12372	-1.0550	10	0.44086	T	0.13	.	15.8018	0.78458	0.3118:0.0:0.6882:0.0	.	896	Q63HN8	RN213_HUMAN	Q	2823;2872;896	ENSP00000338218:R896Q	ENSP00000338218:R896Q	R	+	2	0	RNF213	75935198	0.990000	0.36364	0.093000	0.20910	0.183000	0.23260	0.414000	0.21164	-0.874000	0.04027	-0.251000	0.11542	CGG	-	HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.617	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914		75935198	1	no_errors	NM_020914.3	genbank	human	validated	54_36p	missense	SNP	0.996	A	A	78320603	G	A	78320603	3	1	57	1	0	0	0	0	1	0	0	0	13477	1116	39	1	8897	1	RNF213	17	78320603	Missense_Mutation	SNP	G	TCGA-AB-2863-03D-01W-0755-09		78320603	2874607	15	617											
FKBP8	23770	genome.wustl.edu	37	19	18652593	18652593	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr19:18652593G>A	ENST00000596558.2	-	2	297	c.188C>T	c.(187-189)gCg>gTg	p.A63V	FKBP8_ENST00000453489.2_Missense_Mutation_p.A92V|FKBP8_ENST00000608443.1_Missense_Mutation_p.A63V|FKBP8_ENST00000222308.4_Missense_Mutation_p.A63V|FKBP8_ENST00000597960.3_Missense_Mutation_p.A63V|FKBP8_ENST00000610101.1_Missense_Mutation_p.A63V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	63	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						AGCCTCCTCCGCCGGGGGTTG	0.662																																						dbGAP											0			19											26	26	26					19																	18652593		2203	4300	6503	18513593	SO:0001583	missense	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.188C>T	19.37:g.18652593G>A	ENSP00000472302:p.Ala63Val	96	8.49	9		43	54.17	52	18513593	37	39.34	24	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	HMMPfam_FKBP_C,HMMPfam_TPR_1,superfamily_SSF48452,superfamily_SSF54534	p.A63V	ENST00000596558.2	37	c.188		19	.	.	.	.	.	.	.	.	.	.	g	0.042	-1.279956	0.01398	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.37411	1.2;1.94;1.44	4.07	-7.47	0.01365	.	1.682170	0.03831	N	0.269085	T	0.14098	0.0341	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23119	-1.0197	10	0.27785	T	0.31	1.3446	9.9114	0.41408	0.2269:0.0:0.6517:0.1214	.	92;63;63	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	V	63;63;92	ENSP00000222308:A63V;ENSP00000441267:A63V;ENSP00000388891:A92V	ENSP00000222308:A63V	A	-	2	0	FKBP8	18513593	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.060000	0.11712	-1.763000	0.01307	-1.924000	0.00514	GCG	-	NULL		0.662	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	protein_coding	OTTHUMT00000466374.3	G	NM_012181		18513593	-1	no_errors	NM_012181.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	A	A	18652593	G	A	18652593	3	1	57	1	0	0	0	0	1	0	0	0	5914	1087	38	1	1085	1	FKBP8	19	18652593	Missense_Mutation	SNP	G	TCGA-AB-2863-03D-01W-0755-09		18652593	40476390	16	618											
CEBPA	1050	genome.wustl.edu	37	19	33792368	33792370	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	GTC	GTC	GTC	-	GTC	GTC	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr19:33792368_33792370delGTC	ENST00000498907.2	-	1	1100_1102	c.951_953delGAC	c.(949-954)ctgacc>ctc	p.T318del	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	318	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L317_T318ins13(3)|p.H200_K352>Q(1)|p.?(1)|p.L317_T318insS(1)|p.S319fs*11(1)|p.L317_T318insV(1)|p.L317_T318insL(1)|p.L317_T318insKVLEL(1)|p.L317_S319>L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ATTGTCACTGGTCAGCTCCAGCA	0.655			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	11	Insertion - In frame(7)|Complex - deletion inframe(2)|Unknown(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(11)	19																																								38484210	SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.951_953delGAC	19.37:g.33792368_33792370delGTC	ENSP00000427514:p.Thr318del	0	3.45	1		0	45.71	32	38484208	0	25.93	7	A7LNP2|P78319|Q05CA4	In_Frame_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.T318in_frame_del	ENST00000498907.2	37	c.953_951	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.655	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	GTC	NM_004364		38484210	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.992:0.993:0.994	-	-	33792370	GTC	-	33792368	7	5	57	1	0	1	0	1	0	0	0	0	3199	1261	44	0	127	0	CEBPA	19	33792368	In_Frame_Del	DEL	GTC	TCGA-AB-2863-03D-01W-0755-09	15139775	33792368	25336615	17	619											
SLPI	6590	genome.wustl.edu	37	20	43881786	43881786	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2863-03D-01W-0755-09	TCGA-AB-2863-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d4ba0ac2-9d98-430b-bb0d-e1bada2d5486	0f0f4ffb-a917-42d4-b1dd-15841726f923	g.chr20:43881786C>T	ENST00000338380.2	-	3	271	c.251G>A	c.(250-252)aGg>aAg	p.R84K		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	84	Elastase inhibitory domain.|WAP 2. {ECO:0000255|PROSITE- ProRule:PRU00722}.				negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)	extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				CCCAGGCTTCCTCCTTGCTGG	0.532																																					GBM(64;162 1089 31780 33427 34538)	dbGAP											0			20											91	82	85					20																	43881786		2203	4300	6503	43315200	SO:0001583	missense	0			X04502	CCDS13347.1	20q13.12	2013-01-21	2005-08-17		ENSG00000124107	ENSG00000124107		"WAP four-disulfide core domain containing"	11092	protein-coding gene	gene with protein product	"antileukoproteinase"	107285	"secretory leukocyte protease inhibitor (antileukoproteinase)"			3640338, 12206714	Standard	NM_003064		Approved	HUSI-I, ALK1, ALP, BLPI, HUSI, WAP4, WFDC4	uc002xnm.1	P03973	OTTHUMG00000033075	ENST00000338380.2:c.251G>A	20.37:g.43881786C>T	ENSP00000342082:p.Arg84Lys	229	8.76	22					43315200	128	46.67	112	B2R5H8|P07757	Missense_Mutation	SNP	HMMPfam_WAP,HMMSmart_SM00217,superfamily_Elafin-like,PatternScan_4_DISULFIDE_CORE	p.R84K	ENST00000338380.2	37	c.251	CCDS13347.1	20	.	.	.	.	.	.	.	.	.	.	C	2.509	-0.313474	0.05422	.	.	ENSG00000124107	ENST00000338380	T	0.21361	2.01	5.04	-9.09	0.00717	Whey acidic protein, 4-disulphide core (3);	2.639780	0.01767	N	0.030942	T	0.05731	0.0150	N	0.02721	-0.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33420	-0.9869	10	0.02654	T	1	.	5.5693	0.17188	0.5521:0.2541:0.0:0.1938	.	84	P03973	SLPI_HUMAN	K	84	ENSP00000342082:R84K	ENSP00000342082:R84K	R	-	2	0	SLPI	43315200	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.339000	0.02652	-1.159000	0.02807	-0.302000	0.09304	AGG	-	superfamily_Elafin-like		0.532	SLPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLPI	protein_coding	OTTHUMT00000080494.3	C			43315200	-1	no_errors	NM_003064.2	genbank	human	reviewed	54_36p	missense	SNP	0.002	T	T	43881786	C	T	43881786	3	4	57	1	0	0	0	0	1	0	0	0	14753	681	24	2	155	2	SLPI	20	43881786	Missense_Mutation	SNP	C	TCGA-AB-2863-03D-01W-0755-09		43881786	19143734	18	620											
CASZ1	54897	genome.wustl.edu	37	1	10715798	10715798	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr1:10715798C>T	ENST00000377022.3	-	9	1890	c.1573G>A	c.(1573-1575)Ggc>Agc	p.G525S	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.G525S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	525					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CGCATGAAGCCGTGCTGCAGG	0.602																																						dbGAP											0			1											241	175	198					1																	10715798		2203	4300	6503	10638385	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"Zinc fingers, C2H2-type"	26002	protein-coding gene	gene with protein product	"zinc finger protein 693", "survival related gene"	609895	"castor homolog 1, zinc finger (Drosophila)"			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1573G>A	1.37:g.10715798C>T	ENSP00000366221:p.Gly525Ser	30	0	0					10638385	67	40.18	45	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.G525S	ENST00000377022.3	37	c.1573	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.557285	0.96514	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.77370	0.4120	M	0.64404	1.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.80327	-0.1429	9	0.72032	D	0.01	-30.2106	17.9435	0.89032	0.0:1.0:0.0:0.0	.	549;525;525	B7Z1S3;Q86V15-2;Q86V15	.;.;CASZ1_HUMAN	S	525	.	ENSP00000339445:G525S	G	-	1	0	CASZ1	10638385	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	7.324000	0.79115	2.409000	0.81822	0.561000	0.74099	GGC	-	NULL		0.602	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	protein_coding	OTTHUMT00000005673.2	C	NM_017766		10638385	-1	no_errors	NM_001079843.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	10715798	C	T	10715798	3	4	58	1	0	0	0	0	1	0	0	0	2685	652	23	1	3762	1	CASZ1	1	10715798	Missense_Mutation	SNP	C	TCGA-AB-2864-03D-01W-0755-09		10715798	238534823	1	621											
SLC6A9	6536	genome.wustl.edu	37	1	44468623	44468623	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr1:44468623T>A	ENST00000360584.2	-	6	1035	c.844A>T	c.(844-846)Aac>Tac	p.N282Y	SLC6A9_ENST00000372306.3_Missense_Mutation_p.N209Y|SLC6A9_ENST00000372310.3_Missense_Mutation_p.N209Y|SLC6A9_ENST00000537678.1_Missense_Mutation_p.N144Y|SLC6A9_ENST00000357730.2_Missense_Mutation_p.N228Y|SLC6A9_ENST00000372307.3_Missense_Mutation_p.N144Y|SLC6A9_ENST00000475075.2_Missense_Mutation_p.N98Y	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	282					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCCCAAAGTTCCCAATGTCA	0.612																																						dbGAP											0			1											126	133	130					1																	44468623		2203	4300	6503	44241210	SO:0001583	missense	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"Solute carriers"	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.844A>T	1.37:g.44468623T>A	ENSP00000353791:p.Asn282Tyr	67	0	0					44241210	68	36.61	41	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.N282Y	ENST00000360584.2	37	c.844	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992085	0.35131	.	.	ENSG00000196517	ENST00000372307;ENST00000372306;ENST00000372310;ENST00000475075;ENST00000360584;ENST00000357730;ENST00000537678	T;T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.99	2.57	0.30868	.	0.229790	0.50627	D	0.000106	T	0.74145	0.3678	L	0.38649	1.16	0.58432	D	0.999997	D;B;B;B;B;D	0.71674	0.996;0.166;0.129;0.036;0.065;0.998	D;B;B;B;B;D	0.71414	0.936;0.209;0.091;0.026;0.026;0.973	T	0.68262	-0.5455	10	0.30854	T	0.27	.	5.5819	0.17254	0.0:0.1486:0.1452:0.7062	.	213;209;144;209;228;282	B7Z3W8;B7Z8W5;B7Z3A9;P48067-2;P48067-3;P48067	.;.;.;.;.;SC6A9_HUMAN	Y	144;209;209;98;282;228;144	ENSP00000361381:N144Y;ENSP00000361380:N209Y;ENSP00000361384:N209Y;ENSP00000434460:N98Y;ENSP00000353791:N282Y;ENSP00000350362:N228Y;ENSP00000442523:N144Y	ENSP00000350362:N228Y	N	-	1	0	SLC6A9	44241210	0.935000	0.31712	0.986000	0.45419	0.785000	0.44390	1.062000	0.30555	0.346000	0.23899	0.460000	0.39030	AAC	-	HMMPfam_SNF		0.612	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	protein_coding	OTTHUMT00000022825.2	T	NM_201649		44241210	-1	no_errors	NM_201649.1	genbank	human	validated	54_36p	missense	SNP	0.955	A	A	44468623	T	A	44468623	3	1	58	1	0	0	0	0	1	0	0	0	14691	1783	62	5	1312	5	SLC6A9	1	44468623	Missense_Mutation	SNP	T	TCGA-AB-2864-03D-01W-0755-09	33752825	44468623	204781998	2	622											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	178	2.72	5					25310746	63	50	64	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	58	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2864-03D-01W-0755-09		25457242	217742131	3	623											
ATP13A5	344905	genome.wustl.edu	37	3	193028481	193028481	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr3:193028481G>C	ENST00000342358.4	-	21	2588	c.2471C>G	c.(2470-2472)gCa>gGa	p.A824G	ATP13A5_ENST00000495496.1_5'UTR|ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	824						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGACATTCTTGCAAAAACTGT	0.343																																						dbGAP											0			3											99	91	94					3																	193028481		2203	4300	6503	194511175	SO:0001583	missense	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"ATPases / P-type"	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.2471C>G	3.37:g.193028481G>C	ENSP00000341942:p.Ala824Gly	157	0.62	1					194511175	123	45.13	102	Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_SSF56784,superfamily_SSF81653,superfamily_SSF81660,superfamily_SSF81665	p.A824G	ENST00000342358.4	37	c.2471	CCDS33914.1	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779860	0.90195	.	.	ENSG00000187527	ENST00000342358	T	0.64438	-0.1	5.56	5.56	0.83823	HAD-like domain (2);	0.315426	0.30302	N	0.009931	D	0.84866	0.5567	H	0.94385	3.53	0.54753	D	0.999989	D	0.89917	1.0	D	0.79784	0.993	D	0.87897	0.2688	10	0.56958	D	0.05	-7.8016	17.3696	0.87372	0.0:0.0:1.0:0.0	.	824	Q4VNC0	AT135_HUMAN	G	824	ENSP00000341942:A824G	ENSP00000341942:A824G	A	-	2	0	ATP13A5	194511175	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.182000	0.71995	2.778000	0.95560	0.655000	0.94253	GCA	-	superfamily_SSF56784,superfamily_SSF81665		0.343	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	protein_coding	OTTHUMT00000343012.1	G	NM_198505		194511175	-1	no_errors	NM_198505.2	genbank	human	provisional	54_36p	missense	SNP	1.000	C	C	193028481	G	C	193028481	3	2	58	1	0	0	0	0	1	0	0	0	1127	1319	46	4	1223	4	ATP13A5	3	193028481	Missense_Mutation	SNP	G	TCGA-AB-2864-03D-01W-0755-09		193028481	4993949	4	624											
PCDHA13	56136	genome.wustl.edu	37	5	140264046	140264046	+	Silent	SNP	G	G	A			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr5:140264046G>A	ENST00000289272.2	+	1	2193	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.A731A|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	731					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGCGCGTGCGCGCCGG	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)	dbGAP											0			5											61	66	64					5																	140264046		2203	4297	6500	140244230	SO:0001819	synonymous_variant	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"Cadherins / Protocadherins : Clustered"	8667	other	complex locus constituent	"KIAA0345-like 1", "ortholog of mouse CNR5"	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2193G>A	5.37:g.140264046G>A		8	0	0					140244230	31	44.07	26	O75277	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.A731	ENST00000289272.2	37	c.2193	CCDS4240.1	5																																																																																			-	NULL		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	protein_coding	OTTHUMT00000335000.1	G	NM_018904		140244230	1	no_errors	NM_018904.2	genbank	human	reviewed	54_36p	silent	SNP	0.239	A	A	140264046	G	A	140264046	2	1	58	1	0	0	0	0	0	0	0	1	11523	1132	40	1		1	PCDHA13	5	140264046	Silent	SNP	G	TCGA-AB-2864-03D-01W-0755-09		140264046	40651214	5	625											
PPP2R2B	5521	genome.wustl.edu	37	5	145969731	145969731	+	Missense_Mutation	SNP	G	G	A	rs370195005		TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr5:145969731G>A	ENST00000394413.3	-	9	1681	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R371C|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R429C|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R371C|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R374C|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R437C|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R377C|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R360C|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R371C|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R360C			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	371					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCACATCACGCTTGGTGTTT	0.512																																						dbGAP											0			5						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	83	77	79		1111,1111,1111,1111,1120,1051,1078	5.3	1	5		79	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense	PPP2R2B	NM_001127381.1,NM_004576.2,NM_181674.2,NM_181675.2,NM_181676.2,NM_181677.2,NM_181678.2	180,180,180,180,180,180,180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign,benign	371/444,371/444,371/444,371/444,374/447,351/424,360/433	145969731	1,13005	2203	4300	6503	145949924	SO:0001583	missense	0			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits", "WD repeat domain containing"	9305	protein-coding gene	gene with protein product	"PP2A subunit B isoform beta"	604325	"spinocerebellar ataxia 12", "protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform", "protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.1111C>T	5.37:g.145969731G>A	ENSP00000377935:p.Arg371Cys	223	0	0					145949924	171	41.14	123	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_PR55_1,PatternScan_PR55_2,HMMPfam_PP2A_B_N,HMMPfam_PP2A_B_subs_rcg,PatternScan_WD_REPEATS_1	p.R374C	ENST00000394413.3	37	c.1120	CCDS4284.1	5	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413683	0.62511	2.27E-4	0.0	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	T;T;T;T;T;T;T;T;T;T	0.74632	-0.86;-0.86;1.44;-0.86;-0.86;-0.86;-0.86;-0.86;-0.86;1.44	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.115539	0.64402	D	0.000011	T	0.74084	0.3670	M	0.71581	2.175	0.80722	D	1	B;B;B;B;B;B	0.28128	0.146;0.027;0.027;0.091;0.201;0.174	B;B;B;B;B;B	0.21151	0.019;0.021;0.021;0.019;0.021;0.033	T	0.71695	-0.4515	10	0.39692	T	0.17	-2.5928	19.1301	0.93402	0.0:0.0:1.0:0.0	.	429;377;360;437;374;371	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	C	371;360;437;371;371;371;360;374;377;429	ENSP00000377935:R371C;ENSP00000431320:R360C;ENSP00000377936:R437C;ENSP00000377933:R371C;ENSP00000349283:R371C;ENSP00000398779:R371C;ENSP00000377932:R360C;ENSP00000336591:R374C;ENSP00000421396:R377C;ENSP00000377931:R429C	ENSP00000336591:R374C	R	-	1	0	AC011357.1	145949924	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.263000	0.95617	2.767000	0.95098	0.655000	0.94253	CGT	-	superfamily_WD40 repeat-like		0.512	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	protein_coding	OTTHUMT00000251893.2	G	NM_181678		145949924	-1	no_errors	NM_181676.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	145969731	G	A	145969731	3	1	58	1	0	0	0	0	1	0	0	0	12385	1087	38	1	224	1	PPP2R2B	5	145969731	Missense_Mutation	SNP	G	TCGA-AB-2864-03D-01W-0755-09	5705685	145969731	34945529	6	626											
C6orf118	168090	genome.wustl.edu	37	6	165715653	165715653	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr6:165715653C>T	ENST00000230301.8	-	2	178	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	C6orf118_ENST00000543069.1_5'UTR	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	53										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GACGTCCTCCCGGTGGTCTTT	0.557																																						dbGAP											0			6											94	103	100					6																	165715653		2203	4300	6503	165635643	SO:0001583	missense	0				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.158G>A	6.37:g.165715653C>T	ENSP00000230301:p.Arg53Gln	49	0	0					165635643	180	25.61	63	Q8TC11	Missense_Mutation	SNP	NULL	p.R53Q	ENST00000230301.8	37	c.158	CCDS5288.1	6	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934645	0.34189	.	.	ENSG00000112539	ENST00000230301	T	0.14266	2.52	5.31	-1.81	0.07882	.	0.763663	0.12006	N	0.508396	T	0.03178	0.0093	L	0.45581	1.43	0.09310	N	1	B	0.27971	0.196	B	0.18263	0.021	T	0.36625	-0.9740	10	0.49607	T	0.09	.	5.6239	0.17473	0.1385:0.3159:0.0:0.5456	.	53	Q5T5N4	CF118_HUMAN	Q	53	ENSP00000230301:R53Q	ENSP00000230301:R53Q	R	-	2	0	C6orf118	165635643	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.841000	0.04359	-0.482000	0.06782	-0.150000	0.13652	CGG	-	NULL		0.557	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf118	protein_coding	OTTHUMT00000043026.1	C	NM_144980		165635643	-1	no_errors	NM_144980.3	genbank	human	validated	54_36p	missense	SNP	0.017	T	T	165715653	C	T	165715653	3	4	58	1	0	0	0	0	1	0	0	0	2323	652	23	1	1283	1	C6orf118	6	165715653	Missense_Mutation	SNP	C	TCGA-AB-2864-03D-01W-0755-09		165715653	5399414	7	627											
ASB4	51666	genome.wustl.edu	37	7	95115472	95115472	+	Splice_Site	SNP	T	T	G			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr7:95115472T>G	ENST00000325885.5	+	1	258		c.e1+2		ASB4_ENST00000428113.1_Splice_Site|ASB4_ENST00000257621.4_Intron	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4						intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATAAACAAGGTAAAAACATAT	0.308																																						dbGAP											0			7											61	64	63					7																	95115472		2203	4300	6503	94953408	SO:0001630	splice_region_variant	0			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"Ankyrin repeat domain containing"	16009	protein-coding gene	gene with protein product		605761	"ankyrin repeat and SOCS box-containing 4"				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.187+2T>G	7.37:g.95115472T>G		65	0	0					94953408	109	39.23	71	A4D1H6|O14586|Q14D68|Q8TBT2	Splice_Site	SNP	-	e1+2	ENST00000325885.5	37	c.187+2	CCDS5641.1	7	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511087	0.64522	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	.	.	.	5.02	5.02	0.67125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2668	0.73669	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASB4	94953408	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.860000	0.75473	2.266000	0.75297	0.529000	0.55759	.	-	-		0.308	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB4	protein_coding	OTTHUMT00000333225.2	T	NM_016116	Intron	94953408	1	no_errors	NM_016116.1	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G	G	95115472	T	G	95115472	5	3	58	1	0	0	0	0	0	0	1	0	1025	1652	57	5	191	5	ASB4	7	95115472	Splice_Site	SNP	T	TCGA-AB-2864-03D-01W-0755-09		95115472	64023191	8	628											
PZP	5858	genome.wustl.edu	37	12	9311061	9311061	+	Silent	SNP	A	A	G			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr12:9311061A>G	ENST00000261336.2	-	26	3277	c.3249T>C	c.(3247-3249)aaT>aaC	p.N1083N	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Silent_p.N869N	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1083					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TGAAACAGCCATTGTCCTTCT	0.483																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0			12											202	187	192					12																	9311061		2203	4300	6503	9202328	SO:0001819	synonymous_variant	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3249T>C	12.37:g.9311061A>G		253	3.03	8					9202328	242	13.83	39	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,PatternScan_TONB_DEPENDENT_REC_1,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN	p.N1083	ENST00000261336.2	37	c.3249	CCDS8600.1	12																																																																																			-	superfamily_Terpenoid cyclases/Protein prenyltransferases,HMMPfam_A2M_comp		0.483	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	protein_coding	OTTHUMT00000337624.1	A	NM_002864		9202328	-1	no_errors	NM_002864.2	genbank	human	validated	54_36p	silent	SNP	0.998	G	G	9311061	A	G	9311061	2	3	58	1	0	0	0	0	0	0	0	1	12869	214	8	3		3	PZP	12	9311061	Silent	SNP	A	TCGA-AB-2864-03D-01W-0755-09		9311061	124540834	9	629											
KRAS	3845	genome.wustl.edu	37	12	25380282	25380282	+	Missense_Mutation	SNP	G	G	T	rs104886029		TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr12:25380282G>T	ENST00000256078.4	-	3	239	c.176C>A	c.(175-177)gCa>gAa	p.A59E	KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.A59E|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	59			A -> T (in bladder cancer and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A59E(4)|p.A59G(4)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTCTTGACCTGCTGTGTCGAG	0.418		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	8	Substitution - Missense(8)	large_intestine(4)|kidney(2)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	12											107	95	99					12																	25380282		2203	4300	6503	25271549	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.176C>A	12.37:g.25380282G>T	ENSP00000256078:p.Ala59Glu	83	1.16	1					25271549	74	40.62	52	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A59E	ENST00000256078.4	37	c.176	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.269436	0.95429	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88975	-2.45;-2.45	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.046090	0.85682	D	0.000000	D	0.96870	0.8978	H	0.97465	4.01	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.975;0.999	D	0.97659	1.0159	10	0.87932	D	0	.	19.3504	0.94381	0.0:0.0:1.0:0.0	.	59;59	P01116-2;P01116	.;RASK_HUMAN	E	59	ENSP00000308495:A59E;ENSP00000256078:A59E	ENSP00000256078:A59E	A	-	2	0	KRAS	25271549	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.885000	0.99019	0.655000	0.94253	GCA	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.418	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	G	NM_033360		25271549	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25380282	G	T	25380282	3	4	58	1	0	0	0	0	1	0	0	0	8438	1319	46	4	526	4	KRAS	12	25380282	Missense_Mutation	SNP	G	TCGA-AB-2864-03D-01W-0755-09	16069221	25380282	108471613	10	630											
ANKRD33	341405	genome.wustl.edu	37	12	52284913	52284913	+	Intron	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr12:52284913C>T	ENST00000340970.4	+	6	1035				ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.P395S|ANKRD33_ENST00000538991.1_Intron			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TAGCACCAGCCCCAGGCCCCA	0.617																																						dbGAP											0			12											72	59	64					12																	52284913		2203	4300	6503	50571180	SO:0001627	intron_variant	0				CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"Ankyrin repeat domain containing"	13788	protein-coding gene	gene with protein product			"chromosome 12 open reading frame 7"	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.665-57C>T	12.37:g.52284913C>T		59	1.64	1					50571180	67	48.46	63	Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.P395S	ENST00000340970.4	37	c.1183	CCDS44892.1	12	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336330	0.24253	.	.	ENSG00000167612	ENST00000301190	T	0.25085	1.82	3.66	0.435	0.16544	.	0.479499	0.23206	N	0.050726	T	0.13114	0.0318	.	.	.	0.21652	N	0.999606	P	0.36392	0.551	B	0.28784	0.094	T	0.14924	-1.0455	9	0.62326	D	0.03	-11.0869	4.011	0.09623	0.2367:0.5474:0.0:0.2159	.	395	Q7Z3H0-2	.	S	395	ENSP00000301190:P395S	ENSP00000301190:P395S	P	+	1	0	ANKRD33	50571180	0.003000	0.15002	0.015000	0.15790	0.994000	0.84299	0.428000	0.21395	0.221000	0.20879	0.561000	0.74099	CCC	-	NULL		0.617	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD33	protein_coding	OTTHUMT00000404515.1	C	NM_182608		50571180	1	no_errors	NM_182608.1	genbank	human	validated	54_36p	missense	SNP	0.144	T	T	52284913	C	T	52284913	1	4	58	0	1	0	0	0	0	0	0	0	661	623	22	2		2	ANKRD33	12	52284913	Intron	SNP	C	TCGA-AB-2864-03D-01W-0755-09	26904631	52284913	81566982	11	631											
RPL6	6128	genome.wustl.edu	37	12	112846412	112846412	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr12:112846412C>T	ENST00000424576.2	-	2	234	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	RPL6_ENST00000202773.9_Missense_Mutation_p.E17K	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	17					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TTCTTGGCTTCGGGTTTCTTC	0.438																																						dbGAP											0			12											23	28	26					12																	112846412		2186	4240	6426	111330795	SO:0001583	missense	0			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"L ribosomal proteins"	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.49G>A	12.37:g.112846412C>T	ENSP00000403172:p.Glu17Lys	74	1.32	1					111330795	35	32.08	17	Q2M3Q3|Q8WW97	Missense_Mutation	SNP	HMMPfam_Ribosomal_L6e,PatternScan_RIBOSOMAL_L6E,HMMPfam_Ribosomal_L6e_N	p.E17K	ENST00000424576.2	37	c.49	CCDS9162.1	12	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522433	0.13066	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549847;ENST00000553213;ENST00000551291;ENST00000548343;ENST00000549006	T;T	0.30182	1.54;1.54	4.24	3.31	0.37934	.	1.648640	0.03430	N	0.207613	T	0.24890	0.0604	N	0.16656	0.425	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.24368	-1.0162	10	0.45353	T	0.12	.	11.5855	0.50916	0.0:0.8196:0.1804:0.0	.	17;17	B2R4K7;Q02878	.;RL6_HUMAN	K	17	ENSP00000202773:E17K;ENSP00000403172:E17K	ENSP00000202773:E17K	E	-	1	0	RPL6	111330795	0.001000	0.12720	0.132000	0.22025	0.041000	0.13682	0.394000	0.20834	1.095000	0.41419	0.650000	0.86243	GAA	-	NULL		0.438	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	protein_coding	OTTHUMT00000405422.1	C			111330795	-1	no_errors	NM_000970.3	genbank	human	reviewed	54_36p	missense	SNP	0.240	T	T	112846412	C	T	112846412	3	4	58	1	0	0	0	0	1	0	0	0	13598	893	31	1	841	1	RPL6	12	112846412	Missense_Mutation	SNP	C	TCGA-AB-2864-03D-01W-0755-09	60561499	112846412	21005483	12	632											
IDH2	3418	genome.wustl.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					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.R172K(116)|p.R172M(21)|p.R172N(1)		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)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	15											85	81	82					15																	90631838		2200	4298	6498	88432842	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.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys	65	0	0					88432842	75	38.02	46	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R172K	ENST00000330062.3	37	c.515	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432842	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	90631838	C	T	90631838	3	4	58	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-AB-2864-03D-01W-0755-09		90631838	11899554	13	633											
SMURF2	64750	genome.wustl.edu	37	17	62589578	62589578	+	Missense_Mutation	SNP	T	T	C	rs80215473	byFrequency	TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr17:62589578T>C	ENST00000262435.9	-	4	501	c.314A>G	c.(313-315)aAc>aGc	p.N105S	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	105					BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTGAGGCGGTTGATGGCATT	0.373													T|||	59	0.0117812	0.0061	0.0086	5008	,	,		13329	0		0.0288	False		,,,				2504	0.0164					dbGAP											0			17						T	SER/ASN	33,4373	38.4+/-70.7	0,33,2170	123	109	114		314	5.7	1	17	dbSNP_131	114	223,8377	93.3+/-155.3	2,219,4079	yes	missense	SMURF2	NM_022739.3	46	2,252,6249	CC,CT,TT		2.593,0.749,1.9683	benign	105/749	62589578	256,12750	2203	4300	6503	60020040	SO:0001583	missense	0			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.314A>G	17.37:g.62589578T>C	ENSP00000262435:p.Asn105Ser	352	3.55	13					60020040	65	41.96	47	Q52LL1|Q9H260	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB	p.N105S	ENST00000262435.9	37	c.314	CCDS32707.1	17	28	0.01282051282051282	3	0.006097560975609756	4	0.011049723756906077	0	0.0	21	0.027704485488126648	T	13.34	2.207334	0.39003	0.00749	0.02593	ENSG00000108854	ENST00000262435	T	0.66280	-0.2	5.73	5.73	0.89815	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.081322	0.85682	D	0.000000	T	0.14485	0.0350	N	0.01482	-0.84	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	10	0.17832	T	0.49	.	16.0028	0.80308	0.0:0.0:0.0:1.0	.	105	Q9HAU4	SMUF2_HUMAN	S	105	ENSP00000262435:N105S	ENSP00000262435:N105S	N	-	2	0	SMURF2	60020040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.966000	0.63715	2.180000	0.69256	0.533000	0.62120	AAC	-	HMMSmart_C2,superfamily_C2_CaLB		0.373	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	protein_coding	OTTHUMT00000445227.1	T	NM_022739		60020040	-1	no_errors	NM_022739.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	62589578	T	C	62589578	3	2	58	1	0	0	0	0	1	0	0	0	14820	1725	60	3	1996	3	SMURF2	17	62589578	Missense_Mutation	SNP	T	TCGA-AB-2864-03D-01W-0755-09		62589578	18605632	14	634											
CENPB	1059	genome.wustl.edu	37	20	3766879	3766879	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr20:3766879C>T	ENST00000379751.4	-	1	458	c.252G>A	c.(250-252)tgG>tgA	p.W84*	CDC25B_ENST00000344256.6_5'Flank|CDC25B_ENST00000379598.5_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	84	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.				regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						TCTGCTGGAACCAGGCGATGA	0.652																																						dbGAP											0			20											63	64	64					20																	3766879		2203	4300	6503	3714879	SO:0001587	stop_gained	0			X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"centromere protein B (80kD)"			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.252G>A	20.37:g.3766879C>T	ENSP00000369075:p.Trp84*	11	0	0					3714879	40	35.94	23	Q96EI4	Nonsense_Mutation	SNP	HMMPfam_DDE,HMMSmart_CENPB,HMMPfam_CENP-B_N,superfamily_Homeodomain_like,HMMPfam_Cenp-B_dimeris,HMMPfam_CenpB-DNA-bind,superfamily_SSF101160	p.W84*	ENST00000379751.4	37	c.252	CCDS13064.1	20	.	.	.	.	.	.	.	.	.	.	c	36	5.743059	0.96873	.	.	ENSG00000125817	ENST00000379751	.	.	.	3.28	3.28	0.37604	.	0.000000	0.32836	U	0.005589	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1166	0.53868	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000369075:W84X	W	-	3	0	CENPB	3714879	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	1.804000	0.38873	1.403000	0.46800	0.177000	0.17058	TGG	-	HMMSmart_CENPB,superfamily_Homeodomain_like,HMMPfam_CenpB-DNA-bind		0.652	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPB	protein_coding	OTTHUMT00000077772.2	C	NM_001810		3714879	-1	no_errors	NM_001810.5	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	3766879	C	T	3766879	4	4	58	1	0	0	0	0	0	1	0	0	3227	508	18	2	1551	2	CENPB	20	3766879	Nonsense_Mutation	SNP	C	TCGA-AB-2864-03D-01W-0755-09		3766879	59258641	15	635											
ASXL1	171023	genome.wustl.edu	37	20	31023271	31023272	+	Frame_Shift_Ins	INS	-	-	ACCA	rs549809573		TCGA-AB-2864-03D-01W-0755-09	TCGA-AB-2864-11D-01W-0755-09	-	-	-	ACCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	07f07406-597d-40b7-b218-ef40aad6f0bc	d1360466-cb4c-4fea-9ac9-f029dc199e94	g.chr20:31023271_31023272insACCA	ENST00000375687.4	+	13	3180_3181	c.2756_2757insACCA	c.(2755-2760)ataccafs	p.-920fs	ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.-915fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1						bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.P920fs*4(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAGAACACATACCATCTGTTG	0.51			"F, N, Mis"		"MDS, CMML"																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	20																																								30486933	SO:0001589	frameshift_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2757_2760dupACCA	20.37:g.31023272_31023275dupACCA	ENSP00000364839:p.Pro920fs								30486932				B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Frame_Shift_Ins	INS	NULL	p.S921fs	ENST00000375687.4	37	c.2756_2757	CCDS13201.1	20																																																																																			-	NULL		0.51	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	-	NM_015338		30486933	1	no_errors	NM_015338.4	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.000:0.000	ACCA	ACCA	31023272	-	ACCA	31023271	7	5	58	1	0	1	1	0	0	0	0	0	1066	1406	49	0	2812	0	ASXL1	20	31023271	Frame_Shift_Ins	INS	-	TCGA-AB-2864-03D-01W-0755-09	27256392	31023271	32002249	16	636											
PRAMEF2	65122	genome.wustl.edu	37	1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T	rs374389020	byFrequency	TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr1:12919829C>T	ENST00000240189.2	+	3	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	190					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.T190M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398													.|||	3	0.000599042	0	0	5008	,	,		25327	0		0	False		,,,				2504	0.0031					dbGAP											1	Substitution - Missense(1)	kidney(1)	1						C	MET/THR	0,4404		0,0,2202	162	177	172		569	-0.9	0	1		172	1,8587	1.2+/-3.3	0,1,4293	no	missense	PRAMEF2	NM_023014.1	81	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	190/475	12919829	1,12991	2202	4294	6496	12842416	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"-"	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.569C>T	1.37:g.12919829C>T	ENSP00000240189:p.Thr190Met	53	1.85	1					12842416	67	45.53	56		Missense_Mutation	SNP	superfamily_SSF52047	p.T190M	ENST00000240189.2	37	c.569	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.909161	0.00056	0.0	1.16E-4	ENSG00000120952	ENST00000240189	T	0.13901	2.55	0.842	-0.902	0.10537	.	1.724660	0.02998	N	0.147771	T	0.01940	0.0061	N	0.00289	-1.7	0.09310	N	1	P	0.36837	0.571	B	0.21360	0.034	T	0.33137	-0.9880	10	0.02654	T	1	.	3.084	0.06272	0.0:0.3627:0.0:0.6373	.	190	O60811	PRAM2_HUMAN	M	190	ENSP00000240189:T190M	ENSP00000240189:T190M	T	+	2	0	PRAMEF2	12842416	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.073000	0.14640	-0.260000	0.09418	0.194000	0.17425	ACG	-	superfamily_SSF52047		0.398	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	protein_coding	OTTHUMT00000005517.1	C	NM_023014		12842416	1	no_errors	NM_023014.1	genbank	human	provisional	54_36p	missense	SNP	0.002	T	T	12919829	C	T	12919829	3	4	59	1	0	0	0	0	1	0	0	0	12435	536	19	1	575	1	PRAMEF2	1	12919829	Missense_Mutation	SNP	C	TCGA-AB-2865-03B-01W-0728-08		12919829	236330792	1	637											
MYOM3	127294	genome.wustl.edu	37	1	24383989	24383989	+	Silent	SNP	G	G	A			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr1:24383989G>A	ENST00000374434.3	-	37	4341	c.4179C>T	c.(4177-4179)acC>acT	p.T1393T	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000330966.7_Silent_p.T1396T|MYOM3_ENST00000338909.5_Silent_p.T286T	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1393	Ig-like C2-type 4.					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)		CCTTCTCAATGGTGATGGTGA	0.557																																						dbGAP											0			1											107	107	107					1																	24383989		2034	4186	6220	24256576	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.4179C>T	1.37:g.24383989G>A		113	4.24	5					24256576	87	42.21	65	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.T1393	ENST00000374434.3	37	c.4179	CCDS41281.1	1																																																																																			-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.557	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	protein_coding	OTTHUMT00000008272.2	G	NM_152372		24256576	-1	no_errors	NM_152372.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	24383989	G	A	24383989	2	1	59	1	0	0	0	0	0	0	0	1	10093	1335	47	2		2	MYOM3	1	24383989	Silent	SNP	G	TCGA-AB-2865-03B-01W-0728-08	11464160	24383989	224866632	2	638											
MYOC	4653	genome.wustl.edu	37	1	171605485	171605485	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr1:171605485G>T	ENST00000037502.6	-	3	1166	c.1095C>A	c.(1093-1095)taC>taA	p.Y365*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	365	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACTGTCCGTGGTAGCCAGCTC	0.532																																						dbGAP											0			1											83	80	81					1																	171605485		2203	4300	6503	169872108	SO:0001587	stop_gained	0			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1095C>A	1.37:g.171605485G>T	ENSP00000037502:p.Tyr365*	111	1.77	2					169872108	128	42.41	95	B2RD84|O00620|Q7Z6Q9	Nonsense_Mutation	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.Y365*	ENST00000037502.6	37	c.1095	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007553	0.75046	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591	.	.	.	5.46	5.46	0.80206	.	0.152833	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.6957	0.51542	0.0815:0.0:0.9185:0.0	.	.	.	.	X	365;318;298	.	ENSP00000037502:Y365X	Y	-	3	2	MYOC	169872108	1.000000	0.71417	0.999000	0.59377	0.256000	0.26092	6.623000	0.74238	2.719000	0.93026	0.555000	0.69702	TAC	-	HMMPfam_OLF,HMMSmart_SM00284		0.532	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	protein_coding	OTTHUMT00000084178.2	G	NM_000261		169872108	-1	no_errors	NM_000261.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	171605485	G	T	171605485	4	4	59	1	0	0	0	0	0	1	0	0	10086	1256	44	4	423	4	MYOC	1	171605485	Nonsense_Mutation	SNP	G	TCGA-AB-2865-03B-01W-0728-08	147221496	171605485	77645136	3	639											
CLDN18	51208	genome.wustl.edu	37	3	137742541	137742541	+	Missense_Mutation	SNP	G	G	T	rs114998965	byFrequency	TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr3:137742541G>T	ENST00000183605.5	+	2	488	c.262G>T	c.(262-264)Gtc>Ttc	p.V88F	CLDN18_ENST00000343735.4_Missense_Mutation_p.V88F	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	88					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CGTAGGCATCGTCCTGGGTGC	0.542																																						dbGAP											0			3											139	108	119					3																	137742541		2203	4300	6503	139225231	SO:0001583	missense	0			AF221069, AY102073	CCDS3095.1, CCDS33862.1	3q	2008-08-27			ENSG00000066405	ENSG00000066405		"Claudins"	2039	protein-coding gene	gene with protein product		609210	"surfactant associated protein J"	SFTPJ			Standard	NM_001002026		Approved		uc003ero.1	P56856	OTTHUMG00000159762	ENST00000183605.5:c.262G>T	3.37:g.137742541G>T	ENSP00000183605:p.Val88Phe	292	0.34	1					139225231	87	50	89	A5PL21|Q96PH4	Missense_Mutation	SNP	HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN	p.V88F	ENST00000183605.5	37	c.262	CCDS3095.1	3	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816352	0.70912	.	.	ENSG00000066405	ENST00000343735;ENST00000183605	D;D	0.89746	-2.56;-2.56	5.6	5.6	0.85130	.	0.072088	0.53938	D	0.000048	D	0.93507	0.7928	L	0.56769	1.78	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.92946	0.6376	10	0.49607	T	0.09	.	19.6202	0.95653	0.0:0.0:1.0:0.0	.	88;88	P56856;P56856-2	CLD18_HUMAN;.	F	88	ENSP00000340939:V88F;ENSP00000183605:V88F	ENSP00000183605:V88F	V	+	1	0	CLDN18	139225231	1.000000	0.71417	0.834000	0.33040	0.720000	0.41350	5.487000	0.66863	2.644000	0.89710	0.655000	0.94253	GTC	-	HMMPfam_PMP22_Claudin		0.542	CLDN18-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLDN18	protein_coding	OTTHUMT00000357199.2	G	NM_001002026		139225231	1	no_errors	NM_001002026.2	genbank	human	validated	54_36p	missense	SNP	0.995	T	T	137742541	G	T	137742541	3	4	59	1	0	0	0	0	1	0	0	0	3479	1145	40	4	492	4	CLDN18	3	137742541	Missense_Mutation	SNP	G	TCGA-AB-2865-03B-01W-0728-08		137742541	60279889	4	640											
TET2	54790	genome.wustl.edu	37	4	106157938	106157938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr4:106157938C>T	ENST00000540549.1	+	3	3699	c.2839C>T	c.(2839-2841)Caa>Taa	p.Q947*	TET2_ENST00000305737.2_Nonsense_Mutation_p.Q947*|TET2_ENST00000545826.1_Nonsense_Mutation_p.Q947*|TET2_ENST00000413648.2_Nonsense_Mutation_p.Q947*|TET2_ENST00000513237.1_Nonsense_Mutation_p.Q968*|TET2_ENST00000380013.4_Nonsense_Mutation_p.Q947*|TET2_ENST00000394764.1_Nonsense_Mutation_p.Q947*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	947	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GAAGGACACTCAAAAGCATGC	0.493			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4											84	71	75					4																	106157938		2203	4300	6503	106377387	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2839C>T	4.37:g.106157938C>T	ENSP00000442788:p.Gln947*	89	7.29	7		22	45	18	106377387	70	38.98	46	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.Q947*	ENST00000540549.1	37	c.2839	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	43	9.912823	0.99294	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.79	4.93	0.64822	.	0.414504	0.17744	U	0.163469	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	16.042	0.80691	0.1354:0.8646:0.0:0.0	.	.	.	.	X	947;947;947;968;947;947;947	.	ENSP00000265149:Q947X	Q	+	1	0	TET2	106377387	1.000000	0.71417	0.119000	0.21687	0.866000	0.49608	5.673000	0.68109	1.406000	0.46857	0.655000	0.94253	CAA	-	NULL		0.493	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106377387	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	106157938	C	T	106157938	4	4	59	1	0	0	0	0	0	1	0	0	15767	827	29	2	2841	2	TET2	4	106157938	Nonsense_Mutation	SNP	C	TCGA-AB-2865-03B-01W-0728-08		106157938	84996338	5	641											
TET2	54790	genome.wustl.edu	37	4	106193801	106193802	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	-	-	-	AT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr4:106193801_106193802insAT	ENST00000540549.1	+	10	5123_5124	c.4263_4264insAT	c.(4264-4266)aaafs	p.K1422fs	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Frame_Shift_Ins_p.K1443fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.K1422fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1422					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1420fs*26(2)|p.Y1421fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGCCTTTATACAAAGTCTCTGA	0.465			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Deletion - Frameshift(2)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	4																																								106413251	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	Exception_encountered	4.37:g.106193801_106193802insAT	ENSP00000442788:p.Lys1422fs	47	0	0		27	25	9	106413250	129	32.46	62	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	NULL	p.K223fs	ENST00000540549.1	37	c.669_670	CCDS47120.1	4																																																																																			-	NULL		0.465	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	-	NM_017628		106413251	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_ins	INS	1.000:1.000	AT	AT	106193802	-	AT	106193801	7	5	59	1	0	1	1	0	0	0	0	0	15767	489	17	0	4382	0	TET2	4	106193801	Frame_Shift_Ins	INS	-	TCGA-AB-2865-03B-01W-0728-08	35863	106193801	84960475	6	642	5	2									
TET2	54790	genome.wustl.edu	37	4	106193802	106193803	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	-	-	-	TA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr4:106193802_106193803insTA	ENST00000540549.1	+	10	5124_5125	c.4264_4265insTA	c.(4264-4266)aaafs	p.K1422fs	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Frame_Shift_Ins_p.K1443fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.K1422fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1422					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L1420fs*26(2)|p.Y1421fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCTTTATACAAAGTCTCTGAC	0.47			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Deletion - Frameshift(2)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	4																																								106413252	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	Exception_encountered	4.37:g.106193802_106193803insTA	ENSP00000442788:p.Lys1422fs	48	0	0		37	0	0	106413251	191	0	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	NULL	p.K224fs	ENST00000540549.1	37	c.670_671	CCDS47120.1	4																																																																																			-	NULL		0.47	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	-	NM_017628		106413252	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_ins	INS	1.000:1.000	TA	TA	106193803	-	TA	106193802	7	5	59	1	0	1	1	0	0	0	0	0	15767	131	5	0	4383	0	TET2	4	106193802	Frame_Shift_Ins	INS	-	TCGA-AB-2865-03B-01W-0728-08	1	106193802	84960474	7	643	5	2									
TTBK1	84630	genome.wustl.edu	37	6	43230718	43230718	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr6:43230718A>G	ENST00000259750.4	+	13	1699	c.1616A>G	c.(1615-1617)gAc>gGc	p.D539G	TTBK1_ENST00000304139.5_Missense_Mutation_p.D488G	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	539					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GAGGATTTCGACAGCAAAGAG	0.642																																						dbGAP											0			6											91	66	74					6																	43230718		2203	4300	6503	43338696	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1616A>G	6.37:g.43230718A>G	ENSP00000259750:p.Asp539Gly	38	7.32	3					43338696	32	33.33	16	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.D539G	ENST00000259750.4	37	c.1616	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	A	21.5	4.163935	0.78226	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.26373	1.74	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.34745	0.0908	L	0.52573	1.65	0.44937	D	0.997953	D;D	0.69078	0.994;0.997	D;D	0.77004	0.979;0.989	T	0.18398	-1.0338	10	0.87932	D	0	.	13.0834	0.59127	1.0:0.0:0.0:0.0	.	62;539	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	G	488;539;488	ENSP00000259750:D539G	ENSP00000259750:D539G	D	+	2	0	TTBK1	43338696	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.962000	0.93254	2.085000	0.62840	0.454000	0.30748	GAC	-	NULL		0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	protein_coding	OTTHUMT00000040584.3	A			43338696	1	no_errors	NM_032538.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	43230718	A	G	43230718	3	3	59	1	0	0	0	0	1	0	0	0	16673	275	10	3	1662	3	TTBK1	6	43230718	Missense_Mutation	SNP	A	TCGA-AB-2865-03B-01W-0728-08		43230718	127884349	8	644											
SLC26A3	1811	genome.wustl.edu	37	7	107431676	107431676	+	Silent	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr7:107431676C>T	ENST00000340010.5	-	5	571	c.387G>A	c.(385-387)ccG>ccA	p.P129P	SLC26A3_ENST00000422236.2_Silent_p.P94P	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	129			P -> L (in DIAR1). {ECO:0000269|PubMed:21394828}.		anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAATCGGAAACGGACCTAATT	0.433																																						dbGAP											0			7											175	157	163					7																	107431676		2203	4300	6503	107218912	SO:0001819	synonymous_variant	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"Solute carriers"	3018	protein-coding gene	gene with protein product		126650	"congenital chloride diarrhea", "solute carrier family 26, member 3"	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.387G>A	7.37:g.107431676C>T		59	6.35	4					107218912	86	42.21	65		Silent	SNP	HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A	p.P129	ENST00000340010.5	37	c.387	CCDS5748.1	7																																																																																			-	NULL		0.433	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	protein_coding	OTTHUMT00000337190.1	C	NM_000111		107218912	-1	no_errors	NM_000111.2	genbank	human	reviewed	54_36p	silent	SNP	0.919	T	T	107431676	C	T	107431676	2	4	59	1	0	0	0	0	0	0	0	1	14518	523	19	1		1	SLC26A3	7	107431676	Silent	SNP	C	TCGA-AB-2865-03B-01W-0728-08		107431676	51706987	9	645											
PLXNA4	91584	genome.wustl.edu	37	7	131866295	131866295	+	Missense_Mutation	SNP	C	C	T	rs200749903		TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr7:131866295C>T	ENST00000359827.3	-	18	4299	c.3337G>A	c.(3337-3339)Gag>Aag	p.E1113K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1113K			Q9HCM2	PLXA4_HUMAN	plexin A4	1113	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.E1113K(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGGGCCTCTCGGTCAGGTCT	0.587													C|||	1	0.000199681	0	0.0014	5008	,	,		16688	0		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	breast(1)	7											102	105	104					7																	131866295		1919	4117	6036	131516835	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"Plexins"	9102	protein-coding gene	gene with protein product		604280	"plexin A4, A", "plexin A4, B"	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3337G>A	7.37:g.131866295C>T	ENSP00000352882:p.Glu1113Lys	138	1.43	2					131516835	73	46.72	64	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat	p.E1113K	ENST00000359827.3	37	c.3337	CCDS43646.1	7	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	23.1	4.374140	0.82573	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.59083	0.29;0.29	5.25	5.25	0.73442	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	N	0.25890	0.77	0.80722	D	1	B	0.27416	0.178	B	0.24394	0.053	T	0.35798	-0.9774	10	0.12766	T	0.61	.	18.8552	0.92249	0.0:1.0:0.0:0.0	.	1113	Q9HCM2	PLXA4_HUMAN	K	1113	ENSP00000323194:E1113K;ENSP00000352882:E1113K	ENSP00000323194:E1113K	E	-	1	0	PLXNA4	131516835	1.000000	0.71417	0.944000	0.38274	0.943000	0.58893	5.986000	0.70563	2.459000	0.83118	0.561000	0.74099	GAG	-	HMMPfam_TIG,HMMSmart_SM00429,superfamily_E set domains		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	protein_coding	OTTHUMT00000338422.2	C	NM_181775		131516835	-1	no_errors	NM_020911.1	genbank	human	validated	54_36p	missense	SNP	0.997	T	T	131866295	C	T	131866295	3	4	59	1	0	0	0	0	1	0	0	0	12122	893	31	1	2407	1	PLXNA4	7	131866295	Missense_Mutation	SNP	C	TCGA-AB-2865-03B-01W-0728-08	24434619	131866295	27272368	10	646											
EZH2	2146	genome.wustl.edu	37	7	148506162	148506162	+	Splice_Site	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr7:148506162C>T	ENST00000460911.1	-	19	2269		c.e19+1		EZH2_ENST00000541220.1_Splice_Site|EZH2_ENST00000350995.2_Splice_Site|EZH2_ENST00000483967.1_Splice_Site|EZH2_ENST00000478654.1_Splice_Site|EZH2_ENST00000320356.2_Splice_Site|EZH2_ENST00000476773.1_Splice_Site			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit						cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACTTTACCAACCTGTAATCAA	0.408			Mis		DLBCL																																	dbGAP		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)	7											110	101	104					7																	148506162		2203	4300	6503	148137095	SO:0001630	splice_region_variant	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2180+1G>A	7.37:g.148506162C>T		61	0	0		3	76.92	10	148137095	124	44.44	100	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Splice_Site	SNP	-	e18+1	ENST00000460911.1	37	c.2195+1	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	C	32	5.107461	0.94292	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.006	0.92851	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EZH2	148137095	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.566000	0.82347	2.481000	0.83766	0.579000	0.79373	.	-	-		0.408	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	protein_coding	OTTHUMT00000352744.1	C	NM_004456	Intron	148137095	-1	no_errors	NM_004456.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	148506162	C	T	148506162	5	4	59	1	0	0	0	0	0	0	1	0	5334	521	18	2	67	2	EZH2	7	148506162	Splice_Site	SNP	C	TCGA-AB-2865-03B-01W-0728-08	16639867	148506162	10632501	11	647											
PKHD1L1	93035	genome.wustl.edu	37	8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	rs202180175		TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			G|||	1	0.000199681	0	0	5008	,	,		15914	0		0.001	False		,,,				2504	0					dbGAP											0			8						G	HIS/ARG	1,3703		0,1,1851	187	176	180		1238	3.6	1	8		180	12,8170		0,12,4079	yes	missense	PKHD1L1	NM_177531.4	29	0,13,5930	AA,AG,GG		0.1467,0.027,0.1094	probably-damaging	413/4244	110412530	13,11873	1852	4091	5943	110481706	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1238G>A	8.37:g.110412530G>A	ENSP00000367655:p.Arg413His	77	1.28	1					110481706	70	36.28	41	Q567P2|Q9UF27	Missense_Mutation	SNP	HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen	p.R413H	ENST00000378402.5	37	c.1238	CCDS47911.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.68	3.871981	0.72180	2.7E-4	0.001467	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	5.42	3.63	0.41609	PA14 (1);	0.162251	0.41605	N	0.000845	T	0.72692	0.3492	L	0.39020	1.185	0.32838	D	0.504912	D	0.55385	0.971	P	0.50405	0.64	T	0.77381	-0.2609	10	0.62326	D	0.03	.	7.4721	0.27355	0.2644:0.0:0.7356:0.0	.	413	Q86WI1	PKHL1_HUMAN	H	413	ENSP00000367655:R413H	ENSP00000367655:R413H	R	+	2	0	PKHD1L1	110481706	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	3.601000	0.54059	0.661000	0.30985	-0.253000	0.11424	CGT	-	HMMSmart_SM00710,HMMSmart_SM00758,superfamily_Anthrax protective antigen		0.368	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110481706	1	no_errors	NM_177531.4	genbank	human	validated	54_36p	missense	SNP	0.999	A	A	110412530	G	A	110412530	3	1	59	1	0	0	0	0	1	0	0	0	11972	1145	40	1	1288	1	PKHD1L1	8	110412530	Missense_Mutation	SNP	G	TCGA-AB-2865-03B-01W-0728-08		110412530	35951492	12	648											
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91	81	85					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	11	0	0		23	25.81	8	25289551	80	14.89	14	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25289551	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25398284	C	T	25398284	3	4	59	1	0	0	0	0	1	0	0	0	8438	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-AB-2865-03B-01W-0728-08		25398284	108453611	13	649											
DIS3	22894	genome.wustl.edu	37	13	73345997	73345997	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr13:73345997C>T	ENST00000377767.4	-	11	1641	c.1541G>A	c.(1540-1542)aGg>aAg	p.R514K	DIS3_ENST00000377780.4_Missense_Mutation_p.R484K|DIS3_ENST00000545453.1_Missense_Mutation_p.R352K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	514					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTCCTGGCCTAATAAAATG	0.343										Multiple Myeloma(4;0.011)																												dbGAP											0			13											97	97	97					13																	73345997		2203	4300	6503	72243998	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1541G>A	13.37:g.73345997C>T	ENSP00000366997:p.Arg514Lys	40	11.11	5		19	41.18	14	72243998	94	40.49	66	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like	p.R514K	ENST00000377767.4	37	c.1541	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	C	14.74	2.626354	0.46840	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.32272	1.46;1.46;1.46	5.76	5.76	0.90799	Ribonuclease II/R (2);	0.045583	0.85682	N	0.000000	T	0.24736	0.0600	N	0.11698	0.16	0.80722	D	1	B;B	0.34313	0.448;0.299	B;B	0.43478	0.421;0.405	T	0.01977	-1.1236	10	0.02654	T	1	.	19.9721	0.97287	0.0:1.0:0.0:0.0	.	484;514	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	514;484;352	ENSP00000366997:R514K;ENSP00000367011:R484K;ENSP00000440058:R352K	ENSP00000366997:R514K	R	-	2	0	DIS3	72243998	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.807000	0.62576	2.724000	0.93272	0.462000	0.41574	AGG	-	HMMPfam_RNB		0.343	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	protein_coding	OTTHUMT00000045250.2	C	NM_014953		72243998	-1	no_errors	NM_014953.1	genbank	human	validated	54_36p	missense	SNP	0.986	T	T	73345997	C	T	73345997	3	4	59	1	0	0	0	0	1	0	0	0	4535	681	24	2	1379	2	DIS3	13	73345997	Missense_Mutation	SNP	C	TCGA-AB-2865-03B-01W-0728-08		73345997	41823881	14	650											
MYH4	4622	genome.wustl.edu	37	17	10355546	10355546	+	Silent	SNP	G	G	A			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr17:10355546G>A	ENST00000255381.2	-	27	3560	c.3450C>T	c.(3448-3450)atC>atT	p.I1150I	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1150					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCTCTCACTGATCTCCTCCA	0.612																																						dbGAP											0			17											78	87	84					17																	10355546		2203	4300	6503	10296271	SO:0001819	synonymous_variant	0				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"Myosins / Myosin superfamily : Class II"	7574	protein-coding gene	gene with protein product		160742	"myosin, heavy polypeptide 4, skeletal muscle"			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3450C>T	17.37:g.10355546G>A		61	6.15	4					10296271	60	32.61	30		Silent	SNP	HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_SSF52540	p.I1150	ENST00000255381.2	37	c.3450	CCDS11154.1	17																																																																																			-	HMMPfam_Myosin_tail_1		0.612	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533		10296271	-1	no_errors	NM_017533.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	10355546	G	A	10355546	2	1	59	1	0	0	0	0	0	0	0	1	10037	1280	45	2		2	MYH4	17	10355546	Silent	SNP	G	TCGA-AB-2865-03B-01W-0728-08		10355546	70839664	15	651											
PSG9	5678	genome.wustl.edu	37	19	43772024	43772024	+	Silent	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr19:43772024C>T	ENST00000270077.3	-	2	438	c.342G>A	c.(340-342)cgG>cgA	p.R114R	PSG9_ENST00000244293.7_Silent_p.R114R|PSG9_ENST00000418820.2_Silent_p.R114R|PSG9_ENST00000596730.1_Silent_p.R114R|PSG9_ENST00000593948.1_Silent_p.R114R|PSG9_ENST00000443718.3_Silent_p.R114R|PSG9_ENST00000291752.5_Silent_p.R114R	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	114	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CTGCATCCTTCCGGGTGACAT	0.418																																						dbGAP											0			19											286	260	269					19																	43772024		2203	4300	6503	48463864	SO:0001819	synonymous_variant	0			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.342G>A	19.37:g.43772024C>T		276	1.08	3					48463864	122	48.31	114	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin	p.R114	ENST00000270077.3	37	c.342	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	c	1.983	-0.433627	0.04669	.	.	ENSG00000183668	ENST00000418820	.	.	.	1.56	-0.88	0.10610	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27706	-1.0066	4	.	.	.	.	4.2525	0.10702	0.0:0.5832:0.0:0.4168	.	.	.	.	E	101	.	.	G	-	2	0	PSG9	48463864	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.868000	0.04236	-0.166000	0.10890	-0.708000	0.03648	GGA	-	HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin		0.418	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	protein_coding	OTTHUMT00000323065.1	C	NM_002784		48463864	-1	no_errors	NM_002784.3	genbank	human	validated	54_36p	silent	SNP	0.015	T	T	43772024	C	T	43772024	2	4	59	1	0	0	0	0	0	0	0	1	12662	842	30	2		2	PSG9	19	43772024	Silent	SNP	C	TCGA-AB-2865-03B-01W-0728-08		43772024	15356959	16	652											
RUNX1	861	genome.wustl.edu	37	21	36231792	36231792	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr21:36231792C>T	ENST00000344691.4	-	3	2088	c.511G>A	c.(511-513)Gat>Aat	p.D171N	RUNX1_ENST00000437180.1_Missense_Mutation_p.D198N|RUNX1_ENST00000399240.1_Missense_Mutation_p.D171N|RUNX1_ENST00000486278.2_Missense_Mutation_p.D174N|RUNX1_ENST00000325074.5_Missense_Mutation_p.D186N|RUNX1_ENST00000300305.3_Missense_Mutation_p.D198N|RUNX1_ENST00000358356.5_Missense_Mutation_p.D171N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	171	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.D198N(12)		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						CGGGGCCCATCCACTGTGATT	0.557			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	12	Substitution - Missense(12)	haematopoietic_and_lymphoid_tissue(10)|lung(2)	21	GRCh37	CM013280	RUNX1	M							295	258	270					21																	36231792		2203	4300	6503	35153662	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.511G>A	21.37:g.36231792C>T	ENSP00000340690:p.Asp171Asn	98	1.01	1		359	66.2	705	35153662	61	60.62	97	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.D198N	ENST00000344691.4	37	c.592	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.254153	0.95336	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99716	-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51;-6.51	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	0.99753	0.9901	M	0.91300	3.195	0.80722	D	1	D;D;D;P;P;D;D	0.76494	0.985;0.999;0.968;0.826;0.653;0.998;0.996	D;D;D;P;P;D;D	0.85130	0.934;0.997;0.964;0.748;0.48;0.934;0.995	D	0.97190	0.9857	10	0.87932	D	0	-14.8335	16.0721	0.80941	0.0:1.0:0.0:0.0	.	198;171;171;174;198;186;171	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	N	171;198;198;186;171;174;171;186;174	ENSP00000340690:D171N;ENSP00000300305:D198N;ENSP00000409227:D198N;ENSP00000319459:D186N;ENSP00000382184:D171N;ENSP00000351123:D171N;ENSP00000382182:D186N;ENSP00000438019:D174N	ENSP00000300305:D198N	D	-	1	0	RUNX1	35153662	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.486000	0.81215	2.377000	0.81083	0.655000	0.94253	GAT	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.557	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	C			35153662	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	36231792	C	T	36231792	3	4	59	1	0	0	0	0	1	0	0	0	13746	855	30	2	899	2	RUNX1	21	36231792	Missense_Mutation	SNP	C	TCGA-AB-2865-03B-01W-0728-08		36231792	11898103	17	653											
RUNX1	861	genome.wustl.edu	37	21	36252940	36252940	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr21:36252940G>A	ENST00000344691.4	-	2	1918	c.341C>T	c.(340-342)tCg>tTg	p.S114L	RUNX1_ENST00000437180.1_Missense_Mutation_p.S141L|RUNX1_ENST00000399240.1_Missense_Mutation_p.S114L|RUNX1_ENST00000486278.2_Missense_Mutation_p.S117L|RUNX1_ENST00000325074.5_Missense_Mutation_p.S129L|RUNX1_ENST00000300305.3_Missense_Mutation_p.S141L|RUNX1_ENST00000358356.5_Missense_Mutation_p.S114L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	114	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.S141*(2)|p.S141fs*4(1)|p.A142fs*3(1)|p.S141L(1)		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						CAGCTCAGCCGAGTAGTTTTC	0.498			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	5	Substitution - Nonsense(2)|Substitution - Missense(1)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(5)	21											120	103	109					21																	36252940		2203	4300	6503	35174810	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.341C>T	21.37:g.36252940G>A	ENSP00000340690:p.Ser114Leu	34	2.86	1		712	31.41	326	35174810	62	25.88	22	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.S141L	ENST00000344691.4	37	c.422	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996069	0.74703	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99466	-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95;-5.95	5.31	5.31	0.75309	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	0.99483	0.9816	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.997;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.989;0.984;0.998;0.937;0.975	D	0.98908	1.0779	10	0.87932	D	0	-16.5475	19.3355	0.94316	0.0:0.0:1.0:0.0	.	141;114;114;117;141;129;114	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	L	114;141;141;129;114;117;114;129;117;128	ENSP00000340690:S114L;ENSP00000300305:S141L;ENSP00000409227:S141L;ENSP00000319459:S129L;ENSP00000382184:S114L;ENSP00000351123:S114L;ENSP00000382182:S129L;ENSP00000438019:S117L;ENSP00000388189:S128L	ENSP00000300305:S141L	S	-	2	0	RUNX1	35174810	1.000000	0.71417	0.971000	0.41717	0.561000	0.35649	9.355000	0.97087	2.652000	0.90054	0.655000	0.94253	TCG	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.498	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35174810	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	36252940	G	A	36252940	3	1	59	1	0	0	0	0	1	0	0	0	13746	1059	37	1	1073	1	RUNX1	21	36252940	Missense_Mutation	SNP	G	TCGA-AB-2865-03B-01W-0728-08	21148	36252940	11876955	18	654											
CACNG2	10369	genome.wustl.edu	37	22	37098453	37098453	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chr22:37098453C>T	ENST00000300105.6	-	1	1150	c.169G>A	c.(169-171)Gtt>Att	p.V57I	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	57					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGGTCATAACTTCCTCGTTC	0.522																																						dbGAP											0			22											242	199	214					22																	37098453		2203	4300	6503	35428399	SO:0001583	missense	0			AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"Calcium channel subunits"	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.169G>A	22.37:g.37098453C>T	ENSP00000300105:p.Val57Ile	316	1.25	4					35428399	48	42.86	36	Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	HMMPfam_PMP22_Claudin	p.V57I	ENST00000300105.6	37	c.169	CCDS13931.1	22	.	.	.	.	.	.	.	.	.	.	c	5.636	0.302103	0.10678	.	.	ENSG00000166862	ENST00000300105	D	0.89123	-2.47	4.2	4.2	0.49525	.	0.000000	0.64402	U	0.000003	D	0.86843	0.6030	M	0.61703	1.905	0.52501	D	0.999955	P	0.43024	0.798	B	0.41466	0.358	D	0.85080	0.0945	10	0.10377	T	0.69	-5.2575	16.9822	0.86331	0.0:1.0:0.0:0.0	.	57	Q9Y698	CCG2_HUMAN	I	57	ENSP00000300105:V57I	ENSP00000300105:V57I	V	-	1	0	CACNG2	35428399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.284000	0.78650	2.050000	0.60909	0.546000	0.68486	GTT	-	HMMPfam_PMP22_Claudin		0.522	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG2	protein_coding	OTTHUMT00000075500.2	C			35428399	-1	no_errors	NM_006078.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	37098453	C	T	37098453	3	4	59	1	0	0	0	0	1	0	0	0	2557	565	20	2	818	2	CACNG2	22	37098453	Missense_Mutation	SNP	C	TCGA-AB-2865-03B-01W-0728-08		37098453	14206113	19	655											
ATP2B3	492	genome.wustl.edu	37	X	152825264	152825264	+	Silent	SNP	G	G	A			TCGA-AB-2865-03B-01W-0728-08	TCGA-AB-2865-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2f23cee2-d71d-474c-aa2c-0c1df979301c	fa23ecef-8a16-4fdb-8033-c547d06013bc	g.chrX:152825264G>A	ENST00000349466.2	+	17	3029	c.2703G>A	c.(2701-2703)acG>acA	p.T901T	ATP2B3_ENST00000370186.1_Silent_p.T887T|ATP2B3_ENST00000370181.2_Silent_p.T887T|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Silent_p.T887T|ATP2B3_ENST00000359149.3_Silent_p.T901T|ATP2B3_ENST00000263519.4_Silent_p.T901T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	901					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGCGACGGAGCCACCCA	0.597																																						dbGAP											0			X											84	72	76					X																	152825264		2203	4300	6503	152478458	SO:0001819	synonymous_variant	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2703G>A	X.37:g.152825264G>A		24	0	0					152478458	9	76.32	29	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M	p.T901	ENST00000349466.2	37	c.2703	CCDS35440.1	X																																																																																			-	HMMPfam_Cation_ATPase_C,superfamily_Calcium ATPase transmembrane domain M		0.597	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	protein_coding	OTTHUMT00000060957.1	G	NM_021949		152478458	1	no_errors	NM_001001344.1	genbank	human	reviewed	54_36p	silent	SNP	0.019	A	A	152825264	G	A	152825264	2	1	59	1	0	0	0	0	0	0	0	1	1141	1103	39	1		1	ATP2B3	23	152825264	Silent	SNP	G	TCGA-AB-2865-03B-01W-0728-08		152825264	2445296	20	656											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2866-03B-01W-0728-08	TCGA-AB-2866-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8c5db5cd-3e75-4126-af77-acd85694d165	cc0d8090-077b-4480-8205-bbe07ce258c6	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_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron	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	103	103					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	104	24.46	34		149	50.17	150	88432938	72	42.97	55	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	T	90631934	C	T	90631934	3	4	60	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2866-03B-01W-0728-08		90631934	11899458	1	657											
SPATA21	374955	genome.wustl.edu	37	1	16736345	16736345	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr1:16736345G>A	ENST00000335496.1	-	6	820	c.338C>T	c.(337-339)tCg>tTg	p.S113L	SPATA21_ENST00000540400.1_Missense_Mutation_p.S90L|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	113							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GGTCCTGGGCGACTTCTGGGC	0.672																																						dbGAP											0			1											32	39	37					1																	16736345		2203	4299	6502	16608932	SO:0001583	missense	0				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"EF-hand domain containing"	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.338C>T	1.37:g.16736345G>A	ENSP00000335612:p.Ser113Leu	390	2.24	9					16608932	183	30.42	80	B9EK40|F5GXP5	Missense_Mutation	SNP	PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473	p.S113L	ENST00000335496.1	37	c.338	CCDS172.1	1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.926902	0.34002	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.71103	-0.54;-0.52	4.07	0.876	0.19138	.	0.882556	0.09648	N	0.774056	T	0.53142	0.1778	L	0.34521	1.04	0.09310	N	1	B;B	0.21688	0.045;0.059	B;B	0.13407	0.009;0.009	T	0.34104	-0.9842	10	0.27785	T	0.31	-6.4679	3.638	0.08157	0.259:0.2062:0.5348:0.0	.	90;113	F5GXP5;Q7Z572	.;SPT21_HUMAN	L	113;90	ENSP00000335612:S113L;ENSP00000440046:S90L	ENSP00000335612:S113L	S	-	2	0	SPATA21	16608932	0.303000	0.24463	0.001000	0.08648	0.071000	0.16799	0.444000	0.21661	0.075000	0.16796	0.442000	0.29010	TCG	-	NULL		0.672	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA21	protein_coding	OTTHUMT00000006677.2	G	NM_198546		16608932	-1	no_errors	NM_198546.1	genbank	human	provisional	54_36p	missense	SNP	0.005	A	A	16736345	G	A	16736345	3	1	61	1	0	0	0	0	1	0	0	0	15006	1059	37	1	1103	1	SPATA21	1	16736345	Missense_Mutation	SNP	G	TCGA-AB-2867-03B-01W-0728-08		16736345	232514276	1	658											
OR2M3	127062	genome.wustl.edu	37	1	248367136	248367136	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr1:248367136T>A	ENST00000456743.1	+	1	805	c.767T>A	c.(766-768)tTg>tAg	p.L256*		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGCAGCTTTGTTCATGTAC	0.498																																						dbGAP											0			1											215	198	204					1																	248367136		2203	4300	6503	246433759	SO:0001587	stop_gained	0				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"GPCR / Class A : Olfactory receptors"	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.767T>A	1.37:g.248367136T>A	ENSP00000389625:p.Leu256*	136	2.13	3					246433759	143	32.86	70	B9EH06|Q6IEY0	Nonsense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.L256*	ENST00000456743.1	37	c.767	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.426255	0.43020	.	.	ENSG00000228198	ENST00000456743	.	.	.	2.54	1.37	0.22104	.	0.686149	0.10987	U	0.612049	.	.	.	.	.	.	0.49389	D	0.999787	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	6.1949	0.20544	0.0:0.2429:0.0:0.7571	.	.	.	.	X	256	.	ENSP00000389625:L256X	L	+	2	0	OR2M3	246433759	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.206000	0.17375	0.225000	0.20959	0.327000	0.21459	TTG	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.498	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	protein_coding	OTTHUMT00000097355.1	T	NM_001004689		246433759	1	no_errors	NM_001004689.1	genbank	human	provisional	54_36p	nonsense	SNP	0.000	A	A	248367136	T	A	248367136	4	1	61	1	0	0	0	0	0	1	0	0	11011	1821	63	5	769	5	OR2M3	1	248367136	Nonsense_Mutation	SNP	T	TCGA-AB-2867-03B-01W-0728-08	231630791	248367136	883485	2	659											
DNMT3A	1788	genome.wustl.edu	37	2	25458687	25458687	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr2:25458687T>C	ENST00000264709.3	-	22	2823	c.2486A>G	c.(2485-2487)aAa>aGa	p.K829R	DNMT3A_ENST00000380746.4_Missense_Mutation_p.K640R|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K606R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.K829R|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	829	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTCCTCACTTTGCTGAACTA	0.443			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											156	142	146					2																	25458687		2203	4300	6503	25312191	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2486A>G	2.37:g.25458687T>C	ENSP00000264709:p.Lys829Arg	208	4.55	10		9	70	21	25312191	45	38.67	29	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.K829R	ENST00000264709.3	37	c.2486	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	T	31	5.093519	0.94149	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96830	-4.14;-4.14;-4.14;-4.14	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.97607	0.9216	M	0.67700	2.07	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.987	D	0.98348	1.0542	10	0.87932	D	0	-5.6822	14.8303	0.70142	0.0:0.0:0.0:1.0	.	829;640	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	R	640;829;829;606	ENSP00000370122:K640R;ENSP00000324375:K829R;ENSP00000264709:K829R;ENSP00000384237:K606R	ENSP00000264709:K829R	K	-	2	0	DNMT3A	25312191	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.949000	0.87791	2.194000	0.70268	0.528000	0.53228	AAA	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.443	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	T	NM_022552		25312191	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	25458687	T	C	25458687	3	2	61	1	0	0	0	0	1	0	0	0	4676	1841	64	3	260	3	DNMT3A	2	25458687	Missense_Mutation	SNP	T	TCGA-AB-2867-03B-01W-0728-08		25458687	217740686	3	660											
DNMT3A	1788	genome.wustl.edu	37	2	25469055	25469055	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr2:25469055T>C	ENST00000264709.3	-	11	1740	c.1403A>G	c.(1402-1404)aAg>aGg	p.K468R	DNMT3A_ENST00000380746.4_Missense_Mutation_p.K279R|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K245R|DNMT3A_ENST00000321117.5_Missense_Mutation_p.K468R|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	468					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATAATCTCCTTGACCTTGGG	0.612			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											143	140	141					2																	25469055		2203	4300	6503	25322559	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1403A>G	2.37:g.25469055T>C	ENSP00000264709:p.Lys468Arg	84	1.16	1		27	10	3	25322559	22	31.25	10	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.K468R	ENST00000264709.3	37	c.1403	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	T	16.57	3.159426	0.57368	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.74	5.74	0.90152	.	0.050007	0.85682	D	0.000000	T	0.24699	0.0599	N	0.25890	0.77	0.80722	D	1	B;B	0.15141	0.012;0.001	B;B	0.16289	0.015;0.002	T	0.03202	-1.1061	10	0.62326	D	0.03	-14.0597	13.9916	0.64369	0.0:0.0:0.0:1.0	.	468;279	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	R	279;468;468;245	ENSP00000370122:K279R;ENSP00000324375:K468R;ENSP00000264709:K468R;ENSP00000384237:K245R	ENSP00000264709:K468R	K	-	2	0	DNMT3A	25322559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.833000	0.69349	2.188000	0.69820	0.533000	0.62120	AAG	-	NULL		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	T	NM_022552		25322559	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	25469055	T	C	25469055	3	2	61	1	0	0	0	0	1	0	0	0	4676	1609	56	3	1387	3	DNMT3A	2	25469055	Missense_Mutation	SNP	T	TCGA-AB-2867-03B-01W-0728-08	10368	25469055	217730318	4	661											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	115	3.31	4		17	56.41	22	208821358	48	37.66	29	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	61	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2867-03B-01W-0728-08	183644058	209113113	34086260	5	662											
NALCN	259232	genome.wustl.edu	37	13	101712314	101712314	+	Silent	SNP	C	C	T			TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr13:101712314C>T	ENST00000251127.6	-	42	4842	c.4761G>A	c.(4759-4761)caG>caA	p.Q1587Q	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1587					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACGACTGCTGCTGTTTCTATG	0.527																																						dbGAP											0			13											94	79	84					13																	101712314		2203	4300	6503	100510315	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4761G>A	13.37:g.101712314C>T		220	4.35	10					100510315	99	35.71	55	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels	p.Q1587	ENST00000251127.6	37	c.4761	CCDS9498.1	13																																																																																			-	NULL		0.527	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	protein_coding	OTTHUMT00000045663.2	C	NM_052867		100510315	-1	no_errors	NM_052867.2	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	101712314	C	T	101712314	2	4	61	1	0	0	0	0	0	0	0	1	10148	796	28	2		2	NALCN	13	101712314	Silent	SNP	C	TCGA-AB-2867-03B-01W-0728-08		101712314	13457564	6	663											
OXA1L	5018	genome.wustl.edu	37	14	23236556	23236556	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr14:23236556T>G	ENST00000604262.1	+	2	186	c.163T>G	c.(163-165)Ttc>Gtc	p.F55V	CTD-2555K7.2_ENST00000554730.1_RNA|OXA1L_ENST00000412791.1_Missense_Mutation_p.F55V|CTD-2555K7.2_ENST00000553792.1_RNA|CTD-2555K7.2_ENST00000554857.1_RNA|OXA1L_ENST00000358043.5_Missense_Mutation_p.F39V|OXA1L_ENST00000285848.5_Missense_Mutation_p.F115V			Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	55					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		ACACTACCTCTTCCTTGCGGC	0.602																																						dbGAP											0			14											46	45	45					14																	23236556		2203	4300	6503	22306396	SO:0001583	missense	0				CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000604262.1:c.163T>G	14.37:g.23236556T>G	ENSP00000474623:p.Phe55Val	107	1.83	2		65	36.27	37	22306396	43	30.65	19	B4DPA2	Missense_Mutation	SNP	HMMPfam_60KD_IMP	p.F115V	ENST00000604262.1	37	c.343		14	.	.	.	.	.	.	.	.	.	.	T	13.68	2.309944	0.40895	.	.	ENSG00000155463	ENST00000285848;ENST00000412791;ENST00000358043	T;T;T	0.28666	1.6;1.63;1.63	5.1	2.22	0.28083	.	0.706306	0.13187	N	0.407049	T	0.17109	0.0411	N	0.22421	0.69	0.22424	N	0.999118	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.17899	-1.0354	10	0.30854	T	0.27	-14.2613	4.31	0.10965	0.0:0.6039:0.1905:0.2056	.	55;55;55;115	B4DGZ2;E7EVY0;Q15070;Q2M1J6	.;.;OXA1L_HUMAN;.	V	115;55;39	ENSP00000285848:F115V;ENSP00000387601:F55V;ENSP00000350740:F39V	ENSP00000285848:F115V	F	+	1	0	OXA1L	22306396	0.000000	0.05858	0.634000	0.29324	0.137000	0.21094	-0.250000	0.08830	0.795000	0.33922	-0.242000	0.12053	TTC	-	NULL		0.602	OXA1L-012	NOVEL	basic|appris_principal	protein_coding	OXA1L	protein_coding	OTTHUMT00000468876.1	T	NM_005015		22306396	1	no_errors	NM_005015.3	genbank	human	validated	54_36p	missense	SNP	0.001	G	G	23236556	T	G	23236556	3	3	61	1	0	0	0	0	1	0	0	0	11328	1609	56	5	349	5	OXA1L	14	23236556	Missense_Mutation	SNP	T	TCGA-AB-2867-03B-01W-0728-08		23236556	84112984	7	664											
NID2	22795	genome.wustl.edu	37	14	52520434	52520434	+	Missense_Mutation	SNP	G	G	A	rs142884639		TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr14:52520434G>A	ENST00000216286.5	-	5	1291	c.1292C>T	c.(1291-1293)tCg>tTg	p.S431L	NID2_ENST00000541773.1_Missense_Mutation_p.S378L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	431					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ATCCATTTCCGAAGGCACTGG	0.537													G|||	1	0.000199681	0	0	5008	,	,		20204	0		0.001	False		,,,				2504	0					dbGAP											0			14						G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	87	84	85		1292	4.9	0.3	14	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NID2	NM_007361.3	145	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign	431/1376	52520434	3,13003	2203	4300	6503	51590184	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1292C>T	14.37:g.52520434G>A	ENSP00000216286:p.Ser431Leu	206	1.43	3					51590184	190	23.2	58	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	HMMPfam_Ldl_recept_b,HMMSmart_SM00135,PatternScan_ASX_HYDROXYL,HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMSmart_SM00179,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_YWTD domain	p.S431L	ENST00000216286.5	37	c.1292	CCDS9706.1	14	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.31	2.795561	0.50208	4.54E-4	1.16E-4	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83673	-1.75;-1.65	4.91	4.91	0.64330	.	1.049410	0.07390	N	0.888912	T	0.73442	0.3587	L	0.27053	0.805	0.31807	N	0.627637	P;P;B	0.44659	0.789;0.84;0.188	B;B;B	0.28465	0.09;0.06;0.006	T	0.73886	-0.3841	10	0.51188	T	0.08	.	17.037	0.86479	0.0:0.0:1.0:0.0	.	378;433;431	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	L	431;378;433	ENSP00000216286:S431L;ENSP00000443730:S378L	ENSP00000216286:S431L	S	-	2	0	NID2	51590184	0.367000	0.25023	0.252000	0.24328	0.056000	0.15407	4.095000	0.57728	2.530000	0.85305	0.655000	0.94253	TCG	-	NULL		0.537	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	protein_coding	OTTHUMT00000276888.1	G			51590184	-1	no_errors	NM_007361.3	genbank	human	validated	54_36p	missense	SNP	0.063	A	A	52520434	G	A	52520434	3	1	61	1	0	0	0	0	1	0	0	0	10415	1059	37	1	2907	1	NID2	14	52520434	Missense_Mutation	SNP	G	TCGA-AB-2867-03B-01W-0728-08	29283878	52520434	54829106	8	665											
CENPN	55839	genome.wustl.edu	37	16	81056223	81056223	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr16:81056223C>T	ENST00000305850.5	+	7	1343	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	CENPN_ENST00000439957.3_Missense_Mutation_p.H165Y|RP11-303E16.3_ENST00000562315.1_RNA|RP11-303E16.3_ENST00000561808.1_RNA|RP11-303E16.3_ENST00000566390.1_RNA|CENPN_ENST00000428963.2_Intron|CENPN_ENST00000393335.3_Missense_Mutation_p.H185Y|CENPN_ENST00000299572.5_Intron|CMC2_ENST00000565914.1_5'Flank	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	185					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						TGCTAGCAAACACCATCAGAT	0.368																																						dbGAP											0			16											92	92	92					16																	81056223		2012	4203	6215	79613724	SO:0001583	missense	0			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"chromosome 16 open reading frame 60"	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.553C>T	16.37:g.81056223C>T	ENSP00000305608:p.His185Tyr	160	3.01	5		0	0	0	79613724	74	34.51	39	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	HMMPfam_CHL4	p.H185Y	ENST00000305850.5	37	c.553	CCDS42200.1	16	.	.	.	.	.	.	.	.	.	.	C	5.815	0.334607	0.11013	.	.	ENSG00000166451	ENST00000305850;ENST00000439957;ENST00000393335	T;T;T	0.22539	1.95;1.95;1.95	5.95	3.78	0.43462	.	0.210963	0.51477	D	0.000098	T	0.10937	0.0267	L	0.34521	1.04	0.80722	D	1	B;B;B	0.21225	0.005;0.053;0.006	B;B;B	0.21708	0.007;0.036;0.017	T	0.13124	-1.0521	10	0.07325	T	0.83	-17.1624	2.0023	0.03470	0.3024:0.4489:0.0:0.2487	.	165;185;185	E7ETS3;A8MZE6;Q96H22	.;.;CENPN_HUMAN	Y	185;165;185	ENSP00000305608:H185Y;ENSP00000395235:H165Y;ENSP00000377007:H185Y	ENSP00000305608:H185Y	H	+	1	0	CENPN	79613724	0.998000	0.40836	1.000000	0.80357	0.914000	0.54420	1.508000	0.35769	1.483000	0.48342	0.655000	0.94253	CAC	-	HMMPfam_CHL4		0.368	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CENPN	protein_coding	OTTHUMT00000269051.1	C	NM_018455		79613724	1	no_errors	NM_001100625.1	genbank	human	validated	54_36p	missense	SNP	0.998	T	T	81056223	C	T	81056223	3	4	61	1	0	0	0	0	1	0	0	0	3238	478	17	2	575	2	CENPN	16	81056223	Missense_Mutation	SNP	C	TCGA-AB-2867-03B-01W-0728-08		81056223	9298530	9	666											
RIBC2	26150	genome.wustl.edu	37	22	45813582	45813582	+	Silent	SNP	G	G	A	rs141584704		TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chr22:45813582G>A	ENST00000342894.3	+	3	507	c.93G>A	c.(91-93)caG>caA	p.Q31Q	RIBC2_ENST00000538017.1_Silent_p.Q99Q			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	31						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ACTTCCAACAGAGCTTTCAGA	0.448																																						dbGAP											0			22											55	52	53					22																	45813582		2203	4300	6503	44192246	SO:0001819	synonymous_variant	0			AK098586		22q13.3	2004-08-18	2004-08-18	2004-08-18	ENSG00000128408	ENSG00000128408			13241	protein-coding gene	gene with protein product			"chromosome 22 open reading frame 11"	C22orf11		12477932	Standard	NM_015653		Approved	DKFZp566F0546, FLJ25720	uc011aqs.3	Q9H4K1	OTTHUMG00000151332	ENST00000342894.3:c.93G>A	22.37:g.45813582G>A		232	4.08	10		0	100	3	44192246	120	41.46	85	Q6ICD0|Q9Y413	Silent	SNP	HMMPfam_RIB43A	p.Q31	ENST00000342894.3	37	c.93		22																																																																																			-	HMMPfam_RIB43A		0.448	RIBC2-001	KNOWN	basic	protein_coding	RIBC2	protein_coding	OTTHUMT00000322250.1	G	NM_015653		44192246	1	no_errors	NM_015653.2	genbank	human	validated	54_36p	silent	SNP	0.149	A	A	45813582	G	A	45813582	2	1	61	1	0	0	0	0	0	0	0	1	13353	933	33	2		2	RIBC2	22	45813582	Silent	SNP	G	TCGA-AB-2867-03B-01W-0728-08		45813582	5490984	10	667											
KDM6A	7403	genome.wustl.edu	37	X	44923000	44923000	+	Missense_Mutation	SNP	C	C	T	rs139486036		TCGA-AB-2867-03B-01W-0728-08	TCGA-AB-2867-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b3f3ba24-dfbe-4b4b-8502-83ec6ecd7df3	4e18dd6e-74b8-41c3-9665-900c92d39bee	g.chrX:44923000C>T	ENST00000377967.4	+	16	1902	c.1861C>T	c.(1861-1863)Cgc>Tgc	p.R621C	KDM6A_ENST00000382899.4_Missense_Mutation_p.R628C|KDM6A_ENST00000543216.1_Missense_Mutation_p.R542C|KDM6A_ENST00000536777.1_Missense_Mutation_p.R576C	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	621	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACCTCATAACCGCACAAACCT	0.453			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	X						C	CYS/ARG	1,3834		0,0,1,1632,570	57	45	49		1861	5.3	1	X	dbSNP_134	49	1,6727		0,1,0,2427,1872	yes	missense	KDM6A	NM_021140.2	180	0,1,1,4059,2442	TT,TC,T,CC,C		0.0149,0.0261,0.0189	benign	621/1402	44923000	2,10561	2203	4300	6503	44807944	SO:0001583	missense	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1861C>T	X.37:g.44923000C>T	ENSP00000367203:p.Arg621Cys	116	5.65	7		26	25.71	9	44807944	73	34.82	39	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMSmart_JmjC,HMMPfam_JmjC,HMMSmart_TPR,superfamily_SSF48452	p.R621C	ENST00000377967.4	37	c.1861	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.93|14.93	2.682956|2.682956	0.47991|0.47991	2.61E-4|2.61E-4	1.49E-4|1.49E-4	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.16597	.|2.42;2.41;2.39;2.33	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.045909	.|0.85682	.|D	.|0.000000	T|T	0.21022|0.21022	0.0506|0.0506	N|N	0.03115|0.03115	-0.41|-0.41	0.80722|0.80722	D|D	1|1	.|B;D;B;B;B;B	.|0.89917	.|0.005;1.0;0.002;0.0;0.005;0.001	.|B;D;B;B;B;B	.|0.81914	.|0.001;0.995;0.002;0.002;0.001;0.001	T|T	0.45498|0.45498	-0.9257|-0.9257	5|10	.|0.31617	.|T	.|0.26	-2.2948|-2.2948	18.2207|18.2207	0.89901|0.89901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|260;628;576;673;587;621	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.|.;.;.;.;.;KDM6A_HUMAN	L|C	218;263|318;621;576;628;542	.|ENSP00000367203:R621C;ENSP00000437405:R576C;ENSP00000372355:R628C;ENSP00000443078:R542C	.|ENSP00000334340:R318C	P|R	+|+	2|1	0|0	KDM6A|KDM6A	44807944|44807944	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.443000|4.443000	0.59994|0.59994	2.327000|2.327000	0.79052|0.79052	0.513000|0.513000	0.50165|0.50165	CCG|CGC	-	NULL		0.453	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTX	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44807944	1	no_errors	NM_021140.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	44923000	C	T	44923000	3	4	61	1	0	0	0	0	1	0	0	0	8137	652	23	1	1923	1	KDM6A	23	44923000	Missense_Mutation	SNP	C	TCGA-AB-2867-03B-01W-0728-08		44923000	110347560	11	668											
SPEN	23013	genome.wustl.edu	37	1	16254684	16254684	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr1:16254684A>C	ENST00000375759.3	+	11	2153	c.1949A>C	c.(1948-1950)tAt>tCt	p.Y650S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	650	Arg-rich.|Tyr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGGCGGGACTATCCAGCTCGA	0.458																																						dbGAP											0			1											98	99	99					1																	16254684		2203	4300	6503	16127271	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1949A>C	1.37:g.16254684A>C	ENSP00000364912:p.Tyr650Ser	108	0.92	1		26	38.1	16	16127271	104	35	56	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928	p.Y650S	ENST00000375759.3	37	c.1949	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621553	0.46736	.	.	ENSG00000065526	ENST00000375759	T	0.09723	2.95	4.54	4.54	0.55810	.	.	.	.	.	T	0.20981	0.0505	L	0.34521	1.04	0.58432	D	0.999997	D	0.89917	1.0	D	0.69307	0.963	T	0.01262	-1.1402	9	0.41790	T	0.15	-4.1593	14.3397	0.66617	1.0:0.0:0.0:0.0	.	650	Q96T58	MINT_HUMAN	S	650	ENSP00000364912:Y650S	ENSP00000364912:Y650S	Y	+	2	0	SPEN	16127271	1.000000	0.71417	0.988000	0.46212	0.964000	0.63967	6.792000	0.75125	2.034000	0.60081	0.460000	0.39030	TAT	-	NULL		0.458	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	A	NM_015001		16127271	1	no_errors	NM_015001.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	16254684	A	C	16254684	3	2	62	1	0	0	0	0	1	0	0	0	15037	449	16	5	1991	5	SPEN	1	16254684	Missense_Mutation	SNP	A	TCGA-AB-2868-03B-01W-0728-08		16254684	232995937	1	669											
CATSPER4	378807	genome.wustl.edu	37	1	26524486	26524486	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr1:26524486C>A	ENST00000456354.2	+	5	663	c.596C>A	c.(595-597)cCc>cAc	p.P199H		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	199					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTGGAGCCCCTCGCCCGG	0.637																																						dbGAP											0			1											132	121	125					1																	26524486		2203	4300	6503	26397073	SO:0001583	missense	0			BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"Voltage-gated ion channels / Cation channels, sperm associated"	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.596C>A	1.37:g.26524486C>A	ENSP00000390423:p.Pro199His	202	0.49	1					26397073	106	22.06	30	A1A4W6|Q5VY71	Missense_Mutation	SNP	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels	p.P199H	ENST00000456354.2	37	c.596	CCDS30645.1	1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496506	0.64186	.	.	ENSG00000188782	ENST00000338855;ENST00000456354	D;D	0.98313	-4.86;-4.86	5.0	3.08	0.35506	Ion transport (1);	0.000000	0.51477	D	0.000094	D	0.98194	0.9403	M	0.68952	2.095	0.29745	N	0.836801	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	D	0.95199	0.8315	10	0.87932	D	0	-25.2338	6.8342	0.23927	0.0:0.7254:0.1774:0.0972	.	199;199	Q7RTX7;Q7RTX7-2	CTSR4_HUMAN;.	H	199	ENSP00000341006:P199H;ENSP00000390423:P199H	ENSP00000341006:P199H	P	+	2	0	CATSPER4	26397073	0.999000	0.42202	1.000000	0.80357	0.984000	0.73092	1.978000	0.40598	0.480000	0.27534	0.563000	0.77884	CCC	-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.637	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER4	protein_coding	OTTHUMT00000019849.2	C	NM_198137		26397073	1	no_errors	NM_198137.1	genbank	human	validated	54_36p	missense	SNP	0.993	A	A	26524486	C	A	26524486	3	1	62	1	0	0	0	0	1	0	0	0	2690	623	22	4	614	4	CATSPER4	1	26524486	Missense_Mutation	SNP	C	TCGA-AB-2868-03B-01W-0728-08	10269802	26524486	222726135	2	670											
LRBA	987	genome.wustl.edu	37	4	151821353	151821353	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr4:151821353T>C	ENST00000357115.3	-	14	2015	c.1772A>G	c.(1771-1773)tAt>tGt	p.Y591C	LRBA_ENST00000507224.1_Missense_Mutation_p.Y591C|LRBA_ENST00000535741.1_Missense_Mutation_p.Y591C|LRBA_ENST00000510413.1_Missense_Mutation_p.Y591C	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	591						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CAGATAAGTATAGAGCATCAG	0.393																																						dbGAP											0			4											101	95	97					4																	151821353		2203	4300	6503	152040803	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"WD repeat domain containing"	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.1772A>G	4.37:g.151821353T>C	ENSP00000349629:p.Tyr591Cys	197	1.01	2		22	40.54	15	152040803	101	26.81	37	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_DUF1088,superfamily_WD40 repeat-like,superfamily_ARM repeat,HMMPfam_WD40,superfamily_PH domain-like	p.Y591C	ENST00000357115.3	37	c.1772	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	T	22.6	4.309937	0.81247	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.59	5.59	0.84812	Armadillo-type fold (1);	0.000000	0.64402	D	0.000007	T	0.55561	0.1928	M	0.83012	2.62	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.998;0.999	T	0.62445	-0.6853	10	0.87932	D	0	.	15.7574	0.78046	0.0:0.0:0.0:1.0	.	591;591;591	E9PEM5;P50851;P50851-2	.;LRBA_HUMAN;.	C	591	ENSP00000446299:Y591C;ENSP00000421552:Y591C;ENSP00000349629:Y591C;ENSP00000422180:Y591C	ENSP00000349629:Y591C	Y	-	2	0	LRBA	152040803	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.991000	0.88244	2.112000	0.64535	0.533000	0.62120	TAT	-	superfamily_ARM repeat		0.393	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	protein_coding	OTTHUMT00000364939.1	T			152040803	-1	no_errors	NM_006726.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	151821353	T	C	151821353	3	2	62	1	0	0	0	0	1	0	0	0	8931	1406	49	3	6999	3	LRBA	4	151821353	Missense_Mutation	SNP	T	TCGA-AB-2868-03B-01W-0728-08		151821353	39332923	3	671											
PHACTR1	221692	genome.wustl.edu	37	6	13206329	13206329	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr6:13206329T>G	ENST00000379350.1	+	7	1076	c.947T>G	c.(946-948)cTc>cGc	p.L316R	PHACTR1_ENST00000457702.2_Missense_Mutation_p.L171R|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.L316R			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	316					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ATAGACGAGCTCAACAAAACG	0.647																																						dbGAP											0			6											18	20	19					6																	13206329		2017	4176	6193	13314308	SO:0001583	missense	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"Phosphatase and actin regulators"	20990	protein-coding gene	gene with protein product		608723	"RPEL repeat containing 1"	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.947T>G	6.37:g.13206329T>G	ENSP00000368655:p.Leu316Arg	110	0	0		6	14.29	1	13314308	159	19.7	39	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	HMMPfam_RPEL,HMMSmart_SM00707	p.L316R	ENST00000379350.1	37	c.947		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.991190|3.991190	0.74703|0.74703	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934;ENST00000457702|ENST00000415087	T;T;T|.	0.60171|.	0.21;0.49;0.53|.	4.85|4.85	4.85|4.85	0.62838|0.62838	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.39200|0.39200	0.1069|0.1069	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.83275|.	0.988;0.99;0.996|.	T|T	0.33420|0.33420	-0.9869|-0.9869	10|5	0.72032|.	D|.	0.01|.	-10.2039|-10.2039	13.7771|13.7771	0.63059|0.63059	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	385;316;316|.	E7ESR5;Q9C0D0;Q9C0D0-2|.	.;PHAR1_HUMAN;.|.	R|A	316;316;385;171|151	ENSP00000368655:L316R;ENSP00000329880:L316R;ENSP00000397669:L171R|.	ENSP00000329880:L316R|.	L|S	+|+	2|1	0|0	PHACTR1|PHACTR1	13314308|13314308	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.203000|7.203000	0.77864|0.77864	2.026000|2.026000	0.59711|0.59711	0.459000|0.459000	0.35465|0.35465	CTC|TCA	-	NULL		0.647	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHACTR1	protein_coding	OTTHUMT00000039876.1	T	XM_166420		13314308	1	no_errors	NM_030948.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	13206329	T	G	13206329	3	3	62	1	0	0	0	0	1	0	0	0	11809	1551	54	5	969	5	PHACTR1	6	13206329	Missense_Mutation	SNP	T	TCGA-AB-2868-03B-01W-0728-08		13206329	157908738	4	672											
LZTS1	11178	genome.wustl.edu	37	8	20110868	20110868	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr8:20110868G>C	ENST00000381569.1	-	3	931	c.574C>G	c.(574-576)Cag>Gag	p.Q192E	LZTS1_ENST00000522290.1_Missense_Mutation_p.Q192E|LZTS1_ENST00000265801.6_Missense_Mutation_p.Q192E			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	192					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GGGTCCAGCTGGTAGCTGCTG	0.647																																						dbGAP											0			8											42	50	47					8																	20110868		2203	4300	6503	20155148	SO:0001583	missense	0			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"F37/Esophageal cancer-related gene-coding leucine-zipper motif"			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.574C>G	8.37:g.20110868G>C	ENSP00000370981:p.Gln192Glu	91	0	0					20155148	97	34.9	52	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	HMMPfam_Fez1	p.Q192E	ENST00000381569.1	37	c.574	CCDS6015.1	8	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344175	0.82022	.	.	ENSG00000061337	ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	T;T;T	0.22539	2.28;2.28;1.95	5.93	5.93	0.95920	.	0.173838	0.53938	D	0.000042	T	0.30696	0.0773	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.76494	0.999;0.996	P;P	0.61533	0.89;0.836	T	0.01326	-1.1384	10	0.02654	T	1	-54.1362	18.9075	0.92469	0.0:0.0:1.0:0.0	.	192;192	Q9Y250-4;Q9Y250	.;LZTS1_HUMAN	E	192	ENSP00000370981:Q192E;ENSP00000265801:Q192E;ENSP00000429263:Q192E	ENSP00000265801:Q192E	Q	-	1	0	LZTS1	20155148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.842000	0.86851	2.815000	0.96918	0.561000	0.74099	CAG	-	NULL		0.647	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTS1	protein_coding	OTTHUMT00000214122.1	G	NM_021020		20155148	-1	no_errors	NM_021020.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	20110868	G	C	20110868	3	2	62	1	0	0	0	0	1	0	0	0	9138	1357	47	4	1224	4	LZTS1	8	20110868	Missense_Mutation	SNP	G	TCGA-AB-2868-03B-01W-0728-08		20110868	126253154	5	673											
FLJ43860	389690	genome.wustl.edu	37	8	142486214	142486214	+	RNA	SNP	C	C	T			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr8:142486214C>T	ENST00000430863.1	-	0	1559					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		GGAGCTGAGACTTCCTTTCCA	0.612																																						dbGAP											0			8											23	28	26					8																	142486214		2039	4198	6237	142555396			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142486214C>T		55	0	0					142555396	120	20	30		Silent	SNP	HMMPfam_HEAT,superfamily_ARM repeat	p.K493	ENST00000430863.1	37	c.1479		8																																																																																			-	NULL		0.612	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	polymorphic_pseudogene	OTTHUMT00000342412.4	C	NM_207414		142555396	-1	pseudogene	NM_207414.2	genbank	human	validated	54_36p	silent	SNP	0.033	T	T	142486214	C	T	142486214	1	4	62	0	1	0	0	0	0	0	0	0	5930	564	20	2		2	FLJ43860	8	142486214	RNA	SNP	C	TCGA-AB-2868-03B-01W-0728-08	122375346	142486214	3877808	6	674											
STK33	65975	genome.wustl.edu	37	11	8474453	8474453	+	Splice_Site	SNP	C	C	A			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr11:8474453C>A	ENST00000447869.1	-	7	1705	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	STK33_ENST00000396672.1_Splice_Site_p.V263L|STK33_ENST00000534493.1_Splice_Site_p.V222L|STK33_ENST00000358872.3_Splice_Site_p.V76L|STK33_ENST00000315204.1_Splice_Site_p.V263L|STK33_ENST00000396673.1_Splice_Site_p.V263L|STK33_ENST00000473980.1_5'UTR			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAATCAGTCACCTGGGAGAAG	0.443																																						dbGAP											0			11											111	116	114					11																	8474453		2201	4296	6497	8431029	SO:0001630	splice_region_variant	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.787-1G>T	11.37:g.8474453C>A		131	0	0					8431029	169	26.52	61	Q658S6|Q8NEF5	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.V263L	ENST00000447869.1	37	c.787	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	C	14.73	2.621255	0.46736	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493;ENST00000524760	T;T;T;T;T;T;T;T	0.15952	2.55;2.55;2.55;2.55;2.55;2.55;2.55;2.38	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.09468	0.0233	N	0.00960	-1.095	0.58432	D	0.999999	B	0.27910	0.193	B	0.38378	0.272	T	0.44436	-0.9328	10	0.52906	T	0.07	.	15.6882	0.77426	0.0:1.0:0.0:0.0	.	263	Q9BYT3	STK33_HUMAN	L	263;263;263;76;263;18;222;175	ENSP00000416750:V263L;ENSP00000320754:V263L;ENSP00000379905:V263L;ENSP00000351743:V76L;ENSP00000379906:V263L;ENSP00000415688:V18L;ENSP00000436418:V222L;ENSP00000436905:V175L	ENSP00000320754:V263L	V	-	1	0	STK33	8431029	1.000000	0.71417	1.000000	0.80357	0.583000	0.36354	5.753000	0.68736	2.443000	0.82685	0.491000	0.48974	GTG	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.443	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	protein_coding	OTTHUMT00000276819.2	C	NM_030906	Missense_Mutation	8431029	-1	no_errors	NM_030906.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	8474453	C	A	8474453	5	1	62	1	0	0	0	0	0	0	1	0	15299	521	18	4	781	4	STK33	11	8474453	Splice_Site	SNP	C	TCGA-AB-2868-03B-01W-0728-08		8474453	126532063	7	675											
C1RL	51279	genome.wustl.edu	37	12	7249465	7249465	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr12:7249465C>T	ENST00000266542.4	-	6	1078	c.986G>A	c.(985-987)cGt>cAt	p.R329H	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	329	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCATTCTGACGGTAGTCGGG	0.587																																						dbGAP											0			12											168	132	144					12																	7249465		2203	4300	6503	7140607	SO:0001583	missense	0			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.986G>A	12.37:g.7249465C>T	ENSP00000266542:p.Arg329His	172	0	0		20	35.48	11	7140607	129	27.93	50	Q53GX9	Missense_Mutation	SNP	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_SER	p.R329H	ENST00000266542.4	37	c.986	CCDS8573.1	12	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815570	0.32145	.	.	ENSG00000139178	ENST00000266542;ENST00000396661	D	0.88975	-2.45	4.98	1.16	0.20824	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.409080	0.25514	N	0.030153	T	0.80138	0.4568	L	0.33137	0.985	0.09310	N	0.999998	B	0.25441	0.126	B	0.22386	0.039	T	0.65376	-0.6183	10	0.31617	T	0.26	.	8.7566	0.34650	0.0:0.6009:0.0:0.3991	.	329	Q9NZP8	C1RL_HUMAN	H	329	ENSP00000266542:R329H	ENSP00000266542:R329H	R	-	2	0	C1RL	7140607	0.001000	0.12720	0.108000	0.21378	0.785000	0.44390	-0.104000	0.10923	0.043000	0.15746	0.511000	0.50034	CGT	-	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases		0.587	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	protein_coding	OTTHUMT00000398367.1	C	NM_016546		7140607	-1	no_errors	NM_016546.1	genbank	human	provisional	54_36p	missense	SNP	0.357	T	T	7249465	C	T	7249465	3	4	62	1	0	0	0	0	1	0	0	0	1973	536	19	1	481	1	C1RL	12	7249465	Missense_Mutation	SNP	C	TCGA-AB-2868-03B-01W-0728-08		7249465	126602430	8	676											
RFX4	5992	genome.wustl.edu	37	12	107075813	107075813	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr12:107075813G>A	ENST00000392842.1	+	5	772	c.358G>A	c.(358-360)Ggg>Agg	p.G120R	RFX4_ENST00000229387.5_5'Flank|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.G129R|RP11-482D24.2_ENST00000547531.1_RNA	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	120					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CAGAAGACTCGGGACCCGAGG	0.522																																						dbGAP											0			12											140	129	132					12																	107075813		2203	4300	6503	105599943	SO:0001583	missense	0			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.358G>A	12.37:g.107075813G>A	ENSP00000376585:p.Gly120Arg	163	0	0					105599943	194	25.1	65	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	HMMPfam_RFX_DNA_binding,superfamily_SSF46785	p.G120R	ENST00000392842.1	37	c.358	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	G	27.3	4.817751	0.90790	.	.	ENSG00000111783	ENST00000392842;ENST00000549040;ENST00000357881;ENST00000266774;ENST00000551640	D;D;D;D	0.95137	-3.62;-3.62;-3.62;-3.62	5.43	4.54	0.55810	Winged helix-turn-helix transcription repressor DNA-binding (1);DNA-binding RFX (1);	0.045370	0.85682	N	0.000000	D	0.97374	0.9141	M	0.88704	2.975	0.80722	D	1	B;D;D	0.76494	0.14;0.995;0.999	B;D;D	0.70487	0.031;0.923;0.969	D	0.98095	1.0411	10	0.87932	D	0	-25.0318	14.4982	0.67704	0.0709:0.0:0.9291:0.0	.	129;129;120	Q33E94-2;Q33E94-4;Q33E94	.;.;RFX4_HUMAN	R	120;37;129;129;65	ENSP00000376585:G120R;ENSP00000447735:G37R;ENSP00000350552:G129R;ENSP00000448694:G65R	ENSP00000266774:G129R	G	+	1	0	RFX4	105599943	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.291000	0.96070	1.422000	0.47177	0.609000	0.83330	GGG	-	HMMPfam_RFX_DNA_binding,superfamily_SSF46785		0.522	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	protein_coding	OTTHUMT00000402707.1	G	NM_032491		105599943	1	no_errors	NM_213594.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	107075813	G	A	107075813	3	1	62	1	0	0	0	0	1	0	0	0	13265	1116	39	1	450	1	RFX4	12	107075813	Missense_Mutation	SNP	G	TCGA-AB-2868-03B-01W-0728-08	99826348	107075813	26776082	9	677											
ZC3H18	124245	genome.wustl.edu	37	16	88666346	88666346	+	Missense_Mutation	SNP	A	A	G	rs374973909		TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr16:88666346A>G	ENST00000301011.5	+	6	1278	c.1078A>G	c.(1078-1080)Aga>Gga	p.R360G	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R384G	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	360						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GAGAGATGTCAGAGACACAGT	0.542																																					Ovarian(121;375 2276 20373 38669)	dbGAP											0			16						A	GLY/ARG	1,4395	2.1+/-5.4	0,1,2197	84	92	89		1078	2.3	1	16		89	0,8600		0,0,4300	no	missense	ZC3H18	NM_144604.3	125	0,1,6497	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	360/954	88666346	1,12995	2198	4300	6498	87193847	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1078A>G	16.37:g.88666346A>G	ENSP00000301011:p.Arg360Gly	35	0	0		61	39.6	40	87193847	64	27.27	24	Q96DG4|Q96MP7	Missense_Mutation	SNP	HMMPfam_zf-CCCH,HMMSmart_SM00356	p.R360G	ENST00000301011.5	37	c.1078	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	A	12.16	1.853726	0.32791	2.27E-4	0.0	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.34472	1.38;1.36	4.67	2.33	0.28932	.	0.049004	0.85682	D	0.000000	T	0.53334	0.1790	M	0.63843	1.955	0.51012	D	0.999903	D;D;D	0.61080	0.989;0.989;0.989	D;D;D	0.75020	0.985;0.985;0.985	T	0.47355	-0.9124	10	0.40728	T	0.16	-19.2761	12.8033	0.57598	0.3748:0.6252:0.0:0.0	.	384;384;360	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	G	360;384;384;243	ENSP00000301011:R360G;ENSP00000416951:R384G	ENSP00000289509:R384G	R	+	1	2	ZC3H18	87193847	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	0.660000	0.25009	0.218000	0.20820	0.459000	0.35465	AGA	-	NULL		0.542	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	protein_coding	OTTHUMT00000269168.1	A	NM_144604		87193847	1	no_errors	NM_144604.2	genbank	human	provisional	54_36p	missense	SNP	1.000	G	G	88666346	A	G	88666346	3	3	62	1	0	0	0	0	1	0	0	0	17565	180	7	3	1096	3	ZC3H18	16	88666346	Missense_Mutation	SNP	A	TCGA-AB-2868-03B-01W-0728-08		88666346	1688407	10	678											
TP53	7157	genome.wustl.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	17											42	42	42					17																	7578555		2203	4300	6503	7519280	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		281	0	0		5	50	5	7519280	97	45.2	80	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e4-1	ENST00000269305.4	37	c.376-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.	-	-		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	Intron	7519280	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	7578555	C	T	7578555	5	4	62	1	0	0	0	0	0	0	1	0	16378	579	20	2	923	2	TP53	17	7578555	Splice_Site	SNP	C	TCGA-AB-2868-03B-01W-0728-08		7578555	73616655	11	679											
MCART2	147407	genome.wustl.edu	37	18	29339843	29339843	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr18:29339843C>T	ENST00000579441.2	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	SLC25A52_ENST00000269205.5_Missense_Mutation_p.R271Q			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	261					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TTTTCTGTCCCGTTCCAGCCA	0.408																																						dbGAP											0			18											24	26	25					18																	29339843		2183	4251	6434	27593841	SO:0001583	missense	0				CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"Solute carriers"	23324	protein-coding gene	gene with protein product			"mitochondrial carrier triple repeat 2"	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.782G>A	18.37:g.29339843C>T	ENSP00000462754:p.Arg261Gln	70	0	0		1	0	0	27593841	54	36.47	31		Missense_Mutation	SNP	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr	p.R261Q	ENST00000579441.2	37	c.782		18	.	.	.	.	.	.	.	.	.	.	C	22.4	4.279213	0.80692	.	.	ENSG00000141437	ENST00000269205;ENST00000535708	T	0.78481	-1.18	1.75	-0.525	0.11917	Mitochondrial carrier domain (2);	0.072812	0.52532	N	0.000076	D	0.84964	0.5589	M	0.86268	2.805	0.51233	D	0.999918	D	0.89917	1.0	D	0.79784	0.993	T	0.80665	-0.1281	10	0.56958	D	0.05	.	5.9079	0.19010	0.0:0.6854:0.0:0.3146	.	261	Q3SY17	MCAR2_HUMAN	Q	271;261	ENSP00000372612:R271Q	ENSP00000372612:R271Q	R	-	2	0	MCART2	27593841	1.000000	0.71417	0.142000	0.22268	0.886000	0.51366	4.925000	0.63425	-0.333000	0.08476	0.505000	0.49811	CGG	-	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr		0.408	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	MCART2	protein_coding		C	XM_084000		27593841	-1	no_errors	NM_001034172.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	29339843	C	T	29339843	3	4	62	1	0	0	0	0	1	0	0	0	9370	652	23	1	115	1	MCART2	18	29339843	Missense_Mutation	SNP	C	TCGA-AB-2868-03B-01W-0728-08		29339843	48737405	12	680											
PLEKHG2	64857	genome.wustl.edu	37	19	39913763	39913763	+	Missense_Mutation	SNP	C	C	T	rs370446591		TCGA-AB-2868-03B-01W-0728-08	TCGA-AB-2868-11B-01W-0729-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	865e8aa5-ec81-46af-acbc-e3becd24a1dd	10afa5bd-b1eb-4f78-8ae2-5e7df48d2c6e	g.chr19:39913763C>T	ENST00000409794.3	+	18	2919	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.S631F|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.S661F|CTB-60E11.4_ENST00000601124.1_lincRNA	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	690					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCACCCTCTCCTGTGACTCC	0.567																																						dbGAP											0			19						C	PHE/SER	0,4406		0,0,2203	80	90	87		2069	4.3	0.9	19		87	1,8597		0,1,4298	no	missense	PLEKHG2	NM_022835.2	155	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	690/1387	39913763	1,13003	2203	4299	6502	44605603	SO:0001583	missense	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.2069C>T	19.37:g.39913763C>T	ENSP00000386733:p.Ser690Phe	214	0	0		25	10.71	3	44605603	272	19.53	66	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like	p.S648F	ENST00000409794.3	37	c.1943	CCDS33022.2	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.604|9.604	1.129412|1.129412	0.21041|0.21041	0.0|0.0	1.16E-4|1.16E-4	ENSG00000090924|ENSG00000090924	ENST00000205135|ENST00000409794;ENST00000425673;ENST00000458508	.|T;T;T	.|0.70164	.|-0.33;-0.33;-0.46	5.4|5.4	4.31|4.31	0.51392|0.51392	.|.	.|0.154150	.|0.30911	.|N	.|0.008622	T|T	0.45915|0.45915	0.1366|0.1366	N|N	0.08118|0.08118	0|0	0.28633|0.28633	N|N	0.90754|0.90754	.|P;P;P	.|0.42620	.|0.785;0.553;0.553	.|B;B;B	.|0.38056	.|0.264;0.135;0.135	T|T	0.54761|0.54761	-0.8245|-0.8245	5|10	.|0.87932	.|D	.|0	.|.	13.8912|13.8912	0.63740|0.63740	0.1525:0.8475:0.0:0.0|0.1525:0.8475:0.0:0.0	.|.	.|661;690;631	.|Q9H7P9-3;Q9H7P9;E7ESZ3	.|.;PKHG2_HUMAN;.	S|F	558|690;661;631	.|ENSP00000386733:S690F;ENSP00000392906:S661F;ENSP00000408857:S631F	.|ENSP00000386733:S690F	P|S	+|+	1|2	0|0	PLEKHG2|PLEKHG2	44605603|44605603	0.879000|0.879000	0.30193|0.30193	0.900000|0.900000	0.35374|0.35374	0.287000|0.287000	0.27160|0.27160	2.576000|2.576000	0.46033|0.46033	2.694000|2.694000	0.91930|0.91930	0.655000|0.655000	0.94253|0.94253	CCT|TCC	-	NULL		0.567	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	protein_coding	OTTHUMT00000326802.1	C	NM_022835		44605603	1	no_errors	NM_022835.2	genbank	human	validated	54_36p	missense	SNP	0.098	T	T	39913763	C	T	39913763	3	4	62	1	0	0	0	0	1	0	0	0	12069	855	30	2	2135	2	PLEKHG2	19	39913763	Missense_Mutation	SNP	C	TCGA-AB-2868-03B-01W-0728-08		39913763	19215220	13	681											
RERE	473	genome.wustl.edu	37	1	8526072	8526072	+	Silent	SNP	G	G	A			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr1:8526072G>A	ENST00000337907.3	-	12	1750	c.1116C>T	c.(1114-1116)agC>agT	p.S372S	RERE_ENST00000400908.2_Silent_p.S372S|RERE_ENST00000377464.1_Silent_p.S104S|RERE_ENST00000400907.2_Silent_p.S372S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	372	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CATCGTAACCGCTTTCATGCA	0.502																																						dbGAP											0			1											79	67	71					1																	8526072		2203	4300	6503	8448659	SO:0001819	synonymous_variant	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"GATA zinc finger domain containing"	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1116C>T	1.37:g.8526072G>A		75	8.54	7		28	51.72	30	8448659	134	40.68	96	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	HMMPfam_GATA,HMMSmart_SM00401,HMMPfam_ELM2,HMMSmart_SM00717,HMMPfam_BAH,HMMSmart_SM00439,HMMPfam_Atrophin-1,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.S372	ENST00000337907.3	37	c.1116	CCDS95.1	1																																																																																			-	NULL		0.502	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	protein_coding	OTTHUMT00000004916.1	G			8448659	-1	no_errors	NM_001042681.1	genbank	human	reviewed	54_36p	silent	SNP	0.989	A	A	8526072	G	A	8526072	2	1	63	1	0	0	0	0	0	0	0	1	13231	1078	38	1		1	RERE	1	8526072	Silent	SNP	G	TCGA-AB-2869-03A-01W-0761-09		8526072	240724549	1	682											
ABCA4	24	genome.wustl.edu	37	1	94490594	94490594	+	Missense_Mutation	SNP	C	C	T	rs201523394		TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr1:94490594C>T	ENST00000370225.3	-	31	4636	c.4550G>A	c.(4549-4551)cGc>cAc	p.R1517H		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1517			R -> S (in ARMD2; dbSNP:rs1800550).		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCCGTGCTGCGCTGTGTTCT	0.413																																						dbGAP											0			1						C	HIS/ARG	0,4406		0,0,2203	123	115	118		4550	2.2	1	1		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA4	NM_000350.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1517/2274	94490594	1,13005	2203	4300	6503	94263182	SO:0001583	missense	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"ATP binding cassette transporters / subfamily A"	34	protein-coding gene	gene with protein product	"Stargardt disease"	601691	"ATP-binding cassette transporter, retinal-specific"	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.4550G>A	1.37:g.94490594C>T	ENSP00000359245:p.Arg1517His	203	4.23	9					94263182	197	38.12	122	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	HMMPfam_ABC_tran,HMMSmart_AAA,PatternScan_ABC_TRANSPORTER_1,superfamily_SSF52540	p.R1517H	ENST00000370225.3	37	c.4550	CCDS747.1	1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.590293	0.28357	0.0	1.16E-4	ENSG00000198691	ENST00000546054;ENST00000370225	D	0.90732	-2.72	5.09	2.18	0.27775	.	0.694969	0.15078	N	0.281817	T	0.64148	0.2572	N	0.22421	0.69	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.54410	-0.8298	10	0.13108	T	0.6	.	2.8474	0.05547	0.1261:0.5427:0.1224:0.2088	.	1517	P78363	ABCA4_HUMAN	H	309;1517	ENSP00000359245:R1517H	ENSP00000359245:R1517H	R	-	2	0	ABCA4	94263182	0.982000	0.34865	0.993000	0.49108	0.696000	0.40369	0.263000	0.18478	0.309000	0.22966	-0.126000	0.14955	CGC	-	NULL		0.413	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	protein_coding	OTTHUMT00000029320.1	C	NM_000350		94263182	-1	no_errors	NM_000350.2	genbank	human	reviewed	54_36p	missense	SNP	0.994	T	T	94490594	C	T	94490594	3	4	63	1	0	0	0	0	1	0	0	0	34	768	27	1	2351	1	ABCA4	1	94490594	Missense_Mutation	SNP	C	TCGA-AB-2869-03A-01W-0761-09	85964522	94490594	154760027	2	683											
DNMT3A	1788	genome.wustl.edu	37	2	25468910	25468910	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr2:25468910G>A	ENST00000264709.3	-	12	1790	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.Q485*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.Q296*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.Q262*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	485	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCACTTCTGCCGCACCTCG	0.612			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											107	84	92					2																	25468910		2203	4300	6503	25322414	SO:0001587	stop_gained	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1453C>T	2.37:g.25468910G>A	ENSP00000264709:p.Gln485*	16	5.88	1		37	28.85	15	25322414	44	51.11	46	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.Q485*	ENST00000264709.3	37	c.1453	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.286650	0.98742	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.34	5.34	0.76211	.	0.062183	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-10.0876	16.5601	0.84551	0.0:0.0:1.0:0.0	.	.	.	.	X	296;485;485;262	.	ENSP00000264709:Q485X	Q	-	1	0	DNMT3A	25322414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.175000	0.58263	2.498000	0.84270	0.643000	0.83706	CAG	-	NULL		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25322414	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	25468910	G	A	25468910	4	1	63	1	0	0	0	0	0	1	0	0	4676	1328	46	2	1333	2	DNMT3A	2	25468910	Nonsense_Mutation	SNP	G	TCGA-AB-2869-03A-01W-0761-09		25468910	217730463	3	684											
PAX3	5077	genome.wustl.edu	37	2	223086090	223086090	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr2:223086090C>T	ENST00000350526.4	-	6	945	c.809G>A	c.(808-810)cGc>cAc	p.R270H	PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.R270H|PAX3_ENST00000336840.6_Missense_Mutation_p.R270H|PAX3_ENST00000344493.4_Missense_Mutation_p.R270H|PAX3_ENST00000409551.3_Missense_Mutation_p.R269H|PAX3_ENST00000392070.2_Missense_Mutation_p.R270H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	270			R -> C (in WS1 and WS3). {ECO:0000269|PubMed:8589691, ECO:0000269|PubMed:8845842, ECO:0000269|Ref.35}.		apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTTGCACGGCGGTTGCTAAA	0.423			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															dbGAP		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0			2											115	124	121					2																	223086090		2203	4300	6503	222794334	SO:0001583	missense	0				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"Paired boxes", "Homeoboxes / PRD class"	8617	protein-coding gene	gene with protein product		606597	"Waardenburg syndrome 1", "paired box gene 3 (Waardenburg syndrome 1)"	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.809G>A	2.37:g.223086090C>T	ENSP00000343052:p.Arg270His	57	5	3					222794334	115	34.83	62	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_PAX,HMMSmart_SM00351,PatternScan_PAIRED_1,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1	p.R270H	ENST00000350526.4	37	c.809	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883184	0.91740	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42;-4.42	5.92	5.92	0.95590	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99149	0.9706	H	0.97682	4.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.998;1.0;0.998	D;P;P;D;P	0.72338	0.977;0.903;0.888;0.958;0.844	D	0.98920	1.0783	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	270;269;270;270;270	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	H	270;270;270;270;270;269	ENSP00000375921:R270H;ENSP00000342092:R270H;ENSP00000343052:R270H;ENSP00000375922:R270H;ENSP00000338767:R270H;ENSP00000386750:R269H	ENSP00000338767:R270H	R	-	2	0	PAX3	222794334	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	2.813000	0.96785	0.561000	0.74099	CGC	-	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1		0.423	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	protein_coding	OTTHUMT00000328670.1	C			222794334	-1	no_errors	NM_181459.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	223086090	C	T	223086090	3	4	63	1	0	0	0	0	1	0	0	0	11480	768	27	1	756	1	PAX3	2	223086090	Missense_Mutation	SNP	C	TCGA-AB-2869-03A-01W-0761-09	197617180	223086090	20113283	4	685											
ENPEP	2028	genome.wustl.edu	37	4	111397708	111397708	+	Silent	SNP	C	C	T			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr4:111397708C>T	ENST00000265162.5	+	1	480	c.138C>T	c.(136-138)agC>agT	p.S46S		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	46					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GTGACTCCAGCGGGGACGGCG	0.632																																						dbGAP											0			4											161	154	157					4																	111397708		2203	4300	6503	111617157	SO:0001819	synonymous_variant	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"CD molecules"	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.138C>T	4.37:g.111397708C>T		57	14.93	10					111617157	117	47.32	106	Q504U2	Silent	SNP	HMMPfam_Peptidase_M1,superfamily_Metalloproteases ("zincins") catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain	p.S46	ENST00000265162.5	37	c.138	CCDS3691.1	4																																																																																			-	NULL		0.632	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	protein_coding	OTTHUMT00000255747.2	C			111617157	1	no_errors	NM_001977.3	genbank	human	validated	54_36p	silent	SNP	0.000	T	T	111397708	C	T	111397708	2	4	63	1	0	0	0	0	0	0	0	1	5128	767	27	1		1	ENPEP	4	111397708	Silent	SNP	C	TCGA-AB-2869-03A-01W-0761-09		111397708	79756568	5	686											
GPM6A	2823	genome.wustl.edu	37	4	176573082	176573082	+	Silent	SNP	G	G	A			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr4:176573082G>A	ENST00000280187.7	-	5	489	c.444C>T	c.(442-444)acC>acT	p.T148T	GPM6A_ENST00000515090.1_Silent_p.T141T|GPM6A_ENST00000506894.1_Silent_p.T137T|GPM6A_ENST00000393658.2_Silent_p.T148T	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	148					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTGGCAGTGAGGTGAAAGCCG	0.448																																						dbGAP											0			4											107	94	98					4																	176573082		2203	4300	6503	176810076	SO:0001819	synonymous_variant	0				CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.444C>T	4.37:g.176573082G>A		14	0	0					176810076	56	46.23	49	B7Z642|E9PHI5|Q92602	Silent	SNP	HMMPfam_Myelin_PLP,HMMSmart_SM00002,PatternScan_MYELIN_PLP_1,PatternScan_MYELIN_PLP_2	p.T148	ENST00000280187.7	37	c.444	CCDS3824.1	4																																																																																			-	HMMPfam_Myelin_PLP		0.448	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPM6A	protein_coding	OTTHUMT00000362163.1	G			176810076	-1	no_errors	NM_005277.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	176573082	G	A	176573082	2	1	63	1	0	0	0	0	0	0	0	1	6615	987	35	2		2	GPM6A	4	176573082	Silent	SNP	G	TCGA-AB-2869-03A-01W-0761-09	65175374	176573082	14581194	6	687											
ATP10B	23120	genome.wustl.edu	37	5	160025800	160025800	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr5:160025800A>G	ENST00000327245.5	-	22	4387	c.3541T>C	c.(3541-3543)Tac>Cac	p.Y1181H		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1181					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCACTCTTGTATAGCTCAGGC	0.498																																						dbGAP											0			5											268	254	259					5																	160025800		1938	4131	6069	159958378	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3541T>C	5.37:g.160025800A>G	ENSP00000313600:p.Tyr1181His	57	5	3					159958378	181	38.89	119	Q9H725	Missense_Mutation	SNP	HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.Y1181H	ENST00000327245.5	37	c.3541	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732887	0.89482	.	.	ENSG00000118322	ENST00000327245	T	0.75938	-0.98	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.90106	0.6909	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92933	0.6365	9	.	.	.	.	14.8727	0.70471	1.0:0.0:0.0:0.0	.	1181	O94823	AT10B_HUMAN	H	1181	ENSP00000313600:Y1181H	.	Y	-	1	0	ATP10B	159958378	1.000000	0.71417	0.960000	0.40013	0.983000	0.72400	9.228000	0.95250	2.107000	0.64212	0.533000	0.62120	TAC	-	NULL		0.498	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	protein_coding	OTTHUMT00000374127.1	A	NM_025153		159958378	-1	no_errors	NM_025153.2	genbank	human	validated	54_36p	missense	SNP	0.993	G	G	160025800	A	G	160025800	3	3	63	1	0	0	0	0	1	0	0	0	1117	449	16	3	864	3	ATP10B	5	160025800	Missense_Mutation	SNP	A	TCGA-AB-2869-03A-01W-0761-09		160025800	20889460	7	688											
NPM1	4869	genome.wustl.edu	37	5	170837544	170837545	+	Frame_Shift_Ins	INS	-	-	CTGC			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	-	-	-	CTGC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr5:170837544_170837545insCTGC	ENST00000296930.5	+	11	1161_1162	c.860_861insCTGC	c.(859-864)ctctggfs	p.W288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.W288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.W259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(11)|p.W288fs*>9(7)|p.L287fs*11(2)|p.L287F(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATTCAAGATCTCTGGCAGTGGA	0.317			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	21	Insertion - Frameshift(20)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(21)	5																																								170770150	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837544_170837545insCTGC	ENSP00000296930:p.Trp288fs								170770149				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.860_861	CCDS4376.1	5																																																																																			-	NULL		0.317	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770150	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CTGC	CTGC	170837545	-	CTGC	170837544	7	5	63	1	0	1	1	0	0	0	0	0	10587	1551	54	0	915	0	NPM1	5	170837544	Frame_Shift_Ins	INS	-	TCGA-AB-2869-03A-01W-0761-09	10811744	170837544	10077716	8	689											
C5	727	genome.wustl.edu	37	9	123732523	123732523	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr9:123732523T>G	ENST00000223642.1	-	32	4116	c.4087A>C	c.(4087-4089)Act>Cct	p.T1363P		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1363					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TGAACTACAGTTGTTACCTAC	0.403																																						dbGAP											0			9											109	100	103					9																	123732523		2203	4300	6503	122772344	SO:0001583	missense	0			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"Complement system", "Endogenous ligands"	1331	protein-coding gene	gene with protein product	"prepro-C5", "C5a anaphylatoxin"	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.4087A>C	9.37:g.123732523T>G	ENSP00000223642:p.Thr1363Pro	113	7.38	9		3	40	2	122772344	288	41.45	206	Q14CJ0|Q27I61	Missense_Mutation	SNP	HMMPfam_ANATO,HMMSmart_ANATO,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terp_cyc_toroid,HMMPfam_A2M_recep,superfamily_AM_receptor_bind,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylatoxin,HMMPfam_NTR,HMMSmart_C345C,PatternScan_ALPHA_2_MACROGLOBULIN	p.T1363P	ENST00000223642.1	37	c.4087	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557552	0.65425	.	.	ENSG00000106804	ENST00000223642	T	0.36157	1.27	5.42	5.42	0.78866	.	1.138310	0.06440	N	0.725847	T	0.59432	0.2193	M	0.69358	2.11	0.39109	D	0.961445	D	0.76494	0.999	D	0.63597	0.916	T	0.36529	-0.9744	10	0.46703	T	0.11	.	12.8299	0.57740	0.0:0.0:0.0:1.0	.	1363	P01031	CO5_HUMAN	P	1363	ENSP00000223642:T1363P	ENSP00000223642:T1363P	T	-	1	0	C5	122772344	1.000000	0.71417	0.302000	0.25058	0.897000	0.52465	4.667000	0.61561	2.055000	0.61198	0.533000	0.62120	ACT	-	NULL		0.403	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	protein_coding	OTTHUMT00000053844.1	T	NM_001735		122772344	-1	no_errors	NM_001735.2	genbank	human	reviewed	54_36p	missense	SNP	0.204	G	G	123732523	T	G	123732523	3	3	63	1	0	0	0	0	1	0	0	0	2280	1725	60	5	983	5	C5	9	123732523	Missense_Mutation	SNP	T	TCGA-AB-2869-03A-01W-0761-09		123732523	17480908	9	690											
CDH23	64072	genome.wustl.edu	37	10	73461781	73461781	+	Silent	SNP	G	G	T			TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr10:73461781G>T	ENST00000224721.6	+	22	2420	c.2415G>T	c.(2413-2415)gtG>gtT	p.V805V	CDH23_ENST00000299366.7_Silent_p.V845V	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	800	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGGGCAGGTGGTGGCTGTTG	0.637																																						dbGAP											0			10											52	63	60					10																	73461781		2085	4197	6282	73131787	SO:0001819	synonymous_variant	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"Cadherins / Cadherin-related"	13733	protein-coding gene	gene with protein product	"cadherin-related family member 23"	605516	"cadherin related 23", "cadherin-like 23"	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.2415G>T	10.37:g.73461781G>T		13	7.14	1		2	33.33	1	73131787	32	26.67	12	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like	p.V800	ENST00000224721.6	37	c.2400		10																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.637	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	protein_coding	OTTHUMT00000051227.4	G	NM_052836		73131787	1	no_errors	NM_022124.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	73461781	G	T	73461781	2	4	63	1	0	0	0	0	0	0	0	1	3108	1335	47	4		4	CDH23	10	73461781	Silent	SNP	G	TCGA-AB-2869-03A-01W-0761-09		73461781	62072966	10	691											
FLT3	2322	genome.wustl.edu	37	13	28608253	28608254	+	In_Frame_Ins	INS	-	-	GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	rs373985398		TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	-	-	-	GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr13:28608253_28608254insGATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	ENST00000241453.7	-	14	1883_1884	c.1802_1803insTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGGAGAATATGAATATGATC	c.(1801-1803)ctc>ctTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGGAGAATATGAATATGATCc	p.601_602insQMGVSKRKFRVWRI*I*S	FLT3_ENST00000380982.4_In_Frame_Ins_p.601_602insQMGVSKRKFRVWRI*I*S|FLT3_ENST00000537084.1_In_Frame_Ins_p.601_602insQMGVSKRKFRVWRI*I*S	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	601					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L601_K602ins27(4)|p.D600_L601>HVDFREYEYD(2)|p.L601_K602ins24(1)|p.L601_K602ins21(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.L601_K602insREYEYDL(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACTCCCATTTGAGATCATATTC	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	11	Insertion - In frame(7)|Complex - insertion inframe(4)	haematopoietic_and_lymphoid_tissue(11)	13																																								27506254	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1802_1803insTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTGGAGAATATGAATATGATC	13.37:g.28608253_28608254insGATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	ENSP00000241453:p.Leu601_Lys602insGlnMetGlyValSerLysArgLysPheArgValTrpArgIle*Ile*Ser								27506253				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.602in_frame_insQMGVSKRKFRVWRI*I*S	ENST00000241453.7	37	c.1803_1802	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506254	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.998:1.000	GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	28608254	-	GATCATATTCATATTCTCCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGA	28608253	7	5	63	1	0	1	1	0	0	0	0	0	5942	1277	45	0	1222	0	FLT3	13	28608253	In_Frame_Ins	INS	-	TCGA-AB-2869-03A-01W-0761-09		28608253	86561625	11	692											
SEMA6D	80031	genome.wustl.edu	37	15	48056059	48056059	+	Missense_Mutation	SNP	C	C	T	rs543020539		TCGA-AB-2869-03A-01W-0761-09	TCGA-AB-2869-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b123374d-2ce1-4a34-8a09-8dfbb4f6629f	c6143181-0581-4a20-9cae-d094d36312ae	g.chr15:48056059C>T	ENST00000316364.5	+	10	1199	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	SEMA6D_ENST00000355997.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000537942.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R254C|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R254C|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R254C|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R254C|SEMA6D_ENST00000558816.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R254C|SEMA6D_ENST00000389425.3_Missense_Mutation_p.R254C|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R254C	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	254	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTGTATTCCCGCGTGGCCCG	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		19135	0		0	False		,,,				2504	0					dbGAP											0			15											132	131	131					15																	48056059		2198	4297	6495	45843351	SO:0001583	missense	0			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"Semaphorins"	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.760C>T	15.37:g.48056059C>T	ENSP00000324857:p.Arg254Cys	213	3.62	8					45843351	296	37.03	177	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat	p.R254C	ENST00000316364.5	37	c.760	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559209	0.86335	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.87	5.87	0.94306	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	H	0.96916	3.905	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.81219	-0.1032	10	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	254;254;254;254;254	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	C	254	ENSP00000442040:R254C;ENSP00000446152:R254C;ENSP00000324857:R254C;ENSP00000374084:R254C;ENSP00000374083:R254C;ENSP00000346786:R254C;ENSP00000350770:R254C;ENSP00000374079:R254C;ENSP00000348276:R254C;ENSP00000374076:R254C	ENSP00000324857:R254C	R	+	1	0	SEMA6D	45843351	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.809000	0.55606	2.785000	0.95823	0.655000	0.94253	CGC	-	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain		0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	protein_coding	OTTHUMT00000416868.1	C	NM_024966		45843351	1	no_errors	NM_153618.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	48056059	C	T	48056059	3	4	63	1	0	0	0	0	1	0	0	0	14042	652	23	1	794	1	SEMA6D	15	48056059	Missense_Mutation	SNP	C	TCGA-AB-2869-03A-01W-0761-09		48056059	54475333	12	693											
ATG4C	84938	genome.wustl.edu	37	1	63300494	63300494	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr1:63300494G>T	ENST00000317868.4	+	9	1267	c.1060G>T	c.(1060-1062)Gat>Tat	p.D354Y	ATG4C_ENST00000371120.3_Missense_Mutation_p.D354Y	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	354					autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)		ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						ATCTTTTGTAGATGTCAGCAT	0.333																																						dbGAP											0			1											170	146	154					1																	63300494		2203	4300	6503	63073082	SO:0001583	missense	0			AK027773	CCDS623.1	1p31.3	2014-02-12	2012-06-06	2005-09-11	ENSG00000125703	ENSG00000125703			16040	protein-coding gene	gene with protein product		611339	"AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)"	AUTL1, APG4C		12446702	Standard	NM_032852		Approved	FLJ14867, AUTL3	uc001dau.3	Q96DT6	OTTHUMG00000009142	ENST00000317868.4:c.1060G>T	1.37:g.63300494G>T	ENSP00000322159:p.Asp354Tyr	86	7.53	7		21	30	9	63073082	308	28.67	125	A6NLR8|D3DQ58|Q96K04	Missense_Mutation	SNP	HMMPfam_Peptidase_C54	p.D354Y	ENST00000317868.4	37	c.1060	CCDS623.1	1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866644	0.72065	.	.	ENSG00000125703	ENST00000317868;ENST00000371120;ENST00000540025;ENST00000414558	T;T	0.46063	0.88;0.88	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.68403	0.2997	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75593	-0.3264	10	0.87932	D	0	-20.1388	19.1737	0.93594	0.0:0.0:1.0:0.0	.	354	Q96DT6	ATG4C_HUMAN	Y	354;354;354;98	ENSP00000322159:D354Y;ENSP00000360161:D354Y	ENSP00000322159:D354Y	D	+	1	0	ATG4C	63073082	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.577000	0.82486	2.622000	0.88805	0.585000	0.79938	GAT	-	HMMPfam_Peptidase_C54		0.333	ATG4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4C	protein_coding	OTTHUMT00000025332.2	G	NM_032852		63073082	1	no_errors	NM_032852.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	63300494	G	T	63300494	3	4	64	1	0	0	0	0	1	0	0	0	1098	942	33	4	1090	4	ATG4C	1	63300494	Missense_Mutation	SNP	G	TCGA-AB-2870-03A-01W-0732-08		63300494	185950127	1	694											
NRAS	4893	genome.wustl.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	610	Substitution - Missense(609)|Complex(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	1											180	156	164					1																	115256530		2203	4300	6503	115058053	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	73	3.95	3		96	14.29	16	115058053	245	18.21	55	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q61K	ENST00000369535.4	37	c.181	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	G	NM_002524		115058053	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115256530	G	T	115256530	3	4	64	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-AB-2870-03A-01W-0732-08	51956036	115256530	133994091	2	695											
SEMA4A	64218	genome.wustl.edu	37	1	156146280	156146280	+	Missense_Mutation	SNP	A	A	G	rs376576562		TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr1:156146280A>G	ENST00000368285.3	+	15	2045	c.1778A>G	c.(1777-1779)cAt>cGt	p.H593R	SEMA4A_ENST00000368282.1_Missense_Mutation_p.H593R|SEMA4A_ENST00000368284.1_Missense_Mutation_p.H461R|SEMA4A_ENST00000355014.2_Missense_Mutation_p.H593R|SEMA4A_ENST00000368286.2_Missense_Mutation_p.H461R	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	593	Ig-like C2-type.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TATTGGAGTCATGGCCCAGCA	0.552																																						dbGAP											0			1						A	ARG/HIS,ARG/HIS,ARG/HIS,ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	96	93	94		1778,1778,1382,1778	3.9	0.8	1		94	0,8600		0,0,4300	no	missense,missense,missense,missense	SEMA4A	NM_001193300.1,NM_001193301.1,NM_001193302.1,NM_022367.3	29,29,29,29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign,benign,benign,benign	593/762,593/762,461/630,593/762	156146280	1,13005	2203	4300	6503	154412904	SO:0001583	missense	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.1778A>G	1.37:g.156146280A>G	ENSP00000357268:p.His593Arg	229	11.92	31		58	42.16	43	154412904	348	47.08	314	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Missense_Mutation	SNP	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold	p.H593R	ENST00000368285.3	37	c.1778	CCDS1132.1	1	.	.	.	.	.	.	.	.	.	.	A	7.226	0.598282	0.13939	2.27E-4	0.0	ENSG00000196189	ENST00000355014;ENST00000368285;ENST00000368284;ENST00000368283;ENST00000544376;ENST00000368286;ENST00000368282	T;T;T;T;T	0.16597	2.33;2.33;2.53;2.53;2.33	5.01	3.87	0.44632	.	0.355532	0.32488	N	0.006030	T	0.04497	0.0123	L	0.42245	1.32	0.30038	N	0.812859	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.38607	-0.9653	10	0.21014	T	0.42	.	7.5733	0.27920	0.9012:0.0:0.0988:0.0	.	461;593	Q5TCJ6;Q9H3S1	.;SEM4A_HUMAN	R	593;593;461;555;555;461;593	ENSP00000347117:H593R;ENSP00000357268:H593R;ENSP00000357267:H461R;ENSP00000357269:H461R;ENSP00000357265:H593R	ENSP00000347117:H593R	H	+	2	0	SEMA4A	154412904	0.005000	0.15991	0.752000	0.31206	0.547000	0.35210	0.163000	0.16520	0.758000	0.33059	0.260000	0.18958	CAT	-	NULL		0.552	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	protein_coding	OTTHUMT00000039484.2	A	NM_022367		154412904	1	no_errors	NM_022367.2	genbank	human	provisional	54_36p	missense	SNP	0.437	G	G	156146280	A	G	156146280	3	3	64	1	0	0	0	0	1	0	0	0	14031	217	8	3	1832	3	SEMA4A	1	156146280	Missense_Mutation	SNP	A	TCGA-AB-2870-03A-01W-0732-08	40889750	156146280	93104341	3	696											
SPEG	10290	genome.wustl.edu	37	2	220343888	220343888	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr2:220343888C>T	ENST00000312358.7	+	23	5182	c.5050C>T	c.(5050-5052)Cga>Tga	p.R1684*	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1684	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCTGGAGCGAATCGCCAG	0.637																																						dbGAP											0			2											62	72	68					2																	220343888		2091	4220	6311	220052132	SO:0001587	stop_gained	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5050C>T	2.37:g.220343888C>T	ENSP00000311684:p.Arg1684*	79	12.22	11					220052132	88	42.31	66	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Nonsense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin	p.R1684*	ENST00000312358.7	37	c.5050	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	45	11.450810	0.99562	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	.	.	.	4.42	-1.39	0.08997	.	0.000000	0.33959	N	0.004382	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6932	0.77473	0.7705:0.2295:0.0:0.0	.	.	.	.	X	1684	.	ENSP00000265327:R1684X	R	+	1	2	SPEG	220052132	0.990000	0.36364	0.985000	0.45067	0.976000	0.68499	1.819000	0.39022	-0.144000	0.11314	-0.314000	0.08810	CGA	-	HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.637	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	C	NM_005876		220052132	1	no_errors	NM_005876.4	genbank	human	validated	54_36p	nonsense	SNP	0.643	T	T	220343888	C	T	220343888	4	4	64	1	0	0	0	0	0	1	0	0	15035	760	27	1	5152	1	SPEG	2	220343888	Nonsense_Mutation	SNP	C	TCGA-AB-2870-03A-01W-0732-08		220343888	22855485	4	697											
COL12A1	1303	genome.wustl.edu	37	6	75902048	75902048	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr6:75902048G>A	ENST00000322507.8	-	4	523	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	COL12A1_ENST00000416123.2_Missense_Mutation_p.L72F|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.L72F	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	72	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTAGCTGAAAGGGTAAATTCT	0.328																																						dbGAP											0			6											95	82	86					6																	75902048		1804	4073	5877	75958768	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.214C>T	6.37:g.75902048G>A	ENSP00000325146:p.Leu72Phe	29	6.45	2					75958768	153	40	104	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like	p.L72F	ENST00000322507.8	37	c.214	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.932830	0.92458	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.59502	0.26;0.26;0.26	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.75228	0.3821	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.76296	-0.3011	10	0.72032	D	0.01	.	20.3011	0.98612	0.0:0.0:1.0:0.0	.	72	Q99715	COCA1_HUMAN	F	72	ENSP00000325146:L72F;ENSP00000412864:L72F;ENSP00000421216:L72F	ENSP00000325146:L72F	L	-	1	0	COL12A1	75958768	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.967000	0.70403	2.804000	0.96469	0.650000	0.86243	CTT	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.328	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75958768	-1	no_errors	NM_004370.5	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	75902048	G	A	75902048	3	1	64	1	0	0	0	0	1	0	0	0	3669	1000	35	2	9229	2	COL12A1	6	75902048	Missense_Mutation	SNP	G	TCGA-AB-2870-03A-01W-0732-08		75902048	95213019	5	698											
OR10W1	81341	genome.wustl.edu	37	11	58035232	58035232	+	Silent	SNP	G	G	A			TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr11:58035232G>A	ENST00000395079.2	-	1	500	c.99C>T	c.(97-99)aaC>aaT	p.N33N		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CAATGAGAATGTTCCCAGTGA	0.468																																						dbGAP											0			11											95	79	85					11																	58035232		2201	4295	6496	57791808	SO:0001819	synonymous_variant	0			AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"GPCR / Class A : Olfactory receptors"	15139	protein-coding gene	gene with protein product			"olfactory receptor, family 10, subfamily W, member 1 pseudogene"	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.99C>T	11.37:g.58035232G>A		90	12.62	13					57791808	262	44.97	219	A2RUD2|A8MTE1|Q6UXQ2	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.N33	ENST00000395079.2	37	c.99	CCDS7968.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.468	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10W1	protein_coding	OTTHUMT00000394704.1	G	NM_207374		57791808	-1	no_errors	NM_207374.2	genbank	human	provisional	54_36p	silent	SNP	0.032	A	A	58035232	G	A	58035232	2	1	64	1	0	0	0	0	0	0	0	1	10921	1368	48	2		2	OR10W1	11	58035232	Silent	SNP	G	TCGA-AB-2870-03A-01W-0732-08		58035232	76971284	6	699											
POLR3B	55703	genome.wustl.edu	37	12	106770184	106770184	+	Missense_Mutation	SNP	C	C	T	rs145075371		TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr12:106770184C>T	ENST00000228347.4	+	7	674	c.452C>T	c.(451-453)aCg>aTg	p.T151M	POLR3B_ENST00000539066.1_Missense_Mutation_p.T93M	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	151					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACAGGAAAAACGCCAGCAGAA	0.368																																						dbGAP											0			12						C	MET/THR,MET/THR	0,4406		0,0,2203	145	128	134		278,452	5.5	1	12	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	POLR3B	NM_001160708.1,NM_018082.5	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	93/1076,151/1134	106770184	1,13005	2203	4300	6503	105294314	SO:0001583	missense	0			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"RNA polymerase subunits"	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.452C>T	12.37:g.106770184C>T	ENSP00000228347:p.Thr151Met	96	5.88	6		3	70	7	105294314	188	40.31	131	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	HMMPfam_RNA_pol_Rpb2_6,PatternScan_RNA_POL_BETA,HMMPfam_RNA_pol_Rpb2_7,HMMPfam_RNA_pol_Rpb2_2,HMMPfam_RNA_pol_Rpb2_1,HMMPfam_RNA_pol_Rpb2_3,HMMPfam_RNA_pol_Rpb2_4,HMMPfam_RNA_pol_Rpb2_5,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase	p.T151M	ENST00000228347.4	37	c.452	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	C	19.47	3.833132	0.71258	0.0	1.16E-4	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066	T;T	0.77877	-1.13;-1.13	5.47	5.47	0.80525	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.78929	0.4361	M	0.69523	2.12	0.80722	D	1	P	0.39480	0.675	B	0.37239	0.244	T	0.82090	-0.0629	10	0.87932	D	0	-9.5472	19.6948	0.96021	0.0:1.0:0.0:0.0	.	151	Q9NW08	RPC2_HUMAN	M	151;151;93	ENSP00000228347:T151M;ENSP00000445721:T93M	ENSP00000228347:T151M	T	+	2	0	POLR3B	105294314	1.000000	0.71417	0.971000	0.41717	0.965000	0.64279	7.341000	0.79300	2.723000	0.93209	0.655000	0.94253	ACG	-	HMMPfam_RNA_pol_Rpb2_1,superfamily_beta and beta-prime subunits of DNA dependent RNA-polymerase		0.368	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	protein_coding	OTTHUMT00000407166.1	C	NM_018082		105294314	1	no_errors	NM_018082.4	genbank	human	provisional	54_36p	missense	SNP	0.998	T	T	106770184	C	T	106770184	3	4	64	1	0	0	0	0	1	0	0	0	12229	536	19	1	478	1	POLR3B	12	106770184	Missense_Mutation	SNP	C	TCGA-AB-2870-03A-01W-0732-08		106770184	27081711	7	700											
FLT3	2322	genome.wustl.edu	37	13	28608258	28608275	+	In_Frame_Del	DEL	CATATTCATATTCTCTGA	CATATTCATATTCTCTGA	GGGGTGGGGGGG			TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	CATATTCATATTCTCTGA	CATATTCATATTCTCTGA	CATATTCATATTCTCTGA	GGGGTGGGGGGG	CATATTCATATTCTCTGA	CATATTCATATTCTCTGA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr13:28608258_28608275delCATATTCATATTCTCTGA	ENST00000241453.7	-	14	1862_1879	c.1781_1798delTCAGAGAATATGAATATG	c.(1780-1800)ttcagagaatatgaatatgat>tat	p.594_600FREYEYD>Y	FLT3_ENST00000380982.4_In_Frame_Del_p.594_600FREYEYD>Y|FLT3_ENST00000537084.1_In_Frame_Del_p.594_600FREYEYD>Y	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	594	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.E596_Y597ins12(3)|p.F594_R595ins12(2)|p.Y599_D600insPAPQIMSTSTLISENMNIA(2)|p.Y599_D600ins15(2)|p.Y599F(2)|p.F594_R595insSDNEYFYVDF(2)|p.Y597_E598ins26(2)|p.R595_E596insDFYVDFR(1)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.595_596>DNEYFYVDFR(1)|p.E598_Y599insFYVDFREYE(1)|p.593_594>WGYFYVD(1)|p.E598>DMISPEDMK(1)|p.D600_L601insVDFREYEY(1)|p.F590_F594>L(1)|p.Y599_D600>NEYFYVDFREYEY(1)|p.Y599_D600insFDFREYE(1)|p.Y597_E598ins18(1)|p.597_598>DYVDFREY(1)|p.R595_E596ins13(1)|p.E598_Y599insWDFREYE(1)|p.E598_Y599ins14(1)|p.Y597_E598insEYDLKWEFG(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTTGAGATCATATTCATATTCTCTGAAATCAACGTA	0.367			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	32	Insertion - In frame(25)|Complex - insertion inframe(4)|Substitution - Missense(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(32)	13																																								27506275	SO:0001651	inframe_deletion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1781_1798delTCAGAGAATATGAATATG	13.37:g.28608258_28608275delCATATTCATATTCTCTGA	ENSP00000241453:p.Phe594_Asp600delinsTyr								27506258				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	DEL	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.595in_frame_insPPTP	ENST00000241453.7	37	c.1798_1781	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.367	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	CATATTCATATTCTCTGA			27506275	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000:1.000:0.999:0.789:0.821:0.816:0.676:0.765:0.789:0.794:0.991:0.997:0.996:0.999:1.000:1.000:1.000	GGGGTGGGGGGG	GGGGTGGGGGGG	28608275	CATATTCATATTCTCTGA	GGGGTGGGGGGG	28608258	7	5	64	1	0	1	0	1	0	0	0	0	5942	826	29	0	1227	0	FLT3	13	28608258	In_Frame_Del	DEL	CATATTCATATTCTCTGA	TCGA-AB-2870-03A-01W-0732-08		28608258	86561620	8	701											
HCN4	10021	genome.wustl.edu	37	15	73624519	73624519	+	Silent	SNP	G	G	A			TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr15:73624519G>A	ENST00000261917.3	-	3	2317	c.1324C>T	c.(1324-1326)Cta>Tta	p.L442L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	442					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		AAGTCCTGTAGCATGGGTACC	0.632																																						dbGAP											0			15											105	85	92					15																	73624519		2198	4297	6495	71411572	SO:0001819	synonymous_variant	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"Voltage-gated ion channels / Cyclic nucleotide-regulated channels"	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1324C>T	15.37:g.73624519G>A		28	3.45	1					71411572	77	45.07	64	Q9UMQ7	Silent	SNP	HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMPfam_Ion_trans,HMMPfam_Ion_trans_N,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF81324	p.L442	ENST00000261917.3	37	c.1324	CCDS10248.1	15																																																																																			-	HMMPfam_Ion_trans,superfamily_SSF81324		0.632	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	protein_coding	OTTHUMT00000268900.2	G	NM_005477		71411572	-1	no_errors	NM_005477.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	73624519	G	A	73624519	2	1	64	1	0	0	0	0	0	0	0	1	6999	962	34	2		2	HCN4	15	73624519	Silent	SNP	G	TCGA-AB-2870-03A-01W-0732-08		73624519	28906873	9	702											
NAGPA	51172	genome.wustl.edu	37	16	5078916	5078916	+	Silent	SNP	G	G	C			TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr16:5078916G>C	ENST00000312251.3	-	5	904	c.885C>G	c.(883-885)ctC>ctG	p.L295L	NAGPA_ENST00000381955.3_Silent_p.L295L|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'Flank	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	295					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	AGGTCCCGTTGAGCACAAAGG	0.592																																						dbGAP											0			16											151	139	143					16																	5078916		2197	4300	6497	5018917	SO:0001819	synonymous_variant	0			AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.885C>G	16.37:g.5078916G>C		59	9.09	6		21	56.25	27	5018917	75	51.25	82	B2RAS1|Q96EJ8	Silent	SNP	HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2	p.L295	ENST00000312251.3	37	c.885	CCDS10527.1	16																																																																																			-	NULL		0.592	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGPA	protein_coding	OTTHUMT00000207003.1	G	NM_016256		5018917	-1	no_errors	NM_016256.2	genbank	human	reviewed	54_36p	silent	SNP	0.994	C	C	5078916	G	C	5078916	2	2	64	1	0	0	0	0	0	0	0	1	10144	1277	45	4		4	NAGPA	16	5078916	Silent	SNP	G	TCGA-AB-2870-03A-01W-0732-08		5078916	85275837	10	703											
COL5A3	50509	genome.wustl.edu	37	19	10112274	10112274	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2870-03A-01W-0732-08	TCGA-AB-2870-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ad67fd3-5750-42ab-b4e2-55133613a3e4	ab21f718-4b02-4b59-9590-a0de74285788	g.chr19:10112274C>T	ENST00000264828.3	-	8	1121	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	346	Nonhelical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GAATCATCTCCTTCTTCATCC	0.542											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			19											106	101	103					19																	10112274		2203	4300	6503	9973274	SO:0001583	missense	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1036G>A	19.37:g.10112274C>T	ENSP00000264828:p.Gly346Arg	117	5.65	7	662				9973274	205	40	138	Q9NZQ6	Missense_Mutation	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2	p.G346R	ENST00000264828.3	37	c.1036	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	8.463	0.855791	0.17106	.	.	ENSG00000080573	ENST00000264828	D	0.89123	-2.47	4.55	-0.545	0.11843	.	2.438730	0.01925	U	0.040796	T	0.76765	0.4033	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.65307	-0.6200	10	0.44086	T	0.13	.	3.4471	0.07484	0.3627:0.431:0.0:0.2064	.	346	P25940	CO5A3_HUMAN	R	346	ENSP00000264828:G346R	ENSP00000264828:G346R	G	-	1	0	COL5A3	9973274	0.001000	0.12720	0.360000	0.25837	0.497000	0.33675	-0.368000	0.07543	0.164000	0.19529	0.462000	0.41574	GGA	-	NULL		0.542	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719		9973274	-1	no_errors	NM_015719.3	genbank	human	reviewed	54_36p	missense	SNP	0.014	T	T	10112274	C	T	10112274	3	4	64	1	0	0	0	0	1	0	0	0	3698	690	24	2	4441	2	COL5A3	19	10112274	Missense_Mutation	SNP	C	TCGA-AB-2870-03A-01W-0732-08		10112274	49016709	11	704											
THRAP3	9967	genome.wustl.edu	37	1	36767160	36767160	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr1:36767160C>T	ENST00000354618.5	+	11	2733	c.2509C>T	c.(2509-2511)Cga>Tga	p.R837*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.R837*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	837	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATAGCAGTTTCGAGCCAGAGG	0.453			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	dbGAP		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0			1											61	64	63					1																	36767160		2203	4300	6503	36539747	SO:0001587	stop_gained	0			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.2509C>T	1.37:g.36767160C>T	ENSP00000346634:p.Arg837*	135	0	0		35	7.89	3	36539747	128	16.46	26	D3DPS5|Q5VTK6	Nonsense_Mutation	SNP	NULL	p.R837*	ENST00000354618.5	37	c.2509	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.683530	0.98431	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.745	14.4103	0.67111	0.1566:0.8434:0.0:0.0	.	.	.	.	X	837	.	ENSP00000346634:R837X	R	+	1	2	THRAP3	36539747	0.955000	0.32602	1.000000	0.80357	0.592000	0.36648	0.847000	0.27696	2.720000	0.93068	0.650000	0.86243	CGA	-	NULL		0.453	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36539747	1	no_errors	NM_005119.3	genbank	human	validated	54_36p	nonsense	SNP	0.969	T	T	36767160	C	T	36767160	4	4	65	1	0	0	0	0	0	1	0	0	15871	876	31	1	2543	1	THRAP3	1	36767160	Nonsense_Mutation	SNP	C	TCGA-AB-2871-03A-01W-0732-08		36767160	212483461	1	705											
NEB	4703	genome.wustl.edu	37	2	152419193	152419193	+	Missense_Mutation	SNP	G	G	T	rs369143071		TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr2:152419193G>T	ENST00000172853.10	-	92	13867	c.13720C>A	c.(13720-13722)Cag>Aag	p.Q4574K	NEB_ENST00000409198.1_Missense_Mutation_p.Q4574K|NEB_ENST00000397345.3_Missense_Mutation_p.Q6275K|NEB_ENST00000603639.1_Missense_Mutation_p.Q6275K|NEB_ENST00000604864.1_Missense_Mutation_p.Q6275K|NEB_ENST00000427231.2_Missense_Mutation_p.Q6275K			P20929	NEBU_HUMAN	nebulin	4574					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACGTCCACTGGTGGAAATAG	0.478																																						dbGAP											0			2											137	128	131					2																	152419193		2009	4160	6169	152127439	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"nemaline myopathy type 2"	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.13720C>A	2.37:g.152419193G>T	ENSP00000172853:p.Gln4574Lys	129	0	0					152127439	208	25.52	73	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	HMMPfam_Nebulin,HMMSmart_SM00227,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain	p.Q4574K	ENST00000172853.10	37	c.13720		2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.024039	0.75390	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.74	4.87	0.63330	.	0.108055	0.64402	D	0.000004	T	0.44561	0.1299	L	0.50333	1.59	0.80722	D	1	P;P	0.44877	0.458;0.845	B;D	0.63033	0.23;0.91	T	0.21793	-1.0235	10	0.23891	T	0.37	.	10.7053	0.45952	0.069:0.1311:0.7999:0.0	.	4574;1005	P20929;Q14215	NEBU_HUMAN;.	K	4574;6275;6275;623;1005;4574	ENSP00000386259:Q4574K;ENSP00000380505:Q6275K;ENSP00000416578:Q6275K;ENSP00000410961:Q1005K;ENSP00000172853:Q4574K	ENSP00000172853:Q4574K	Q	-	1	0	NEB	152127439	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.573000	0.74009	1.571000	0.49722	0.563000	0.77884	CAG	-	HMMSmart_SM00227		0.478	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		G	NM_004543		152127439	-1	no_errors	NM_004543.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	152419193	G	T	152419193	3	4	65	1	0	0	0	0	1	0	0	0	10302	1357	47	4	7115	4	NEB	2	152419193	Missense_Mutation	SNP	G	TCGA-AB-2871-03A-01W-0732-08		152419193	90780180	2	706											
RAP1GDS1	5910	genome.wustl.edu	37	4	99264373	99264373	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr4:99264373G>A	ENST00000408927.3	+	3	309	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.A67T|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.A67T|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.A67T|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.A66T|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.A67T	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	66					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTCCTGCAAAGCCAAAGTAGC	0.398			T	NUP98	T-ALL																																	dbGAP		Dom	yes		4	4q21-q25	5910	"RAP1, GTP-GDP dissociation stimulator 1"		L	0			4											88	85	86					4																	99264373		1863	4099	5962	99483396	SO:0001583	missense	0				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"Armadillo repeat containing"	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.196G>A	4.37:g.99264373G>A	ENSP00000386153:p.Ala66Thr	83	0	0		33	36.54	19	99483396	134	20.59	35	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat	p.A67T	ENST00000408927.3	37	c.199	CCDS43253.1	4	.	.	.	.	.	.	.	.	.	.	G	15.63	2.890153	0.52014	.	.	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T	0.52057	0.78;1.55;0.75;1.32;0.75;0.68;0.78;0.75	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.256944	0.39544	N	0.001335	T	0.42585	0.1209	L	0.29908	0.895	0.38386	D	0.945263	B;B;B;D;B;B	0.57257	0.036;0.003;0.002;0.979;0.011;0.011	B;B;B;P;B;B	0.49999	0.03;0.004;0.003;0.628;0.035;0.038	T	0.21075	-1.0256	10	0.09843	T	0.71	-1.2868	14.8015	0.69919	0.0:0.0:0.8559:0.1441	.	67;66;67;66;67;67	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.;.;.;GDS1_HUMAN;.;.	T	67;67;66;66;67;67;66;67	ENSP00000369503:A67T;ENSP00000264572:A67T;ENSP00000386153:A66T;ENSP00000424324:A66T;ENSP00000407157:A67T;ENSP00000421599:A67T;ENSP00000386223:A66T;ENSP00000340454:A67T	ENSP00000264572:A67T	A	+	1	0	RAP1GDS1	99483396	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.711000	0.54868	2.714000	0.92807	0.650000	0.86243	GCC	-	superfamily_ARM repeat		0.398	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	protein_coding	OTTHUMT00000363273.2	G	NM_001100426		99483396	1	no_errors	NM_001100426.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	99264373	G	A	99264373	3	1	65	1	0	0	0	0	1	0	0	0	13039	971	34	2	209	2	RAP1GDS1	4	99264373	Missense_Mutation	SNP	G	TCGA-AB-2871-03A-01W-0732-08		99264373	91889903	3	707											
PCDHB12	56124	genome.wustl.edu	37	5	140589778	140589778	+	Silent	SNP	C	C	T			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr5:140589778C>T	ENST00000239450.2	+	1	1488	c.1299C>T	c.(1297-1299)acC>acT	p.T433T	PCDHB12_ENST00000541609.1_Silent_p.T96T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	433	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTAAAAACCGAGCACAACA	0.572																																						dbGAP											0			5											101	96	98					5																	140589778		2203	4300	6503	140569962	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"Cadherins / Protocadherins : Clustered"	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1299C>T	5.37:g.140589778C>T		30	0	0					140569962	60	22.5	18	B4DDU1	Silent	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.T433	ENST00000239450.2	37	c.1299	CCDS4254.1	5																																																																																			-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.572	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	protein_coding	OTTHUMT00000251815.2	C	NM_018932		140569962	1	no_errors	NM_018932.3	genbank	human	reviewed	54_36p	silent	SNP	0.000	T	T	140589778	C	T	140589778	2	4	65	1	0	0	0	0	0	0	0	1	11537	639	23	1		1	PCDHB12	5	140589778	Silent	SNP	C	TCGA-AB-2871-03A-01W-0732-08		140589778	40325482	4	708											
COL12A1	1303	genome.wustl.edu	37	6	75860989	75860989	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr6:75860989C>A	ENST00000322507.8	-	21	4324	c.4015G>T	c.(4015-4017)Gat>Tat	p.D1339Y	COL12A1_ENST00000345356.6_Missense_Mutation_p.D175Y|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1339Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1339Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1339	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCGACTTCATCAGCATTTTTA	0.338																																						dbGAP											0			6											118	119	119					6																	75860989		1846	4088	5934	75917709	SO:0001583	missense	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4015G>T	6.37:g.75860989C>A	ENSP00000325146:p.Asp1339Tyr	129	0.77	1					75917709	109	17.29	23	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like	p.D1339Y	ENST00000322507.8	37	c.4015	CCDS43482.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.424165|4.424165	0.83667|0.83667	.|.	.|.	ENSG00000111799|ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888|ENST00000419671	D;D;D;D|.	0.81659|.	-1.52;-1.52;-1.52;-1.52|.	5.59|5.59	5.59|5.59	0.84812|0.84812	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.81744|.	0.4887|.	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.777;0.999|.	B;D|.	0.77004|.	0.404;0.989|.	T|.	0.83259|.	-0.0049|.	10|.	0.87932|.	D|.	0|.	.|.	19.5815|19.5815	0.95469|0.95469	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	175;1339|.	Q99715-2;Q99715|.	.;COCA1_HUMAN|.	Y|L	1339;1339;175;1339;1339|80	ENSP00000325146:D1339Y;ENSP00000305147:D175Y;ENSP00000412864:D1339Y;ENSP00000421216:D1339Y|.	ENSP00000325146:D1339Y|.	D|X	-|-	1|2	0|2	COL12A1|COL12A1	75917709|75917709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	7.443000|7.443000	0.80521|0.80521	2.626000|2.626000	0.88956|0.88956	0.650000|0.650000	0.86243|0.86243	GAT|TGA	-	HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like		0.338	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	C	NM_004370		75917709	-1	no_errors	NM_004370.5	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	75860989	C	A	75860989	3	1	65	1	0	0	0	0	1	0	0	0	3669	826	29	4	5360	4	COL12A1	6	75860989	Missense_Mutation	SNP	C	TCGA-AB-2871-03A-01W-0732-08		75860989	95254078	5	709											
TMEM55A	55529	genome.wustl.edu	37	8	92007979	92007979	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr8:92007979C>T	ENST00000285419.3	-	7	1014	c.700G>A	c.(700-702)Gga>Aga	p.G234R		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	234						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			CAGATCAATCCTAGGAGATAA	0.388																																						dbGAP											0			8											109	104	106					8																	92007979		2203	4300	6503	92077155	SO:0001583	missense	0			BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.700G>A	8.37:g.92007979C>T	ENSP00000285419:p.Gly234Arg	49	2	1		4	63.64	7	92077155	134	21.64	37	B2R9H4|Q68CU2	Missense_Mutation	SNP	HMMPfam_Tmemb_55A	p.G234R	ENST00000285419.3	37	c.700	CCDS6252.1	8	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372304	0.82573	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66645	0.2810	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70941	-0.4735	9	0.87932	D	0	-30.0047	19.4348	0.94786	0.0:1.0:0.0:0.0	.	234	Q8N4L2	TM55A_HUMAN	R	234;240	.	ENSP00000285419:G234R	G	-	1	0	TMEM55A	92077155	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.442000	0.80503	2.663000	0.90544	0.650000	0.86243	GGA	-	HMMPfam_Tmemb_55A		0.388	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM55A	protein_coding	OTTHUMT00000376778.1	C	NM_018710		92077155	-1	no_errors	NM_018710.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	92007979	C	T	92007979	3	4	65	1	0	0	0	0	1	0	0	0	16178	690	24	2	77	2	TMEM55A	8	92007979	Missense_Mutation	SNP	C	TCGA-AB-2871-03A-01W-0732-08		92007979	54356043	6	710											
PTPN11	5781	genome.wustl.edu	37	12	112926909	112926909	+	Missense_Mutation	SNP	A	A	T	rs121918470		TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr12:112926909A>T	ENST00000351677.2	+	13	1727	c.1529A>T	c.(1528-1530)cAg>cTg	p.Q510L		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	514	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		Q -> P (in LEOPARD1). {ECO:0000269|PubMed:14961557, ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:15690106}.|Q -> R (in NS1). {ECO:0000269|PubMed:15948193}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACAGAAGCACAGTACCGATTT	0.498			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0			12	GRCh37	CM043070|CM052358	PTPN11	M	rs121918470						182	170	174					12																	112926909		2203	4300	6503	111411292	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1529A>T	12.37:g.112926909A>T	ENSP00000340944:p.Gln510Leu	116	0	0		35	30	15	111411292	335	24.78	112	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.Q510L	ENST00000351677.2	37	c.1529	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	A	32	5.128559	0.94473	.	.	ENSG00000179295	ENST00000351677	D	0.99663	-6.33	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.99764	0.9904	H	0.97051	3.93	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96994	0.9724	10	0.87932	D	0	.	15.2256	0.73348	1.0:0.0:0.0:0.0	.	510	Q06124-2	.	L	510	ENSP00000340944:Q510L	ENSP00000340944:Q510L	Q	+	2	0	PTPN11	111411292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.910000	0.92685	2.064000	0.61679	0.528000	0.53228	CAG	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II		0.498	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	A			111411292	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	112926909	A	T	112926909	3	4	65	1	0	0	0	0	1	0	0	0	12780	188	7	5	1579	5	PTPN11	12	112926909	Missense_Mutation	SNP	A	TCGA-AB-2871-03A-01W-0732-08		112926909	20924986	7	711											
FLT3	2322	genome.wustl.edu	37	13	28608262	28608263	+	In_Frame_Ins	INS	-	-	TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	-	-	-	TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr13:28608262_28608263insTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC	ENST00000241453.7	-	14	1874_1875	c.1793_1794insGATGGTACAGGTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGA	c.(1792-1794)gaa>gaGATGGTACAGGTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAa	p.598_598E>EMVQVTGSSDNEYFYVDFREYE	FLT3_ENST00000537084.1_In_Frame_Ins_p.598_598E>EMVQVTGSSDNEYFYVDFREYE|FLT3_ENST00000380982.4_In_Frame_Ins_p.598_598E>EMVQVTGSSDNEYFYVDFREYE	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	598					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.597_598>DYVDFREY(1)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.E598_Y599ins14(1)|p.E598>DMISPEDMK(1)|p.E598_Y599insFYVDFREYE(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGATCATATTCATATTCTCT	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	6	Insertion - In frame(4)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(6)	13																																								27506263	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1731_1793dupGATGGTACAGGTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGA	13.37:g.28608262_28608263insTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC	ENSP00000241453:p.MetValGlnValThrGlySerSerAspAsnGluTyrPheTyrValAspPheArgGluTyrGlu598dup								27506262				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.599in_frame_insMVQVTGSSDNEYFYVDFREYE	ENST00000241453.7	37	c.1794_1793	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506263	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.789:0.821	TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC	TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC	28608263	-	TCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATC	28608262	7	5	65	1	0	1	1	0	0	0	0	0	5942	1490	52	0	1231	0	FLT3	13	28608262	In_Frame_Ins	INS	-	TCGA-AB-2871-03A-01W-0732-08		28608262	86561616	8	712											
KIAA0831	22863	genome.wustl.edu	37	14	55852586	55852586	+	Missense_Mutation	SNP	G	G	A	rs140426113		TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr14:55852586G>A	ENST00000247178.5	-	5	673	c.638C>T	c.(637-639)aCg>aTg	p.T213M		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	213					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCTCACACCCGTCTTTACTTC	0.373																																						dbGAP											0			14						G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	100	92	95		638	4.7	0.9	14	dbSNP_134	95	0,8600		0,0,4300	no	missense	ATG14	NM_014924.4	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	213/493	55852586	2,13004	2203	4300	6503	54922339	SO:0001583	missense	0			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"Barkor", "beclin 1-associated autophagy-related key regulator"	613515	"KIAA0831", "ATG14 autophagy related 14 homolog (S. cerevisiae)"	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.638C>T	14.37:g.55852586G>A	ENSP00000247178:p.Thr213Met	117	0	0		15	50	15	54922339	199	22.39	58	A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	HMMPfam_DUF2355	p.T213M	ENST00000247178.5	37	c.638	CCDS32087.1	14	.	.	.	.	.	.	.	.	.	.	g	18.14	3.558603	0.65538	4.54E-4	0.0	ENSG00000126775	ENST00000247178	T	0.32272	1.46	5.66	4.74	0.60224	.	0.251316	0.40469	N	0.001099	T	0.25382	0.0617	N	0.22421	0.69	0.39359	D	0.965886	D	0.55800	0.973	P	0.50109	0.631	T	0.07654	-1.0761	10	0.48119	T	0.1	-12.9479	5.8015	0.18416	0.0725:0.1393:0.6438:0.1445	.	213	Q6ZNE5	BAKOR_HUMAN	M	213	ENSP00000247178:T213M	ENSP00000247178:T213M	T	-	2	0	ATG14	54922339	0.999000	0.42202	0.870000	0.34147	0.922000	0.55478	2.909000	0.48758	1.346000	0.45694	0.650000	0.86243	ACG	-	HMMPfam_DUF2355		0.373	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0831	protein_coding	OTTHUMT00000416992.1	G	NM_014924		54922339	-1	no_errors	NM_014924.3	genbank	human	predicted	54_36p	missense	SNP	0.819	A	A	55852586	G	A	55852586	3	1	65	1	0	0	0	0	1	0	0	0	8195	1145	40	1	864	1	KIAA0831	14	55852586	Missense_Mutation	SNP	G	TCGA-AB-2871-03A-01W-0732-08		55852586	51496954	9	713											
HEATR4	399671	genome.wustl.edu	37	14	73989454	73989454	+	Missense_Mutation	SNP	C	C	T	rs376151634		TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr14:73989454C>T	ENST00000553558.1	-	3	724	c.403G>A	c.(403-405)Gct>Act	p.A135T	HEATR4_ENST00000334988.2_Missense_Mutation_p.A135T|HEATR4_ENST00000560393.1_Missense_Mutation_p.A88T|RP3-414A15.2_ENST00000555972.2_RNA|RP3-414A15.11_ENST00000553394.1_RNA	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	135										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTCTTCACAGCCAGGGAGGTG	0.547																																						dbGAP											0			14						C	THR/ALA,THR/ALA	0,4406		0,0,2203	76	74	75		403,403	-3.8	0	14		75	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	HEATR4	NM_203309.2,NM_001220484.1	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	135/1027,135/1027	73989454	1,13005	2203	4300	6503	73059207	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.403G>A	14.37:g.73989454C>T	ENSP00000450444:p.Ala135Thr	135	0	0		2	33.33	1	73059207	239	20.2	61	B7Z7V9|E9KL41	Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM-type_fold	p.A88T	ENST00000553558.1	37	c.262	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	14.68	2.609078	0.46527	0.0	1.16E-4	ENSG00000187105	ENST00000553558;ENST00000334988;ENST00000556455	T	0.22539	1.95	6.07	-3.77	0.04346	.	1.341570	0.04732	N	0.421274	T	0.14442	0.0349	N	0.24115	0.695	0.09310	N	1	B	0.30763	0.294	B	0.27887	0.084	T	0.37888	-0.9686	10	0.45353	T	0.12	0.6013	11.7017	0.51575	0.2565:0.2035:0.54:0.0	.	135	Q86WZ0	HEAT4_HUMAN	T	135;88;135	ENSP00000450444:A135T	ENSP00000335447:A88T	A	-	1	0	HEATR4	73059207	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	0.003000	0.13083	-0.220000	0.09988	-0.165000	0.13383	GCT	-	NULL		0.547	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73059207	-1	no_errors	NM_203309.1	genbank	human	provisional	54_36p	missense	SNP	0.001	T	T	73989454	C	T	73989454	3	4	65	1	0	0	0	0	1	0	0	0	7030	739	26	2	2741	2	HEATR4	14	73989454	Missense_Mutation	SNP	C	TCGA-AB-2871-03A-01W-0732-08	18136868	73989454	33360086	10	714											
VPS13C	54832	genome.wustl.edu	37	15	62182560	62182560	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr15:62182560T>C	ENST00000261517.5	-	67	9218	c.9145A>G	c.(9145-9147)Ata>Gta	p.I3049V	VPS13C_ENST00000249837.3_Missense_Mutation_p.I3006V|VPS13C_ENST00000395896.4_Missense_Mutation_p.I3049V|VPS13C_ENST00000395898.3_Missense_Mutation_p.I3006V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCCAGTGTATCTGGATGTTT	0.408																																						dbGAP											0			15											58	52	54					15																	62182560		2203	4300	6503	59969852	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"vacuolar protein sorting 13C (yeast)"				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9145A>G	15.37:g.62182560T>C	ENSP00000261517:p.Ile3049Val	114	0	0		58	26.58	21	59969852	121	22.78	36		Missense_Mutation	SNP	HMMPfam_DUF1162	p.I3049V	ENST00000261517.5	37	c.9145	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717694	0.30413	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.42900	0.96;0.96;0.96	5.5	4.39	0.52855	.	0.115206	0.64402	D	0.000015	T	0.32285	0.0824	L	0.35854	1.095	0.47737	D	0.999503	B;B;B;B	0.27765	0.034;0.144;0.069;0.188	B;B;B;B	0.28553	0.029;0.091;0.043;0.074	T	0.06197	-1.0840	10	0.27785	T	0.31	.	10.9218	0.47169	0.0:0.073:0.0:0.927	.	3006;3049;3006;3049	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	V	3006;3049;3049;3049	ENSP00000249837:I3006V;ENSP00000261517:I3049V;ENSP00000379233:I3049V	ENSP00000249837:I3006V	I	-	1	0	VPS13C	59969852	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.011000	0.49567	0.934000	0.37316	0.533000	0.62120	ATA	-	NULL		0.408	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	protein_coding	OTTHUMT00000415997.1	T	NM_017684		59969852	-1	no_errors	NM_020821.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	62182560	T	C	62182560	3	2	65	1	0	0	0	0	1	0	0	0	17188	1435	50	3	2220	3	VPS13C	15	62182560	Missense_Mutation	SNP	T	TCGA-AB-2871-03A-01W-0732-08		62182560	40348832	11	715											
LRFN3	79414	genome.wustl.edu	37	19	36435683	36435683	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr19:36435683C>T	ENST00000588831.1	+	4	2703	c.1649C>T	c.(1648-1650)tCg>tTg	p.S550L	AF038458.3_ENST00000592518.1_lincRNA|LRFN3_ENST00000246529.3_Missense_Mutation_p.S550L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	550					cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S550*(1)|p.S550L(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCGTAGCCTCGGTACTGGTC	0.667																																						dbGAP											2	Substitution - Missense(1)|Substitution - Nonsense(1)	upper_aerodigestive_tract(1)|kidney(1)	19											41	29	33					19																	36435683		2203	4300	6503	41127523	SO:0001583	missense	0			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	28370	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 1"	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1649C>T	19.37:g.36435683C>T	ENSP00000466989:p.Ser550Leu	27	0	0		5	0	0	41127523	72	17.24	15	Q6UY10	Missense_Mutation	SNP	HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058	p.S550L	ENST00000588831.1	37	c.1649	CCDS12483.1	19	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610405	0.87258	.	.	ENSG00000126243	ENST00000246529	T	0.56941	0.43	5.08	5.08	0.68730	.	0.000000	0.32655	N	0.005801	T	0.60919	0.2306	M	0.64170	1.965	0.52099	D	0.999941	D	0.57571	0.98	P	0.51016	0.656	T	0.64214	-0.6460	10	0.51188	T	0.08	.	15.9413	0.79756	0.0:1.0:0.0:0.0	.	550	Q9BTN0	LRFN3_HUMAN	L	550	ENSP00000246529:S550L	ENSP00000246529:S550L	S	+	2	0	LRFN3	41127523	1.000000	0.71417	0.848000	0.33437	0.456000	0.32438	7.745000	0.85046	2.359000	0.80004	0.591000	0.81541	TCG	-	NULL		0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN3	protein_coding	OTTHUMT00000457403.2	C	NM_024509		41127523	1	no_errors	NM_024509.1	genbank	human	provisional	54_36p	missense	SNP	0.979	T	T	36435683	C	T	36435683	3	4	65	1	0	0	0	0	1	0	0	0	8939	893	31	1	1655	1	LRFN3	19	36435683	Missense_Mutation	SNP	C	TCGA-AB-2871-03A-01W-0732-08		36435683	22693300	12	716											
KCNJ6	3763	genome.wustl.edu	37	21	39086792	39086792	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chr21:39086792C>T	ENST00000609713.1	-	3	1257	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R223Q|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	223					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTCCCCTACCCGGAACATCAG	0.512																																					Pancreas(48;379 1118 2936 19024 28214)	dbGAP											0			21											71	70	70					21																	39086792		1926	4154	6080	38008662	SO:0001583	missense	0			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Inwardly rectifying"	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.668G>A	21.37:g.39086792C>T	ENSP00000477437:p.Arg223Gln	42	0	0					38008662	72	27	27	Q3MJ74|Q53WW6	Missense_Mutation	SNP	HMMPfam_IRK,superfamily_Ig_E-set,superfamily_SSF81324	p.R223Q	ENST00000609713.1	37	c.668	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	C	33	5.283424	0.95489	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.97089	-4.24;-4.24	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98745	0.9578	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99004	1.0812	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	223	P48051	IRK6_HUMAN	Q	223	ENSP00000383330:R223Q;ENSP00000288309:R223Q	ENSP00000288309:R223Q	R	-	2	0	KCNJ6	38008662	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	CGG	-	HMMPfam_IRK,superfamily_Ig_E-set		0.512	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	protein_coding	OTTHUMT00000194828.2	C	NM_002240		38008662	-1	no_errors	NM_002240.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	39086792	C	T	39086792	3	4	65	1	0	0	0	0	1	0	0	0	8055	652	23	1	611	1	KCNJ6	21	39086792	Missense_Mutation	SNP	C	TCGA-AB-2871-03A-01W-0732-08		39086792	9043103	13	717											
STAG2	10735	genome.wustl.edu	37	X	123191828	123191828	+	Splice_Site	SNP	G	G	A			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chrX:123191828G>A	ENST00000371160.1	+	15	1706		c.e15+1		STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGAAAGTGAGGTTAGTTGATA	0.328																																						dbGAP											0			X											113	102	106					X																	123191828		2203	4300	6503	123019509	SO:0001630	splice_region_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1416+1G>A	X.37:g.123191828G>A		33	0	0		1	0	0	123019509	34	30.77	16	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	-	e13+1	ENST00000371160.1	37	c.1416+1	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838358	0.91117	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.565	0.91114	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123019509	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.753000	0.85153	2.327000	0.79052	0.600000	0.82982	.	-	-		0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	G	NM_006603	Intron	123019509	1	no_errors	NM_001042749.1	genbank	human	validated	54_36p	splice_site	SNP	1.000	A	A	123191828	G	A	123191828	5	1	65	1	0	0	0	0	0	0	1	0	15242	1275	44	2	1467	2	STAG2	23	123191828	Splice_Site	SNP	G	TCGA-AB-2871-03A-01W-0732-08		123191828	32078732	14	718											
ELF4	2000	genome.wustl.edu	37	X	129205024	129205024	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2871-03A-01W-0732-08	TCGA-AB-2871-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3e8efa46-6045-4be1-b41b-e7b98f165d24	6c7c2063-37fc-45fc-8401-6169345b8c05	g.chrX:129205024C>T	ENST00000308167.5	-	7	1179	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	ELF4_ENST00000335997.7_Missense_Mutation_p.R267Q	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCTTAGTGCCCGCCCCATTGT	0.527			T	ERG	AML																																	dbGAP		Dom	yes		X	Xq26	2000	E74-like factor 4 (ets domain transcription factor)		L	0			X											209	177	188					X																	129205024		2203	4300	6503	129032705	SO:0001583	missense	0			U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.800G>A	X.37:g.129205024C>T	ENSP00000311280:p.Arg267Gln	43	0	0		28	76.86	93	129032705	113	35.23	62		Missense_Mutation	SNP	HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785	p.R267Q	ENST00000308167.5	37	c.800	CCDS14617.1	X	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989221	0.93106	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.70399	-0.48;-0.48	5.27	5.27	0.74061	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	D	0.87289	0.6140	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90464	0.4448	10	0.87932	D	0	.	15.2366	0.73436	0.0:1.0:0.0:0.0	.	267	Q99607	ELF4_HUMAN	Q	267	ENSP00000338608:R267Q;ENSP00000311280:R267Q	ENSP00000311280:R267Q	R	-	2	0	ELF4	129032705	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	7.775000	0.85489	2.187000	0.69744	0.466000	0.42574	CGG	-	HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785		0.527	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF4	protein_coding	OTTHUMT00000058243.1	C	NM_001421		129032705	-1	no_errors	NM_001421.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	129205024	C	T	129205024	3	4	65	1	0	0	0	0	1	0	0	0	5056	652	23	1	1203	1	ELF4	23	129205024	Missense_Mutation	SNP	C	TCGA-AB-2871-03A-01W-0732-08	6013196	129205024	26065536	15	719											
TTN	7273	genome.wustl.edu	37	2	179606055	179606055	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr2:179606055C>T	ENST00000591111.1	-	46	11178	c.10954G>A	c.(10954-10956)Gtt>Att	p.V3652I	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V3969I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.V3798I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V3731I|TTN_ENST00000460472.2_Missense_Mutation_p.V3606I			Q8WZ42	TITIN_HUMAN	titin	13958	Ig-like 22.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCATGTAACAGTAGGGGCA	0.443																																						dbGAP											0			2											126	122	123					2																	179606055		1923	4132	6055	179314300	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10954G>A	2.37:g.179606055C>T	ENSP00000465570:p.Val3652Ile	102	1.92	2					179314300	143	42	105	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,PatternScan_FGGY_KINASES_1	p.V3800I	ENST00000591111.1	37	c.11398		2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835896	0.32421	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.72282	-0.64;-0.64;-0.64	5.87	2.53	0.30540	.	.	.	.	.	T	0.59004	0.2162	L	0.35593	1.075	0.22081	N	0.999375	B;B;B	0.12630	0.006;0.006;0.006	B;B;B	0.14023	0.01;0.01;0.01	T	0.54781	-0.8242	9	0.87932	D	0	.	9.2993	0.37835	0.0:0.6071:0.0:0.3929	.	3606;3731;3798	D3DPF9;E7EQE6;E7ET18	.;.;.	I	3606;3798;3731;3606	ENSP00000434586:V3606I;ENSP00000340554:V3798I;ENSP00000352154:V3731I	ENSP00000340554:V3798I	V	-	1	0	TTN	179314300	0.117000	0.22190	0.925000	0.36789	0.868000	0.49771	0.540000	0.23191	0.869000	0.35703	-0.150000	0.13652	GTT	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179314300	-1	no_stop_codon	ENST00000286104	ensembl	human	known	54_36p	missense	SNP	0.951	T	T	179606055	C	T	179606055	3	4	66	1	0	0	0	0	1	0	0	0	16732	478	17	2	92884	2	TTN	2	179606055	Missense_Mutation	SNP	C	TCGA-AB-2872-03A-01W-0732-08		179606055	63593318	1	720											
NMUR2	56923	genome.wustl.edu	37	5	151784257	151784257	+	Missense_Mutation	SNP	C	C	T	rs200145877		TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr5:151784257C>T	ENST00000255262.3	-	1	583	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	140					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			TCCACGCTGACGGTGGTGATG	0.642																																						dbGAP											0			5											60	64	63					5																	151784257		2203	4300	6503	151764450	SO:0001583	missense	0			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.418G>A	5.37:g.151784257C>T	ENSP00000255262:p.Val140Ile	18	5.26	1					151764450	70	48.15	65	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.V140I	ENST00000255262.3	37	c.418	CCDS4321.1	5	.	.	.	.	.	.	.	.	.	.	C	11.54	1.669807	0.29693	.	.	ENSG00000132911	ENST00000255262	T	0.60299	0.2	5.45	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.174283	0.39210	N	0.001439	T	0.41119	0.1145	N	0.10760	0.04	0.23293	N	0.997962	P	0.51653	0.947	P	0.45998	0.5	T	0.37957	-0.9683	10	0.54805	T	0.06	-18.0088	12.8575	0.57894	0.0:0.6219:0.3138:0.0643	.	140	Q9GZQ4	NMUR2_HUMAN	I	140	ENSP00000255262:V140I	ENSP00000255262:V140I	V	-	1	0	NMUR2	151764450	0.373000	0.25073	0.115000	0.21578	0.267000	0.26476	1.573000	0.36472	0.004000	0.14682	-0.797000	0.03246	GTC	-	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like		0.642	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	protein_coding	OTTHUMT00000252439.1	C	NM_020167		151764450	-1	no_errors	NM_020167.4	genbank	human	reviewed	54_36p	missense	SNP	0.391	T	T	151784257	C	T	151784257	3	4	66	1	0	0	0	0	1	0	0	0	10507	536	19	1	845	1	NMUR2	5	151784257	Missense_Mutation	SNP	C	TCGA-AB-2872-03A-01W-0732-08		151784257	29131003	2	721											
SPDEF	25803	genome.wustl.edu	37	6	34508852	34508852	+	Silent	SNP	C	C	T			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr6:34508852C>T	ENST00000374037.3	-	3	957	c.543G>A	c.(541-543)aaG>aaA	p.K181K	SPDEF_ENST00000544425.1_Silent_p.K181K	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	181	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CGCACAGCTCCTTGCCCGCCA	0.647																																						dbGAP											0			6											34	32	33					6																	34508852		2201	4300	6501	34616830	SO:0001819	synonymous_variant	0			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"SAM pointed domain containing ets transcription factor"			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.543G>A	6.37:g.34508852C>T		6	0	0		0	0	0	34616830	29	36.96	17	B4DWH8|F5H778	Silent	SNP	HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SAM_homology,superfamily_SSF46785	p.K181	ENST00000374037.3	37	c.543	CCDS4794.1	6																																																																																			-	HMMPfam_SAM_PNT,HMMSmart_SAM_PNT,superfamily_SAM_homology		0.647	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDEF	protein_coding	OTTHUMT00000040246.1	C	NM_012391		34616830	-1	no_errors	NM_012391.1	genbank	human	provisional	54_36p	silent	SNP	1.000	T	T	34508852	C	T	34508852	2	4	66	1	0	0	0	0	0	0	0	1	15025	680	24	2		2	SPDEF	6	34508852	Silent	SNP	C	TCGA-AB-2872-03A-01W-0732-08		34508852	136606215	3	722											
TJAP1	93643	genome.wustl.edu	37	6	43466819	43466819	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr6:43466819G>T	ENST00000372445.5	+	4	456	c.80G>T	c.(79-81)gGa>gTa	p.G27V	TJAP1_ENST00000438588.2_Missense_Mutation_p.G27V|TJAP1_ENST00000372444.2_Missense_Mutation_p.G27V|TJAP1_ENST00000372452.1_Missense_Mutation_p.G27V|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000372449.1_Missense_Mutation_p.G27V|TJAP1_ENST00000436109.2_Missense_Mutation_p.G27V|TJAP1_ENST00000259751.1_Missense_Mutation_p.G27V	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	27					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GAAATTCCTGGATCCCGGCTT	0.602																																						dbGAP											0			6											91	74	80					6																	43466819		2203	4300	6503	43574797	SO:0001583	missense	0			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"tight junction protein 4 (peripheral)"	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.80G>T	6.37:g.43466819G>T	ENSP00000361522:p.Gly27Val	51	0	0		11	56	14	43574797	109	36.93	65	Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Missense_Mutation	SNP	NULL	p.G27V	ENST00000372445.5	37	c.80	CCDS55004.1	6	.	.	.	.	.	.	.	.	.	.	G	6.122	0.390813	0.11581	.	.	ENSG00000137221	ENST00000372444;ENST00000372445;ENST00000436109;ENST00000442878;ENST00000259751;ENST00000372454;ENST00000372452;ENST00000372449;ENST00000438588	T;T;T;T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86;0.86;0.86;0.86	5.31	2.21	0.28008	.	0.534276	0.18371	N	0.143248	T	0.09202	0.0227	N	0.15975	0.35	0.28496	N	0.914233	B;B;B	0.18166	0.001;0.026;0.006	B;B;B	0.17098	0.001;0.017;0.011	T	0.27191	-1.0081	10	0.21014	T	0.42	-9.4904	4.0602	0.09834	0.0945:0.2995:0.4617:0.1443	.	27;27;27	E2QRK7;Q5JTD0;Q5JTD0-2	.;TJAP1_HUMAN;.	V	27	ENSP00000361521:G27V;ENSP00000361522:G27V;ENSP00000407080:G27V;ENSP00000390981:G27V;ENSP00000259751:G27V;ENSP00000361530:G27V;ENSP00000361527:G27V;ENSP00000408769:G27V	ENSP00000259751:G27V	G	+	2	0	TJAP1	43574797	0.948000	0.32251	0.571000	0.28486	0.721000	0.41392	1.359000	0.34113	0.575000	0.29434	0.655000	0.94253	GGA	-	NULL		0.602	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	protein_coding	OTTHUMT00000040629.1	G	NM_080604		43574797	1	no_errors	NM_080604.1	genbank	human	reviewed	54_36p	missense	SNP	0.026	T	T	43466819	G	T	43466819	3	4	66	1	0	0	0	0	1	0	0	0	15925	1174	41	4	82	4	TJAP1	6	43466819	Missense_Mutation	SNP	G	TCGA-AB-2872-03A-01W-0732-08	8957967	43466819	127648248	4	723											
RBM16	22828	genome.wustl.edu	37	6	155153900	155153900	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr6:155153900C>A	ENST00000367178.3	+	20	3763	c.3187C>A	c.(3187-3189)Cct>Act	p.P1063T	SCAF8_ENST00000367186.4_Missense_Mutation_p.P1129T|SCAF8_ENST00000417268.1_Missense_Mutation_p.P1063T|TIAM2_ENST00000461783.3_5'UTR	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1063	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTTTGGAAGACCTCCTGTAGA	0.502																																						dbGAP											0			6											50	52	51					6																	155153900		2203	4300	6503	155195592	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3187C>A	6.37:g.155153900C>A	ENSP00000356146:p.Pro1063Thr	54	3.51	2		39	26.42	14	155195592	134	48.88	131	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMSmart_RPR,HMMPfam_DUF618,superfamily_ENTH_VHS,superfamily_SSF54928	p.P1063T	ENST00000367178.3	37	c.3187	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347102	0.61183	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.51071	0.75;0.75;0.72	5.46	5.46	0.80206	.	0.000000	0.64402	U	0.000001	T	0.53658	0.1810	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.976	D;D;P	0.85130	0.997;0.996;0.761	T	0.57717	-0.7763	10	0.66056	D	0.02	.	19.3175	0.94220	0.0:1.0:0.0:0.0	.	1108;1129;1063	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	T	1063;1063;1129;24	ENSP00000356146:P1063T;ENSP00000413098:P1063T;ENSP00000356154:P1129T	ENSP00000356146:P1063T	P	+	1	0	TIAM2;SCAF8	155195592	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.932000	0.56537	2.563000	0.86464	0.655000	0.94253	CCT	-	NULL		0.502	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM16	protein_coding	OTTHUMT00000042798.1	C	NM_014892		155195592	1	no_errors	NM_014892.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	155153900	C	A	155153900	3	1	66	1	0	0	0	0	1	0	0	0	13118	507	18	4	3265	4	RBM16	6	155153900	Missense_Mutation	SNP	C	TCGA-AB-2872-03A-01W-0732-08	111687081	155153900	15961167	5	724											
LRRC4	64101	genome.wustl.edu	37	7	127669227	127669227	+	Silent	SNP	G	G	A			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr7:127669227G>A	ENST00000249363.3	-	2	1724	c.1467C>T	c.(1465-1467)acC>acT	p.T489T	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	489	Thr-rich.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CCGTGGTAGAGGTGGTATATG	0.562																																						dbGAP											0			7											160	126	138					7																	127669227		2203	4300	6503	127456463	SO:0001819	synonymous_variant	0			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1467C>T	7.37:g.127669227G>A		12	0	0		12	0	0	127456463	69	15.85	13	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like	p.T489	ENST00000249363.3	37	c.1467	CCDS5799.1	7																																																																																			-	NULL		0.562	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	protein_coding	OTTHUMT00000349170.1	G	NM_022143		127456463	-1	no_errors	NM_022143.4	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	127669227	G	A	127669227	2	1	66	1	0	0	0	0	0	0	0	1	8997	987	35	2		2	LRRC4	7	127669227	Silent	SNP	G	TCGA-AB-2872-03A-01W-0732-08		127669227	31469436	6	725											
CTNNA3	29119	genome.wustl.edu	37	10	68040231	68040231	+	Silent	SNP	A	A	T			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr10:68040231A>T	ENST00000433211.2	-	13	2055	c.1881T>A	c.(1879-1881)atT>atA	p.I627I	CTNNA3_ENST00000373744.4_Silent_p.I627I	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AACTTACCCGAATCATCATGA	0.358																																						dbGAP											0			10											169	163	165					10																	68040231		2203	4299	6502	67710237	SO:0001819	synonymous_variant	0			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1881T>A	10.37:g.68040231A>T		102	0.96	1					67710237	114	43.07	87		Silent	SNP	HMMPfam_Vinculin,superfamily_alpha-catenin/vinculin	p.I627	ENST00000433211.2	37	c.1881	CCDS7269.1	10																																																																																			-	HMMPfam_Vinculin		0.358	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	protein_coding	OTTHUMT00000048282.2	A	NM_013266		67710237	-1	no_errors	NM_013266.1	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	68040231	A	T	68040231	2	4	66	1	0	0	0	0	0	0	0	1	4014	242	9	5		5	CTNNA3	10	68040231	Silent	SNP	A	TCGA-AB-2872-03A-01W-0732-08		68040231	67494516	7	726											
DYRK4	8798	genome.wustl.edu	37	12	4705861	4705861	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr12:4705861C>T	ENST00000540757.2	+	6	686	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	DYRK4_ENST00000543431.1_Missense_Mutation_p.R176C|DYRK4_ENST00000010132.5_Missense_Mutation_p.R176C	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	176	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.R578C(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCTACTTTCGCAATCACTT	0.443																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)	12											177	155	162					12																	4705861		2203	4300	6503	4576122	SO:0001583	missense	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.526C>T	12.37:g.4705861C>T	ENSP00000441755:p.Arg176Cys	111	0	0					4576122	157	38.76	100	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R176C	ENST00000540757.2	37	c.526	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400752	0.83120	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;P;D	0.79108	0.992;0.877;0.963	T	0.51228	-0.8732	10	0.87932	D	0	.	18.9413	0.92607	0.0:1.0:0.0:0.0	.	291;176;176	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	C	291;176;176;176	ENSP00000437534:R291C;ENSP00000441755:R176C;ENSP00000010132:R176C;ENSP00000439697:R176C	ENSP00000010132:R176C	R	+	1	0	DYRK4	4576122	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.634000	0.61325	2.570000	0.86706	0.655000	0.94253	CGC	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.443	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	C			4576122	1	no_errors	NM_003845.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	4705861	C	T	4705861	3	4	66	1	0	0	0	0	1	0	0	0	4858	884	31	1	540	1	DYRK4	12	4705861	Missense_Mutation	SNP	C	TCGA-AB-2872-03A-01W-0732-08		4705861	129146034	8	727											
TCL1A	8115	genome.wustl.edu	37	14	96180354	96180354	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr14:96180354C>T	ENST00000402399.1	-	1	179	c.50G>A	c.(49-51)cGc>cAc	p.R17H	RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.R17H|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.R17H|TCL1A_ENST00000556450.1_Missense_Mutation_p.R17H|RP11-164H13.1_ENST00000556386.1_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	17					multicellular organismal development (GO:0007275)|stem cell maintenance (GO:0019827)	cell cortex (GO:0005938)|endoplasmic reticulum (GO:0005783)|pronucleus (GO:0045120)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GGCCCACAGGCGGTCCGGGTG	0.647			T	TRA@	T-CLL																																Ovarian(96;1068 2019 35393 39316)	dbGAP		Dom	yes		14	14q32.1	8115	T-cell leukemia/lymphoma 1A		L	0			14											88	80	83					14																	96180354		2203	4300	6503	95250107	SO:0001583	missense	0			X82240	CCDS9941.1	14q32.1	2008-07-03				ENSG00000100721			11648	protein-coding gene	gene with protein product		186960				2783489, 7809072	Standard	NM_021966		Approved	TCL1	uc001yfb.4	P56279		ENST00000402399.1:c.50G>A	14.37:g.96180354C>T	ENSP00000385036:p.Arg17His	26	0	0		6	0	0	95250107	53	32.91	26	Q6IBK7	Missense_Mutation	SNP	HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1	p.R17H	ENST00000402399.1	37	c.50	CCDS9941.1	14	.	.	.	.	.	.	.	.	.	.	C	11.94	1.789766	0.31685	.	.	ENSG00000100721	ENST00000554012;ENST00000402399;ENST00000556450;ENST00000555202	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	3.07	1.08	0.20341	.	0.538685	0.15407	N	0.263985	T	0.13200	0.0320	N	0.16066	0.365	0.32243	N	0.572405	B	0.23185	0.081	B	0.19148	0.024	T	0.27088	-1.0084	10	0.15066	T	0.55	-14.5898	4.3469	0.11138	0.0:0.6247:0.0:0.3753	.	17	P56279	TCL1A_HUMAN	H	17	ENSP00000451506:R17H;ENSP00000385036:R17H;ENSP00000450701:R17H;ENSP00000450496:R17H	ENSP00000385036:R17H	R	-	2	0	TCL1A	95250107	0.965000	0.33210	0.841000	0.33234	0.414000	0.31173	0.225000	0.17757	0.257000	0.21650	0.455000	0.32223	CGC	-	HMMPfam_TCL1_MTCP1,superfamily_TCL1_MTCP1		0.647	TCL1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TCL1A	protein_coding	OTTHUMT00000413246.1	C			95250107	-1	no_errors	NM_001098725.1	genbank	human	validated	54_36p	missense	SNP	0.953	T	T	96180354	C	T	96180354	3	4	66	1	0	0	0	0	1	0	0	0	15701	768	27	1	306	1	TCL1A	14	96180354	Missense_Mutation	SNP	C	TCGA-AB-2872-03A-01W-0732-08		96180354	11169186	9	728											
EXD1	161829	genome.wustl.edu	37	15	41482302	41482302	+	Nonsense_Mutation	SNP	G	G	A	rs371217636		TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr15:41482302G>A	ENST00000314992.5	-	9	905	c.715C>T	c.(715-717)Cga>Tga	p.R239*	RN7SL497P_ENST00000476341.2_RNA|EXD1_ENST00000458580.2_Nonsense_Mutation_p.R297*	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	239							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GAAACAGGTCGGATGAACCAT	0.428																																						dbGAP											0			15											110	113	112					15																	41482302		2203	4300	6503	39269594	SO:0001587	stop_gained	0			BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"exonuclease 3'-5' domain-like 1"	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.715C>T	15.37:g.41482302G>A	ENSP00000321029:p.Arg239*	91	2.15	2					39269594	99	38.41	63	A8K909|B7Z839|Q6ZW94	Nonsense_Mutation	SNP	HMMPfam_3_5_exonuc,HMMSmart_SM00474,superfamily_Ribonuclease H-like	p.R239*	ENST00000314992.5	37	c.715	CCDS10072.1	15	.	.	.	.	.	.	.	.	.	.	G	37	6.432506	0.97564	.	.	ENSG00000178997	ENST00000314992;ENST00000458580	.	.	.	6.17	3.13	0.36017	.	0.162931	0.39146	N	0.001457	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8542	8.6871	0.34245	0.0735:0.0:0.4973:0.4292	.	.	.	.	X	239;297	.	ENSP00000321029:R239X	R	-	1	2	EXD1	39269594	0.997000	0.39634	0.972000	0.41901	0.521000	0.34408	2.112000	0.41892	0.369000	0.24510	0.655000	0.94253	CGA	-	HMMSmart_SM00474,superfamily_Ribonuclease H-like		0.428	EXD1-001	KNOWN	basic|CCDS	protein_coding	EXD1	protein_coding	OTTHUMT00000252553.2	G	NM_152596		39269594	-1	no_errors	NM_152596.2	genbank	human	provisional	54_36p	nonsense	SNP	0.496	A	A	41482302	G	A	41482302	4	1	66	1	0	0	0	0	0	1	0	0	5297	1124	39	1	837	1	EXD1	15	41482302	Nonsense_Mutation	SNP	G	TCGA-AB-2872-03A-01W-0732-08		41482302	61049090	10	729											
CALR	811	genome.wustl.edu	37	19	13051080	13051081	+	Frame_Shift_Ins	INS	-	-	A	rs141216842		TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chr19:13051080_13051081insA	ENST00000316448.5	+	5	589_590	c.516_517insA	c.(517-519)acafs	p.T173fs		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	173	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	CACACCTGTACACACTGATTGT	0.545																																						dbGAP											0			19																																								12912081	SO:0001589	frameshift_variant	0			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.517dupA	19.37:g.13051081_13051081dupA	ENSP00000320866:p.Thr173fs	43	4.44	2		3033	7.7	253	12912080	82	29.31	34	Q6IAT4|Q9UDG2	Frame_Shift_Ins	INS	HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_CALRETICULIN_1,PatternScan_CALRETICULIN_2,PatternScan_CALRETICULIN_REPEAT	p.T172fs	ENST00000316448.5	37	c.516_517	CCDS12288.1	19																																																																																			-	HMMPfam_Calreticulin,superfamily_Concanavalin A-like lectins/glucanases		0.545	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	protein_coding	OTTHUMT00000451952.1	-	NM_004343		12912081	1	no_errors	NM_004343.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	A	A	13051081	-	A	13051080	7	5	66	1	0	1	1	0	0	0	0	0	2592	489	17	0	534	0	CALR	19	13051080	Frame_Shift_Ins	INS	-	TCGA-AB-2872-03A-01W-0732-08		13051080	46077903	11	730											
PCDH11X	27328	genome.wustl.edu	37	X	91133089	91133089	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2872-03A-01W-0732-08	TCGA-AB-2872-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	495c3e6d-76f1-499d-894b-761d50b70566	6bf7d555-2afc-4865-9b8f-97a5dd6609bd	g.chrX:91133089C>T	ENST00000373094.1	+	2	2695	c.1850C>T	c.(1849-1851)aCc>aTc	p.T617I	PCDH11X_ENST00000395337.2_Missense_Mutation_p.T617I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T617I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T617I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T617I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T617I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T617I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T617I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T617I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	617	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GATGACTTCACCATTGATTCA	0.388																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0			X											24	22	23					X																	91133089		2186	4263	6449	91019745	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"Cadherins / Protocadherins : Non-clustered"	8656	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 119"	300246	"protocadherin 11"	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1850C>T	X.37:g.91133089C>T	ENSP00000362186:p.Thr617Ile	15	0	0					91019745	9	74.36	29	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin-like	p.T617I	ENST00000373094.1	37	c.1850	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	3.089	-0.187402	0.06299	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.35	4.36	0.52297	Cadherin (4);Cadherin-like (1);	0.050673	0.85682	D	0.000000	T	0.27731	0.0682	N	0.11845	0.185	0.30467	N	0.773675	B;B;B;B;B;B;B;B	0.09022	0.001;0.0;0.001;0.001;0.001;0.002;0.0;0.0	B;B;B;B;B;B;B;B	0.14023	0.006;0.004;0.006;0.006;0.006;0.01;0.006;0.006	T	0.08229	-1.0732	10	0.25106	T	0.35	.	3.3638	0.07196	0.0:0.6:0.0:0.4	.	617;617;617;617;617;617;617;617	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	I	617	ENSP00000378746:T617I;ENSP00000362186:T617I;ENSP00000362189:T617I;ENSP00000355040:T617I;ENSP00000362180:T617I;ENSP00000423762:T617I;ENSP00000355105:T617I;ENSP00000384758:T617I;ENSP00000298274:T617I	ENSP00000298274:T617I	T	+	2	0	PCDH11X	91019745	1.000000	0.71417	0.997000	0.53966	0.295000	0.27426	3.853000	0.55941	2.212000	0.71576	0.415000	0.27848	ACC	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.388	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91019745	1	no_errors	NM_032968.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	91133089	C	T	91133089	3	4	66	1	0	0	0	0	1	0	0	0	11508	507	18	2	1856	2	PCDH11X	23	91133089	Missense_Mutation	SNP	C	TCGA-AB-2872-03A-01W-0732-08		91133089	64137471	12	731											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2873-03A-01W-0732-08	TCGA-AB-2873-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	367f90fd-a9b2-4013-8711-5eae94cddbc0	11c547f7-adee-4958-a1a8-57298a71f25e	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	37	38.33	23		13	38.1	8	25310746	99	32.43	48	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	67	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2873-03A-01W-0732-08		25457242	217742131	1	732											
TET2	54790	genome.wustl.edu	37	4	106157737	106157737	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2873-03A-01W-0732-08	TCGA-AB-2873-11A-01W-0732-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	367f90fd-a9b2-4013-8711-5eae94cddbc0	11c547f7-adee-4958-a1a8-57298a71f25e	g.chr4:106157737delC	ENST00000540549.1	+	3	3498	c.2638delC	c.(2638-2640)cacfs	p.H880fs	TET2_ENST00000513237.1_Frame_Shift_Del_p.H901fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.H880fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.H880fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.H880fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.H880fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.H880fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	880	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.H880fs*41(1)|p.H880fs*20(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGATCTTCTTCACAGGTGCTT	0.398			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Deletion - Frameshift(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(2)	4											66	64	65					4																	106157737		2203	4300	6503	106377186	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2638delC	4.37:g.106157737delC	ENSP00000442788:p.His880fs	29	17.14	6		45	51.55	50	106377186	51	37.78	34	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.H880fs	ENST00000540549.1	37	c.2638	CCDS47120.1	4																																																																																			-	NULL		0.398	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106377186	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	frame_shift_del	DEL	0.255	-	-	106157737	C	-	106157737	7	5	67	1	0	1	0	1	0	0	0	0	15767	826	29	0	2640	0	TET2	4	106157737	Frame_Shift_Del	DEL	C	TCGA-AB-2873-03A-01W-0732-08		106157737	84996539	2	733											
ETV3	2117	genome.wustl.edu	37	1	157105311	157105311	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr1:157105311C>T	ENST00000368192.4	-	3	300	c.236G>A	c.(235-237)aGg>aAg	p.R79K	ETV3_ENST00000326786.4_Missense_Mutation_p.R79K|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	79					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TTTGCATTTCCTGCGGCCCCA	0.527																																						dbGAP											0			1											48	51	50					1																	157105311		2203	4297	6500	155371935	SO:0001583	missense	0			BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"ets variant gene 3, ETS family transcriptional repressor", "ets variant gene 3"			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.236G>A	1.37:g.157105311C>T	ENSP00000357175:p.Arg79Lys	317	4.23	14		6	50	6	155371935	177	41.16	128	B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785	p.R79K	ENST00000368192.4	37	c.236	CCDS44250.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.361769	0.95877	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.23348	1.91;1.91	5.62	5.62	0.85841	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.64402	D	0.000001	T	0.41811	0.1175	L	0.58583	1.82	0.80722	D	1	D;D	0.69078	0.979;0.997	P;D	0.74348	0.907;0.983	T	0.27640	-1.0068	10	0.87932	D	0	.	18.4165	0.90572	0.0:1.0:0.0:0.0	.	79;79	P41162-2;P41162	.;ETV3_HUMAN	K	79	ENSP00000357175:R79K;ENSP00000327316:R79K	ENSP00000327316:R79K	R	-	2	0	ETV3	155371935	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.768000	0.85345	2.647000	0.89833	0.655000	0.94253	AGG	-	HMMPfam_Ets,HMMSmart_ETS,superfamily_SSF46785		0.527	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3	protein_coding	OTTHUMT00000082843.2	C	NM_005240		155371935	-1	no_errors	NM_005240.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	157105311	C	T	157105311	3	4	68	1	0	0	0	0	1	0	0	0	5279	681	24	2	1346	2	ETV3	1	157105311	Missense_Mutation	SNP	C	TCGA-AB-2874-03A-01W-0732-08		157105311	92145310	1	734											
GREM2	64388	genome.wustl.edu	37	1	240656704	240656704	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr1:240656704G>T	ENST00000318160.4	-	2	338	c.72C>A	c.(70-72)aaC>aaA	p.N24K		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	24					BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCGCCGGCCGGTTCTTCCGGG	0.627																																						dbGAP											0			1											12	14	14					1																	240656704		2150	4235	6385	238723327	SO:0001583	missense	0			AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"protein related to DAN and cerberus"	608832	"gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)", "gremlin 2"			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.72C>A	1.37:g.240656704G>T	ENSP00000318650:p.Asn24Lys	47	2.08	1					238723327	66	37.38	40	Q86UD9	Missense_Mutation	SNP	HMMPfam_DAN,HMMSmart_CT	p.N24K	ENST00000318160.4	37	c.72	CCDS31070.1	1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457709	0.26161	.	.	ENSG00000180875	ENST00000318160	T	0.30714	1.52	5.15	1.22	0.21188	.	0.366976	0.26915	U	0.021859	T	0.16769	0.0403	L	0.33485	1.01	0.50467	D	0.999878	B	0.11235	0.004	B	0.10450	0.005	T	0.25882	-1.0119	10	0.02654	T	1	1.3134	8.1646	0.31220	0.3902:0.0:0.6098:0.0	.	24	Q9H772	GREM2_HUMAN	K	24	ENSP00000318650:N24K	ENSP00000318650:N24K	N	-	3	2	GREM2	238723327	1.000000	0.71417	0.874000	0.34290	0.996000	0.88848	1.746000	0.38288	-0.024000	0.13941	0.557000	0.71058	AAC	-	NULL		0.627	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREM2	protein_coding	OTTHUMT00000096286.1	G	NM_022469		238723327	-1	no_errors	NM_022469.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	240656704	G	T	240656704	3	4	68	1	0	0	0	0	1	0	0	0	6762	1252	44	4	438	4	GREM2	1	240656704	Missense_Mutation	SNP	G	TCGA-AB-2874-03A-01W-0732-08	83551393	240656704	8593917	2	735											
OR6B2	389090	genome.wustl.edu	37	2	240968952	240968952	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr2:240968952C>A	ENST00000402971.2	-	1	954	c.895G>T	c.(895-897)Gac>Tac	p.D299Y		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TTCAAGGCGTCCTTAAATTCC	0.428																																						dbGAP											0			2											130	124	126					2																	240968952		1877	4108	5985	240617625	SO:0001583	missense	0				CCDS46559.1	2q37.3	2012-08-09	2004-10-07	2004-10-07	ENSG00000182083	ENSG00000182083		"GPCR / Class A : Olfactory receptors"	15041	protein-coding gene	gene with protein product			"olfactory receptor, family 6, subfamily B, member 2 pseudogene"	OR6B2P			Standard	XM_005247004		Approved		uc010zoc.2	Q6IFH4	OTTHUMG00000152400	ENST00000402971.2:c.895G>T	2.37:g.240968952C>A	ENSP00000384563:p.Asp299Tyr	78	0	0					240617625	81	45.81	71	B2RPR3|Q8NGW0	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.D299Y	ENST00000402971.2	37	c.895	CCDS46559.1	2	.	.	.	.	.	.	.	.	.	.	C	7.542	0.660980	0.14645	.	.	ENSG00000182083	ENST00000402971	T	0.38077	1.16	4.36	1.55	0.23275	.	0.816976	0.10518	N	0.665310	T	0.40498	0.1119	L	0.45228	1.405	0.09310	N	1	P	0.39862	0.692	P	0.49387	0.609	T	0.34502	-0.9826	10	0.87932	D	0	.	7.8737	0.29582	0.0:0.7161:0.0:0.2839	.	299	Q6IFH4	OR6B2_HUMAN	Y	299	ENSP00000384563:D299Y	ENSP00000384563:D299Y	D	-	1	0	OR6B2	240617625	0.142000	0.22610	0.005000	0.12908	0.160000	0.22226	1.119000	0.31258	0.197000	0.20387	0.591000	0.81541	GAC	-	superfamily_Family A G protein-coupled receptor-like		0.428	OR6B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6B2	protein_coding	OTTHUMT00000326079.1	C	NM_001005853		240617625	-1	no_errors	NM_001005853.1	genbank	human	provisional	54_36p	missense	SNP	0.046	A	A	240968952	C	A	240968952	3	1	68	1	0	0	0	0	1	0	0	0	11188	855	30	4	45	4	OR6B2	2	240968952	Missense_Mutation	SNP	C	TCGA-AB-2874-03A-01W-0732-08		240968952	2230421	3	736											
ARMC3	219681	genome.wustl.edu	37	10	23319672	23319672	+	Silent	SNP	C	C	A	rs201157292		TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr10:23319672C>A	ENST00000298032.5	+	17	2277	c.2193C>A	c.(2191-2193)acC>acA	p.T731T	ARMC3_ENST00000376528.4_Silent_p.T468T|ARMC3_ENST00000409983.3_Silent_p.T724T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	731						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATGAGGTGACCAAATCAATAC	0.358													C|||	1	0.000199681	8e-04	0	5008	,	,		18761	0		0	False		,,,				2504	0					dbGAP											0			10											158	142	147					10																	23319672		2203	4300	6503	23359678	SO:0001819	synonymous_variant	0			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"Armadillo repeat containing"	30964	protein-coding gene	gene with protein product	"cancer/testis antigen 81"	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2193C>A	10.37:g.23319672C>A		332	2.05	7					23359678	168	45.08	142	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	HMMPfam_Arm,HMMSmart_SM00185,superfamily_ARM repeat	p.T731	ENST00000298032.5	37	c.2193	CCDS7142.1	10																																																																																			-	NULL		0.358	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	protein_coding	OTTHUMT00000047197.2	C	NM_173081		23359678	1	no_errors	NM_173081.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	23319672	C	A	23319672	2	1	68	1	0	0	0	0	0	0	0	1	952	581	21	4		4	ARMC3	10	23319672	Silent	SNP	C	TCGA-AB-2874-03A-01W-0732-08		23319672	112215075	4	737											
WT1	7490	genome.wustl.edu	37	11	32413566	32413566	+	Missense_Mutation	SNP	G	G	A	rs121907900		TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr11:32413566G>A	ENST00000379079.2	-	9	1021	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	WT1_ENST00000332351.3_Missense_Mutation_p.R462W|WT1_ENST00000448076.3_Missense_Mutation_p.R462W|WT1_ENST00000530998.1_Missense_Mutation_p.R233W	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	394					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R394W(5)|p.R394G(2)|p.V380_S410del(1)|p.R394R(1)|p.R250R(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGGTCGGACCGGGAGAACTTT	0.433			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	10	Substitution - Missense(7)|Substitution - coding silent(2)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(5)|kidney(3)|lung(2)	11	GRCh37	CM910411	WT1	M	rs121907900						190	186	187					11																	32413566		2202	4299	6501	32370142	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.748C>T	11.37:g.32413566G>A	ENSP00000368370:p.Arg250Trp	142	0.69	1		16	30.43	7	32370142	124	26.9	46	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R462W	ENST00000379079.2	37	c.1384	CCDS55751.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.362352|4.362352	0.82353|0.82353	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000527882|ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	.|T;T;T;T;T	.|0.61627	.|3.19;0.09;0.09;3.19;3.19	6.04|6.04	5.11|5.11	0.69529|0.69529	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.64402	.|U	.|0.000011	T|T	0.74898|0.74898	0.3777|0.3777	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	A|A	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	T|T	0.81716|0.81716	-0.0806|-0.0806	4|9	.|0.72032	.|D	.|0.01	.|.	13.4397|13.4397	0.61106|0.61106	0.0:0.0:0.5732:0.4268|0.0:0.0:0.5732:0.4268	.|.	.|450;394;467;233;250	.|P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.|.;WT1_HUMAN;.;.;.	L|W	122|250;462;233;445;462	.|ENSP00000368370:R250W;ENSP00000331327:R462W;ENSP00000435307:R233W;ENSP00000415516:R445W;ENSP00000413452:R462W	.|ENSP00000331327:R462W	P|R	-|-	2|1	0|2	WT1|WT1	32370142|32370142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.054000|5.054000	0.64275|0.64275	1.531000|1.531000	0.49152|0.49152	0.561000|0.561000	0.74099|0.74099	CCG|CGG	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.433	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	G	NM_000378		32370142	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	32413566	G	A	32413566	3	1	68	1	0	0	0	0	1	0	0	0	17405	1115	39	1	177	1	WT1	11	32413566	Missense_Mutation	SNP	G	TCGA-AB-2874-03A-01W-0732-08		32413566	102592950	5	738											
CCDC60	160777	genome.wustl.edu	37	12	119968731	119968731	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr12:119968731G>A	ENST00000327554.2	+	13	1879	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	472										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTTCCGCCCCGCCAAAAAGAT	0.483																																						dbGAP											0			12											87	85	85					12																	119968731		2203	4300	6503	118453114	SO:0001583	missense	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1414G>A	12.37:g.119968731G>A	ENSP00000333374:p.Ala472Thr	161	1.83	3					118453114	123	46.86	112		Missense_Mutation	SNP	NULL	p.A472T	ENST00000327554.2	37	c.1414	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117063	0.77323	.	.	ENSG00000183273	ENST00000327554	T	0.23754	1.89	5.82	5.82	0.92795	.	0.196730	0.36303	N	0.002666	T	0.46983	0.1421	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.34378	-0.9831	9	.	.	.	-30.3014	11.005	0.47629	0.0848:0.0:0.9152:0.0	.	472	Q8IWA6	CCD60_HUMAN	T	472	ENSP00000333374:A472T	.	A	+	1	0	CCDC60	118453114	0.949000	0.32298	0.970000	0.41538	0.965000	0.64279	2.579000	0.46059	2.751000	0.94390	0.655000	0.94253	GCC	-	NULL		0.483	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	protein_coding	OTTHUMT00000401680.1	G	NM_178499		118453114	1	no_errors	NM_178499.3	genbank	human	validated	54_36p	missense	SNP	0.954	A	A	119968731	G	A	119968731	3	1	68	1	0	0	0	0	1	0	0	0	2831	1087	38	1	1464	1	CCDC60	12	119968731	Missense_Mutation	SNP	G	TCGA-AB-2874-03A-01W-0732-08		119968731	13883164	6	739											
SLITRK1	114798	genome.wustl.edu	37	13	84454094	84454094	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr13:84454094G>T	ENST00000377084.2	-	1	2434	c.1549C>A	c.(1549-1551)Cag>Aag	p.Q517K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	517					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GAGGTTAACTGGTCCAGCACC	0.567																																						dbGAP											0			13											52	54	53					13																	84454094		2203	4300	6503	83352095	SO:0001583	missense	0			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"leucine rich repeat containing 12"	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1549C>A	13.37:g.84454094G>T	ENSP00000366288:p.Gln517Lys	161	4.17	7					83352095	70	46.21	61	Q5U5I6|Q96SF9	Missense_Mutation	SNP	HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058	p.Q517K	ENST00000377084.2	37	c.1549	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816466	0.70912	.	.	ENSG00000178235	ENST00000377084	T	0.51574	0.7	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.44787	0.1310	N	0.16130	0.375	0.80722	D	1	P	0.47604	0.898	P	0.52957	0.714	T	0.31779	-0.9931	10	0.27785	T	0.31	-11.1432	17.693	0.88273	0.0:0.0:1.0:0.0	.	517	Q96PX8	SLIK1_HUMAN	K	517	ENSP00000366288:Q517K	ENSP00000366288:Q517K	Q	-	1	0	SLITRK1	83352095	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.813000	0.99286	2.603000	0.88011	0.655000	0.94253	CAG	-	superfamily_SSF52058		0.567	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	protein_coding	OTTHUMT00000045396.1	G	NM_052910		83352095	-1	no_errors	NM_052910.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	84454094	G	T	84454094	3	4	68	1	0	0	0	0	1	0	0	0	14742	1357	47	4	545	4	SLITRK1	13	84454094	Missense_Mutation	SNP	G	TCGA-AB-2874-03A-01W-0732-08		84454094	30715784	7	740											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	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_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron	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	103	103					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	116	4.92	6		137	43.62	106	88432938	91	46.2	79	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	T	90631934	C	T	90631934	3	4	68	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2874-03A-01W-0732-08		90631934	11899458	8	741											
MEFV	4210	genome.wustl.edu	37	16	3299462	3299462	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr16:3299462C>T	ENST00000219596.1	-	3	1268	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	MEFV_ENST00000541159.1_Missense_Mutation_p.R199H|MEFV_ENST00000536379.1_Missense_Mutation_p.R199H|MEFV_ENST00000339854.4_Missense_Mutation_p.R230H	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	410					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CTCAATGGGGCGCACCCGGTG	0.597																																						dbGAP											0			16											54	53	53					16																	3299462		2197	4300	6497	3239463	SO:0001583	missense	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"Tripartite motif containing / Tripartite motif containing"	6998	protein-coding gene	gene with protein product	"pyrin"	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1229G>A	16.37:g.3299462C>T	ENSP00000219596:p.Arg410His	140	1.4	2					3239463	61	54.74	75	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_SPRY,HMMPfam_PAAD_DAPIN,HMMSmart_SM00589,superfamily_DEATH domain,HMMSmart_SM00449,superfamily_B-box zinc-binding domain	p.R410H	ENST00000219596.1	37	c.1229	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	4.010	-0.000772	0.07819	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.35	0.977	0.19733	Zinc finger, B-box (3);	0.367311	0.23941	N	0.043056	T	0.32194	0.0821	M	0.80422	2.495	0.20563	N	0.999882	B	0.30281	0.275	B	0.21151	0.033	T	0.13361	-1.0512	10	0.15499	T	0.54	-26.3689	2.193	0.03904	0.1574:0.5222:0.1524:0.168	.	410	O15553	MEFV_HUMAN	H	410;410;230;199;199;199	ENSP00000219596:R410H;ENSP00000339639:R230H;ENSP00000438711:R199H;ENSP00000445079:R199H	ENSP00000219596:R410H	R	-	2	0	MEFV	3239463	0.001000	0.12720	0.636000	0.29352	0.001000	0.01503	0.162000	0.16501	0.487000	0.27698	-0.830000	0.03078	CGC	-	HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_B-box zinc-binding domain		0.597	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	protein_coding	OTTHUMT00000251464.1	C	NM_000243		3239463	-1	no_errors	NM_000243.2	genbank	human	reviewed	54_36p	missense	SNP	0.025	T	T	3299462	C	T	3299462	3	4	68	1	0	0	0	0	1	0	0	0	9459	768	27	1	1148	1	MEFV	16	3299462	Missense_Mutation	SNP	C	TCGA-AB-2874-03A-01W-0732-08		3299462	87055291	9	742											
SMG1	23049	genome.wustl.edu	37	16	18852940	18852940	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr16:18852940A>G	ENST00000446231.2	-	41	7055	c.6643T>C	c.(6643-6645)Ttt>Ctt	p.F2215L	SMG1_ENST00000389467.3_Missense_Mutation_p.F2215L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TAAAGACCAAATAAGGGTGTG	0.433																																						dbGAP											0			16											193	180	185					16																	18852940		1950	4151	6101	18760441	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6643T>C	16.37:g.18852940A>G	ENSP00000402515:p.Phe2215Leu	469	2.49	12		51	49	49	18760441	168	45.45	145	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_2	p.F2215L	ENST00000446231.2	37	c.6643	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647241	0.87958	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.75589	-0.95;-0.95	5.48	5.48	0.80851	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.64402	D	0.000001	T	0.81375	0.4809	L	0.41906	1.305	0.48185	D	0.999604	D;D	0.57257	0.974;0.979	D;D	0.74023	0.953;0.982	T	0.83221	-0.0068	10	0.72032	D	0.01	.	15.8631	0.79040	1.0:0.0:0.0:0.0	.	2075;2215	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	L	2215	ENSP00000402515:F2215L;ENSP00000374118:F2215L	ENSP00000374118:F2215L	F	-	1	0	SMG1	18760441	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.212000	0.95126	2.198000	0.70561	0.533000	0.62120	TTT	-	HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like)		0.433	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	protein_coding	OTTHUMT00000391817.1	A	NM_015092		18760441	-1	no_errors	NM_015092.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	18852940	A	G	18852940	3	3	68	1	0	0	0	0	1	0	0	0	14795	101	4	3	4434	3	SMG1	16	18852940	Missense_Mutation	SNP	A	TCGA-AB-2874-03A-01W-0732-08	15553478	18852940	71501813	10	743											
GPATCH8	23131	genome.wustl.edu	37	17	42475690	42475690	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr17:42475690G>A	ENST00000591680.1	-	8	3785	c.3755C>T	c.(3754-3756)aCc>aTc	p.T1252I	GPATCH8_ENST00000434000.1_Missense_Mutation_p.T1174I	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1252							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGACTCCAGGGTGTCCCCATC	0.602																																						dbGAP											0			17											128	127	128					17																	42475690		2203	4300	6503	39831216	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"G patch domain containing"	29066	protein-coding gene	gene with protein product		614396	"KIAA0553"	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3755C>T	17.37:g.42475690G>A	ENSP00000467556:p.Thr1252Ile	394	2.44	10		33	41.38	24	39831216	157	49.36	154	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	HMMPfam_G-patch,HMMSmart_SM00443,PatternScan_ZINC_FINGER_C2H2_1	p.T1252I	ENST00000591680.1	37	c.3755	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103506	0.37145	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.12879	2.64	4.76	4.76	0.60689	.	0.294997	0.32218	N	0.006413	T	0.08088	0.0202	N	0.08118	0	0.30249	N	0.794227	B	0.24258	0.1	B	0.18561	0.022	T	0.08330	-1.0727	10	0.37606	T	0.19	-5.1939	15.1393	0.72599	0.0:0.1414:0.8586:0.0	.	1252	Q9UKJ3	GPTC8_HUMAN	I	1252;1174	ENSP00000395016:T1174I	ENSP00000335486:T1252I	T	-	2	0	GPATCH8	39831216	0.990000	0.36364	0.996000	0.52242	0.938000	0.57974	3.059000	0.49947	2.467000	0.83353	0.557000	0.71058	ACC	-	NULL		0.602	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		39831216	-1	no_errors	NM_001002909.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	42475690	G	A	42475690	3	1	68	1	0	0	0	0	1	0	0	0	6594	1261	44	2	757	2	GPATCH8	17	42475690	Missense_Mutation	SNP	G	TCGA-AB-2874-03A-01W-0732-08		42475690	38719520	11	744											
CEBPA	1050	genome.wustl.edu	37	19	33792423	33792423	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr19:33792423G>A	ENST00000498907.2	-	1	1047	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	300	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R300G(1)|p.H200_K352>Q(1)|p.?(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GCCTTGTCGCGGCTCTTGCGC	0.657			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	3	Substitution - Missense(1)|Unknown(1)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(3)	19											47	49	48					19																	33792423		2203	4300	6503	38484263	SO:0001583	missense	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.898C>T	19.37:g.33792423G>A	ENSP00000427514:p.Arg300Cys	0	0	0		260	44.82	212	38484263	65	41.96	47	A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.R300C	ENST00000498907.2	37	c.898	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248465	0.80024	.	.	ENSG00000245848	ENST00000498907	T	0.72282	-0.64	4.7	4.7	0.59300	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	.	.	.	.	D	0.88089	0.6343	H	0.95982	3.75	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90975	0.4823	9	0.87932	D	0	.	11.8248	0.52261	0.0:0.0:0.8248:0.1752	.	300	P49715	CEBPA_HUMAN	C	300	ENSP00000427514:R300C	ENSP00000427514:R300C	R	-	1	0	CEBPA	38484263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.589000	0.53972	2.133000	0.65898	0.462000	0.41574	CGC	-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.657	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	G	NM_004364		38484263	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	33792423	G	A	33792423	3	1	68	1	0	0	0	0	1	0	0	0	3199	1116	39	1	182	1	CEBPA	19	33792423	Missense_Mutation	SNP	G	TCGA-AB-2874-03A-01W-0732-08		33792423	25336560	12	745											
PDCD2L	84306	genome.wustl.edu	37	19	34904746	34904746	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr19:34904746T>C	ENST00000246535.3	+	5	838	c.791T>C	c.(790-792)aTt>aCt	p.I264T	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	264					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAGGAGCAGATTTTGAGGTAA	0.323																																						dbGAP											0			19											107	116	113					19																	34904746		2203	4299	6502	39596586	SO:0001583	missense	0			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.791T>C	19.37:g.34904746T>C	ENSP00000246535:p.Ile264Thr	206	2.82	6		3	50	3	39596586	86	44.94	71		Missense_Mutation	SNP	HMMPfam_PDCD2_C	p.I264T	ENST00000246535.3	37	c.791	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	T	19.82	3.898296	0.72639	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.52	5.52	0.82312	Programmed cell death protein 2, C-terminal (1);	0.095984	0.64402	D	0.000001	D	0.84401	0.5464	M	0.91768	3.24	0.46725	D	0.999173	D	0.76494	0.999	D	0.72625	0.978	D	0.87704	0.2562	9	0.72032	D	0.01	-17.7855	13.1611	0.59544	0.0:0.0:0.0:1.0	.	264	Q9BRP1	PDD2L_HUMAN	T	264	.	ENSP00000246535:I264T	I	+	2	0	PDCD2L	39596586	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.699000	0.68310	2.094000	0.63399	0.482000	0.46254	ATT	-	HMMPfam_PDCD2_C		0.323	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	protein_coding	OTTHUMT00000459251.3	T	NM_032346		39596586	1	no_errors	NM_032346.1	genbank	human	provisional	54_36p	missense	SNP	1.000	C	C	34904746	T	C	34904746	3	2	68	1	0	0	0	0	1	0	0	0	11620	1493	52	3	809	3	PDCD2L	19	34904746	Missense_Mutation	SNP	T	TCGA-AB-2874-03A-01W-0732-08	1112323	34904746	24224237	13	746											
FCGBP	8857	genome.wustl.edu	37	19	40384119	40384119	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr19:40384119C>G	ENST00000221347.6	-	21	9498	c.9491G>C	c.(9490-9492)tGc>tCc	p.C3164S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3164	TIL 7.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGGCCGGGCAGGGTGGGCC	0.602																																						dbGAP											0			19											161	176	171					19																	40384119		2202	4298	6500	45075959	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9491G>C	19.37:g.40384119C>G	ENSP00000221347:p.Cys3164Ser	375	0.79	3					45075959	193	18.83	45	O95784	Missense_Mutation	SNP	HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL	p.C3164S	ENST00000221347.6	37	c.9491	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	17.80	3.479414	0.63849	.	.	ENSG00000090920	ENST00000221347	D	0.96745	-4.11	3.44	3.44	0.39384	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.98726	0.9572	H	0.97962	4.115	0.35390	D	0.790679	P	0.47409	0.895	D	0.64877	0.93	D	0.99969	1.1952	9	0.59425	D	0.04	.	14.0427	0.64687	0.0:1.0:0.0:0.0	.	3164	Q9Y6R7	FCGBP_HUMAN	S	3164	ENSP00000221347:C3164S	ENSP00000221347:C3164S	C	-	2	0	FCGBP	45075959	1.000000	0.71417	1.000000	0.80357	0.555000	0.35460	7.525000	0.81892	1.634000	0.50500	0.400000	0.26472	TGC	-	superfamily_Cysrich_TIL,HMMPfam_TIL		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890		45075959	-1	no_errors	NM_003890.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	40384119	C	G	40384119	3	3	68	1	0	0	0	0	1	0	0	0	5778	710	25	4	6790	4	FCGBP	19	40384119	Missense_Mutation	SNP	C	TCGA-AB-2874-03A-01W-0732-08	5479373	40384119	18744864	14	747											
AURKC	6795	genome.wustl.edu	37	19	57744037	57744037	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2874-03A-01W-0732-08	TCGA-AB-2874-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f1fb2e2-2463-4e1d-af0b-069bc0144e88	69a5771e-80a6-4c0e-af50-c10f51c985f6	g.chr19:57744037C>T	ENST00000302804.7	+	4	610	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	AURKC_ENST00000599062.1_Missense_Mutation_p.R139C|AURKC_ENST00000598785.1_Missense_Mutation_p.R108C|AURKC_ENST00000415300.2_Missense_Mutation_p.R123C|AURKC_ENST00000448930.1_Missense_Mutation_p.R108C	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGATGAACAGCGCACAGCCAC	0.552																																						dbGAP											0			19											68	66	67					19																	57744037		2203	4300	6503	62435849	SO:0001583	missense	0				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"serine/threonine kinase 13 (aurora/IPL1-like)"	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.424C>T	19.37:g.57744037C>T	ENSP00000302898:p.Arg142Cys	250	0.4	1		1	0	0	62435849	156	14.67	27	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R142C	ENST00000302804.7	37	c.424	CCDS33128.1	19	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749583	0.30955	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.66280	-0.2;-0.2;-0.2	3.81	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.184695	0.47093	D	0.000253	T	0.64068	0.2565	L	0.37466	1.105	0.49798	D	0.999827	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.65323	0.934;0.919;0.889	T	0.64871	-0.6305	10	0.87932	D	0	-1.1314	6.8103	0.23801	0.2033:0.5997:0.197:0.0	.	139;142;123	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	C	123;108;142	ENSP00000407162:R123C;ENSP00000406798:R108C;ENSP00000302898:R142C	ENSP00000302898:R142C	R	+	1	0	AURKC	62435849	0.999000	0.42202	0.745000	0.31077	0.005000	0.04900	1.086000	0.30853	1.175000	0.42826	-0.305000	0.09177	CGC	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.552	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	protein_coding	OTTHUMT00000465089.1	C	NM_003160		62435849	1	no_errors	NM_001015878.1	genbank	human	reviewed	54_36p	missense	SNP	0.983	T	T	57744037	C	T	57744037	3	4	68	1	0	0	0	0	1	0	0	0	1224	768	27	1	443	1	AURKC	19	57744037	Missense_Mutation	SNP	C	TCGA-AB-2874-03A-01W-0732-08	17359918	57744037	1384946	15	748											
CADM3	57863	genome.wustl.edu	37	1	159163315	159163315	+	Missense_Mutation	SNP	G	G	A	rs148250608		TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr1:159163315G>A	ENST00000368125.4	+	4	642	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	CADM3_ENST00000368124.4_Missense_Mutation_p.R196Q|CTA-134P22.2_ENST00000415675.2_RNA	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	162	Ig-like C2-type 1.		R -> W (in dbSNP:rs3026987).		adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CCTGCAGCCCGGCTCACCTGG	0.517																																						dbGAP											0			1						G	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	77	75	76		485,587	2.8	1	1	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CADM3	NM_001127173.1,NM_021189.3	43,43	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	benign,benign	162/399,196/433	159163315	3,13003	2203	4300	6503	157429939	SO:0001583	missense	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17601	protein-coding gene	gene with protein product	"nectin-like 1"	609743	"immunoglobulin superfamily, member 4B"	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.485G>A	1.37:g.159163315G>A	ENSP00000357107:p.Arg162Gln	79	0	0					157429939	151	36.18	89	Q8IZQ9|Q9NVJ5|Q9UJP1	Missense_Mutation	SNP	HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726	p.R196Q	ENST00000368125.4	37	c.587	CCDS44251.1	1	.	.	.	.	.	.	.	.	.	.	G	9.724	1.160435	0.21454	4.54E-4	1.16E-4	ENSG00000162706	ENST00000368124;ENST00000368125;ENST00000416746	T;T;T	0.75589	-0.95;-0.95;-0.95	5.13	2.77	0.32553	Immunoglobulin subtype (1);CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.004020	0.08017	N	0.991376	T	0.32133	0.0819	L	0.28192	0.835	0.22226	N	0.999273	B;B;B	0.18461	0.0;0.028;0.003	B;B;B	0.12156	0.001;0.007;0.001	T	0.19321	-1.0309	10	0.12103	T	0.63	.	3.5519	0.07850	0.5585:0.0:0.0956:0.3458	.	162;162;196	Q8N126-3;Q8N126;Q8N126-2	.;CADM3_HUMAN;.	Q	196;162;162	ENSP00000357106:R196Q;ENSP00000357107:R162Q;ENSP00000387802:R162Q	ENSP00000357106:R196Q	R	+	2	0	CADM3	157429939	0.929000	0.31497	0.989000	0.46669	0.989000	0.77384	2.135000	0.42112	0.394000	0.25230	-0.302000	0.09304	CGG	-	HMMSmart_IG,HMMPfam_C2-set_2,superfamily_SSF48726		0.517	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	protein_coding	OTTHUMT00000090330.1	G	NM_021189		157429939	1	no_errors	NM_021189.1	genbank	human	validated	54_36p	missense	SNP	0.991	A	A	159163315	G	A	159163315	3	1	69	1	0	0	0	0	1	0	0	0	2568	1116	39	1	605	1	CADM3	1	159163315	Missense_Mutation	SNP	G	TCGA-AB-2875-03A-01W-0732-08		159163315	90087306	1	749											
MAP2	4133	genome.wustl.edu	37	2	210558182	210558182	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr2:210558182G>A	ENST00000360351.4	+	7	1794	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.G426R|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	430					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CACCCCCAGTGGACAGGAACC	0.428																																					Pancreas(27;423 979 28787 29963)	dbGAP											0			2											79	81	81					2																	210558182		2203	4300	6503	210266427	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1288G>A	2.37:g.210558182G>A	ENSP00000353508:p.Gly430Arg	40	0	0					210266427	149	25.74	52	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1	p.G430R	ENST00000360351.4	37	c.1288	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	8.903	0.956765	0.18507	.	.	ENSG00000078018	ENST00000360351;ENST00000445941;ENST00000447185	T;T;T	0.18016	2.24;2.24;2.24	5.7	5.7	0.88788	MAP2/Tau projection (1);	0.305446	0.28301	N	0.015841	T	0.20333	0.0489	L	0.43152	1.355	0.09310	N	1	P;P	0.51147	0.928;0.942	P;P	0.51487	0.541;0.671	T	0.23048	-1.0199	10	0.40728	T	0.16	-7.038	5.978	0.19391	0.1129:0.0:0.7013:0.1858	.	426;430	P11137-3;P11137	.;MAP2_HUMAN	R	430;512;426	ENSP00000353508:G430R;ENSP00000409969:G512R;ENSP00000392164:G426R	ENSP00000353508:G430R	G	+	1	0	MAP2	210266427	0.248000	0.23930	0.210000	0.23637	0.081000	0.17604	1.229000	0.32600	2.682000	0.91365	0.650000	0.86243	GGA	-	HMMPfam_MAP2_projctn		0.428	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210266427	1	no_errors	NM_002374.1	genbank	human	reviewed	54_36p	missense	SNP	0.002	A	A	210558182	G	A	210558182	3	1	69	1	0	0	0	0	1	0	0	0	9235	1349	47	2	1302	2	MAP2	2	210558182	Missense_Mutation	SNP	G	TCGA-AB-2875-03A-01W-0732-08		210558182	32641191	2	750											
MYLK	4638	genome.wustl.edu	37	3	123427647	123427647	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr3:123427647G>T	ENST00000475616.1	-	12	2037	c.2038C>A	c.(2038-2040)Ctt>Att	p.L680I	MYLK_ENST00000346322.5_Missense_Mutation_p.L611I|MYLK_ENST00000360772.3_Missense_Mutation_p.L680I|MYLK_ENST00000360304.3_Missense_Mutation_p.L680I|MYLK_ENST00000359169.1_Missense_Mutation_p.L680I			Q15746	MYLK_HUMAN	myosin light chain kinase	680	Ig-like C2-type 5.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGATACAAAGGCTGTGCTGA	0.572																																						dbGAP											0			3											109	103	105					3																	123427647		2203	4300	6503	124910337	SO:0001583	missense	0			X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	7590	protein-coding gene	gene with protein product	"smooth muscle myosin light chain kinase"	600922	"myosin, light polypeptide kinase"			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.2038C>A	3.37:g.123427647G>T	ENSP00000418335:p.Leu680Ile	121	0	0					124910337	105	34.76	57	B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin	p.L680I	ENST00000475616.1	37	c.2038	CCDS46896.1	3	.	.	.	.	.	.	.	.	.	.	G	27.9	4.872962	0.91664	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.28	4.28	0.50868	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86451	0.5936	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.995;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.992;0.999;0.998;0.999	D	0.89514	0.3773	9	0.72032	D	0.01	.	17.2559	0.87056	0.0:0.0:1.0:0.0	.	680;611;680;611;680	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	680;680;680;611;680	ENSP00000354004:L680I;ENSP00000353452:L680I;ENSP00000352088:L680I;ENSP00000320622:L611I;ENSP00000418335:L680I	ENSP00000320622:L611I	L	-	1	0	MYLK	124910337	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	6.576000	0.74023	2.339000	0.79563	0.650000	0.86243	CTT	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.572	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYLK	protein_coding	OTTHUMT00000356464.1	G	NM_053025		124910337	-1	no_errors	NM_053025.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	123427647	G	T	123427647	3	4	69	1	0	0	0	0	1	0	0	0	10056	1000	35	4	3786	4	MYLK	3	123427647	Missense_Mutation	SNP	G	TCGA-AB-2875-03A-01W-0732-08		123427647	74594783	3	751											
SULT1B1	27284	genome.wustl.edu	37	4	70599886	70599886	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr4:70599886C>T	ENST00000310613.3	-	5	769	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1	158					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|cellular biogenic amine metabolic process (GO:0006576)|epithelial cell differentiation (GO:0030855)|flavonoid metabolic process (GO:0009812)|phenol-containing compound metabolic process (GO:0018958)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|thyroid hormone metabolic process (GO:0042403)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|sulfotransferase activity (GO:0008146)			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCCAGATATTCTTCCCAGGTA	0.294																																						dbGAP											0			4											24	25	25					4																	70599886		2201	4299	6500	70634475	SO:0001583	missense	0			D89479	CCDS3530.1	4q13.3	2008-02-05			ENSG00000173597	ENSG00000173597		"Sulfotransferases, cytosolic"	17845	protein-coding gene	gene with protein product		608436				11688987, 9443824	Standard	NM_014465		Approved	ST1B2	uc003hen.3	O43704	OTTHUMG00000129407	ENST00000310613.3:c.472G>A	4.37:g.70599886C>T	ENSP00000308770:p.Glu158Lys	21	0	0		5	0	0	70634475	125	32.98	63	O15497|Q96FI1|Q9UK34	Missense_Mutation	SNP	HMMPfam_Sulfotransfer_1,superfamily_SSF52540	p.E158K	ENST00000310613.3	37	c.472	CCDS3530.1	4	.	.	.	.	.	.	.	.	.	.	C	11.62	1.692624	0.30052	.	.	ENSG00000173597	ENST00000310613	T	0.02158	4.42	4.81	2.95	0.34219	Sulfotransferase domain (1);	0.110124	0.39909	N	0.001223	T	0.02848	0.0085	L	0.58302	1.8	0.09310	N	1	B	0.24963	0.115	B	0.27380	0.079	T	0.40683	-0.9550	10	0.51188	T	0.08	.	3.5381	0.07800	0.177:0.5586:0.1712:0.0932	.	158	O43704	ST1B1_HUMAN	K	158	ENSP00000308770:E158K	ENSP00000308770:E158K	E	-	1	0	SULT1B1	70634475	0.003000	0.15002	0.626000	0.29213	0.484000	0.33280	0.961000	0.29267	0.487000	0.27698	0.460000	0.39030	GAA	-	HMMPfam_Sulfotransfer_1,superfamily_SSF52540		0.294	SULT1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1B1	protein_coding	OTTHUMT00000251563.2	C	NM_014465		70634475	-1	no_errors	NM_014465.3	genbank	human	reviewed	54_36p	missense	SNP	0.608	T	T	70599886	C	T	70599886	3	4	69	1	0	0	0	0	1	0	0	0	15373	922	32	2	434	2	SULT1B1	4	70599886	Missense_Mutation	SNP	C	TCGA-AB-2875-03A-01W-0732-08		70599886	120554390	4	752											
BMPER	168667	genome.wustl.edu	37	7	33945274	33945274	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr7:33945274C>A	ENST00000297161.2	+	2	423	c.49C>A	c.(49-51)Cgc>Agc	p.R17S	BMPER_ENST00000426693.1_Missense_Mutation_p.R17S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	17					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTACTGCCGCCGCTCGCCTGG	0.662																																						dbGAP											0			7											46	43	44					7																	33945274		2203	4300	6503	33911799	SO:0001583	missense	0				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.49C>A	7.37:g.33945274C>A	ENSP00000297161:p.Arg17Ser	42	0	0					33911799	34	33.96	18	A8K1P8|Q8TF36	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_C8,HMMPfam_TIL	p.R17S	ENST00000297161.2	37	c.49	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297064	0.60086	.	.	ENSG00000164619	ENST00000297161;ENST00000426693;ENST00000436222	T;T	0.19105	2.17;2.17	3.65	2.67	0.31697	.	0.476823	0.18310	N	0.145140	T	0.07098	0.0180	N	0.02011	-0.69	0.24205	N	0.995497	B	0.16396	0.017	B	0.17979	0.02	T	0.34354	-0.9832	10	0.10636	T	0.68	.	10.6144	0.45441	0.0:0.803:0.197:0.0	.	17	Q8N8U9	BMPER_HUMAN	S	17	ENSP00000297161:R17S;ENSP00000393950:R17S	ENSP00000297161:R17S	R	+	1	0	BMPER	33911799	0.976000	0.34144	0.998000	0.56505	0.770000	0.43624	0.093000	0.15086	2.014000	0.59158	0.557000	0.71058	CGC	-	NULL		0.662	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	protein_coding	OTTHUMT00000250570.2	C	NM_133468		33911799	1	no_errors	NM_133468.3	genbank	human	validated	54_36p	missense	SNP	0.866	A	A	33945274	C	A	33945274	3	1	69	1	0	0	0	0	1	0	0	0	1468	652	23	4	51	4	BMPER	7	33945274	Missense_Mutation	SNP	C	TCGA-AB-2875-03A-01W-0732-08		33945274	125193389	5	753											
PPP1R3A	5506	genome.wustl.edu	37	7	113518991	113518991	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr7:113518991T>C	ENST00000284601.3	-	4	2224	c.2156A>G	c.(2155-2157)cAt>cGt	p.H719R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	719					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AGTAATGCCATGATCAGCTAG	0.388																																						dbGAP											0			7											184	178	180					7																	113518991		2203	4300	6503	113306227	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	9291	protein-coding gene	gene with protein product	"glycogen-associated regulatory subunit of protein phosphatase-1", "protein phosphatase 1 regulatory subunit GM"	600917	"protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)", "protein phosphatase 1, regulatory (inhibitor) subunit 3A"	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2156A>G	7.37:g.113518991T>C	ENSP00000284601:p.His719Arg	25	0	0					113306227	193	38.68	123	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	HMMPfam_CBM_21	p.H719R	ENST00000284601.3	37	c.2156	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114811	0.37339	.	.	ENSG00000154415	ENST00000284601	T	0.42900	0.96	6.01	2.21	0.28008	.	0.257506	0.34133	N	0.004232	T	0.55449	0.1921	M	0.72894	2.215	0.31045	N	0.71583	D	0.89917	1.0	D	0.71184	0.972	T	0.57952	-0.7722	10	0.87932	D	0	-2.2788	5.0431	0.14469	0.1159:0.0629:0.1214:0.6998	.	719	Q16821	PPR3A_HUMAN	R	719	ENSP00000284601:H719R	ENSP00000284601:H719R	H	-	2	0	PPP1R3A	113306227	1.000000	0.71417	0.975000	0.42487	0.624000	0.37722	2.034000	0.41145	0.133000	0.18654	-0.297000	0.09499	CAT	-	NULL		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	protein_coding	OTTHUMT00000346724.1	T	NM_002711		113306227	-1	no_errors	NM_002711.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	113518991	T	C	113518991	3	2	69	1	0	0	0	0	1	0	0	0	12371	1464	51	3	1216	3	PPP1R3A	7	113518991	Missense_Mutation	SNP	T	TCGA-AB-2875-03A-01W-0732-08	79573717	113518991	45619672	6	754											
DRD2	1813	genome.wustl.edu	37	11	113281641	113281641	+	Splice_Site	SNP	G	G	A	rs201123323		TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr11:113281641G>A	ENST00000362072.3	-	8	1484	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	DRD2_ENST00000544518.1_Splice_Site_p.G379G|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Splice_Site_p.G351G|DRD2_ENST00000542968.1_Splice_Site_p.G380G|DRD2_ENST00000355319.2_Splice_Site_p.G382G|DRD2_ENST00000538967.1_Splice_Site_p.G382G	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	380					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGATGAACACGCCTGGGGGAG	0.622																																						dbGAP											0			11											115	87	97					11																	113281641		2201	4296	6497	112786851	SO:0001630	splice_region_variant	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1139-1C>T	11.37:g.113281641G>A		269	0.74	2					112786851	115	39.59	78	Q9NZR3|Q9UPA9	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.G380	ENST00000362072.3	37	c.1140	CCDS8361.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.622	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795	Silent	112786851	-1	no_errors	NM_000795.3	genbank	human	reviewed	54_36p	silent	SNP	0.996	A	A	113281641	G	A	113281641	5	1	69	1	0	0	0	0	0	0	1	0	4757	1101	38	1	195	1	DRD2	11	113281641	Splice_Site	SNP	G	TCGA-AB-2875-03A-01W-0732-08		113281641	21724875	7	755											
CEP290	80184	genome.wustl.edu	37	12	88482885	88482885	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr12:88482885G>A	ENST00000552810.1	-	31	4296	c.3953C>T	c.(3952-3954)aCa>aTa	p.T1318I	CEP290_ENST00000397838.3_Missense_Mutation_p.T378I|CEP290_ENST00000547691.2_Missense_Mutation_p.T378I|CEP290_ENST00000309041.7_Missense_Mutation_p.T1320I	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1318					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATCTCCAATGTTTTGTTCTC	0.299																																						dbGAP											0			12											87	79	81					12																	88482885		1806	4073	5879	87007016	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"Joubert syndrome 5", "nephrocystin-6", "cancer/testis antigen 87", "POC3 centriolar protein homolog (Chlamydomonas)", "Meckel syndrome, type 4"	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.3953C>T	12.37:g.88482885G>A	ENSP00000448012:p.Thr1318Ile	54	0	0		10	50	10	87007016	144	37.71	89	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.T1318I	ENST00000552810.1	37	c.3953	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	12.37	1.916290	0.33815	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.65178	0.45;-0.14;-0.14;0.45	5.57	5.57	0.84162	.	0.339760	0.35646	N	0.003071	T	0.55657	0.1934	L	0.43152	1.355	0.44937	D	0.997955	B	0.31383	0.321	B	0.23419	0.046	T	0.52815	-0.8525	10	0.34782	T	0.22	.	19.5464	0.95299	0.0:0.0:1.0:0.0	.	1318	O15078	CE290_HUMAN	I	378;1318;1320;378	ENSP00000446905:T378I;ENSP00000448012:T1318I;ENSP00000308021:T1320I;ENSP00000380938:T378I	ENSP00000308021:T1320I	T	-	2	0	CEP290	87007016	1.000000	0.71417	0.882000	0.34594	0.911000	0.54048	8.898000	0.92538	2.629000	0.89072	0.591000	0.81541	ACA	-	NULL		0.299	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	protein_coding	OTTHUMT00000406344.1	G	NM_025114		87007016	-1	no_errors	NM_025114.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	88482885	G	A	88482885	3	1	69	1	0	0	0	0	1	0	0	0	3253	1377	48	2	3582	2	CEP290	12	88482885	Missense_Mutation	SNP	G	TCGA-AB-2875-03A-01W-0732-08		88482885	45369010	8	756											
FLT3	2322	genome.wustl.edu	37	13	28608261	28608262	+	In_Frame_Ins	INS	-	-	TTCATATTCTCTGAAATCAACGTAGGCCAC			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	-	-	-	TTCATATTCTCTGAAATCAACGTAGGCCAC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr13:28608261_28608262insTTCATATTCTCTGAAATCAACGTAGGCCAC	ENST00000241453.7	-	14	1875_1876	c.1794_1795insGTGGCCTACGTTGATTTCAGAGAATATGAA	c.(1792-1797)gaatat>gaaGTGGCCTACGTTGATTTCAGAGAATATGAAtat	p.597_598insEVAYVDFREY	FLT3_ENST00000380982.4_In_Frame_Ins_p.597_598insEVAYVDFREY|FLT3_ENST00000537084.1_In_Frame_Ins_p.597_598insEVAYVDFREY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	597	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.597_598>DYVDFREY(1)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.E598_Y599ins14(1)|p.E598_Y599insFYVDFREYE(1)|p.Y599_D600insFDFREYE(1)|p.Y599_D600>NEYFYVDFREYEY(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTGAGATCATATTCATATTCTC	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	7	Insertion - In frame(6)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(7)	13																																								27506262	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1794_1795insGTGGCCTACGTTGATTTCAGAGAATATGAA	13.37:g.28608261_28608262insTTCATATTCTCTGAAATCAACGTAGGCCAC	ENSP00000241453:p.Tyr597_Glu598insGluValAlaTyrValAspPheArgGluTyr								27506261				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.598in_frame_insVAYVDFREYE	ENST00000241453.7	37	c.1795_1794	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506262	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.999:0.789	TTCATATTCTCTGAAATCAACGTAGGCCAC	TTCATATTCTCTGAAATCAACGTAGGCCAC	28608262	-	TTCATATTCTCTGAAATCAACGTAGGCCAC	28608261	7	5	69	1	0	1	1	0	0	0	0	0	5942	449	16	0	1230	0	FLT3	13	28608261	In_Frame_Ins	INS	-	TCGA-AB-2875-03A-01W-0732-08		28608261	86561617	9	757											
FCGBP	8857	genome.wustl.edu	37	19	40433435	40433435	+	Silent	SNP	G	G	A			TCGA-AB-2875-03A-01W-0732-08	TCGA-AB-2875-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cbef6054-d359-4131-aa31-f1157d1eedf0	d438f139-6476-4e94-b41a-487b5120ffa2	g.chr19:40433435G>A	ENST00000221347.6	-	2	841	c.834C>T	c.(832-834)taC>taT	p.Y278Y		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	278	IgGFc-binding.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCATGGTTGTAGGTCAGCT	0.592																																						dbGAP											0			19											54	47	50					19																	40433435		2203	4300	6503	45125275	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.834C>T	19.37:g.40433435G>A		291	0.34	1		1	0	0	45125275	117	29.34	49	O95784	Silent	SNP	HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL	p.Y278	ENST00000221347.6	37	c.834	CCDS12546.1	19																																																																																			-	NULL		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	G	NM_003890		45125275	-1	no_errors	NM_003890.2	genbank	human	validated	54_36p	silent	SNP	0.223	A	A	40433435	G	A	40433435	2	1	69	1	0	0	0	0	0	0	0	1	5778	1372	48	2		2	FCGBP	19	40433435	Silent	SNP	G	TCGA-AB-2875-03A-01W-0732-08		40433435	18695548	10	758											
TDRD10	126668	genome.wustl.edu	37	1	154516513	154516513	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr1:154516513G>A	ENST00000368480.3	+	9	663	c.578G>A	c.(577-579)cGt>cAt	p.R193H	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.R193H			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	193							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R193L(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATAGCGTCCGTGGGGAGGCG	0.617																																						dbGAP											2	Substitution - Missense(2)	lung(2)	1											139	117	124					1																	154516513		2203	4300	6503	152783137	SO:0001583	missense	0			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"Tudor domain containing", "RNA binding motif (RRM) containing"	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.578G>A	1.37:g.154516513G>A	ENSP00000357465:p.Arg193His	169	2.31	4					152783137	126	40.65	87	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_TUDOR,superfamily_RNA-binding domain RBD,superfamily_Tudor/PWWP/MBT	p.R193H	ENST00000368480.3	37	c.578	CCDS41406.1	1	.	.	.	.	.	.	.	.	.	.	G	1.502	-0.551777	0.03996	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.26223	1.76;1.75	4.47	-4.29	0.03721	.	1.720350	0.03817	N	0.266885	T	0.04998	0.0134	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.04013	0.0;0.001	T	0.38478	-0.9659	10	0.62326	D	0.03	0.4588	5.7584	0.18186	0.5149:0.0:0.3529:0.1322	.	193;193	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	H	193	ENSP00000357467:R193H;ENSP00000357465:R193H	ENSP00000357465:R193H	R	+	2	0	TDRD10	152783137	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.643000	0.05421	-1.241000	0.02526	-0.378000	0.06908	CGT	-	NULL		0.617	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD10	protein_coding	OTTHUMT00000090700.2	G	NM_182499		152783137	1	no_errors	NM_001098475.1	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	154516513	G	A	154516513	3	1	70	1	0	0	0	0	1	0	0	0	15728	1145	40	1	608	1	TDRD10	1	154516513	Missense_Mutation	SNP	G	TCGA-AB-2876-03A-01W-0732-08		154516513	94734108	1	759											
TET2	54790	genome.wustl.edu	37	4	106156540	106156540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr4:106156540C>T	ENST00000540549.1	+	3	2301	c.1441C>T	c.(1441-1443)Cag>Tag	p.Q481*	TET2_ENST00000305737.2_Nonsense_Mutation_p.Q481*|TET2_ENST00000513237.1_Nonsense_Mutation_p.Q502*|TET2_ENST00000545826.1_Nonsense_Mutation_p.Q481*|TET2_ENST00000394764.1_Nonsense_Mutation_p.Q481*|TET2_ENST00000380013.4_Nonsense_Mutation_p.Q481*|TET2_ENST00000413648.2_Nonsense_Mutation_p.Q481*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	481					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q481*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGAAAGGCCTCAGAATAATTG	0.453			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	4											103	98	100					4																	106156540		2203	4300	6503	106375989	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1441C>T	4.37:g.106156540C>T	ENSP00000442788:p.Gln481*	77	4.94	4		40	52.94	45	106375989	109	46.83	96	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.Q481*	ENST00000540549.1	37	c.1441	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.892296	0.97074	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.17	5.17	0.71159	.	2.247170	0.02362	N	0.077003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	15.8598	0.79012	0.0:1.0:0.0:0.0	.	.	.	.	X	481;481;481;502;481;481;481;481	.	ENSP00000265149:Q481X	Q	+	1	0	TET2	106375989	1.000000	0.71417	1.000000	0.80357	0.157000	0.22087	3.535000	0.53575	2.402000	0.81655	0.650000	0.86243	CAG	-	NULL		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106375989	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	106156540	C	T	106156540	4	4	70	1	0	0	0	0	0	1	0	0	15767	827	29	2	1443	2	TET2	4	106156540	Nonsense_Mutation	SNP	C	TCGA-AB-2876-03A-01W-0732-08		106156540	84997736	2	760											
SCARA5	286133	genome.wustl.edu	37	8	27737199	27737199	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr8:27737199C>T	ENST00000354914.3	-	8	1723	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R188H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	413	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGTGCCCCAACGCCGGTCGTG	0.667																																						dbGAP											0			8											104	85	92					8																	27737199		2203	4300	6503	27793118	SO:0001583	missense	0			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"scavenger receptor class A, member 5 (putative)"			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1238G>A	8.37:g.27737199C>T	ENSP00000346990:p.Arg413His	43	2.27	1					27793118	41	56.38	53	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Collagen,HMMSmart_SM00202,superfamily_SRCR-like	p.R413H	ENST00000354914.3	37	c.1238	CCDS6064.1	8	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853881	0.71719	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.37411	1.2;1.2	4.87	4.87	0.63330	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.067490	0.64402	D	0.000011	T	0.51991	0.1707	L	0.42744	1.35	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.955;0.989	T	0.50415	-0.8831	10	0.49607	T	0.09	.	15.8518	0.78937	0.0:1.0:0.0:0.0	.	188;413	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	H	413;188	ENSP00000346990:R413H;ENSP00000369746:R188H	ENSP00000346990:R413H	R	-	2	0	SCARA5	27793118	0.990000	0.36364	0.999000	0.59377	0.984000	0.73092	1.142000	0.31540	2.406000	0.81754	0.591000	0.81541	CGT	-	HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like		0.667	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARA5	protein_coding	OTTHUMT00000255223.2	C	NM_173833		27793118	-1	no_errors	NM_173833.4	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	27737199	C	T	27737199	3	4	70	1	0	0	0	0	1	0	0	0	13880	536	19	1	257	1	SCARA5	8	27737199	Missense_Mutation	SNP	C	TCGA-AB-2876-03A-01W-0732-08		27737199	118626823	3	761											
MYO3A	53904	genome.wustl.edu	37	10	26305785	26305785	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr10:26305785G>A	ENST00000265944.5	+	7	711	c.545G>A	c.(544-546)cGg>cAg	p.R182Q	MYO3A_ENST00000376302.1_Missense_Mutation_p.R182Q|MYO3A_ENST00000543632.1_Missense_Mutation_p.R182Q|MYO3A_ENST00000376301.1_Missense_Mutation_p.R182Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGGCACCGTCGGAACACATCC	0.438																																						dbGAP											0			10											110	103	105					10																	26305785		2203	4300	6503	26345791	SO:0001583	missense	0			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"Myosins / Myosin superfamily : Class III"	7601	protein-coding gene	gene with protein product		606808	"deafness, autosomal recessive 30"	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.545G>A	10.37:g.26305785G>A	ENSP00000265944:p.Arg182Gln	51	0	0					26345791	82	43.06	62	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Myosin_head,HMMSmart_MYSc,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF52540	p.R182Q	ENST00000265944.5	37	c.545	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991960	0.93167	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.67	2.64	0.31445	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155814	0.56097	D	0.000028	T	0.67069	0.2854	L	0.32530	0.975	0.49299	D	0.999776	D;D;D;D	0.76494	0.993;0.995;0.999;0.996	P;P;D;P	0.72625	0.745;0.834;0.978;0.875	T	0.66404	-0.5932	10	0.72032	D	0.01	.	11.2167	0.48830	0.0:0.1211:0.6136:0.2653	.	182;182;182;182	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	Q	182	ENSP00000265944:R182Q;ENSP00000365479:R182Q;ENSP00000445909:R182Q;ENSP00000365478:R182Q	ENSP00000265944:R182Q	R	+	2	0	MYO3A	26345791	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	4.761000	0.62243	0.252000	0.21531	-0.182000	0.12963	CGG	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.438	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	G	NM_017433		26345791	1	no_errors	NM_017433.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	26305785	G	A	26305785	3	1	70	1	0	0	0	0	1	0	0	0	10076	1116	39	1	563	1	MYO3A	10	26305785	Missense_Mutation	SNP	G	TCGA-AB-2876-03A-01W-0732-08		26305785	109228962	4	762											
DPP3	10072	genome.wustl.edu	37	11	66249800	66249800	+	Silent	SNP	C	C	T	rs200614411		TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr11:66249800C>T	ENST00000360510.2	+	2	194	c.129C>T	c.(127-129)taC>taT	p.Y43Y	CTD-3074O7.5_ENST00000533502.1_RNA|DPP3_ENST00000453114.1_Silent_p.Y43Y|DPP3_ENST00000531863.1_Silent_p.Y63Y|DPP3_ENST00000532677.1_Silent_p.Y62Y|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000527274.2_RNA|DPP3_ENST00000541961.1_Silent_p.Y43Y|CTD-3074O7.5_ENST00000525142.1_RNA|DPP3_ENST00000530165.1_Silent_p.Y43Y			Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	43					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCGCCTGGTACGGAGGCCTGG	0.667																																						dbGAP											0			11											86	70	76					11																	66249800		2200	4295	6495	66006376	SO:0001819	synonymous_variant	0			AB017970	CCDS8141.1, CCDS58147.1	11q12-q13.1	2008-02-05	2006-01-12		ENSG00000254986	ENSG00000254986	3.4.14.4		3008	protein-coding gene	gene with protein product		606818	"dipeptidylpeptidase III", "dipeptidylpeptidase 3"			10773679	Standard	NM_005700		Approved		uc001oif.2	Q9NY33	OTTHUMG00000167143	ENST00000360510.2:c.129C>T	11.37:g.66249800C>T		66	1.49	1		19	53.66	22	66006376	46	36.99	27	B2RDB5|B4DLX4|F5H8L6|O95748|Q969H2|Q9BV67|Q9HAL6	Silent	SNP	HMMPfam_Peptidase_M49	p.Y43	ENST00000360510.2	37	c.129	CCDS8141.1	11																																																																																			-	NULL		0.667	DPP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP3	protein_coding	OTTHUMT00000393424.2	C			66006376	1	no_errors	NM_005700.3	genbank	human	reviewed	54_36p	silent	SNP	0.795	T	T	66249800	C	T	66249800	2	4	70	1	0	0	0	0	0	0	0	1	4728	547	19	1		1	DPP3	11	66249800	Silent	SNP	C	TCGA-AB-2876-03A-01W-0732-08		66249800	68756716	5	763											
EED	8726	genome.wustl.edu	37	11	85961447	85961447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr11:85961447C>A	ENST00000263360.6	+	2	910	c.224C>A	c.(223-225)tCa>tAa	p.S75*	EED_ENST00000351625.6_Nonsense_Mutation_p.S75*|EED_ENST00000528180.1_Nonsense_Mutation_p.S75*|EED_ENST00000327320.4_Nonsense_Mutation_p.S75*	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	75					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AAATGGAAGTCAAAGAAATGC	0.388																																						dbGAP											0			11											95	85	88					11																	85961447		2203	4299	6502	85639095	SO:0001587	stop_gained	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.224C>A	11.37:g.85961447C>A	ENSP00000263360:p.Ser75*	82	4.65	4		10	33.33	5	85639095	102	35.85	57	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Nonsense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.S75*	ENST00000263360.6	37	c.224	CCDS8273.1	11	.	.	.	.	.	.	.	.	.	.	C	44	10.633772	0.99441	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2209	17.9322	0.89000	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	.	S	+	2	0	EED	85639095	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.689000	0.84165	2.206000	0.71126	0.580000	0.79431	TCA	-	NULL		0.388	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	protein_coding	OTTHUMT00000393733.1	C	NM_003797		85639095	1	no_errors	NM_003797.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	85961447	C	A	85961447	4	1	70	1	0	0	0	0	0	1	0	0	4922	838	29	4	230	4	EED	11	85961447	Nonsense_Mutation	SNP	C	TCGA-AB-2876-03A-01W-0732-08	19711647	85961447	49045069	6	764											
MYF5	4617	genome.wustl.edu	37	12	81110903	81110903	+	Missense_Mutation	SNP	A	A	G	rs371882555		TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr12:81110903A>G	ENST00000228644.3	+	1	213	c.61A>G	c.(61-63)Ata>Gta	p.I21V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	21					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CGGCTCCTGCATACCGTCCCC	0.612																																						dbGAP											0			12						A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	59	54	55		61	6.2	1	12		55	0,8600		0,0,4300	no	missense	MYF5	NM_005593.2	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	21/256	81110903	1,13005	2203	4300	6503	79635034	SO:0001583	missense	0				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"Basic helix-loop-helix proteins"	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.61A>G	12.37:g.81110903A>G	ENSP00000228644:p.Ile21Val	33	8.33	3					79635034	44	32.31	21	Q6ISR9	Missense_Mutation	SNP	HMMPfam_HLH,HMMSmart_HLH,HMMPfam_Basic,HMMSmart_BASIC,superfamily_HLH_basic	p.I21V	ENST00000228644.3	37	c.61	CCDS9020.1	12	.	.	.	.	.	.	.	.	.	.	A	13.90	2.374254	0.42105	2.27E-4	0.0	ENSG00000111049	ENST00000228644	T	0.76316	-1.01	6.17	6.17	0.99709	Myogenic basic muscle-specific protein (2);	0.398932	0.30383	N	0.009755	T	0.76521	0.3999	M	0.63428	1.95	0.31733	N	0.636769	B	0.25351	0.124	B	0.31442	0.13	T	0.77800	-0.2452	10	0.44086	T	0.13	-3.3814	12.4758	0.55811	0.8513:0.1487:0.0:0.0	.	21	P13349	MYF5_HUMAN	V	21	ENSP00000228644:I21V	ENSP00000228644:I21V	I	+	1	0	MYF5	79635034	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.994000	0.49433	2.371000	0.80710	0.533000	0.62120	ATA	-	HMMPfam_Basic,HMMSmart_BASIC		0.612	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	protein_coding	OTTHUMT00000407757.1	A	NM_005593		79635034	1	no_errors	NM_005593.2	genbank	human	validated	54_36p	missense	SNP	0.999	G	G	81110903	A	G	81110903	3	3	70	1	0	0	0	0	1	0	0	0	10027	217	8	3	63	3	MYF5	12	81110903	Missense_Mutation	SNP	A	TCGA-AB-2876-03A-01W-0732-08		81110903	52740992	7	765											
SMCHD1	23347	genome.wustl.edu	37	18	2763718	2763718	+	Silent	SNP	T	T	C			TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr18:2763718T>C	ENST00000320876.6	+	37	4988	c.4650T>C	c.(4648-4650)gaT>gaC	p.D1550D	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Silent_p.D1550D	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1550					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGATACTGATACCCCACTTT	0.358																																						dbGAP											0			18											96	93	94					18																	2763718		1830	4094	5924	2753718	SO:0001819	synonymous_variant	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.4650T>C	18.37:g.2763718T>C		49	5.77	3		47	46.59	41	2753718	57	46.73	50	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	HMMPfam_HATPase_c,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_SMC_hinge,superfamily_Smc hinge domain	p.D1550	ENST00000320876.6	37	c.4650	CCDS45822.1	18																																																																																			-	NULL		0.358	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	protein_coding	OTTHUMT00000441082.2	T			2753718	1	no_errors	NM_015295.2	genbank	human	validated	54_36p	silent	SNP	0.919	C	C	2763718	T	C	2763718	2	2	70	1	0	0	0	0	0	0	0	1	14788	1403	49	3		3	SMCHD1	18	2763718	Silent	SNP	T	TCGA-AB-2876-03A-01W-0732-08		2763718	75313530	8	766											
MEX3C	51320	genome.wustl.edu	37	18	48702766	48702766	+	5'Flank	SNP	T	T	C	rs150981349	byFrequency	TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr18:48702766T>C	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TCTGGCAAACTGGACATGATG	0.408													T|||	4	0.000798722	0.003	0	5008	,	,		19021	0		0	False		,,,				2504	0					dbGAP											0			18						T		9,4397	14.3+/-33.2	0,9,2194	127	112	117		1935	4.6	1	18	dbSNP_134	117	0,8600		0,0,4300	no	coding-synonymous	MEX3C	NM_016626.4		0,9,6494	CC,CT,TT		0.0,0.2043,0.0692		645/660	48702766	9,12997	2203	4300	6503	46956764	SO:0001631	upstream_gene_variant	0			BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"RING-type (C3HC4) zinc fingers", "Mex-3 homologs"	28040	protein-coding gene	gene with protein product		611005	"ring finger and KH domain containing 2", "mex-3 homolog C (C. elegans)"	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48702766T>C	Exception_encountered	116	2.52	3		21	59.62	31	46956764	83	47.13	74	A1L022|Q9NZE3	Silent	SNP	HMMSmart_RING,HMMSmart_KH,PatternScan_ZF_RING_1,HMMPfam_KH_1,HMMPfam_zf-C3HC4,superfamily_SSF54791,superfamily_SSF57850	p.P645	ENST00000591040.1	37	c.1935		18																																																																																			-	HMMSmart_RING,HMMPfam_zf-C3HC4,superfamily_SSF57850		0.408	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	MEX3C	protein_coding	OTTHUMT00000449559.1	T	NM_016626		46956764	-1	no_errors	NM_016626.3	genbank	human	validated	54_36p	silent	SNP	1.000	C	C	48702766	T	C	48702766	1	2	70	0	1	0	0	0	0	0	0	0	9511	1567	55	3		3	MEX3C	18	48702766	5'Flank	SNP	T	TCGA-AB-2876-03A-01W-0732-08	45939048	48702766	29374482	9	767											
BPIL1	80341	genome.wustl.edu	37	20	31601736	31601736	+	Silent	SNP	C	C	T	rs141108798		TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chr20:31601736C>T	ENST00000170150.3	+	5	624	c.429C>T	c.(427-429)caC>caT	p.H143H		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	143						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TCTCGGGCCACGCCAACGAGT	0.597																																						dbGAP											0			20						C		0,4406		0,0,2203	56	49	52		429	-6.7	0	20	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BPIFB2	NM_025227.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		143/459	31601736	1,13005	2203	4300	6503	31065397	SO:0001819	synonymous_variant	0			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"BPI fold containing"	16177	protein-coding gene	gene with protein product		614108	"bactericidal/permeability-increasing protein-like 1"	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.429C>T	20.37:g.31601736C>T		67	9.46	7					31065397	47	50	47	Q6UWN3|Q6ZME0|Q8NFQ7	Silent	SNP	HMMPfam_LBP_BPI_CETP_C,HMMSmart_SM00329,HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI	p.H143	ENST00000170150.3	37	c.429	CCDS13210.1	20																																																																																			-	HMMPfam_LBP_BPI_CETP,superfamily_Bactericidal permeability-increasing protein BPI		0.597	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIL1	protein_coding	OTTHUMT00000078652.2	C	NM_025227		31065397	1	no_errors	NM_025227.1	genbank	human	reviewed	54_36p	silent	SNP	0.000	T	T	31601736	C	T	31601736	2	4	70	1	0	0	0	0	0	0	0	1	1491	535	19	1		1	BPIL1	20	31601736	Silent	SNP	C	TCGA-AB-2876-03A-01W-0732-08		31601736	31423784	10	768											
BRS3	680	genome.wustl.edu	37	X	135574280	135574280	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2876-03A-01W-0732-08	TCGA-AB-2876-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d48c086f-36b5-49ab-9e83-83520c701fd5	e4b17175-746c-47db-a509-7320119351b2	g.chrX:135574280C>T	ENST00000370648.3	+	3	1174	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	316					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CATTTTCTCTCGGGTTTTGGC	0.443																																						dbGAP											0			X											257	227	237					X																	135574280		2203	4300	6503	135401946	SO:0001583	missense	0				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"GPCR / Class A : Bombesin receptors"	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.946C>T	X.37:g.135574280C>T	ENSP00000359682:p.Arg316Trp	104	4.59	5					135401946	52	45.83	44		Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.R316W	ENST00000370648.3	37	c.946	CCDS14656.1	X	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801654	0.70682	.	.	ENSG00000102239	ENST00000370648	T	0.37752	1.18	5.81	5.81	0.92471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.65719	0.2718	M	0.88775	2.98	0.53688	D	0.999975	D	0.89917	1.0	D	0.97110	1.0	T	0.71401	-0.4604	10	0.59425	D	0.04	-10.6137	13.921	0.63930	0.1517:0.8483:0.0:0.0	.	316	P32247	BRS3_HUMAN	W	316	ENSP00000359682:R316W	ENSP00000359682:R316W	R	+	1	2	BRS3	135401946	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.504000	0.60414	2.439000	0.82584	0.600000	0.82982	CGG	-	HMMPfam_7tm_1,superfamily_SSF81321		0.443	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	protein_coding	OTTHUMT00000059005.1	C	NM_001727		135401946	1	no_errors	NM_001727.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	135574280	C	T	135574280	3	4	70	1	0	0	0	0	1	0	0	0	1522	875	31	1	956	1	BRS3	23	135574280	Missense_Mutation	SNP	C	TCGA-AB-2876-03A-01W-0732-08		135574280	19696280	11	769											
LRRC58	116064	genome.wustl.edu	37	3	120050085	120050085	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr3:120050085C>T	ENST00000295628.3	-	4	1173	c.1078G>A	c.(1078-1080)Gtt>Att	p.V360I		NM_001099678.1	NP_001093148.1	Q96CX6	LRC58_HUMAN	leucine rich repeat containing 58	360										large_intestine(2)|lung(5)	7				GBM - Glioblastoma multiforme(114;0.147)		CGTGCAGCAACACTAGCTTCA	0.433																																						dbGAP											0			3											79	79	79					3																	120050085		1953	4146	6099	121532775	SO:0001583	missense	0			BC013757	CCDS46892.1	3q13.33	2006-01-06			ENSG00000163428	ENSG00000163428			26968	protein-coding gene	gene with protein product							Standard	NM_001099678		Approved		uc003edr.2	Q96CX6	OTTHUMG00000159407	ENST00000295628.3:c.1078G>A	3.37:g.120050085C>T	ENSP00000295628:p.Val360Ile	89	1.11	1		12	45.45	10	121532775	92	41.14	65		Missense_Mutation	SNP	HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058	p.V360I	ENST00000295628.3	37	c.1078	CCDS46892.1	3	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328571	0.60743	.	.	ENSG00000163428	ENST00000295628	T	0.49432	0.78	5.61	4.74	0.60224	.	0.113233	0.64402	N	0.000014	T	0.46983	0.1421	M	0.67953	2.075	0.45634	D	0.998565	B	0.06786	0.001	B	0.06405	0.002	T	0.41980	-0.9478	10	0.41790	T	0.15	-5.86	13.4143	0.60959	0.0:0.9243:0.0:0.0757	.	360	Q96CX6	LRC58_HUMAN	I	360	ENSP00000295628:V360I	ENSP00000295628:V360I	V	-	1	0	LRRC58	121532775	1.000000	0.71417	0.946000	0.38457	0.996000	0.88848	4.733000	0.62036	1.369000	0.46134	0.655000	0.94253	GTT	-	NULL		0.433	LRRC58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC58	protein_coding	OTTHUMT00000355142.1	C	XM_057296		121532775	-1	no_errors	NM_001099678.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	120050085	C	T	120050085	3	4	71	1	0	0	0	0	1	0	0	0	9014	478	17	2	41	2	LRRC58	3	120050085	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08		120050085	77972345	1	770											
ILDR1	286676	genome.wustl.edu	37	3	121712623	121712623	+	Missense_Mutation	SNP	C	C	T	rs372613583		TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr3:121712623C>T	ENST00000344209.5	-	7	1099	c.973G>A	c.(973-975)Gtg>Atg	p.V325M	ILDR1_ENST00000462014.1_Missense_Mutation_p.V293M|ILDR1_ENST00000393631.1_Missense_Mutation_p.V236M|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000273691.3_Missense_Mutation_p.V281M	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	325					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CTGCGTTCCACGACCTCAGAG	0.602																																						dbGAP											0			3						C	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	80	78	79		973,706,841	4.8	0.4	3		79	0,8600		0,0,4300	no	missense,missense,missense	ILDR1	NM_001199799.1,NM_001199800.1,NM_175924.3	21,21,21	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	325/547,236/458,281/503	121712623	1,13005	2203	4300	6503	123195313	SO:0001583	missense	0			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.973G>A	3.37:g.121712623C>T	ENSP00000345667:p.Val325Met	104	0	0		1	50	1	123195313	159	39.25	104	Q6ZP61|Q7Z578	Missense_Mutation	SNP	HMMSmart_IG,HMMPfam_LSR,superfamily_SSF48726	p.V281M	ENST00000344209.5	37	c.841	CCDS56271.1	3	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711706	0.48517	2.27E-4	0.0	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;D;T	0.82081	-0.9;-0.61;-1.57;-0.51	5.66	4.79	0.61399	.	0.523743	0.23384	N	0.048768	D	0.88459	0.6442	L	0.61036	1.89	0.40378	D	0.979418	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;P;D;D	0.91635	0.999;0.791;0.969;0.969	D	0.86984	0.2106	10	0.31617	T	0.26	-19.428	12.1631	0.54115	0.0:0.9172:0.0:0.0828	.	236;325;281;293	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	M	281;325;236;293	ENSP00000273691:V281M;ENSP00000345667:V325M;ENSP00000377251:V236M;ENSP00000419414:V293M	ENSP00000273691:V281M	V	-	1	0	ILDR1	123195313	0.001000	0.12720	0.426000	0.26672	0.841000	0.47740	0.077000	0.14738	1.395000	0.46643	0.655000	0.94253	GTG	-	NULL		0.602	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	protein_coding	OTTHUMT00000355666.1	C	NM_175924		123195313	-1	no_errors	NM_175924.2	genbank	human	provisional	54_36p	missense	SNP	0.057	T	T	121712623	C	T	121712623	3	4	71	1	0	0	0	0	1	0	0	0	7709	536	19	1	675	1	ILDR1	3	121712623	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08	1662538	121712623	76309807	2	771											
KLF15	28999	genome.wustl.edu	37	3	126071369	126071369	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr3:126071369C>T	ENST00000296233.3	-	2	627	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	133					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGCCGTGGGACGTCATCAGGA	0.622																																						dbGAP											0			3											37	39	38					3																	126071369		2203	4300	6503	127554059	SO:0001583	missense	0			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"Kruppel-like transcription factors", "Zinc fingers, C2H2-type"	14536	protein-coding gene	gene with protein product	"kidney-enriched Kruppel-like factor"	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.397G>A	3.37:g.126071369C>T	ENSP00000296233:p.Val133Ile	13	0	0		1	0	0	127554059	14	56.25	18		Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.V133I	ENST00000296233.3	37	c.397	CCDS3036.1	3	.	.	.	.	.	.	.	.	.	.	C	1.139	-0.649978	0.03506	.	.	ENSG00000163884	ENST00000296233	T	0.07327	3.2	4.45	2.64	0.31445	.	0.803185	0.11583	N	0.549505	T	0.08403	0.0209	L	0.51422	1.61	0.09310	N	1	B	0.24368	0.102	B	0.17722	0.019	T	0.32640	-0.9899	10	0.32370	T	0.25	.	6.9792	0.24694	0.0:0.7014:0.0:0.2986	.	133	Q9UIH9	KLF15_HUMAN	I	133	ENSP00000296233:V133I	ENSP00000296233:V133I	V	-	1	0	KLF15	127554059	0.232000	0.23762	0.020000	0.16555	0.081000	0.17604	2.068000	0.41471	0.578000	0.29487	-0.216000	0.12614	GTC	-	NULL		0.622	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	protein_coding	OTTHUMT00000370096.1	C	NM_014079		127554059	-1	no_errors	NM_014079.3	genbank	human	validated	54_36p	missense	SNP	0.026	T	T	126071369	C	T	126071369	3	4	71	1	0	0	0	0	1	0	0	0	8343	536	19	1	861	1	KLF15	3	126071369	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08	4358746	126071369	71951061	3	772											
STEAP1	26872	genome.wustl.edu	37	7	89790158	89790158	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr7:89790158G>A	ENST00000297205.2	+	3	324	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	42					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					AAAAAGACCTGTGCTTTTGCA	0.418																																						dbGAP											0			7											113	110	111					7																	89790158		2203	4300	6503	89628094	SO:0001583	missense	0			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"Serine peptidases / Serine peptidases"	11378	protein-coding gene	gene with protein product		604415	"six transmembrane epithelial antigen of the prostate"	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.124G>A	7.37:g.89790158G>A	ENSP00000297205:p.Val42Met	106	0.92	1					89628094	128	35.15	71	A4D1E0|O95034	Missense_Mutation	SNP	HMMPfam_Ferric_reduct	p.V42M	ENST00000297205.2	37	c.124	CCDS5614.1	7	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273389	0.23221	.	.	ENSG00000164647	ENST00000297205	T	0.07021	3.23	5.02	4.14	0.48551	.	0.959572	0.08600	N	0.921670	T	0.10594	0.0259	L	0.40543	1.245	0.23816	N	0.996768	B;B	0.10296	0.003;0.003	B;B	0.11329	0.006;0.006	T	0.27088	-1.0084	10	0.52906	T	0.07	-0.0159	13.3882	0.60807	0.0:0.0:0.8426:0.1574	.	42;42	B4E221;Q9UHE8	.;STEA1_HUMAN	M	42	ENSP00000297205:V42M	ENSP00000297205:V42M	V	+	1	0	STEAP1	89628094	0.912000	0.30974	0.973000	0.42090	0.393000	0.30537	1.679000	0.37597	1.330000	0.45394	-0.152000	0.13540	GTG	-	NULL		0.418	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP1	protein_coding	OTTHUMT00000059327.3	G	NM_012449		89628094	1	no_errors	NM_012449.2	genbank	human	reviewed	54_36p	missense	SNP	0.191	A	A	89790158	G	A	89790158	3	1	71	1	0	0	0	0	1	0	0	0	15276	1377	48	2	130	2	STEAP1	7	89790158	Missense_Mutation	SNP	G	TCGA-AB-2877-03A-01W-0732-08		89790158	69348505	4	773											
FAM40B	57464	genome.wustl.edu	37	7	129091522	129091522	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr7:129091522C>T	ENST00000249344.2	+	4	383	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	STRIP2_ENST00000435494.2_Missense_Mutation_p.R115W	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	115					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											ACTCTTGGACCGGCTAGAGGT	0.552																																						dbGAP											0			7											76	74	75					7																	129091522		2203	4300	6503	128878758	SO:0001583	missense	0			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.343C>T	7.37:g.129091522C>T	ENSP00000249344:p.Arg115Trp	124	0.8	1		1	66.67	2	128878758	81	40.88	56	Q8WUZ4	Missense_Mutation	SNP	HMMPfam_N1221	p.R115W	ENST00000249344.2	37	c.343	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947220	0.73672	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.47528	0.84;0.84	4.48	2.44	0.29823	.	0.265950	0.33161	N	0.005202	T	0.49474	0.1559	L	0.50333	1.59	0.36304	D	0.857214	D;D	0.61697	0.99;0.979	P;P	0.54924	0.469;0.764	T	0.57917	-0.7728	10	0.62326	D	0.03	-10.3924	6.7608	0.23540	0.3539:0.4736:0.1725:0.0	.	115;115	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	W	115	ENSP00000249344:R115W;ENSP00000392393:R115W	ENSP00000249344:R115W	R	+	1	2	FAM40B	128878758	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.249000	0.58766	0.965000	0.38133	0.650000	0.86243	CGG	-	HMMPfam_N1221		0.552	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM40B	protein_coding	OTTHUMT00000349418.1	C	NM_001134336		128878758	1	no_errors	NM_020704.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	129091522	C	T	129091522	3	4	71	1	0	0	0	0	1	0	0	0	5561	643	23	1	357	1	FAM40B	7	129091522	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08	39301364	129091522	30047141	5	774											
XKR4	114786	genome.wustl.edu	37	8	56436028	56436028	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr8:56436028C>A	ENST00000327381.6	+	3	1295	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	399						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)			GGTTTTCCAGCTGTACTTTGG	0.512																																						dbGAP											0			8											349	276	301					8																	56436028		2203	4300	6503	56598582	SO:0001583	missense	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.1195C>A	8.37:g.56436028C>A	ENSP00000328326:p.Leu399Met	177	1.1	2					56598582	160	46.03	139	Q96PZ8	Missense_Mutation	SNP	HMMPfam_XK-related	p.L399M	ENST00000327381.6	37	c.1195	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492677	0.64074	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.68765	-0.35	5.71	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.69523	2.12	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.79526	-0.1767	10	0.54805	T	0.06	-12.4797	12.6233	0.56616	0.0:0.8821:0.0:0.1179	.	399	Q5GH76	XKR4_HUMAN	M	399	ENSP00000328326:L399M	ENSP00000328326:L399M	L	+	1	2	XKR4	56598582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.970000	0.63742	0.775000	0.33450	0.557000	0.71058	CTG	-	HMMPfam_XK-related		0.512	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56598582	1	no_errors	NM_052898.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	56436028	C	A	56436028	3	1	71	1	0	0	0	0	1	0	0	0	17430	796	28	4	1205	4	XKR4	8	56436028	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08		56436028	89927994	6	775											
LPPR1	54886	genome.wustl.edu	37	9	104086335	104086335	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr9:104086335C>T	ENST00000374874.3	+	8	1413	c.974C>T	c.(973-975)aCc>aTc	p.T325I	SNORA31_ENST00000517232.1_RNA|LPPR1_ENST00000395056.2_Missense_Mutation_p.T325I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		325					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)										ACCGAAGTTACCTGAGACGAC	0.413																																						dbGAP											0			9											156	123	134					9																	104086335		2203	4300	6503	103126156	SO:0001583	missense	0																														ENST00000374874.3:c.974C>T	9.37:g.104086335C>T	ENSP00000364008:p.Thr325Ile	175	1.13	2					103126156	142	37.12	85	Q5VX23|Q9NXE2	Missense_Mutation	SNP	HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase	p.T325I	ENST00000374874.3	37	c.974	CCDS6751.1	9	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835501	0.50951	.	.	ENSG00000148123	ENST00000374874;ENST00000374871;ENST00000395056	T;T	0.32988	1.43;1.43	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.42404	0.1201	N	0.19112	0.55	0.58432	D	0.999997	B;D	0.71674	0.206;0.998	B;D	0.73708	0.076;0.981	T	0.46400	-0.9194	10	0.87932	D	0	0.1166	17.8069	0.88604	0.0:1.0:0.0:0.0	.	309;325	B7Z8P4;Q8TBJ4	.;LPPR1_HUMAN	I	325	ENSP00000364008:T325I;ENSP00000378496:T325I	ENSP00000364005:T325I	T	+	2	0	RP11-35N6.1	103126156	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	6.013000	0.70776	2.449000	0.82847	0.650000	0.86243	ACC	-	NULL		0.413	LPPR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG-3	protein_coding	OTTHUMT00000053425.1	C			103126156	1	no_errors	NM_017753.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	104086335	C	T	104086335	3	4	71	1	0	0	0	0	1	0	0	0	8924	507	18	2	1000	2	LPPR1	9	104086335	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08		104086335	37127096	7	776											
FLRT1	28992	genome.wustl.edu	37	11	63884184	63884184	+	Intron	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr11:63884184C>T	ENST00000255681.6	-	3	584				RP11-21A7A.3_ENST00000543817.1_RNA|FLRT1_ENST00000246841.3_Missense_Mutation_p.R149C	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1						cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CTCGCTGGCCCGCATCCCGCT	0.617																																						dbGAP											0			11											47	43	44					11																	63884184		2201	4297	6498	63640760	SO:0001627	intron_variant	0			AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.517+34526G>A	11.37:g.63884184C>T		21	0	0		4	0	0	63640760	32	38.46	20	Q9UH96	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_fn3,HMMSmart_SM00364,superfamily_L domain-like	p.R149C	ENST00000255681.6	37	c.445	CCDS8056.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446414	0.63178	.	.	ENSG00000126500	ENST00000246841	T	0.58506	0.33	5.56	4.64	0.57946	.	0.068872	0.64402	D	0.000016	T	0.70753	0.3260	M	0.70108	2.13	0.80722	D	1	D	0.63046	0.992	P	0.60473	0.875	T	0.73062	-0.4101	10	0.56958	D	0.05	-34.6641	13.6819	0.62491	0.0:0.9229:0.0:0.0771	.	121	Q9NZU1	FLRT1_HUMAN	C	149	ENSP00000246841:R149C	ENSP00000246841:R149C	R	+	1	0	FLRT1	63640760	0.738000	0.28186	1.000000	0.80357	0.960000	0.62799	1.551000	0.36233	2.615000	0.88500	0.555000	0.69702	CGC	-	HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like		0.617	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT1	protein_coding	OTTHUMT00000396570.1	C	NM_014067		63640760	1	no_errors	NM_013280.4	genbank	human	reviewed	54_36p	missense	SNP	0.943	T	T	63884184	C	T	63884184	1	4	71	0	1	0	0	0	0	0	0	0	5938	652	23	1		1	FLRT1	11	63884184	Intron	SNP	C	TCGA-AB-2877-03A-01W-0732-08		63884184	71122332	8	777											
ELMOD1	55531	genome.wustl.edu	37	11	107501281	107501281	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr11:107501281G>A	ENST00000265840.7	+	3	421	c.156G>A	c.(154-156)atG>atA	p.M52I	ELMOD1_ENST00000531234.1_Missense_Mutation_p.M46I|ELMOD1_ENST00000443271.2_Missense_Mutation_p.M52I	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	52					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTAGAACCATGAAAATCGGTA	0.408																																						dbGAP											0			11											61	57	59					11																	107501281		1862	4102	5964	107006491	SO:0001583	missense	0			AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"ELMO domain containing 1"			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.156G>A	11.37:g.107501281G>A	ENSP00000265840:p.Met52Ile	159	1.84	3					107006491	166	40.07	113	B4E167|G5E9S5|Q9NPW3	Missense_Mutation	SNP	HMMPfam_ELMO_CED12	p.M52I	ENST00000265840.7	37	c.156	CCDS44723.1	11	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731663	0.30684	.	.	ENSG00000110675	ENST00000531234;ENST00000265840;ENST00000443271	.	.	.	5.62	5.62	0.85841	.	0.046863	0.85682	D	0.000000	T	0.42200	0.1192	N	0.22421	0.69	0.40539	D	0.981001	B;B	0.15473	0.006;0.013	B;B	0.06405	0.001;0.002	T	0.29671	-1.0004	9	0.22109	T	0.4	.	12.9371	0.58320	0.0741:0.0:0.9259:0.0	.	52;52	Q8N336;G5E9S5	ELMD1_HUMAN;.	I	46;52;52	.	ENSP00000265840:M52I	M	+	3	0	ELMOD1	107006491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.275000	0.43399	2.648000	0.89879	0.655000	0.94253	ATG	-	NULL		0.408	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	ELMOD1	protein_coding	OTTHUMT00000389406.1	G	NM_018712		107006491	1	no_errors	NM_018712.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	107501281	G	A	107501281	3	1	71	1	0	0	0	0	1	0	0	0	5068	1290	45	2	162	2	ELMOD1	11	107501281	Missense_Mutation	SNP	G	TCGA-AB-2877-03A-01W-0732-08	43617097	107501281	27505235	9	778											
IGSF9B	22997	genome.wustl.edu	37	11	133814258	133814258	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr11:133814258C>T	ENST00000321016.8	-	3	496	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R89Q			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	89	Ig-like 1.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGACTGGCCCGGCCTGGGGG	0.572																																						dbGAP											0			11											50	53	52					11																	133814258		1987	4152	6139	133319468	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.266G>A	11.37:g.133814258C>T	ENSP00000317980:p.Arg89Gln	40	4.76	2					133319468	42	40	28	G5EA26	Missense_Mutation	SNP	HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_V-set,superfamily_SSF48726	p.R89Q	ENST00000321016.8	37	c.266		11	.	.	.	.	.	.	.	.	.	.	C	35	5.453277	0.96223	.	.	ENSG00000080854	ENST00000321016;ENST00000527648;ENST00000533160;ENST00000526663	T;T;T;T	0.39787	1.06;1.06;1.06;1.35	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000035	T	0.67050	0.2852	M	0.74258	2.255	0.58432	D	0.999993	D	0.76494	0.999	D	0.74023	0.982	T	0.69209	-0.5205	10	0.87932	D	0	.	19.8208	0.96592	0.0:1.0:0.0:0.0	.	89	Q9UPX0	TUTLB_HUMAN	Q	89;89;79;136	ENSP00000317980:R89Q;ENSP00000436576:R89Q;ENSP00000434026:R79Q;ENSP00000435989:R136Q	ENSP00000317980:R89Q	R	-	2	0	IGSF9B	133319468	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	7.705000	0.84606	2.688000	0.91661	0.563000	0.77884	CGG	-	HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726		0.572	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	protein_coding		C	XM_290502		133319468	-1	no_errors	NM_014987.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	133814258	C	T	133814258	3	4	71	1	0	0	0	0	1	0	0	0	7606	652	23	1	3851	1	IGSF9B	11	133814258	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08	26312977	133814258	1192258	10	779											
TROAP	10024	genome.wustl.edu	37	12	49722966	49722966	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr12:49722966G>A	ENST00000257909.3	+	10	1119	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H	TROAP_ENST00000547923.1_Missense_Mutation_p.R56H|TROAP_ENST00000551245.1_Missense_Mutation_p.R348H	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	348					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTGTTGCGGCGTCTCACCGTT	0.557																																						dbGAP											0			12											218	209	212					12																	49722966		2203	4300	6503	48009233	SO:0001583	missense	0			U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"tastin"	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.1043G>A	12.37:g.49722966G>A	ENSP00000257909:p.Arg348His	160	5.33	9		12	47.83	11	48009233	145	41.9	106	F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	NULL	p.R348H	ENST00000257909.3	37	c.1043	CCDS8784.1	12	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474875	0.26511	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	5.33	2.11	0.27256	.	0.233411	0.30781	N	0.008883	T	0.17577	0.0422	N	0.15975	0.35	0.09310	N	1	B;B;B	0.13145	0.007;0.003;0.001	B;B;B	0.11329	0.006;0.006;0.002	T	0.10268	-1.0637	9	0.56958	D	0.05	-5.8502	3.4333	0.07436	0.2165:0.0:0.5813:0.2022	.	348;56;348	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	H	348;348;56	.	ENSP00000257909:R348H	R	+	2	0	TROAP	48009233	0.000000	0.05858	0.020000	0.16555	0.046000	0.14306	0.361000	0.20267	1.253000	0.44018	-0.448000	0.05591	CGT	-	NULL		0.557	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROAP	protein_coding	OTTHUMT00000404300.1	G	NM_005480		48009233	1	no_errors	NM_005480.1	genbank	human	validated	54_36p	missense	SNP	0.009	A	A	49722966	G	A	49722966	3	1	71	1	0	0	0	0	1	0	0	0	16572	1145	40	1	1179	1	TROAP	12	49722966	Missense_Mutation	SNP	G	TCGA-AB-2877-03A-01W-0732-08		49722966	84128929	11	780											
SACS	26278	genome.wustl.edu	37	13	23928871	23928871	+	Missense_Mutation	SNP	G	G	A	rs370893484	byFrequency	TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr13:23928871G>A	ENST00000382292.3	-	7	2153	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M	SACS_ENST00000476776.1_5'UTR|SACS_ENST00000402364.1_De_novo_Start_InFrame|SACS_ENST00000382298.3_Missense_Mutation_p.T627M			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	627					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCACGCGGGCGTCACCTTCCT	0.567													G|||	2	0.000399361	0	0	5008	,	,		18317	0.001		0	False		,,,				2504	0.001					dbGAP											0			13						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	68	62	64		1880	4.9	1	13		64	0,8600		0,0,4300	no	missense	SACS	NM_014363.4	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	627/4580	23928871	1,13005	2203	4300	6503	22826871	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"Heat shock proteins / DNAJ (HSP40)"	10519	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 138"	604490	"spastic ataxia of Charlevoix-Saguenay (sacsin)"			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.1880C>T	13.37:g.23928871G>A	ENSP00000371729:p.Thr627Met	34	0	0		6	40	4	22826871	48	49.47	47	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	superfamily_Chaperone J-domain,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_HEPN,HMMSmart_SM00748,superfamily_Nucleotidyltransferase substrate binding subunit/domain	p.T480M	ENST00000382292.3	37	c.1439	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747824	0.49257	2.27E-4	0.0	ENSG00000151835	ENST00000382292;ENST00000382298;ENST00000423156	T;T;T	0.11821	2.74;2.74;2.74	5.74	4.89	0.63831	.	0.049637	0.85682	D	0.000000	T	0.41282	0.1152	M	0.82630	2.6	0.37205	D	0.904574	D;D;D	0.89917	1.0;1.0;0.994	D;D;P	0.79108	0.984;0.992;0.742	T	0.56202	-0.8018	10	0.72032	D	0.01	.	15.2736	0.73726	0.0675:0.0:0.9324:0.0	.	526;414;627	B2REB1;E9PAL4;Q9NZJ4	.;.;SACS_HUMAN	M	627;627;251	ENSP00000371729:T627M;ENSP00000371735:T627M;ENSP00000390925:T251M	ENSP00000371729:T627M	T	-	2	0	SACS	22826871	1.000000	0.71417	0.963000	0.40424	0.390000	0.30446	5.306000	0.65756	1.568000	0.49683	0.561000	0.74099	ACG	-	NULL		0.567	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	G	NM_014363		22826871	-1	no_errors	NM_014363.4	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	23928871	G	A	23928871	3	1	71	1	0	0	0	0	1	0	0	0	13804	1145	40	1	11871	1	SACS	13	23928871	Missense_Mutation	SNP	G	TCGA-AB-2877-03A-01W-0732-08		23928871	91241007	12	781											
FLT3	2322	genome.wustl.edu	37	13	28608244	28608245	+	In_Frame_Ins	INS	-	-	TCCCATTTGAGATCATAT			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	-	-	-	TCCCATTTGAGATCATAT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr13:28608244_28608245insTCCCATTTGAGATCATAT	ENST00000241453.7	-	14	1892_1893	c.1811_1812insATATGATCTCAAATGGGA	c.(1810-1812)gag>gaATATGATCTCAAATGGGAg	p.604_604E>EYDLKWE	FLT3_ENST00000380982.4_In_Frame_Ins_p.604_604E>EYDLKWE|FLT3_ENST00000537084.1_In_Frame_Ins_p.604_604E>EYDLKWE	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	604					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.W603_E604insDREYEYDLKW(2)|p.E604_F605ins22(1)|p.E604_F605ins14(1)|p.E604_F605ins15(1)|p.E604_F605insREYEYDLKWE(1)|p.E604>DVDFREYEYDLKW(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCTTGGAAACTCCCATTTGAG	0.381			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	7	Insertion - In frame(6)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(7)	13																																								27506245	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1794_1811dupATATGATCTCAAATGGGA	13.37:g.28608244_28608245insTCCCATTTGAGATCATAT	ENSP00000241453:p.TyrAspLeuLysTrpGlu604dup								27506244				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.605in_frame_insYDLKWE	ENST00000241453.7	37	c.1812_1811	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506245	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	TCCCATTTGAGATCATAT	TCCCATTTGAGATCATAT	28608245	-	TCCCATTTGAGATCATAT	28608244	7	5	71	1	0	1	1	0	0	0	0	0	5942	564	20	0	1213	0	FLT3	13	28608244	In_Frame_Ins	INS	-	TCGA-AB-2877-03A-01W-0732-08	4679373	28608244	86561634	13	782											
FLRT2	23768	genome.wustl.edu	37	14	86088113	86088113	+	Silent	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr14:86088113C>T	ENST00000330753.4	+	2	1022	c.255C>T	c.(253-255)caC>caT	p.H85H	FLRT2_ENST00000554746.1_Silent_p.H85H	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	85					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGAACTGCACAATGTACAGT	0.488																																						dbGAP											0			14											134	121	126					14																	86088113		2203	4300	6503	85157866	SO:0001819	synonymous_variant	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.255C>T	14.37:g.86088113C>T		78	2.47	2					85157866	101	44.32	82	A0AV84|B7ZLP3	Silent	SNP	HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF52058	p.H85	ENST00000330753.4	37	c.255	CCDS9877.1	14																																																																																			-	superfamily_SSF52058		0.488	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	protein_coding	OTTHUMT00000413193.1	C			85157866	1	no_errors	NM_013231.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	86088113	C	T	86088113	2	4	71	1	0	0	0	0	0	0	0	1	5939	477	17	2		2	FLRT2	14	86088113	Silent	SNP	C	TCGA-AB-2877-03A-01W-0732-08		86088113	21261427	14	783											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	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	103	103					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	56	0	0		143	43.03	108	88432938	61	41.51	44	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	T	90631934	C	T	90631934	3	4	71	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08		90631934	11899458	15	784											
N4BP1	9683	genome.wustl.edu	37	16	48580097	48580097	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr16:48580097G>A	ENST00000262384.3	-	6	2530	c.2294C>T	c.(2293-2295)cCt>cTt	p.P765L	N4BP1_ENST00000565423.1_Intron	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	765					cellular response to UV (GO:0034644)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)	nucleolus (GO:0005730)|PML body (GO:0016605)				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CTCTAATCGAGGTCCACTTCT	0.423																																						dbGAP											0			16											114	109	111					16																	48580097		1918	4121	6039	47137598	SO:0001583	missense	0			AK026937	CCDS45479.1	16q12.1	2008-01-18				ENSG00000102921			29850	protein-coding gene	gene with protein product						9734811, 11717310	Standard	NM_153029		Approved		uc002efp.3	O75113		ENST00000262384.3:c.2294C>T	16.37:g.48580097G>A	ENSP00000262384:p.Pro765Leu	53	0	0		25	41.86	18	47137598	100	30	45	A7MD49|Q2YDX1	Missense_Mutation	SNP	NULL	p.P765L	ENST00000262384.3	37	c.2294	CCDS45479.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.520880	0.96416	.	.	ENSG00000102921	ENST00000262384	T	0.47177	0.85	5.87	5.87	0.94306	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.77928	-0.2404	10	0.56958	D	0.05	-23.6632	20.2181	0.98305	0.0:0.0:1.0:0.0	.	765	O75113	N4BP1_HUMAN	L	765	ENSP00000262384:P765L	ENSP00000262384:P765L	P	-	2	0	N4BP1	47137598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.376000	0.79658	2.785000	0.95823	0.655000	0.94253	CCT	-	NULL		0.423	N4BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP1	protein_coding	OTTHUMT00000429920.1	G	NM_014664		47137598	-1	no_errors	NM_153029.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	48580097	G	A	48580097	3	1	71	1	0	0	0	0	1	0	0	0	10109	1000	35	2	404	2	N4BP1	16	48580097	Missense_Mutation	SNP	G	TCGA-AB-2877-03A-01W-0732-08		48580097	41774656	16	785											
UNC45B	146862	genome.wustl.edu	37	17	33481714	33481714	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr17:33481714C>T	ENST00000268876.5	+	6	690	c.593C>T	c.(592-594)gCt>gTt	p.A198V	UNC45B_ENST00000378449.1_Missense_Mutation_p.A198V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A198V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A198V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A198V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	198					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGTGCTGGCTGCAGTGCGG	0.602																																						dbGAP											0			17											68	59	62					17																	33481714		2203	4300	6503	30505827	SO:0001583	missense	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"cardiomyopathy associated 4"	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.593C>T	17.37:g.33481714C>T	ENSP00000268876:p.Ala198Val	41	0	0					30505827	48	52.83	56	Q495Q8|Q495Q9	Missense_Mutation	SNP	HMMSmart_SM00185,HMMPfam_TPR_1,superfamily_ARM repeat,HMMSmart_SM00028,superfamily_TPR-like	p.A198V	ENST00000268876.5	37	c.593	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	C	32	5.177209	0.94846	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.53640	0.61;3.39;0.61;0.67	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.052553	0.85682	D	0.000000	T	0.65943	0.2740	M	0.63843	1.955	0.80722	D	1	D;D;P	0.61697	0.97;0.99;0.773	D;P;P	0.63703	0.917;0.864;0.451	T	0.64782	-0.6326	10	0.51188	T	0.08	-9.2174	18.8468	0.92210	0.0:1.0:0.0:0.0	.	198;198;198	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	198	ENSP00000378071:A198V;ENSP00000268876:A198V;ENSP00000412840:A198V;ENSP00000367710:A198V	ENSP00000268876:A198V	A	+	2	0	UNC45B	30505827	1.000000	0.71417	0.977000	0.42913	0.981000	0.71138	7.818000	0.86416	2.701000	0.92244	0.462000	0.41574	GCT	-	HMMSmart_SM00185,superfamily_ARM repeat		0.602	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	protein_coding	OTTHUMT00000256458.2	C	NM_173167		30505827	1	no_errors	NM_173167.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	33481714	C	T	33481714	3	4	71	1	0	0	0	0	1	0	0	0	16986	797	28	2	611	2	UNC45B	17	33481714	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08		33481714	47713496	17	786											
PKNOX1	5316	genome.wustl.edu	37	21	44448936	44448936	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chr21:44448936G>C	ENST00000291547.5	+	10	1262	c.1051G>C	c.(1051-1053)Gca>Cca	p.A351P	PKNOX1_ENST00000432907.2_Missense_Mutation_p.A234P|PKNOX1_ENST00000607150.1_3'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	351					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						TGATTCTATTGCATCAGGAGT	0.532																																						dbGAP											0			21											71	79	76					21																	44448936		2203	4300	6503	43322005	SO:0001583	missense	0				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"Homeoboxes / TALE class"	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.1051G>C	21.37:g.44448936G>C	ENSP00000291547:p.Ala351Pro	26	0	0		36	35.71	20	43322005	36	52	39	O00528|Q8IWT7	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like	p.A351P	ENST00000291547.5	37	c.1051	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722385	0.89298	.	.	ENSG00000160199	ENST00000291547;ENST00000432907	D;D	0.87650	-2.01;-2.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.92414	0.7592	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.87578	0.772;0.998	D	0.92880	0.6322	10	0.66056	D	0.02	-23.1939	18.8388	0.92174	0.0:0.0:1.0:0.0	.	351;351	P55347;P55347-2	PKNX1_HUMAN;.	P	351;234	ENSP00000291547:A351P;ENSP00000402243:A234P	ENSP00000291547:A351P	A	+	1	0	PKNOX1	43322005	1.000000	0.71417	0.136000	0.22124	0.055000	0.15305	8.831000	0.92068	2.518000	0.84900	0.655000	0.94253	GCA	-	NULL		0.532	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	protein_coding	OTTHUMT00000195520.3	G			43322005	1	no_errors	NM_004571.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	44448936	G	C	44448936	3	2	71	1	0	0	0	0	1	0	0	0	11982	1319	46	4	1085	4	PKNOX1	21	44448936	Missense_Mutation	SNP	G	TCGA-AB-2877-03A-01W-0732-08		44448936	3680959	18	787											
USP11	8237	genome.wustl.edu	37	X	47104803	47104803	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chrX:47104803T>A	ENST00000218348.3	+	17	2321	c.2321T>A	c.(2320-2322)aTg>aAg	p.M774K	USP11_ENST00000377107.2_Missense_Mutation_p.M731K	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	774	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGGTACGTGATGAAGAAGGCT	0.597																																						dbGAP											0			X											67	52	57					X																	47104803		2203	4300	6503	46989747	SO:0001583	missense	0			U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"Ubiquitin-specific peptidases"	12609	protein-coding gene	gene with protein product		300050	"ubiquitin specific protease 11"			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.2321T>A	X.37:g.47104803T>A	ENSP00000218348:p.Met774Lys	58	3.33	2		99	0	0	46989747	82	44.37	67	B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	HMMPfam_UCH,HMMSmart_DUSP,HMMPfam_DUF1055,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001	p.M774K	ENST00000218348.3	37	c.2321	CCDS14277.1	X	.	.	.	.	.	.	.	.	.	.	T	1.026	-0.683451	0.03353	.	.	ENSG00000102226	ENST00000377107;ENST00000218348	T;T	0.18174	2.24;2.23	5.08	5.08	0.68730	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.698156	0.12928	N	0.427597	T	0.06554	0.0168	N	0.01438	-0.865	0.23972	N	0.996306	B;B	0.16396	0.0;0.017	B;B	0.21708	0.0;0.036	T	0.31223	-0.9951	10	0.09084	T	0.74	-5.0223	11.4876	0.50363	0.0:0.0:0.0:1.0	.	500;774	B3KP28;P51784	.;UBP11_HUMAN	K	731;774	ENSP00000366311:M731K;ENSP00000218348:M774K	ENSP00000218348:M774K	M	+	2	0	USP11	46989747	1.000000	0.71417	0.969000	0.41365	0.720000	0.41350	2.270000	0.43355	1.694000	0.51137	0.356000	0.21956	ATG	-	HMMPfam_UCH,superfamily_SSF54001		0.597	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP11	protein_coding		T	NM_004651		46989747	1	no_errors	NM_004651.3	genbank	human	reviewed	54_36p	missense	SNP	0.993	A	A	47104803	T	A	47104803	3	1	71	1	0	0	0	0	1	0	0	0	17039	1464	51	5	2387	5	USP11	23	47104803	Missense_Mutation	SNP	T	TCGA-AB-2877-03A-01W-0732-08		47104803	108165757	19	788											
GPR112	139378	genome.wustl.edu	37	X	135431546	135431546	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2877-03A-01W-0732-08	TCGA-AB-2877-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	166d3943-4006-4434-9af3-4ba8e86b6ac6	a109df8d-1667-48a5-a2bc-91d25851124a	g.chrX:135431546C>T	ENST00000394143.1	+	6	5972	c.5681C>T	c.(5680-5682)cCa>cTa	p.P1894L	GPR112_ENST00000370652.1_Missense_Mutation_p.P1894L|GPR112_ENST00000412101.1_Missense_Mutation_p.P1689L|GPR112_ENST00000287534.4_Missense_Mutation_p.P1831L|GPR112_ENST00000394141.1_Missense_Mutation_p.P1689L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1894					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGTTTCCAATTTCCACC	0.433																																						dbGAP											0			X											129	124	126					X																	135431546		2203	4300	6503	135259212	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"-", "GPCR / Class B : Orphans"	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5681C>T	X.37:g.135431546C>T	ENSP00000377699:p.Pro1894Leu	111	0.88	1					135259212	195	36.98	115	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_ConA_like_lec_gl,PatternScan_G_PROTEIN_RECEP_F2_2	p.P1894L	ENST00000394143.1	37	c.5681	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	10.47	1.359206	0.24598	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.52754	0.69;0.69;0.65;0.73;0.65	3.78	1.86	0.25419	.	.	.	.	.	T	0.50394	0.1613	L	0.29908	0.895	0.09310	N	1	D;D;D	0.89917	0.969;1.0;1.0	P;D;D	0.87578	0.637;0.998;0.994	T	0.28332	-1.0047	9	0.54805	T	0.06	.	4.5912	0.12307	0.2207:0.6466:0.0:0.1327	.	1831;1689;1894	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	1894;1894;1689;1831;1689	ENSP00000377699:P1894L;ENSP00000359686:P1894L;ENSP00000416526:P1689L;ENSP00000287534:P1831L;ENSP00000377697:P1689L	ENSP00000287534:P1831L	P	+	2	0	GPR112	135259212	0.021000	0.18746	0.006000	0.13384	0.314000	0.28054	0.652000	0.24888	0.547000	0.28938	0.530000	0.56133	CCA	-	NULL		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	C			135259212	1	no_errors	NM_153834.3	genbank	human	validated	54_36p	missense	SNP	0.002	T	T	135431546	C	T	135431546	3	4	71	1	0	0	0	0	1	0	0	0	6629	594	21	2	5691	2	GPR112	23	135431546	Missense_Mutation	SNP	C	TCGA-AB-2877-03A-01W-0732-08	88326743	135431546	19839014	20	789											
VPS72	6944	genome.wustl.edu	37	1	151157997	151157997	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr1:151157997C>G	ENST00000354473.4	-	3	406	c.370G>C	c.(370-372)Gat>Cat	p.D124H	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	124					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGCCGTCATCTTGTAGTTCT	0.443																																					Pancreas(109;1131 2287 3209 24201)	dbGAP											0			1											256	249	251					1																	151157997		2203	4300	6503	149424621	SO:0001583	missense	0			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"transcription factor-like 1", "vacuolar protein sorting 72 (yeast)"	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.370G>C	1.37:g.151157997C>G	ENSP00000346464:p.Asp124His	130	0	0		41	45.33	34	149424621	82	48.78	80	A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Missense_Mutation	SNP	HMMPfam_YL1,HMMPfam_YL1_C	p.D124H	ENST00000354473.4	37	c.370	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886697	0.51908	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.74238	0.3690	M	0.81802	2.56	0.58432	D	0.999998	D	0.62365	0.991	D	0.64042	0.921	T	0.72381	-0.4311	9	0.38643	T	0.18	-5.5096	17.2689	0.87095	0.0:1.0:0.0:0.0	.	124	Q15906	VPS72_HUMAN	H	124	.	ENSP00000346464:D124H	D	-	1	0	VPS72	149424621	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	4.229000	0.58625	2.840000	0.97914	0.655000	0.94253	GAT	-	HMMPfam_YL1		0.443	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	protein_coding	OTTHUMT00000034394.3	C	NM_005997		149424621	-1	no_errors	NM_005997.1	genbank	human	provisional	54_36p	missense	SNP	1.000	G	G	151157997	C	G	151157997	3	3	72	1	0	0	0	0	1	0	0	0	17214	913	32	4	740	4	VPS72	1	151157997	Missense_Mutation	SNP	C	TCGA-AB-2878-03A-01W-0732-08		151157997	98092624	1	790											
RIT1	6016	genome.wustl.edu	37	1	155874261	155874261	+	Missense_Mutation	SNP	C	C	T	rs483352822		TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr1:155874261C>T	ENST00000368323.3	-	5	474	c.270G>A	c.(268-270)atG>atA	p.M90I	RIT1_ENST00000368322.3_Missense_Mutation_p.M107I|RIT1_ENST00000539040.1_Missense_Mutation_p.M54I	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	90			M -> I (probable disease-associated mutation found in patients with features of Noonan syndrome). {ECO:0000269|PubMed:23791108}.		GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.M90I(2)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CTCCTGCCCTCATATACTGGT	0.433																																						dbGAP											2	Substitution - Missense(2)	lung(2)	1											97	81	86					1																	155874261		2203	4300	6503	154140885	SO:0001583	missense	0			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"Ric-like, expressed in many tissues", "GTP-binding protein Roc1"	609591	"Ric (Drosophila)-like, expressed in many tissues"	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.270G>A	1.37:g.155874261C>T	ENSP00000357306:p.Met90Ile	70	1.39	1		10	60	15	154140885	162	40	110	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.M90I	ENST00000368323.3	37	c.270	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666051	0.88251	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.76186	-1.0;-1.0;-1.0	5.76	5.76	0.90799	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70527	0.3234	N	0.05619	-0.005	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.77739	-0.2475	10	0.54805	T	0.06	.	19.5715	0.95421	0.0:1.0:0.0:0.0	.	90	Q92963	RIT1_HUMAN	I	90;54;107	ENSP00000357306:M90I;ENSP00000441950:M54I;ENSP00000357305:M107I	ENSP00000357305:M107I	M	-	3	0	RIT1	154140885	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.346000	0.72999	2.733000	0.93635	0.467000	0.42956	ATG	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.433	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	protein_coding	OTTHUMT00000039593.1	C	NM_006912		154140885	-1	no_errors	NM_006912.4	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	155874261	C	T	155874261	3	4	72	1	0	0	0	0	1	0	0	0	13386	826	29	2	397	2	RIT1	1	155874261	Missense_Mutation	SNP	C	TCGA-AB-2878-03A-01W-0732-08	4716264	155874261	93376360	2	791											
CACNA1E	777	genome.wustl.edu	37	1	181727919	181727919	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr1:181727919A>G	ENST00000367573.2	+	32	4520	c.4520A>G	c.(4519-4521)gAg>gGg	p.E1507G	CACNA1E_ENST00000367567.4_Missense_Mutation_p.E1114G|CACNA1E_ENST00000360108.3_Missense_Mutation_p.E1488G|CACNA1E_ENST00000367570.1_Missense_Mutation_p.E1507G|CACNA1E_ENST00000526775.1_Missense_Mutation_p.E1488G|CACNA1E_ENST00000357570.5_Missense_Mutation_p.E1458G|CACNA1E_ENST00000358338.5_Missense_Mutation_p.E1439G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1507					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTACCTATGAGCTGGCCCTG	0.453																																						dbGAP											0			1											251	225	233					1																	181727919		1936	4147	6083	179994542	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4520A>G	1.37:g.181727919A>G	ENSP00000356545:p.Glu1507Gly	320	5.59	19					179994542	207	40.96	145	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.E1507G	ENST00000367573.2	37	c.4520	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	A	32	5.142989	0.94560	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	5.49	5.49	0.81192	.	0.093801	0.64402	D	0.000001	D	0.98229	0.9414	M	0.87269	2.87	0.80722	D	1	P;P;D	0.55605	0.937;0.743;0.972	P;P;P	0.58660	0.843;0.519;0.737	D	0.99113	1.0847	10	0.87932	D	0	.	15.2855	0.73826	1.0:0.0:0.0:0.0	.	1488;1507;1507	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	G	1507;1488;1458;1439;1114;1488;1507	ENSP00000356542:E1507G;ENSP00000434814:E1488G;ENSP00000350183:E1458G;ENSP00000351101:E1439G;ENSP00000356539:E1114G;ENSP00000353222:E1488G;ENSP00000356545:E1507G	ENSP00000350183:E1458G	E	+	2	0	CACNA1E	179994542	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	8.832000	0.92079	2.090000	0.63153	0.459000	0.35465	GAG	-	superfamily_Voltage-gated potassium channels		0.453	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	A	NM_000721		179994542	1	no_errors	NM_000721.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	181727919	A	G	181727919	3	3	72	1	0	0	0	0	1	0	0	0	2542	304	11	3	4646	3	CACNA1E	1	181727919	Missense_Mutation	SNP	A	TCGA-AB-2878-03A-01W-0732-08	25853658	181727919	67522702	3	792											
PTPN14	5784	genome.wustl.edu	37	1	214542946	214542946	+	Missense_Mutation	SNP	G	G	A	rs540376362		TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr1:214542946G>A	ENST00000366956.5	-	17	3319	c.3125C>T	c.(3124-3126)aCg>aTg	p.T1042M	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1042	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCGAAACTTCGTGGTGACCTT	0.483																																					Colon(92;557 1424 24372 34121 40073)	dbGAP											0			1											263	239	247					1																	214542946		2203	4300	6503	212609569	SO:0001583	missense	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3125C>T	1.37:g.214542946G>A	ENSP00000355923:p.Thr1042Met	135	4.26	6					212609569	208	40.06	139	Q5VSI0	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_PTPc,PatternScan_TYR_PHOSPHATASE_1,HMMPfam_FERM_N,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729,superfamily_SSF52799,superfamily_SSF54236	p.T1042M	ENST00000366956.5	37	c.3125	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706978	0.89018	.	.	ENSG00000152104	ENST00000366956	D	0.83837	-1.77	5.51	5.51	0.81932	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	L	0.43923	1.385	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88420	0.3028	10	0.51188	T	0.08	.	19.4235	0.94732	0.0:0.0:1.0:0.0	.	1042	Q15678	PTN14_HUMAN	M	1042	ENSP00000355923:T1042M	ENSP00000355923:T1042M	T	-	2	0	PTPN14	212609569	1.000000	0.71417	0.971000	0.41717	0.982000	0.71751	7.864000	0.87037	2.564000	0.86499	0.650000	0.86243	ACG	-	HMMPfam_Y_phosphatase,HMMSmart_PTPc,superfamily_SSF52799		0.483	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	protein_coding	OTTHUMT00000089918.2	G	NM_005401		212609569	-1	no_errors	NM_005401.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	214542946	G	A	214542946	3	1	72	1	0	0	0	0	1	0	0	0	12783	1145	40	1	450	1	PTPN14	1	214542946	Missense_Mutation	SNP	G	TCGA-AB-2878-03A-01W-0732-08	32815027	214542946	34707675	4	793											
SPDYA	245711	genome.wustl.edu	37	2	29038896	29038896	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr2:29038896A>C	ENST00000334056.5	+	3	205	c.16A>C	c.(16-18)Atg>Ctg	p.M6L	SPDYA_ENST00000379579.4_Missense_Mutation_p.M6L|SPDYA_ENST00000462832.1_3'UTR	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCACAATCAGATGTGTTGTGA	0.348																																						dbGAP											0			2											91	87	89					2																	29038896		2203	4300	6503	28892400	SO:0001583	missense	0			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"Speedy homologs"	30613	protein-coding gene	gene with protein product		614029	"speedy homolog 1 (Drosophila)", "speedy homolog A (Xenopus laevis)"	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.16A>C	2.37:g.29038896A>C	ENSP00000335628:p.Met6Leu	72	0	0		8	50	8	28892400	58	48.21	54		Missense_Mutation	SNP	NULL	p.M6L	ENST00000334056.5	37	c.16	CCDS1767.2	2	.	.	.	.	.	.	.	.	.	.	A	1.862	-0.462353	0.04508	.	.	ENSG00000163806	ENST00000379579;ENST00000334056;ENST00000449210	.	.	.	5.04	2.84	0.33178	.	0.772320	0.11365	N	0.571498	T	0.13500	0.0327	N	0.03608	-0.345	0.24888	N	0.992189	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30937	-0.9961	9	0.02654	T	1	-1.9819	7.4516	0.27242	0.5372:0.3729:0.0899:0.0	.	6;6	Q5MJ70;Q5MJ70-1	SPDYA_HUMAN;.	L	6	.	ENSP00000335628:M6L	M	+	1	0	SPDYA	28892400	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.207000	0.32333	0.452000	0.26830	-0.291000	0.09656	ATG	-	NULL		0.348	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYA	protein_coding	OTTHUMT00000157171.1	A	NM_182756		28892400	1	no_errors	NM_182756.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	29038896	A	C	29038896	3	2	72	1	0	0	0	0	1	0	0	0	15026	333	12	5	18	5	SPDYA	2	29038896	Missense_Mutation	SNP	A	TCGA-AB-2878-03A-01W-0732-08		29038896	214160477	5	794											
STT3B	201595	genome.wustl.edu	37	3	31617953	31617953	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr3:31617953A>G	ENST00000295770.2	+	2	589	c.380A>G	c.(379-381)gAt>gGt	p.D127G	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	127					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AATTGGTTTGATGAAAGAGCA	0.289																																						dbGAP											0			3											112	118	116					3																	31617953		2203	4297	6500	31592957	SO:0001583	missense	0			AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"source of immunodominant MHC associated peptides", "dolichyl-diphosphooligosaccharide protein glycotransferase"	608605	"STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.380A>G	3.37:g.31617953A>G	ENSP00000295770:p.Asp127Gly	110	4.35	5		101	43.58	78	31592957	254	37.28	151	Q96JZ4|Q96KY7	Missense_Mutation	SNP	HMMPfam_STT3	p.D127G	ENST00000295770.2	37	c.380	CCDS2650.1	3	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811219	0.90707	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.87625	0.6224	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91563	0.5266	9	0.87932	D	0	-18.1112	15.8776	0.79178	1.0:0.0:0.0:0.0	.	127	Q8TCJ2	STT3B_HUMAN	G	127	.	ENSP00000295770:D127G	D	+	2	0	STT3B	31592957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.146000	0.66826	0.482000	0.46254	GAT	-	HMMPfam_STT3		0.289	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STT3B	protein_coding	OTTHUMT00000253166.2	A	NM_178862		31592957	1	no_errors	NM_178862.1	genbank	human	provisional	54_36p	missense	SNP	1.000	G	G	31617953	A	G	31617953	3	3	72	1	0	0	0	0	1	0	0	0	15333	333	12	3	386	3	STT3B	3	31617953	Missense_Mutation	SNP	A	TCGA-AB-2878-03A-01W-0732-08		31617953	166404477	6	795											
NR2E1	7101	genome.wustl.edu	37	6	108499328	108499328	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr6:108499328G>A	ENST00000368986.4	+	5	1233	c.525G>A	c.(523-525)atG>atA	p.M175I	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.M212I	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	175					aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGACCCCAATGTATCTCTATG	0.498																																						dbGAP											0			6											109	101	104					6																	108499328		2203	4300	6503	108606021	SO:0001583	missense	0			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.525G>A	6.37:g.108499328G>A	ENSP00000357982:p.Met175Ile	121	0	0					108606021	56	35.23	31	Q6ZMP8	Missense_Mutation	SNP	HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.M175I	ENST00000368986.4	37	c.525	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780984	0.49891	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.90955	-2.75;-2.76	5.6	5.6	0.85130	Nuclear hormone receptor, ligand-binding (2);	0.222165	0.53938	D	0.000048	T	0.70081	0.3183	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.66705	-0.5856	10	0.21540	T	0.41	.	17.4002	0.87458	0.0:0.0:1.0:0.0	.	175	Q9Y466	NR2E1_HUMAN	I	175;212	ENSP00000357982:M175I;ENSP00000357979:M212I	ENSP00000357979:M212I	M	+	3	0	NR2E1	108606021	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.198000	0.72106	2.642000	0.89623	0.650000	0.86243	ATG	-	superfamily_Nuclear receptor ligand-binding domain		0.498	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	protein_coding	OTTHUMT00000041712.2	G			108606021	1	no_errors	NM_003269.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	108499328	G	A	108499328	3	1	72	1	0	0	0	0	1	0	0	0	10625	1377	48	2	543	2	NR2E1	6	108499328	Missense_Mutation	SNP	G	TCGA-AB-2878-03A-01W-0732-08		108499328	62615739	7	796											
EGFR	1956	genome.wustl.edu	37	7	55238900	55238900	+	Missense_Mutation	SNP	C	C	T	rs571064657		TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr7:55238900C>T	ENST00000275493.2	+	16	2090	c.1913C>T	c.(1912-1914)aCg>aTg	p.T638M	EGFR_ENST00000442591.1_Missense_Mutation_p.T638M|EGFR_ENST00000455089.1_Missense_Mutation_p.T593M|EGFR_ENST00000454757.2_Missense_Mutation_p.T585M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	638					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGCTGTCCAACGAATGGGTAA	0.438		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C|||	1	0.000199681	0	0	5008	,	,		21342	0.001		0	False		,,,				2504	0					dbGAP	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"		"E, O"	0			7											140	122	128					7																	55238900		2203	4300	6503	55206394	SO:0001583	missense	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"	131550	"epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1913C>T	7.37:g.55238900C>T	ENSP00000275493:p.Thr638Met	172	1.71	3					55206394	145	42.69	108	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	HMMPfam_Recep_L_domain,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Furin-like,HMMSmart_SM00261,PatternScan_PROTEIN_KINASE_TYR,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,superfamily_L domain-like	p.T638M	ENST00000275493.2	37	c.1913	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	1.735	-0.493192	0.04322	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T	0.79749	-0.9;-0.9;-1.3;-0.89	5.33	-10.7	0.00240	Growth factor, receptor (1);	6.705310	0.00639	N	0.000504	T	0.67258	0.2874	L	0.43598	1.365	0.09310	N	1	B;B	0.17667	0.023;0.0	B;B	0.12156	0.007;0.001	T	0.54912	-0.8222	10	0.40728	T	0.16	.	1.5853	0.02643	0.1875:0.173:0.2244:0.415	.	593;638	Q504U8;P00533	.;EGFR_HUMAN	M	593;508;638;638;585;432	ENSP00000415559:T593M;ENSP00000275493:T638M;ENSP00000410031:T638M;ENSP00000395243:T585M	ENSP00000275493:T638M	T	+	2	0	EGFR	55206394	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.061000	0.00025	-6.510000	0.00004	-3.373000	0.00041	ACG	-	NULL		0.438	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55206394	1	no_errors	NM_005228.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	55238900	C	T	55238900	3	4	72	1	0	0	0	0	1	0	0	0	4967	536	19	1	2239	1	EGFR	7	55238900	Missense_Mutation	SNP	C	TCGA-AB-2878-03A-01W-0732-08		55238900	103899763	8	797											
CHD4	1108	genome.wustl.edu	37	12	6697064	6697064	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr12:6697064G>A	ENST00000357008.2	-	24	3680	c.3517C>T	c.(3517-3519)Cgg>Tgg	p.R1173W	CHD4_ENST00000544040.1_Missense_Mutation_p.R1166W|CHD4_ENST00000544484.1_Missense_Mutation_p.R1170W|CHD4_ENST00000309577.6_Missense_Mutation_p.R1173W|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1173	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GTCACAAACCGGTAGATCATT	0.507																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0			12											83	79	80					12																	6697064		2203	4300	6503	6567325	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.3517C>T	12.37:g.6697064G>A	ENSP00000349508:p.Arg1173Trp	91	0	0		77	48.67	73	6567325	186	32.26	90	Q8IXZ5	Missense_Mutation	SNP	HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMSmart_SM00249,PatternScan_DEAH_ATP_HELICASE,HMMPfam_DUF1086,HMMPfam_DUF1087,superfamily_FYVE/PHD zinc finger,HMMPfam_CHDCT2,HMMPfam_CHDNT,HMMSmart_SM00487,superfamily_Chromo domain-like,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R1173W	ENST00000357008.2	37	c.3517	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875697	0.72180	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.91	5.01	0.66863	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	H	0.96604	3.85	0.80722	D	1	D;D;D	0.76494	0.998;0.989;0.999	P;P;D	0.64687	0.847;0.656;0.928	D	0.99466	1.0944	10	0.87932	D	0	.	16.5124	0.84289	0.0:0.0:0.8681:0.1319	.	1173;1173;1166	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	W	1170;1166;1173;1173;1147	ENSP00000440392:R1170W;ENSP00000440542:R1166W;ENSP00000312419:R1173W;ENSP00000349508:R1173W	ENSP00000312419:R1173W	R	-	1	2	CHD4	6567325	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	9.817000	0.99352	1.490000	0.48466	0.543000	0.68304	CGG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.507	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	protein_coding		G	NM_001273		6567325	-1	no_errors	NM_001273.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	6697064	G	A	6697064	3	1	72	1	0	0	0	0	1	0	0	0	3327	1115	39	1	2289	1	CHD4	12	6697064	Missense_Mutation	SNP	G	TCGA-AB-2878-03A-01W-0732-08		6697064	127154831	9	798											
SERPINA9	327657	genome.wustl.edu	37	14	94933658	94933658	+	Silent	SNP	G	G	A			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr14:94933658G>A	ENST00000380365.3	-	3	768	c.690C>T	c.(688-690)ggC>ggT	p.G230G	SERPINA9_ENST00000298845.7_Silent_p.G148G|SERPINA9_ENST00000337425.5_Silent_p.G248G|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000546329.1_Silent_p.G212G|SERPINA9_ENST00000424550.2_Silent_p.G99G|SERPINA9_ENST00000448305.2_Silent_p.G150G|SERPINA9_ENST00000539349.1_5'Flank			Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	230					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGACCTGCTCGCCCACCAGGA	0.473																																						dbGAP											0			14											69	67	68					14																	94933658		1970	4165	6135	94003411	SO:0001819	synonymous_variant	0			AY185497	CCDS41982.1, CCDS41983.1, CCDS61542.1	14q32.1	2014-02-18	2005-08-18		ENSG00000170054	ENSG00000170054		"Serine (or cysteine) peptidase inhibitors"	15995	protein-coding gene	gene with protein product		615677	"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9"			24172014	Standard	NM_175739		Approved	CENTERIN, SERPINA11b, GCET1	uc001ydf.3	Q86WD7	OTTHUMG00000167710	ENST00000380365.3:c.690C>T	14.37:g.94933658G>A		342	0.58	2					94003411	192	41.84	141	B4DVH4|B9ZVX3|Q2T9J2|Q6UWP9|Q86WD4|Q86WD5|Q86WD6|Q86YP6|Q86YP7	Silent	SNP	HMMPfam_Serpin,HMMSmart_SM00093,PatternScan_SERPIN,superfamily_Serpins	p.G248	ENST00000380365.3	37	c.744		14																																																																																			-	HMMPfam_Serpin,HMMSmart_SM00093,superfamily_Serpins		0.473	SERPINA9-008	KNOWN	basic|appris_principal	protein_coding	SERPINA9	protein_coding	OTTHUMT00000395803.2	G	NM_175739		94003411	-1	no_errors	NM_175739.1	genbank	human	validated	54_36p	silent	SNP	0.333	A	A	94933658	G	A	94933658	2	1	72	1	0	0	0	0	0	0	0	1	14095	1074	38	1		1	SERPINA9	14	94933658	Silent	SNP	G	TCGA-AB-2878-03A-01W-0732-08		94933658	12415882	10	799											
FBN1	2200	genome.wustl.edu	37	15	48789466	48789466	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr15:48789466C>T	ENST00000316623.5	-	19	2745	c.2290G>A	c.(2290-2292)Gtt>Att	p.V764I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	764	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCTCACCAACGCAGTTTTTC	0.403																																						dbGAP											0			15											130	121	124					15																	48789466		2197	4296	6493	46576758	SO:0001583	missense	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"Marfan syndrome"	134797	"fibrillin 1 (Marfan syndrome)"	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.2290G>A	15.37:g.48789466C>T	ENSP00000325527:p.Val764Ile	79	4.82	4		7	36.36	4	46576758	126	34.69	68	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.V764I	ENST00000316623.5	37	c.2290	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	6.375	0.437227	0.12104	.	.	ENSG00000166147	ENST00000316623	D	0.87256	-2.23	5.66	4.74	0.60224	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.189749	0.46758	D	0.000280	T	0.69663	0.3136	N	0.04275	-0.24	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.64630	-0.6362	10	0.15066	T	0.55	.	9.978	0.41795	0.0:0.8573:0.0:0.1427	.	764	P35555	FBN1_HUMAN	I	764	ENSP00000325527:V764I	ENSP00000325527:V764I	V	-	1	0	FBN1	46576758	0.585000	0.26774	1.000000	0.80357	0.558000	0.35554	0.265000	0.18515	2.645000	0.89757	0.650000	0.86243	GTT	-	HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_EGF/Laminin		0.403	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	protein_coding	OTTHUMT00000417355.1	C			46576758	-1	no_errors	NM_000138.3	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	48789466	C	T	48789466	3	4	72	1	0	0	0	0	1	0	0	0	5702	536	19	1	6517	1	FBN1	15	48789466	Missense_Mutation	SNP	C	TCGA-AB-2878-03A-01W-0732-08		48789466	53741926	11	800											
TP53	7157	genome.wustl.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr17:7578206T>C	ENST00000269305.4	-	6	832	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000420246.2_Missense_Mutation_p.S215G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACCACCACACTATGTCGAAAA	0.537		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	43	Substitution - Missense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - deletion inframe(1)	ovary(6)|biliary_tract(5)|bone(5)|stomach(4)|oesophagus(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|urinary_tract(1)|liver(1)|skin(1)	17											125	112	116					17																	7578206		2203	4300	6503	7518931	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.643A>G	17.37:g.7578206T>C	ENSP00000269305:p.Ser215Gly	220	8.33	20		10	84.85	56	7518931	216	43.81	170	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.S215G	ENST00000269305.4	37	c.643	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274381	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.28	4.18	0.49190	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90705	3.14	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;0.98;0.996;1.0;1.0;0.999	D	0.97163	0.9839	10	0.87932	D	0	-18.3023	10.6958	0.45899	0.0:0.0:0.1605:0.8394	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215G;ENSP00000352610:S215G;ENSP00000269305:S215G;ENSP00000398846:S215G;ENSP00000391127:S215G;ENSP00000391478:S215G;ENSP00000425104:S83G;ENSP00000423862:S122G	ENSP00000269305:S215G	S	-	1	0	TP53	7518931	1.000000	0.71417	0.471000	0.27229	0.962000	0.63368	6.146000	0.71777	0.919000	0.36945	0.460000	0.39030	AGT	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7518931	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	7578206	T	C	7578206	3	2	72	1	0	0	0	0	1	0	0	0	16378	1522	53	3	651	3	TP53	17	7578206	Missense_Mutation	SNP	T	TCGA-AB-2878-03A-01W-0732-08		7578206	73617004	12	801			1	1		2	2	209	N	T_A	8.734381e-05
TP53	7157	genome.wustl.edu	37	17	7578414	7578414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AB-2878-03A-01W-0732-08	TCGA-AB-2878-11A-01W-0732-08	A	A	A	-	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ee2992c1-67ba-4d9d-8305-1fc0e3b99abc	d450eac4-a4b6-4d7f-8c98-d063c2a5f45c	g.chr17:7578414delA	ENST00000269305.4	-	5	705	c.516delT	c.(514-516)gttfs	p.V173fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.V173fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.V173fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.V173fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V173fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.V173fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.V172V(4)|p.V173fs*59(2)|p.V157_C176del20(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.V173fs*8(1)|p.V172_E180delVVRRCPHHE(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCGCCTCACAACCTCCGTCA	0.662		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	26	Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Substitution - coding silent(4)|Insertion - Frameshift(1)	large_intestine(5)|bone(4)|stomach(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|oesophagus(2)|liver(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|autonomic_ganglia(1)	17											51	51	51					17																	7578414		2203	4300	6503	7519139	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.516delT	17.37:g.7578414delA	ENSP00000269305:p.Val173fs	188	1.57	3		15	0	0	7519139	136	40.51	96	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.V173fs	ENST00000269305.4	37	c.516	CCDS11118.1	17																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_P53		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7519139	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.952	-	-	7578414	A	-	7578414	7	5	72	1	0	1	0	1	0	0	0	0	16378	117	5	0	782	0	TP53	17	7578414	Frame_Shift_Del	DEL	A	TCGA-AB-2878-03A-01W-0732-08	208	7578414	73616796	13	802			1	1		2	2	209	N	T_A	8.734381e-05
TET2	54790	genome.wustl.edu	37	4	106155921	106155921	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2879-03A-01W-0732-08	TCGA-AB-2879-11A-01W-0732-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8e05d5a-f2b4-4023-b0d5-548df03a1921	d48634c4-b8d4-4fe7-b5a1-428c3682337f	g.chr4:106155921delC	ENST00000540549.1	+	3	1682	c.822delC	c.(820-822)atcfs	p.I274fs	TET2_ENST00000513237.1_Frame_Shift_Del_p.I295fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.I274fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.I274fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.I274fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.I274fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.I274fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	274					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.N275fs*18(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAGGGCAGATCAATTCCGCAC	0.493			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)	4											89	81	84					4																	106155921		2203	4300	6503	106375370	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.822delC	4.37:g.106155921delC	ENSP00000442788:p.Ile274fs	217	15.09	40		27	49.18	30	106375370	167	38.05	113	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.N275fs	ENST00000540549.1	37	c.822	CCDS47120.1	4																																																																																			-	NULL		0.493	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106375370	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	frame_shift_del	DEL	0.379	-	-	106155921	C	-	106155921	7	5	73	1	0	1	0	1	0	0	0	0	15767	816	29	0	824	0	TET2	4	106155921	Frame_Shift_Del	DEL	C	TCGA-AB-2879-03A-01W-0732-08		106155921	84998355	1	803											
TET2	54790	genome.wustl.edu	37	4	106164778	106164778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2879-03A-01W-0732-08	TCGA-AB-2879-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8e05d5a-f2b4-4023-b0d5-548df03a1921	d48634c4-b8d4-4fe7-b5a1-428c3682337f	g.chr4:106164778C>T	ENST00000540549.1	+	6	4506	c.3646C>T	c.(3646-3648)Cga>Tga	p.R1216*	TET2_ENST00000513237.1_Nonsense_Mutation_p.R1237*|TET2_ENST00000545826.1_Silent_p.S1185S|TET2_ENST00000380013.4_Nonsense_Mutation_p.R1216*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1216					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGTGCGGGAGCGAGCTGGCCA	0.557			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4											179	172	174					4																	106164778		692	1591	2283	106384227	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3646C>T	4.37:g.106164778C>T	ENSP00000442788:p.Arg1216*	130	12.58	19		24	50	24	106384227	96	46.74	86	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.R18*	ENST00000540549.1	37	c.52	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	47	13.282312	0.99732	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	.	.	.	5.5	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7953	0.69873	0.2633:0.7367:0.0:0.0	.	.	.	.	X	1216;1237;1216	.	ENSP00000369351:R1216X	R	+	1	2	TET2	106384227	1.000000	0.71417	0.947000	0.38551	0.302000	0.27658	3.037000	0.49775	0.668000	0.31126	-0.953000	0.02652	CGA	-	NULL		0.557	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106384227	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	nonsense	SNP	1.000	T	T	106164778	C	T	106164778	4	4	73	1	0	0	0	0	0	1	0	0	15767	760	27	1	3749	1	TET2	4	106164778	Nonsense_Mutation	SNP	C	TCGA-AB-2879-03A-01W-0732-08	8857	106164778	84989498	2	804											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2879-03A-01W-0732-08	TCGA-AB-2879-11A-01W-0732-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8e05d5a-f2b4-4023-b0d5-548df03a1921	d48634c4-b8d4-4fe7-b5a1-428c3682337f	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	73	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2879-03A-01W-0732-08		170837547	10077713	3	805											
TRPM3	80036	genome.wustl.edu	37	9	73218311	73218311	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2879-03A-01W-0732-08	TCGA-AB-2879-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8e05d5a-f2b4-4023-b0d5-548df03a1921	d48634c4-b8d4-4fe7-b5a1-428c3682337f	g.chr9:73218311C>T	ENST00000377111.2	-	19	2950	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	TRPM3_ENST00000358082.3_Missense_Mutation_p.E765K|TRPM3_ENST00000396280.5_Missense_Mutation_p.E752K|TRPM3_ENST00000408909.2_Missense_Mutation_p.E762K|TRPM3_ENST00000377110.3_Missense_Mutation_p.E903K|TRPM3_ENST00000357533.2_Missense_Mutation_p.E907K|TRPM3_ENST00000396285.1_Missense_Mutation_p.E750K|TRPM3_ENST00000423814.3_Missense_Mutation_p.E930K|TRPM3_ENST00000377106.1_Missense_Mutation_p.E775K|TRPM3_ENST00000360823.2_Missense_Mutation_p.E765K|TRPM3_ENST00000396292.4_Missense_Mutation_p.E775K|TRPM3_ENST00000377105.1_Missense_Mutation_p.E762K	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	928					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACGATCCATTCCTGGGTGGAC	0.428																																						dbGAP											0			9											98	88	92					9																	73218311		2203	4300	6503	72408131	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2707G>A	9.37:g.73218311C>T	ENSP00000366315:p.Glu903Lys	228	9.09	23					72408131	219	41.86	162	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	HMMPfam_Ion_trans	p.E903K	ENST00000377111.2	37	c.2707		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.702406|5.702406	0.96812|0.96812	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.70282|.	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84092|0.84092	0.5396|0.5396	M|M	0.87269|0.87269	2.87|2.87	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;0.989;0.998;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.91635|.	0.994;0.988;0.998;0.987;0.987;0.999;0.996;0.997|.	D|D	0.85575|0.85575	0.1236|0.1236	10|5	0.87932|.	D|.	0|.	-20.9712|-20.9712	19.6085|19.6085	0.95589|0.95589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	903;903;893;907;765;762;875;750|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	K|E	903;903;775;765;762;907;762;750;775;765;930|751	ENSP00000366315:E903K;ENSP00000366314:E903K;ENSP00000366310:E775K;ENSP00000354066:E765K;ENSP00000366309:E762K;ENSP00000350140:E907K;ENSP00000386127:E762K;ENSP00000379581:E750K;ENSP00000379587:E775K;ENSP00000350791:E765K;ENSP00000389542:E930K|.	ENSP00000350140:E907K|.	E|G	-|-	1|2	0|0	TRPM3|TRPM3	72408131|72408131	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.790000|7.790000	0.85794|0.85794	2.629000|2.629000	0.89072|0.89072	0.637000|0.637000	0.83480|0.83480	GAA|GGA	-	NULL		0.428	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	protein_coding	OTTHUMT00000214157.5	C	NM_206945		72408131	-1	no_errors	NM_001007471.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	73218311	C	T	73218311	3	4	73	1	0	0	0	0	1	0	0	0	16584	864	30	2	2444	2	TRPM3	9	73218311	Missense_Mutation	SNP	C	TCGA-AB-2879-03A-01W-0732-08		73218311	67995120	4	806											
FLT3	2322	genome.wustl.edu	37	13	28608250	28608251	+	In_Frame_Ins	INS	-	-	TTGAGATCATATTCATATTCTCTGAAATCAACG			TCGA-AB-2879-03A-01W-0732-08	TCGA-AB-2879-11A-01W-0732-08	-	-	-	TTGAGATCATATTCATATTCTCTGAAATCAACG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f8e05d5a-f2b4-4023-b0d5-548df03a1921	d48634c4-b8d4-4fe7-b5a1-428c3682337f	g.chr13:28608250_28608251insTTGAGATCATATTCATATTCTCTGAAATCAACG	ENST00000241453.7	-	14	1886_1887	c.1805_1806insCGTTGATTTCAGAGAATATGAATATGATCTCAA	c.(1804-1806)aaa>aaCGTTGATTTCAGAGAATATGAATATGATCTCAAa	p.601_602insNVDFREYEYDL	FLT3_ENST00000537084.1_In_Frame_Ins_p.601_602insNVDFREYEYDL|FLT3_ENST00000380982.4_In_Frame_Ins_p.601_602insNVDFREYEYDL	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	601					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.602_603>GSSDNEYFYVDFREYEYDLT(1)|p.L601_K602insIREYEYDL(1)|p.601_602>NPDNEYFYVDFREYEYDL(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAACTCCCATTTGAGATCATA	0.371			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	3	Complex - insertion inframe(2)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(3)	13																																								27506251	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1773_1805dupCGTTGATTTCAGAGAATATGAATATGATCTCAA	13.37:g.28608250_28608251insTTGAGATCATATTCATATTCTCTGAAATCAACG	ENSP00000241453:p.Leu601_Lys602insAsnValAspPheArgGluTyrGluTyrAspLeu								27506250				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.602in_frame_insNVDFREYEYDL	ENST00000241453.7	37	c.1806_1805	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.371	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506251	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.998:1.000	TTGAGATCATATTCATATTCTCTGAAATCAACG	TTGAGATCATATTCATATTCTCTGAAATCAACG	28608251	-	TTGAGATCATATTCATATTCTCTGAAATCAACG	28608250	7	5	73	1	0	1	1	0	0	0	0	0	5942	1490	52	0	1219	0	FLT3	13	28608250	In_Frame_Ins	INS	-	TCGA-AB-2879-03A-01W-0732-08		28608250	86561628	5	807											
FLT3	2322	genome.wustl.edu	37	13	28608251	28608252	+	In_Frame_Ins	INS	-	-	TGAGATCATATTCATATTCTC			TCGA-AB-2880-03A-01W-0732-08	TCGA-AB-2880-11A-01W-0732-08	-	-	-	TGAGATCATATTCATATTCTC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	884d69a4-39c7-4b83-86a0-f55e3086562a	3e194bbc-26f5-4da9-a975-88ed4ed036d8	g.chr13:28608251_28608252insTGAGATCATATTCATATTCTC	ENST00000241453.7	-	14	1885_1886	c.1804_1805insGAGAATATGAATATGATCTCA	c.(1804-1806)aaa>aGAGAATATGAATATGATCTCAaa	p.601_602insREYEYDL	FLT3_ENST00000380982.4_In_Frame_Ins_p.601_602insREYEYDL|FLT3_ENST00000537084.1_In_Frame_Ins_p.601_602insREYEYDL	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	601					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L601_K602ins27(4)|p.601_602>NPDNEYFYVDFREYEYDL(1)|p.L601_K602insIREYEYDL(1)|p.L601_K602ins21(1)|p.L601_K602insREYEYDL(1)|p.L601_K602ins24(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAACTCCCATTTGAGATCATAT	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	9	Insertion - In frame(8)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(9)	13																																								27506252	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1784_1804dupGAGAATATGAATATGATCTCA	13.37:g.28608251_28608252insTGAGATCATATTCATATTCTC	ENSP00000241453:p.Arg595_Leu601dup								27506251				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.602in_frame_insREYEYDL	ENST00000241453.7	37	c.1805_1804	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506252	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	TGAGATCATATTCATATTCTC	TGAGATCATATTCATATTCTC	28608252	-	TGAGATCATATTCATATTCTC	28608251	7	5	74	1	0	1	1	0	0	0	0	0	5942	1841	64	0	1220	0	FLT3	13	28608251	In_Frame_Ins	INS	-	TCGA-AB-2880-03A-01W-0732-08		28608251	86561627	1	808											
RHBDF2	79651	genome.wustl.edu	37	17	74467769	74467769	+	Silent	SNP	G	G	A			TCGA-AB-2880-03A-01W-0732-08	TCGA-AB-2880-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	884d69a4-39c7-4b83-86a0-f55e3086562a	3e194bbc-26f5-4da9-a975-88ed4ed036d8	g.chr17:74467769G>A	ENST00000313080.4	-	19	2790	c.2517C>T	c.(2515-2517)ttC>ttT	p.F839F	RHBDF2_ENST00000389760.4_Silent_p.F810F|RHBDF2_ENST00000591885.1_Silent_p.F810F	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	839					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGTGAAGGGGAAGCAGGTGA	0.632																																						dbGAP											0			17											30	24	26					17																	74467769		2203	4300	6503	71979364	SO:0001819	synonymous_variant	0			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"rhomboid, veinlet-like 6 (Drosophila)", "tylosis with oesophageal cancer"	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.2517C>T	17.37:g.74467769G>A		47	6	3		46	14.81	8	71979364	40	18.37	9	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	HMMPfam_Rhomboid	p.F839	ENST00000313080.4	37	c.2517	CCDS32743.1	17																																																																																			-	NULL		0.632	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	protein_coding	OTTHUMT00000450134.1	G	NM_024599		71979364	-1	no_errors	NM_024599.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	74467769	G	A	74467769	2	1	74	1	0	0	0	0	0	0	0	1	13320	1165	41	2		2	RHBDF2	17	74467769	Silent	SNP	G	TCGA-AB-2880-03A-01W-0732-08		74467769	6727441	2	809											
CEBPA	1050	genome.wustl.edu	37	19	33792991	33792992	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AB-2880-03A-01W-0732-08	TCGA-AB-2880-11A-01W-0732-08	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	884d69a4-39c7-4b83-86a0-f55e3086562a	3e194bbc-26f5-4da9-a975-88ed4ed036d8	g.chr19:33792991_33792992insC	ENST00000498907.2	-	1	478_479	c.329_330insG	c.(328-330)ggcfs	p.G110fs	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	110					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q87fs*32(2)|p.G110fs*48(2)|p.A111fs*56(1)|p.Y7_G130del(1)|p.L78_A174del(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ccgcgggcgcgcccgggTAGTC	0.802			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	7	Deletion - Frameshift(5)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(7)	19																																								38484832	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.330dupG	19.37:g.33792994_33792994dupC	ENSP00000427514:p.Gly110fs	0	0	0		32	44.83	26	38484831	0	0	0	A7LNP2|P78319|Q05CA4	Frame_Shift_Ins	INS	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.A111fs	ENST00000498907.2	37	c.330_329	CCDS54243.1	19																																																																																			-	NULL		0.802	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	-	NM_004364		38484832	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.915:0.950	C	C	33792992	-	C	33792991	7	5	74	1	0	1	1	0	0	0	0	0	3199	1074	38	0	750	0	CEBPA	19	33792991	Frame_Shift_Ins	INS	-	TCGA-AB-2880-03A-01W-0732-08		33792991	25335992	3	810											
ITGB5	3693	genome.wustl.edu	37	3	124527914	124527914	+	Silent	SNP	G	G	A			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr3:124527914G>A	ENST00000296181.4	-	9	1514	c.1218C>T	c.(1216-1218)tcC>tcT	p.S406S		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	406					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GACCAGGATAGGATACCCCAT	0.468																																						dbGAP											0			3											137	135	136					3																	124527914		2203	4300	6503	126010604	SO:0001819	synonymous_variant	0			J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"Integrins"	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.1218C>T	3.37:g.124527914G>A		131	5.63	8		6	50	6	126010604	125	39.61	82	B0LPF8|B2RD70	Silent	SNP	HMMSmart_VWA,HMMPfam_Integrin_beta,HMMSmart_INB,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Integrin_B_tail,superfamily_Integrin_bsu_tail,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,HMMPfam_Integrin_b_cyt,PatternScan_INTEGRIN_BETA,superfamily_SSF53300,superfamily_SSF57196,superfamily_SSF69179	p.S406	ENST00000296181.4	37	c.1218	CCDS3030.1	3																																																																																			-	HMMPfam_Integrin_beta,HMMSmart_INB,superfamily_SSF69179		0.468	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB5	protein_coding	OTTHUMT00000355286.3	G	NM_002213		126010604	-1	no_errors	NM_002213.3	genbank	human	provisional	54_36p	silent	SNP	1.000	A	A	124527914	G	A	124527914	2	1	75	1	0	0	0	0	0	0	0	1	7898	987	35	2		2	ITGB5	3	124527914	Silent	SNP	G	TCGA-AB-2881-03A-01W-0732-08		124527914	73494516	1	811											
LRRC15	131578	genome.wustl.edu	37	3	194080335	194080335	+	Missense_Mutation	SNP	C	C	T	rs138851418		TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr3:194080335C>T	ENST00000347624.3	-	2	1523	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	LRRC15_ENST00000428839.1_Missense_Mutation_p.E486K|LRRC15_ENST00000439944.2_Missense_Mutation_p.E486K	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	480					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTAGGCACCTCGGGGACATGG	0.542													C|||	1	0.000199681	8e-04	0	5008	,	,		22285	0		0	False		,,,				2504	0					dbGAP											0			3						C	LYS/GLU,LYS/GLU	8,4398	14.3+/-33.2	0,8,2195	148	136	140		1456,1438	0.6	0	3	dbSNP_134	140	0,8600		0,0,4300	yes	missense,missense	LRRC15	NM_001135057.2,NM_130830.4	56,56	0,8,6495	TT,TC,CC		0.0,0.1816,0.0615	possibly-damaging,possibly-damaging	486/588,480/582	194080335	8,12998	2203	4300	6503	195561630	SO:0001583	missense	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1438G>A	3.37:g.194080335C>T	ENSP00000306276:p.Glu480Lys	156	2.48	4					195561630	170	21.92	48	Q495Q6|Q7RTN7	Missense_Mutation	SNP	HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058	p.E480K	ENST00000347624.3	37	c.1438	CCDS3306.1	3	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	4.066	0.009965	0.07912	0.001816	0.0	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.56776	0.44;0.48;0.48	4.84	0.584	0.17422	.	0.707233	0.13279	N	0.399936	T	0.30417	0.0764	N	0.14661	0.345	0.09310	N	0.999998	B;B	0.15141	0.007;0.012	B;B	0.08055	0.001;0.003	T	0.19031	-1.0318	10	0.16896	T	0.51	.	9.7338	0.40376	0.0:0.3623:0.5507:0.087	.	480;486	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	K	480;486;486	ENSP00000306276:E480K;ENSP00000389128:E486K;ENSP00000413707:E486K	ENSP00000306276:E480K	E	-	1	0	LRRC15	195561630	0.000000	0.05858	0.008000	0.14137	0.110000	0.19582	-0.431000	0.06965	0.300000	0.22699	0.655000	0.94253	GAG	-	NULL		0.542	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	protein_coding	OTTHUMT00000342858.2	C			195561630	-1	no_errors	NM_130830.1	genbank	human	validated	54_36p	missense	SNP	0.003	T	T	194080335	C	T	194080335	3	4	75	1	0	0	0	0	1	0	0	0	8970	893	31	1	311	1	LRRC15	3	194080335	Missense_Mutation	SNP	C	TCGA-AB-2881-03A-01W-0732-08	69552421	194080335	3942095	2	812											
KIT	3815	genome.wustl.edu	37	4	55599320	55599320	+	Missense_Mutation	SNP	G	G	T	rs121913506		TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr4:55599320G>T	ENST00000288135.5	+	17	2543	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCTAGCCAGAGACATCAAGAA	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	4											144	146	145					4																	55599320		2203	4300	6503	55294077	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2446G>T	4.37:g.55599320G>T	ENSP00000288135:p.Asp816Tyr	53	3.64	2		172	29.22	71	55294077	111	26.32	40	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D816Y	ENST00000288135.5	37	c.2446	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976091	0.92982	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.87869	0.6286	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.65684	0.937;0.919	D	0.88642	0.3176	10	0.87932	D	0	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	Y	816;812	ENSP00000288135:D816Y;ENSP00000390987:D812Y	ENSP00000288135:D816Y	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	G			55294077	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	55599320	G	T	55599320	3	4	75	1	0	0	0	0	1	0	0	0	8329	942	33	4	2512	4	KIT	4	55599320	Missense_Mutation	SNP	G	TCGA-AB-2881-03A-01W-0732-08		55599320	135554956	3	813											
KLHL2	11275	genome.wustl.edu	37	4	166235192	166235192	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr4:166235192A>T	ENST00000226725.6	+	13	1742	c.1483A>T	c.(1483-1485)Aac>Tac	p.N495Y	KLHL2_ENST00000538127.1_Missense_Mutation_p.N407Y|KLHL2_ENST00000506761.1_Missense_Mutation_p.N329Y|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.N499Y|KLHL2_ENST00000421009.2_Missense_Mutation_p.N398Y	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	495					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TGGTGTGTTAAACAATTTATT	0.363																																						dbGAP											0			4											249	229	236					4																	166235192		2203	4300	6503	166454642	SO:0001583	missense	0			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"Kelch-like", "BTB/POZ domain containing"	6353	protein-coding gene	gene with protein product	"mayven"	605774	"kelch (Drosophila)-like 2 (Mayven)", "kelch-like 2, Mayven (Drosophila)"			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1483A>T	4.37:g.166235192A>T	ENSP00000226725:p.Asn495Tyr	250	3.45	9		21	34.38	11	166454642	169	40	116	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	HMMSmart_BTB,HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central,superfamily_BTB/POZ_fold,HMMPfam_BACK,HMMPfam_BTB	p.N495Y	ENST00000226725.6	37	c.1483	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	A	16.03	3.007904	0.54361	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	6.13	6.13	0.99165	Galactose oxidase, beta-propeller (1);	0.085599	0.85682	D	0.000000	D	0.83649	0.5300	M	0.84433	2.695	0.80722	D	1	B;B;B	0.15719	0.014;0.014;0.014	B;B;B	0.15484	0.013;0.013;0.013	T	0.80906	-0.1173	10	0.66056	D	0.02	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	499;495;495	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	Y	495;499;407;398;329	ENSP00000226725:N495Y;ENSP00000424198:N499Y;ENSP00000437526:N407Y;ENSP00000408974:N398Y;ENSP00000424108:N329Y	ENSP00000226725:N495Y	N	+	1	0	KLHL2	166454642	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.572000	0.82409	2.367000	0.80283	0.529000	0.55759	AAC	-	HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central		0.363	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	protein_coding	OTTHUMT00000364439.1	A			166454642	1	no_errors	NM_007246.2	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	166235192	A	T	166235192	3	4	75	1	0	0	0	0	1	0	0	0	8374	14	1	5	1575	5	KLHL2	4	166235192	Missense_Mutation	SNP	A	TCGA-AB-2881-03A-01W-0732-08	110635872	166235192	24919084	4	814											
ESM1	11082	genome.wustl.edu	37	5	54281094	54281094	+	Silent	SNP	C	C	T	rs566503445		TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr5:54281094C>T	ENST00000381405.4	-	1	397	c.252G>A	c.(250-252)caG>caA	p.Q84Q	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Silent_p.Q84Q	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	84	IGFBP N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00653}.				angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of hepatocyte growth factor receptor signaling pathway (GO:1902204)|regulation of cell growth (GO:0001558)|sprouting angiogenesis (GO:0002040)	extracellular region (GO:0005576)	hepatocyte growth factor receptor binding (GO:0005171)|integrin binding (GO:0005178)			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			CATTAGAAGGCTGACACCTCA	0.577													C|||	1	0.000199681	8e-04	0	5008	,	,		19016	0		0	False		,,,				2504	0					dbGAP											0			5											92	93	92					5																	54281094		2203	4300	6503	54316851	SO:0001819	synonymous_variant	0			X89426	CCDS3963.1, CCDS47206.1	5q11	2008-02-05			ENSG00000164283	ENSG00000164283			3466	protein-coding gene	gene with protein product		601521				8702785	Standard	NM_001135604		Approved		uc003jpk.3	Q9NQ30	OTTHUMG00000097010	ENST00000381405.4:c.252G>A	5.37:g.54281094C>T		48	9.43	5					54316851	62	44.35	51	B2R4G3|Q15330|Q3V4E3|Q96ES3	Silent	SNP	HMMSmart_IB	p.Q84	ENST00000381405.4	37	c.252	CCDS3963.1	5																																																																																			-	HMMSmart_IB		0.577	ESM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESM1	protein_coding	OTTHUMT00000214099.2	C	NM_007036		54316851	-1	no_errors	NM_007036.1	genbank	human	reviewed	54_36p	silent	SNP	0.995	T	T	54281094	C	T	54281094	2	4	75	1	0	0	0	0	0	0	0	1	5252	796	28	2		2	ESM1	5	54281094	Silent	SNP	C	TCGA-AB-2881-03A-01W-0732-08		54281094	126634166	5	815											
C6orf170	221322	genome.wustl.edu	37	6	121434261	121434261	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr6:121434261T>C	ENST00000398212.2	-	28	3165	c.3116A>G	c.(3115-3117)aAg>aGg	p.K1039R	TBC1D32_ENST00000398197.2_5'UTR|TBC1D32_ENST00000275159.6_Missense_Mutation_p.K1080R	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	1039					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CTCACAATGCTTTAAAACCCA	0.323																																						dbGAP											0			6											163	156	158					6																	121434261		1807	4082	5889	121475960	SO:0001583	missense	0			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"broad-minded homolog"	615867	"chromosome 6 open reading frame 171", "chromosome 6 open reading frame 170"	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.3116A>G	6.37:g.121434261T>C	ENSP00000381270:p.Lys1039Arg	89	3.26	3		3	25	1	121475960	139	40.76	97	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	superfamily_Ypt/Rab-GAP domain of gyp1p	p.K1039R	ENST00000398212.2	37	c.3116	CCDS43501.1	6	.	.	.	.	.	.	.	.	.	.	T	13.87	2.365238	0.41902	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.24538	1.85;1.85	5.82	5.82	0.92795	.	0.043772	0.85682	D	0.000000	T	0.30759	0.0775	L	0.52364	1.645	0.38587	D	0.950328	D;B	0.71674	0.998;0.372	D;B	0.78314	0.991;0.184	T	0.12116	-1.0560	10	0.42905	T	0.14	.	9.5352	0.39218	0.167:0.0:0.0:0.833	.	1080;1039	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	R	1080;1039	ENSP00000275159:K1080R;ENSP00000381270:K1039R	ENSP00000275159:K1080R	K	-	2	0	C6orf170	121475960	1.000000	0.71417	1.000000	0.80357	0.215000	0.24574	2.066000	0.41452	2.225000	0.72522	0.477000	0.44152	AAG	-	NULL		0.323	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	C6orf170	protein_coding	OTTHUMT00000380937.2	T	NM_152730		121475960	-1	no_errors	NM_152730.4	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	121434261	T	C	121434261	3	2	75	1	0	0	0	0	1	0	0	0	2344	1609	56	3	677	3	C6orf170	6	121434261	Missense_Mutation	SNP	T	TCGA-AB-2881-03A-01W-0732-08		121434261	49680806	6	816											
RUNX1T1	862	genome.wustl.edu	37	8	93004054	93004054	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr8:93004054G>T	ENST00000523629.1	-	7	1258	c.804C>A	c.(802-804)tgC>tgA	p.C268*	RUNX1T1_ENST00000518844.1_Nonsense_Mutation_p.C241*|RUNX1T1_ENST00000436581.2_Nonsense_Mutation_p.C279*|RUNX1T1_ENST00000422361.2_Nonsense_Mutation_p.C231*|RUNX1T1_ENST00000520724.1_Nonsense_Mutation_p.C231*|RUNX1T1_ENST00000396218.1_Nonsense_Mutation_p.C241*|RUNX1T1_ENST00000360348.2_Nonsense_Mutation_p.C231*|RUNX1T1_ENST00000265814.3_Nonsense_Mutation_p.C268*	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	268					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGCTAATAGTGCATGGTCGCT	0.493																																						dbGAP											0			8											181	150	161					8																	93004054		2203	4300	6503	93073230	SO:0001587	stop_gained	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"Zinc fingers, MYND-type"	1535	protein-coding gene	gene with protein product		133435	"core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.804C>A	8.37:g.93004054G>T	ENSP00000428543:p.Cys268*	161	5.78	10					93073230	154	39.38	102	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Nonsense_Mutation	SNP	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2	p.C268*	ENST00000523629.1	37	c.804	CCDS6256.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.689385	0.96784	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.8321	20.4745	0.99168	0.0:0.0:1.0:0.0	.	.	.	.	X	268;241;268;231;231;231;279;241	.	ENSP00000265814:C268X	C	-	3	2	RUNX1T1	93073230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.941000	0.99782	0.655000	0.94253	TGC	-	NULL		0.493	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93073230	-1	no_errors	NM_175634.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	93004054	G	T	93004054	4	4	75	1	0	0	0	0	0	1	0	0	13747	1311	46	4	1034	4	RUNX1T1	8	93004054	Nonsense_Mutation	SNP	G	TCGA-AB-2881-03A-01W-0732-08		93004054	53359968	7	817											
KIAA0802	23255	genome.wustl.edu	37	18	8806946	8806946	+	Missense_Mutation	SNP	G	G	A	rs199934266		TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr18:8806946G>A	ENST00000306329.11	+	9	3449	c.3449G>A	c.(3448-3450)cGt>cAt	p.R1150H	SOGA2_ENST00000518815.1_Missense_Mutation_p.R146H|SOGA2_ENST00000359865.3_Missense_Mutation_p.R831H|SOGA2_ENST00000306285.7_Missense_Mutation_p.R146H|SOGA2_ENST00000400050.3_Missense_Mutation_p.R790H|SOGA2_ENST00000517570.1_Missense_Mutation_p.R790H																							GAGGACTTCCGTGCGGAGCTG	0.622																																						dbGAP											0			18						G	HIS/ARG	0,4406		0,0,2203	75	62	67		2492	2.8	0.1	18		67	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC165	NM_015210.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	831/1587	8806946	1,13005	2203	4300	6503	8796946	SO:0001583	missense	0																														ENST00000306329.11:c.3449G>A	18.37:g.8806946G>A	ENSP00000305027:p.Arg1150His	54	0	0					8796946	73	21.28	20		Missense_Mutation	SNP	NULL	p.R831H	ENST00000306329.11	37	c.2492		18	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288425	0.40494	0.0	1.16E-4	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	5.54	2.76	0.32466	.	0.121540	0.38381	N	0.001707	T	0.38214	0.1032	L	0.51422	1.61	0.09310	N	1	B;B	0.30361	0.032;0.277	B;B	0.21708	0.005;0.036	T	0.14671	-1.0464	10	0.21540	T	0.41	-9.5181	6.8167	0.23835	0.2052:0.0:0.6699:0.1249	.	1141;831	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	H	852;790;831;790;146	ENSP00000429556:R790H;ENSP00000352927:R831H;ENSP00000382924:R790H;ENSP00000303670:R146H	ENSP00000303670:R146H	R	+	2	0	CCDC165	8796946	0.976000	0.34144	0.098000	0.21074	0.395000	0.30598	2.478000	0.45189	0.831000	0.34780	0.655000	0.94253	CGT	-	NULL		0.622	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	KIAA0802	protein_coding	OTTHUMT00000444141.1	G			8796946	1	no_errors	NM_015210.3	genbank	human	predicted	54_36p	missense	SNP	0.050	A	A	8806946	G	A	8806946	3	1	75	1	0	0	0	0	1	0	0	0	8194	1145	40	1	2526	1	KIAA0802	18	8806946	Missense_Mutation	SNP	G	TCGA-AB-2881-03A-01W-0732-08		8806946	69270302	8	818											
GNA15	2769	genome.wustl.edu	37	19	3150277	3150277	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2881-03A-01W-0732-08	TCGA-AB-2881-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	82b9b9ce-b995-45f0-bf39-53cb56684024	510d78d5-f5a3-4be9-bb94-19f320ca3252	g.chr19:3150277C>T	ENST00000262958.3	+	3	737	c.479C>T	c.(478-480)gCc>gTc	p.A160V	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	160					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTCGATTCAGCCGTGTAGTGA	0.657																																						dbGAP											0			19											59	62	61					19																	3150277		2203	4300	6503	3101277	SO:0001583	missense	0				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.479C>T	19.37:g.3150277C>T	ENSP00000262958:p.Ala160Val	30	0	0		109	56.08	143	3101277	22	36.11	13	E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A160V	ENST00000262958.3	37	c.479	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091016	0.36855	.	.	ENSG00000060558	ENST00000262958	D	0.89810	-2.57	4.36	3.23	0.37069	G protein alpha subunit, helical insertion (2);	0.064316	0.64402	D	0.000007	D	0.89887	0.6845	L	0.38175	1.15	0.27339	N	0.95655	D	0.54397	0.966	D	0.65773	0.938	T	0.82965	-0.0195	10	0.87932	D	0	.	11.3311	0.49477	0.0:0.8139:0.1861:0.0	.	160	P30679	GNA15_HUMAN	V	160	ENSP00000262958:A160V	ENSP00000262958:A160V	A	+	2	0	GNA15	3101277	0.990000	0.36364	0.467000	0.27180	0.050000	0.14768	6.639000	0.74314	1.969000	0.57287	0.313000	0.20887	GCC	-	HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.657	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	protein_coding	OTTHUMT00000452320.2	C	NM_002068		3101277	1	no_errors	NM_002068.2	genbank	human	validated	54_36p	missense	SNP	0.608	T	T	3150277	C	T	3150277	3	4	75	1	0	0	0	0	1	0	0	0	6503	739	26	2	489	2	GNA15	19	3150277	Missense_Mutation	SNP	C	TCGA-AB-2881-03A-01W-0732-08		3150277	55978706	9	819											
RCC2	55920	genome.wustl.edu	37	1	17740033	17740033	+	Splice_Site	SNP	C	C	T			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr1:17740033C>T	ENST00000375436.4	-	9	1394	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	AC004824.1_ENST00000583469.1_RNA|RCC2_ENST00000375433.3_Splice_Site_p.G403S	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	403					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AATCACTAACCCACTTCACTG	0.557																																						dbGAP											0			1											75	77	77					1																	17740033		2203	4300	6503	17612620	SO:0001630	splice_region_variant	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.1207+1G>A	1.37:g.17740033C>T		255	2.65	7		36	37.93	22	17612620	62	40.38	42	Q8IVL9|Q9BSN6|Q9NPV8	Missense_Mutation	SNP	HMMPfam_RCC1,PatternScan_RCC1_1,PatternScan_RCC1_2,superfamily_RCC1/BLIP-II	p.G403S	ENST00000375436.4	37	c.1207	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.453539	0.96223	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	D;D	0.87179	-2.22;-2.22	5.4	5.4	0.78164	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.95130	0.8422	M	0.92122	3.275	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.95814	0.8844	9	.	.	.	-13.7292	18.1015	0.89507	0.0:1.0:0.0:0.0	.	403	Q9P258	RCC2_HUMAN	S	403	ENSP00000364585:G403S;ENSP00000364582:G403S	.	G	-	1	0	RCC2	17612620	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.637000	0.83313	2.687000	0.91594	0.655000	0.94253	GGT	-	superfamily_RCC1/BLIP-II		0.557	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	protein_coding	OTTHUMT00000007144.1	C	NM_018715	Missense_Mutation	17612620	-1	no_errors	NM_018715.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	17740033	C	T	17740033	5	4	76	1	0	0	0	0	0	0	1	0	13174	637	22	2	381	2	RCC2	1	17740033	Splice_Site	SNP	C	TCGA-AB-2882-03A-01W-0761-09		17740033	231510588	1	820											
ALG6	29929	genome.wustl.edu	37	1	63876887	63876887	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr1:63876887G>A	ENST00000371108.4	+	8	870	c.565G>A	c.(565-567)Ggg>Agg	p.G189R	ALG6_ENST00000263440.4_Missense_Mutation_p.G191R	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	189					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGACCTCCTAGGGTCACTGGC	0.378																																						dbGAP											0			1											201	199	199					1																	63876887		2203	4300	6503	63649475	SO:0001583	missense	0			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"	604566	"asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.565G>A	1.37:g.63876887G>A	ENSP00000360149:p.Gly189Arg	169	0.59	1		18	32.14	9	63649475	74	37.29	44	B3KMU2|Q5SXR9|Q9H3I0	Missense_Mutation	SNP	HMMPfam_Alg6_Alg8	p.G189R	ENST00000371108.4	37	c.565	CCDS30735.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532750	0.85812	.	.	ENSG00000088035	ENST00000371108;ENST00000263440	D;D	0.84800	-1.9;-1.9	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94204	0.7452	10	0.66056	D	0.02	-12.9908	19.6786	0.95946	0.0:0.0:1.0:0.0	.	191	A2A2G4	.	R	189;191	ENSP00000360149:G189R;ENSP00000263440:G191R	ENSP00000263440:G191R	G	+	1	0	ALG6	63649475	1.000000	0.71417	0.994000	0.49952	0.681000	0.39784	9.226000	0.95229	2.738000	0.93877	0.591000	0.81541	GGG	-	HMMPfam_Alg6_Alg8		0.378	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	protein_coding	OTTHUMT00000025330.2	G	NM_013339		63649475	1	no_errors	NM_013339.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	63876887	G	A	63876887	3	1	76	1	0	0	0	0	1	0	0	0	522	1000	35	2	591	2	ALG6	1	63876887	Missense_Mutation	SNP	G	TCGA-AB-2882-03A-01W-0761-09	46136854	63876887	185373734	2	821											
DYSF	8291	genome.wustl.edu	37	2	71909662	71909662	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr2:71909662G>A	ENST00000258104.3	+	54	6336	c.6059G>A	c.(6058-6060)cGc>cAc	p.R2020H	DYSF_ENST00000413539.2_Missense_Mutation_p.R2051H|DYSF_ENST00000409651.1_Missense_Mutation_p.R2052H|DYSF_ENST00000429174.2_Missense_Mutation_p.R2041H|DYSF_ENST00000409366.1_Missense_Mutation_p.R2042H|DYSF_ENST00000409762.1_Missense_Mutation_p.R2037H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409744.1_Missense_Mutation_p.R2028H|DYSF_ENST00000409582.3_Missense_Mutation_p.R2058H|DYSF_ENST00000410020.3_Missense_Mutation_p.R2059H|DYSF_ENST00000410041.1_Missense_Mutation_p.R2038H|DYSF_ENST00000394120.2_Missense_Mutation_p.R2021H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2020					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTTCCAGGCGCCCCGACACC	0.567																																						dbGAP											0			2											142	117	125					2																	71909662		2203	4300	6503	71763170	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6059G>A	2.37:g.71909662G>A	ENSP00000258104:p.Arg2020His	427	3.8	17		22	48.84	21	71763170	135	38.46	85	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI	p.R2020H	ENST00000258104.3	37	c.6059	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.207308	0.95033	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.56;-2.55;-2.58;-2.58;-2.58;-2.55;-2.55;-2.56;-2.58	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	M	0.90870	3.155	0.80722	D	1	D;D;D;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;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;1.0;1.0;1.0;0.999;0.999;1.0;0.999;0.999;0.999	D	0.96407	0.9301	10	0.87932	D	0	-19.5122	16.3717	0.83364	0.0:0.0:1.0:0.0	.	784;2052;2059;2042;2007;2038;2028;2037;2027;2051;2058;2041;2006;2021;2020	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	H	2051;2037;2058;2041;2020;2052;2021;2028;2042;2059;2038	ENSP00000407046:R2051H;ENSP00000387137:R2037H;ENSP00000386547:R2058H;ENSP00000398305:R2041H;ENSP00000258104:R2020H;ENSP00000386683:R2052H;ENSP00000377678:R2021H;ENSP00000386285:R2028H;ENSP00000386512:R2042H;ENSP00000386881:R2059H;ENSP00000386617:R2038H	ENSP00000258104:R2020H	R	+	2	0	DYSF	71763170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.780000	0.99024	2.514000	0.84764	0.655000	0.94253	CGC	-	NULL		0.567	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	G	NM_003494		71763170	1	no_errors	NM_003494.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	71909662	G	A	71909662	3	1	76	1	0	0	0	0	1	0	0	0	4859	1087	38	1	6532	1	DYSF	2	71909662	Missense_Mutation	SNP	G	TCGA-AB-2882-03A-01W-0761-09		71909662	171289711	3	822											
CADPS	8618	genome.wustl.edu	37	3	62484930	62484930	+	Silent	SNP	C	C	G			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr3:62484930C>G	ENST00000383710.4	-	18	2962	c.2613G>C	c.(2611-2613)cgG>cgC	p.R871R	CADPS_ENST00000283269.9_Silent_p.R888R|CADPS_ENST00000357948.3_Silent_p.R848R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	871	Interaction with DRD2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAGTGATTAACCGGCCTACAT	0.408																																						dbGAP											0			3											131	118	123					3																	62484930		2203	4300	6503	62459970	SO:0001819	synonymous_variant	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2613G>C	3.37:g.62484930C>G		248	1.57	4					62459970	115	35.75	64	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like	p.R871	ENST00000383710.4	37	c.2613	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	4.637	0.118344	0.08881	.	.	ENSG00000163618	ENST00000491424	.	.	.	5.71	-3.32	0.04973	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50127	-0.8864	4	.	.	.	.	9.0428	0.36327	0.0:0.4188:0.3063:0.275	.	.	.	.	L	178	.	.	V	-	1	0	CADPS	62459970	0.355000	0.24921	0.977000	0.42913	0.977000	0.68977	-0.554000	0.06006	-0.551000	0.06175	-1.320000	0.01293	GTT	-	HMMPfam_DUF1041		0.408	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62459970	-1	no_errors	NM_003716.3	genbank	human	reviewed	54_36p	silent	SNP	0.921	G	G	62484930	C	G	62484930	2	3	76	1	0	0	0	0	0	0	0	1	2570	494	18	4		4	CADPS	3	62484930	Silent	SNP	C	TCGA-AB-2882-03A-01W-0761-09		62484930	135537500	4	823											
BCHE	590	genome.wustl.edu	37	3	165548476	165548476	+	Frame_Shift_Del	DEL	G	G	-	rs374198965		TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr3:165548476delG	ENST00000264381.3	-	2	512	c.346delC	c.(346-348)ctcfs	p.L116fs	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	116					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	TCTTCACTGAGGTCAGTGTTT	0.383																																						dbGAP											0			3											83	88	87					3																	165548476		2203	4300	6503	167031170	SO:0001589	frameshift_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"cholinesterase 1", "cholinesterase (serum) 2"	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.346delC	3.37:g.165548476delG	ENSP00000264381:p.Leu116fs	128	0	0		0	0	0	167031170	83	28.45	33	A8K7P8	Frame_Shift_Del	DEL	HMMPfam_COesterase,HMMPfam_AChE_tetra,PatternScan_CARBOXYLESTERASE_B_2,PatternScan_CARBOXYLESTERASE_B_1,superfamily_SSF53474	p.L116fs	ENST00000264381.3	37	c.346	CCDS3198.1	3																																																																																			-	HMMPfam_COesterase,superfamily_SSF53474		0.383	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	protein_coding	OTTHUMT00000350254.1	G			167031170	-1	no_errors	NM_000055.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.974	-	-	165548476	G	-	165548476	7	5	76	1	0	1	0	1	0	0	0	0	1358	1000	35	0	1474	0	BCHE	3	165548476	Frame_Shift_Del	DEL	G	TCGA-AB-2882-03A-01W-0761-09	103063546	165548476	32473954	5	824											
KLHDC3	116138	genome.wustl.edu	37	6	42984974	42984974	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr6:42984974T>C	ENST00000326974.4	+	2	239	c.44T>C	c.(43-45)gTg>gCg	p.V15A	KLHDC3_ENST00000332245.8_Missense_Mutation_p.V15A|KLHDC3_ENST00000244670.8_5'UTR	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	15					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|reciprocal meiotic recombination (GO:0007131)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)	chromatin binding (GO:0003682)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCCCGCAGGGTGAACCATGCT	0.612																																						dbGAP											0			6											88	96	94					6																	42984974		2203	4300	6503	43092952	SO:0001583	missense	0			AB055925	CCDS4880.1	6p21.1	2003-06-12			ENSG00000124702	ENSG00000124702			20704	protein-coding gene	gene with protein product		611248				12444059, 12606021	Standard	NM_057161		Approved	PEAS, hPeas, dJ20C7.3	uc003otl.3	Q9BQ90	OTTHUMG00000014714	ENST00000326974.4:c.44T>C	6.37:g.42984974T>C	ENSP00000313995:p.Val15Ala	383	5.39	23		56	41.67	40	43092952	40	36.92	24	A8K2W9	Missense_Mutation	SNP	HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2	p.V15A	ENST00000326974.4	37	c.44	CCDS4880.1	6	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370653	0.82573	.	.	ENSG00000124702	ENST00000326974;ENST00000432243;ENST00000394096;ENST00000332245	T;T	0.65549	-0.16;2.3	5.15	5.15	0.70609	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000001	T	0.73110	0.3545	M	0.75615	2.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.74999	-0.3472	10	0.45353	T	0.12	.	15.2822	0.73794	0.0:0.0:0.0:1.0	.	15;15;15	E7ENU0;E7ERR0;Q9BQ90	.;.;KLDC3_HUMAN	A	15	ENSP00000313995:V15A;ENSP00000331562:V15A	ENSP00000313995:V15A	V	+	2	0	KLHDC3	43092952	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.627000	0.83176	2.067000	0.61834	0.533000	0.62120	GTG	-	superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2		0.612	KLHDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC3	protein_coding	OTTHUMT00000040570.1	T	NM_057161		43092952	1	no_errors	NM_057161.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	42984974	T	C	42984974	3	2	76	1	0	0	0	0	1	0	0	0	8357	1696	59	3	46	3	KLHDC3	6	42984974	Missense_Mutation	SNP	T	TCGA-AB-2882-03A-01W-0761-09		42984974	128130093	6	825											
PKHD1	5314	genome.wustl.edu	37	6	51619690	51619690	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr6:51619690C>T	ENST00000371117.3	-	56	8964	c.8689G>A	c.(8689-8691)Gtc>Atc	p.V2897I	PKHD1_ENST00000340994.4_Missense_Mutation_p.V2897I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2897					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGCTAAGGACTATTTTGTCA	0.453																																						dbGAP											0			6											160	149	152					6																	51619690		2203	4300	6503	51727649	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8689G>A	6.37:g.51619690C>T	ENSP00000360158:p.Val2897Ile	314	2.79	9					51727649	126	35.71	70	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8	p.V2897I	ENST00000371117.3	37	c.8689	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131335	0.37630	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.83163	-1.69;-1.69	5.63	-0.264	0.12950	.	0.270222	0.30949	N	0.008541	T	0.74906	0.3778	M	0.76328	2.33	0.09310	N	1	P;D;P	0.52996	0.911;0.957;0.816	P;P;B	0.48795	0.514;0.59;0.152	T	0.71272	-0.4642	10	0.66056	D	0.02	.	9.2177	0.37358	0.0:0.5652:0.0:0.4348	.	2897;2897;2897	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	I	2897	ENSP00000360158:V2897I;ENSP00000341097:V2897I	ENSP00000341097:V2897I	V	-	1	0	PKHD1	51727649	0.007000	0.16637	0.019000	0.16419	0.431000	0.31685	-0.051000	0.11885	-0.051000	0.13334	-0.123000	0.14984	GTC	-	NULL		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51727649	-1	no_errors	NM_138694.3	genbank	human	reviewed	54_36p	missense	SNP	0.252	T	T	51619690	C	T	51619690	3	4	76	1	0	0	0	0	1	0	0	0	11971	565	20	2	3622	2	PKHD1	6	51619690	Missense_Mutation	SNP	C	TCGA-AB-2882-03A-01W-0761-09	8634716	51619690	119495377	7	826											
RBM16	22828	genome.wustl.edu	37	6	155154044	155154044	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr6:155154044G>T	ENST00000367178.3	+	20	3907	c.3331G>T	c.(3331-3333)Ggt>Tgt	p.G1111C	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000367186.4_Missense_Mutation_p.G1177C|SCAF8_ENST00000417268.1_Missense_Mutation_p.G1111C	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1111					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						ACCGGTCTATGGTGGTCCAAA	0.468																																						dbGAP											0			6											64	71	68					6																	155154044		2203	4300	6503	155195736	SO:0001583	missense	0			AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"RNA binding motif (RRM) containing"	20959	protein-coding gene	gene with protein product			"RNA binding motif protein 16"	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.3331G>T	6.37:g.155154044G>T	ENSP00000356146:p.Gly1111Cys	163	1.81	3		53	27.03	20	155195736	115	17.27	24	B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMSmart_RPR,HMMPfam_DUF618,superfamily_ENTH_VHS,superfamily_SSF54928	p.G1111C	ENST00000367178.3	37	c.3331	CCDS5247.1	6	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074327	0.36566	.	.	ENSG00000213079;ENSG00000213079;ENSG00000213079;ENSG00000146426	ENST00000367178;ENST00000417268;ENST00000367186;ENST00000528928	T;T;T	0.58210	0.35;0.35;0.35	5.73	2.95	0.34219	.	0.353900	0.25363	U	0.031205	T	0.25754	0.0627	L	0.27053	0.805	0.80722	D	1	P;P;P	0.49696	0.927;0.927;0.927	B;B;B	0.43623	0.425;0.425;0.425	T	0.05886	-1.0858	10	0.66056	D	0.02	.	10.4632	0.44592	0.2155:0.0:0.7845:0.0	.	1156;1177;1111	B7Z876;B7Z888;Q9UPN6	.;.;SCAF8_HUMAN	C	1111;1111;1177;72	ENSP00000356146:G1111C;ENSP00000413098:G1111C;ENSP00000356154:G1177C	ENSP00000356146:G1111C	G	+	1	0	TIAM2;SCAF8	155195736	1.000000	0.71417	0.119000	0.21687	0.912000	0.54170	4.901000	0.63259	0.337000	0.23665	-0.126000	0.14955	GGT	-	NULL		0.468	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM16	protein_coding	OTTHUMT00000042798.1	G	NM_014892		155195736	1	no_errors	NM_014892.3	genbank	human	validated	54_36p	missense	SNP	0.996	T	T	155154044	G	T	155154044	3	4	76	1	0	0	0	0	1	0	0	0	13118	1348	47	4	3409	4	RBM16	6	155154044	Missense_Mutation	SNP	G	TCGA-AB-2882-03A-01W-0761-09	103534354	155154044	15961023	8	827											
SDK1	221935	genome.wustl.edu	37	7	4014056	4014056	+	Missense_Mutation	SNP	G	G	A	rs147156647		TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr7:4014056G>A	ENST00000404826.2	+	13	2012	c.1873G>A	c.(1873-1875)Gtg>Atg	p.V625M	SDK1_ENST00000389531.3_Missense_Mutation_p.V625M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	625	Ig-like C2-type 6.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTCTAGGATCGTGGTGGAGAA	0.552																																						dbGAP											0			7						G	MET/VAL	0,4406		0,0,2203	135	107	116		1873	0.2	0.1	7	dbSNP_134	116	1,8599	1.2+/-3.3	0,1,4299	no	missense	SDK1	NM_152744.3	21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	625/2214	4014056	1,13005	2203	4300	6503	3980582	SO:0001583	missense	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19307	protein-coding gene	gene with protein product		607216	"sidekick homolog 1 (chicken)", "sidekick homolog 1, cell adhesion molecule (chicken)"			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1873G>A	7.37:g.4014056G>A	ENSP00000385899:p.Val625Met	169	8.15	15					3980582	27	41.3	19	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.V625M	ENST00000404826.2	37	c.1873	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	5.409	0.260610	0.10239	0.0	1.16E-4	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.67698	-0.28;-0.28	5.35	0.18	0.15068	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.413260	0.21746	N	0.069747	T	0.41743	0.1172	L	0.33093	0.98	0.09310	N	1	P	0.35807	0.522	B	0.27715	0.082	T	0.28776	-1.0033	10	0.44086	T	0.13	.	0.8736	0.01219	0.3264:0.29:0.2361:0.1476	.	625	Q7Z5N4	SDK1_HUMAN	M	625	ENSP00000385899:V625M;ENSP00000374182:V625M	ENSP00000374182:V625M	V	+	1	0	SDK1	3980582	0.006000	0.16342	0.113000	0.21522	0.207000	0.24258	0.352000	0.20113	-0.039000	0.13602	-0.244000	0.11960	GTG	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin		0.552	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	protein_coding	OTTHUMT00000323702.1	G	NM_152744		3980582	1	no_errors	NM_152744.1	genbank	human	validated	54_36p	missense	SNP	0.004	A	A	4014056	G	A	4014056	3	1	76	1	0	0	0	0	1	0	0	0	13968	1145	40	1	1923	1	SDK1	7	4014056	Missense_Mutation	SNP	G	TCGA-AB-2882-03A-01W-0761-09		4014056	155124607	9	828											
TRPM3	80036	genome.wustl.edu	37	9	73218347	73218347	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr9:73218347C>T	ENST00000377111.2	-	19	2914	c.2671G>A	c.(2671-2673)Gtg>Atg	p.V891M	TRPM3_ENST00000408909.2_Missense_Mutation_p.V750M|TRPM3_ENST00000358082.3_Missense_Mutation_p.V753M|TRPM3_ENST00000396292.4_Missense_Mutation_p.V763M|TRPM3_ENST00000377106.1_Missense_Mutation_p.V763M|TRPM3_ENST00000396285.1_Missense_Mutation_p.V738M|TRPM3_ENST00000396280.5_Missense_Mutation_p.V740M|TRPM3_ENST00000423814.3_Missense_Mutation_p.V918M|TRPM3_ENST00000377105.1_Missense_Mutation_p.V750M|TRPM3_ENST00000357533.2_Missense_Mutation_p.V895M|TRPM3_ENST00000377110.3_Missense_Mutation_p.V891M|TRPM3_ENST00000360823.2_Missense_Mutation_p.V753M	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	916					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTCACTAACACGATATAGTTG	0.493																																						dbGAP											0			9											105	88	94					9																	73218347		2203	4300	6503	72408167	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"Voltage-gated ion channels / Transient receptor potential cation channels"	17992	protein-coding gene	gene with protein product	"melastatin 2"	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2671G>A	9.37:g.73218347C>T	ENSP00000366315:p.Val891Met	506	1.75	9					72408167	115	38.17	71	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	HMMPfam_Ion_trans	p.V891M	ENST00000377111.2	37	c.2671		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.5|24.5	4.539032|4.539032	0.85917|0.85917	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000396280|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	.|T;T;T;T;T;T;T;T;T;T;T	.|0.63913	.|-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07;-0.07	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81216|0.81216	0.4776|0.4776	M|M	0.80332|0.80332	2.49|2.49	0.48762|0.48762	D|D	0.999708|0.999708	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;0.968;0.999;0.999;1.0;1.0;0.976;0.997	.|D;P;D;D;D;D;P;P	.|0.77557	.|0.99;0.651;0.981;0.96;0.978;0.975;0.674;0.818	T|T	0.82196|0.82196	-0.0577|-0.0577	5|10	.|0.56958	.|D	.|0.05	-23.9162|-23.9162	19.6085|19.6085	0.95589|0.95589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|891;891;881;895;753;750;863;738	.|Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|.;.;.;.;.;.;.;.	H|M	739|891;891;763;753;750;895;750;738;763;753;918	.|ENSP00000366315:V891M;ENSP00000366314:V891M;ENSP00000366310:V763M;ENSP00000354066:V753M;ENSP00000366309:V750M;ENSP00000350140:V895M;ENSP00000386127:V750M;ENSP00000379581:V738M;ENSP00000379587:V763M;ENSP00000350791:V753M;ENSP00000389542:V918M	.|ENSP00000350140:V895M	R|V	-|-	2|1	0|0	TRPM3|TRPM3	72408167|72408167	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	4.911000|4.911000	0.63328|0.63328	2.629000|2.629000	0.89072|0.89072	0.637000|0.637000	0.83480|0.83480	CGT|GTG	-	NULL		0.493	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	TRPM3	protein_coding	OTTHUMT00000214157.5	C	NM_206945		72408167	-1	no_errors	NM_001007471.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	73218347	C	T	73218347	3	4	76	1	0	0	0	0	1	0	0	0	16584	536	19	1	2480	1	TRPM3	9	73218347	Missense_Mutation	SNP	C	TCGA-AB-2882-03A-01W-0761-09		73218347	67995084	10	829											
DYNC2H1	79659	genome.wustl.edu	37	11	102980403	102980403	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr11:102980403T>G	ENST00000375735.2	+	1	244	c.100T>G	c.(100-102)Tgc>Ggc	p.C34G	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.C34G|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.C34G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	34	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCCACTGTTGTGCAACTGTCT	0.517																																						dbGAP											0			11											85	82	83					11																	102980403		1968	4164	6132	102485613	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.100T>G	11.37:g.102980403T>G	ENSP00000364887:p.Cys34Gly	231	4.55	11					102485613	71	29.7	30	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.C34G	ENST00000375735.2	37	c.100	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	T	8.934	0.964209	0.18583	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.28069	1.77;1.63;1.77	5.63	-11.3	0.00108	.	0.812540	0.09108	U	0.847418	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12837	-1.0532	10	0.19590	T	0.45	.	4.5833	0.12269	0.2668:0.444:0.1737:0.1155	.	34;34;34	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	G	34	ENSP00000364887:C34G;ENSP00000334021:C34G;ENSP00000381167:C34G	ENSP00000334021:C34G	C	+	1	0	DYNC2H1	102485613	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.048000	0.01406	-1.778000	0.01282	-0.353000	0.07706	TGC	-	NULL		0.517	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	T	XM_370652		102485613	1	no_errors	NM_001080463.1	genbank	human	provisional	54_36p	missense	SNP	0.000	G	G	102980403	T	G	102980403	3	3	76	1	0	0	0	0	1	0	0	0	4846	1696	59	5	102	5	DYNC2H1	11	102980403	Missense_Mutation	SNP	T	TCGA-AB-2882-03A-01W-0761-09		102980403	32026113	11	830											
TMCO5A	145942	genome.wustl.edu	37	15	38243365	38243365	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr15:38243365C>T	ENST00000319669.4	+	11	899	c.797C>T	c.(796-798)aCc>aTc	p.T266I	TMCO5A_ENST00000540944.1_Intron|TMCO5A_ENST00000559502.1_Intron	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	266						integral component of membrane (GO:0016021)		p.T266I(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGCAGGAGCACCTTGTGGAAG	0.428																																						dbGAP											1	Substitution - Missense(1)	skin(1)	15											129	113	118					15																	38243365		2200	4297	6497	36030657	SO:0001583	missense	0			BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"transmembrane and coiled-coil domains 5"	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.797C>T	15.37:g.38243365C>T	ENSP00000327234:p.Thr266Ile	214	3.59	8					36030657	77	44.2	61	Q8NA63	Missense_Mutation	SNP	NULL	p.T266I	ENST00000319669.4	37	c.797	CCDS10046.1	15	.	.	.	.	.	.	.	.	.	.	C	8.105	0.777553	0.16120	.	.	ENSG00000166069	ENST00000319669	.	.	.	4.63	0.625	0.17665	.	0.683800	0.13041	N	0.418491	T	0.13286	0.0322	N	0.04018	-0.295	0.22918	N	0.998561	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	9	0.26408	T	0.33	-0.0556	2.3945	0.04386	0.2093:0.2412:0.0:0.5495	.	266	Q8N6Q1	TMC5A_HUMAN	I	266	.	ENSP00000327234:T266I	T	+	2	0	TMCO5A	36030657	0.860000	0.29831	0.429000	0.26710	0.843000	0.47879	0.446000	0.21694	0.260000	0.21731	-0.438000	0.05819	ACC	-	NULL		0.428	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO5A	protein_coding	OTTHUMT00000252012.1	C	NM_152453		36030657	1	no_errors	NM_152453.2	genbank	human	provisional	54_36p	missense	SNP	0.332	T	T	38243365	C	T	38243365	3	4	76	1	0	0	0	0	1	0	0	0	15996	507	18	2	835	2	TMCO5A	15	38243365	Missense_Mutation	SNP	C	TCGA-AB-2882-03A-01W-0761-09		38243365	64288027	12	831											
SMG1	23049	genome.wustl.edu	37	16	18849950	18849950	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr16:18849950C>T	ENST00000446231.2	-	43	7419	c.7007G>A	c.(7006-7008)aGa>aAa	p.R2336K	SMG1_ENST00000389467.3_Missense_Mutation_p.R2336K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2336	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATCCAGATGTCTGTCTCCAAG	0.368																																						dbGAP											0			16											129	119	122					16																	18849950		1866	4115	5981	18757451	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.7007G>A	16.37:g.18849950C>T	ENSP00000402515:p.Arg2336Lys	229	4.18	10		56	43.43	43	18757451	93	33.57	47	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_2	p.R2336K	ENST00000446231.2	37	c.7007	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765517	0.90020	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	D;D	0.98901	-5.22;-5.22	5.87	5.87	0.94306	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.99591	0.9852	H	0.98818	4.34	0.44908	D	0.997929	P;D	0.57257	0.902;0.979	P;D	0.74023	0.87;0.982	D	0.97739	1.0207	10	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	2196;2336	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	K	2336	ENSP00000402515:R2336K;ENSP00000374118:R2336K	ENSP00000374118:R2336K	R	-	2	0	SMG1	18757451	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.941000	0.99782	0.655000	0.94253	AGA	-	HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like),PatternScan_PI3_4_KINASE_2		0.368	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	protein_coding	OTTHUMT00000391817.1	C	NM_015092		18757451	-1	no_errors	NM_015092.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	18849950	C	T	18849950	3	4	76	1	0	0	0	0	1	0	0	0	14795	913	32	2	4062	2	SMG1	16	18849950	Missense_Mutation	SNP	C	TCGA-AB-2882-03A-01W-0761-09		18849950	71504803	13	832											
HAO1	54363	genome.wustl.edu	37	20	7866398	7866398	+	Silent	SNP	C	C	T			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr20:7866398C>T	ENST00000378789.3	-	6	978	c.927G>A	c.(925-927)aaG>aaA	p.K309K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	309	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAAACACAGCCTTGGCGCCAA	0.473																																						dbGAP											0			20											123	124	124					20																	7866398		2203	4300	6503	7814398	SO:0001819	synonymous_variant	0			AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.927G>A	20.37:g.7866398C>T		379	5.01	20					7814398	142	35.45	78	Q14CQ0|Q9UPZ0|Q9Y3I7	Silent	SNP	HMMPfam_FMN_dh,PatternScan_FMN_HYDROXY_ACID_DH_1,superfamily_FMN-linked oxidoreductases	p.K309	ENST00000378789.3	37	c.927	CCDS13100.1	20																																																																																			-	HMMPfam_FMN_dh,superfamily_FMN-linked oxidoreductases		0.473	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	protein_coding	OTTHUMT00000077926.2	C			7814398	-1	no_errors	NM_017545.2	genbank	human	reviewed	54_36p	silent	SNP	0.990	T	T	7866398	C	T	7866398	2	4	76	1	0	0	0	0	0	0	0	1	6951	680	24	2		2	HAO1	20	7866398	Silent	SNP	C	TCGA-AB-2882-03A-01W-0761-09		7866398	55159122	14	833											
DNMT3B	1789	genome.wustl.edu	37	20	31386387	31386387	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr20:31386387C>T	ENST00000328111.2	+	15	1933	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	DNMT3B_ENST00000456297.2_Missense_Mutation_p.R442C|DNMT3B_ENST00000348286.2_Missense_Mutation_p.R518C|DNMT3B_ENST00000201963.3_Missense_Mutation_p.R530C|DNMT3B_ENST00000353855.2_Missense_Mutation_p.R518C|DNMT3B_ENST00000443239.3_Missense_Mutation_p.R476C|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000344505.4_Missense_Mutation_p.R518C	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	538	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTCCTGCGGCGCCGGAAGGA	0.642																																						dbGAP											0			20											43	47	46					20																	31386387		2203	4300	6503	30850048	SO:0001583	missense	0				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.1612C>T	20.37:g.31386387C>T	ENSP00000328547:p.Arg538Cys	126	5.26	7		18	61.7	29	30850048	44	37.14	26	A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R538C	ENST00000328111.2	37	c.1612	CCDS13205.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.255438	0.95336	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	5.76	5.76	0.90799	Zinc finger, FYVE/PHD-type (1);	0.056575	0.64402	D	0.000001	D	0.89188	0.6644	M	0.79926	2.475	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.977;0.985;0.972;0.99;0.99;0.99;0.999	D	0.89576	0.3817	10	0.87932	D	0	-29.4349	19.3309	0.94288	0.0:1.0:0.0:0.0	.	442;476;237;530;518;518;538	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	C	538;518;518;476;442;518;530	ENSP00000328547:R538C;ENSP00000313397:R518C;ENSP00000337764:R518C;ENSP00000403169:R476C;ENSP00000412305:R442C;ENSP00000345105:R518C;ENSP00000201963:R530C	ENSP00000201963:R530C	R	+	1	0	DNMT3B	30850048	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	5.897000	0.69831	2.880000	0.98712	0.650000	0.86243	CGC	-	superfamily_FYVE/PHD zinc finger		0.642	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	protein_coding	OTTHUMT00000078643.2	C	NM_006892		30850048	1	no_errors	NM_006892.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	31386387	C	T	31386387	3	4	76	1	0	0	0	0	1	0	0	0	4677	768	27	1	1706	1	DNMT3B	20	31386387	Missense_Mutation	SNP	C	TCGA-AB-2882-03A-01W-0761-09	23519989	31386387	31639133	15	834											
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	T	rs371769427		TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr21:44524456G>T	ENST00000291552.4	-	2	193	c.101C>A	c.(100-102)tCt>tAt	p.S34Y	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34Y|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	21											67	64	65					21																	44524456		2203	4300	6503	43397525	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>A	21.37:g.44524456G>T	ENSP00000291552:p.Ser34Tyr	142	0.7	1		67	49.62	66	43397525	19	45.71	16	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.S34Y	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962845	0.92791	.	.	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	Y	34	ENSP00000369629:S34Y;ENSP00000291552:S34Y	ENSP00000291552:S34Y	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	G	NM_006758		43397525	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	44524456	G	T	44524456	3	4	76	1	0	0	0	0	1	0	0	0	16818	942	33	4	720	4	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-AB-2882-03A-01W-0761-09		44524456	3605439	16	835											
NIPSNAP1	8508	genome.wustl.edu	37	22	29966426	29966426	+	Missense_Mutation	SNP	T	T	C	rs538441678		TCGA-AB-2882-03A-01W-0761-09	TCGA-AB-2882-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b94e2b78-8092-49af-9c9e-7fd612b89793	22830365-9194-4c33-98d3-294740f281eb	g.chr22:29966426T>C	ENST00000216121.7	-	2	448	c.194A>G	c.(193-195)aAg>aGg	p.K65R		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	65					sensory perception of pain (GO:0019233)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|synaptic membrane (GO:0097060)	neurotransmitter binding (GO:0042165)	p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						GGTTTCCTTCTTGGACAGCAG	0.547													T|||	1	0.000199681	0	0.0014	5008	,	,		18865	0		0	False		,,,				2504	0					dbGAP											1	Unknown(1)	lung(1)	22											77	72	74					22																	29966426		2203	4300	6503	28296426	SO:0001583	missense	0			AJ001258	CCDS13860.1	22q12	2013-09-12	2001-11-28		ENSG00000184117	ENSG00000184117			7827	protein-coding gene	gene with protein product	"4-nitrophenylphosphatase domain and non-neuronal SNAP25-like 1"	603249	"NIPSNAP, C. elegans, homolog 1"			9661659	Standard	NM_003634		Approved		uc003afx.4	Q9BPW8	OTTHUMG00000151294	ENST00000216121.7:c.194A>G	22.37:g.29966426T>C	ENSP00000216121:p.Lys65Arg	764	2.55	20		19	38.71	12	28296426	100	42.53	74	B2RAY3|O43800	Missense_Mutation	SNP	HMMPfam_NIPSNAP	p.K65R	ENST00000216121.7	37	c.194	CCDS13860.1	22	.	.	.	.	.	.	.	.	.	.	T	26.2	4.713000	0.89112	.	.	ENSG00000184117	ENST00000216121	T	0.61510	0.1	4.48	4.48	0.54585	Dimeric alpha-beta barrel (1);	0.000000	0.85682	D	0.000000	T	0.70762	0.3261	M	0.75884	2.315	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	D;D	0.63703	0.917;0.917	T	0.68808	-0.5311	10	0.20046	T	0.44	-6.5541	13.9248	0.63955	0.0:0.0:0.0:1.0	.	45;65	B4DQI7;Q9BPW8	.;NIPS1_HUMAN	R	65	ENSP00000216121:K65R	ENSP00000216121:K65R	K	-	2	0	NIPSNAP1	28296426	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.522000	0.81844	2.014000	0.59158	0.374000	0.22700	AAG	-	NULL		0.547	NIPSNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP1	protein_coding	OTTHUMT00000322117.1	T			28296426	-1	no_errors	NM_003634.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	29966426	T	C	29966426	3	2	76	1	0	0	0	0	1	0	0	0	10429	1609	56	3	696	3	NIPSNAP1	22	29966426	Missense_Mutation	SNP	T	TCGA-AB-2882-03A-01W-0761-09		29966426	21338140	17	836											
KDM6A	7403	genome.wustl.edu	37	X	44969323	44969323	+	Splice_Site	SNP	G	G	A			TCGA-AB-2883-03A-01W-0732-08	TCGA-AB-2883-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	343d8d8d-6d80-4c2c-b5f7-914abd60201c	ccccf8f4-686f-4609-b8f5-8a43f30b706f	g.chrX:44969323G>A	ENST00000377967.4	+	28	4046		c.e28-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site|KDM6A_ENST00000479423.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTATAAAACAGGTGGAGGTTT	0.348			"D, N, F, S"		"renal, oesophageal SCC, MM"																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"lysine (K)-specific demethylase 6A, UTX"		"E, L"	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)	X											75	69	71					X																	44969323		2203	4299	6502	44854267	SO:0001630	splice_region_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"Chromatin-modifying enzymes / K-demethylases", "Tetratricopeptide (TTC) repeat domain containing"	12637	protein-coding gene	gene with protein product		300128	"ubiquitously transcribed tetratricopeptide repeat, X chromosome"	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4006-1G>A	X.37:g.44969323G>A		27	46	23		0	100	2	44854267	4	80.95	17	Q52LL9|Q5JVQ7	Splice_Site	SNP	-	e28-1	ENST00000377967.4	37	c.4006-1	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210660	0.79240	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000414389;ENST00000433797;ENST00000431196	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4428	0.90673	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KDM6A	44854267	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.471000	0.97696	2.296000	0.77279	0.600000	0.82982	.	-	-		0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTX	protein_coding	OTTHUMT00000056324.1	G	NM_021140	Intron	44854267	1	no_errors	NM_021140.2	genbank	human	validated	54_36p	splice_site	SNP	1.000	A	A	44969323	G	A	44969323	5	1	77	1	0	0	0	0	0	0	1	0	8137	1014	35	2	4115	2	KDM6A	23	44969323	Splice_Site	SNP	G	TCGA-AB-2883-03A-01W-0732-08		44969323	110301237	1	837											
IFI44	10561	genome.wustl.edu	37	1	79125028	79125028	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2884-03A-01W-0732-08	TCGA-AB-2884-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	37c88c38-7f22-41c1-862c-6b9708c97d50	e592e767-0453-45cc-98a6-ba9ba48c6622	g.chr1:79125028A>T	ENST00000370747.4	+	6	957	c.872A>T	c.(871-873)cAt>cTt	p.H291L	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_Missense_Mutation_p.H8L	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	291					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAATTAAATCATCATGACTAC	0.348																																						dbGAP											0			1											115	109	111					1																	79125028		2203	4300	6503	78897616	SO:0001583	missense	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 5"	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.872A>T	1.37:g.79125028A>T	ENSP00000359783:p.His291Leu	106	10.83	13		8	57.89	11	78897616	85	35.56	48	B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	superfamily_SSF52540	p.H291L	ENST00000370747.4	37	c.872	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	A	4.740	0.137521	0.09032	.	.	ENSG00000137965	ENST00000370747;ENST00000438486;ENST00000545124	T;T	0.29917	1.55;1.55	3.8	1.43	0.22495	.	0.699067	0.14029	N	0.346264	T	0.27765	0.0683	M	0.76328	2.33	0.09310	N	1	D;P;P	0.71674	0.998;0.51;0.51	P;B;B	0.62560	0.904;0.089;0.089	T	0.05354	-1.0890	10	0.41790	T	0.15	.	3.0127	0.06049	0.6711:0.0:0.1165:0.2124	.	291;291;291	B4DYN8;B7ZB11;Q8TCB0	.;.;IFI44_HUMAN	L	291;167;8	ENSP00000359783:H291L;ENSP00000399477:H167L	ENSP00000359783:H291L	H	+	2	0	IFI44	78897616	0.004000	0.15560	0.004000	0.12327	0.023000	0.10783	2.016000	0.40971	0.284000	0.22305	0.321000	0.21382	CAT	-	superfamily_SSF52540		0.348	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	protein_coding	OTTHUMT00000026825.1	A	NM_006417		78897616	1	no_errors	NM_006417.4	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	79125028	A	T	79125028	3	4	78	1	0	0	0	0	1	0	0	0	7517	217	8	5	890	5	IFI44	1	79125028	Missense_Mutation	SNP	A	TCGA-AB-2884-03A-01W-0732-08		79125028	170125593	1	838											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2884-03A-01W-0732-08	TCGA-AB-2884-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	37c88c38-7f22-41c1-862c-6b9708c97d50	e592e767-0453-45cc-98a6-ba9ba48c6622	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	67	13.92	11		23	52.08	25	25310746	75	43.88	61	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	78	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2884-03A-01W-0732-08		25457242	217742131	2	839											
IDH1	3417	genome.wustl.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-AB-2884-03A-01W-0732-08	TCGA-AB-2884-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	37c88c38-7f22-41c1-862c-6b9708c97d50	e592e767-0453-45cc-98a6-ba9ba48c6622	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	2											79	73	75					2																	209113112		2203	4300	6503	208821357	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His	82	8.89	8		101	50.97	105	208821357	47	53.4	55	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132H	ENST00000415913.1	37	c.395	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	C			208821357	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	209113112	C	T	209113112	3	4	78	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-AB-2884-03A-01W-0732-08	183655870	209113112	34086261	3	840											
PTPN11	5781	genome.wustl.edu	37	12	112888195	112888195	+	Missense_Mutation	SNP	T	T	C	rs397507512		TCGA-AB-2884-03A-01W-0732-08	TCGA-AB-2884-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	37c88c38-7f22-41c1-862c-6b9708c97d50	e592e767-0453-45cc-98a6-ba9ba48c6622	g.chr12:112888195T>C	ENST00000351677.2	+	3	409	c.211T>C	c.(211-213)Ttt>Ctt	p.F71L	PTPN11_ENST00000392597.1_Missense_Mutation_p.F71L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	71	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12717436}.|F -> L (in myelodysplastic syndrome). {ECO:0000269|PubMed:12634870, ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.F71L(2)|p.F71K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AGGGGAGAAATTTGCCACTTT	0.423			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	12	GRCh37	CM030494|CM056378	PTPN11	M							154	142	146					12																	112888195		2203	4300	6503	111372578	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.211T>C	12.37:g.112888195T>C	ENSP00000340944:p.Phe71Leu	98	14.41	17		18	35.71	10	111372578	60	51.97	66	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.F71L	ENST00000351677.2	37	c.211	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	T	35	5.521692	0.96416	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.98313	-4.86;-4.86	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.77557	0.864;0.99	D	0.98755	1.0722	10	0.87932	D	0	.	16.3291	0.83001	0.0:0.0:0.0:1.0	.	71;71	Q06124-2;Q06124-3	.;.	L	71	ENSP00000376376:F71L;ENSP00000340944:F71L	ENSP00000340944:F71L	F	+	1	0	PTPN11	111372578	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.033000	0.88852	2.257000	0.74773	0.528000	0.53228	TTT	-	HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain		0.423	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	T			111372578	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	112888195	T	C	112888195	3	2	78	1	0	0	0	0	1	0	0	0	12780	1493	52	3	221	3	PTPN11	12	112888195	Missense_Mutation	SNP	T	TCGA-AB-2884-03A-01W-0732-08		112888195	20963700	4	841											
KCNK13	56659	genome.wustl.edu	37	14	90651284	90651285	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2884-03A-01W-0732-08	TCGA-AB-2884-11A-01W-0732-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	37c88c38-7f22-41c1-862c-6b9708c97d50	e592e767-0453-45cc-98a6-ba9ba48c6622	g.chr14:90651284_90651285insG	ENST00000282146.4	+	2	1605_1606	c.1164_1165insG	c.(1165-1167)gggfs	p.G389fs		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	389			G -> A (in dbSNP:rs35909577).		synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.G389W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ATGAATTCTCAGGGGGGGTGGG	0.589																																						dbGAP											1	Substitution - Missense(1)	lung(1)	14																																								89721038	SO:0001589	frameshift_variant	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1171dupG	14.37:g.90651291_90651291dupG	ENSP00000282146:p.Gly389fs	29	0	0		0	0	0	89721037	42	8.7	4	B5TJL8|Q96E79	Frame_Shift_Ins	INS	HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels	p.V390fs	ENST00000282146.4	37	c.1164_1165	CCDS9889.1	14																																																																																			-	NULL		0.589	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	protein_coding	OTTHUMT00000411251.1	-	NM_022054		89721038	1	no_errors	NM_022054.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.880:1.000	G	G	90651285	-	G	90651284	7	5	78	1	0	1	1	0	0	0	0	0	8061	175	7	0	1170	0	KCNK13	14	90651284	Frame_Shift_Ins	INS	-	TCGA-AB-2884-03A-01W-0732-08		90651284	16698256	5	842											
ITGA10	8515	genome.wustl.edu	37	1	145541826	145541826	+	Missense_Mutation	SNP	C	C	T	rs140404631		TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr1:145541826C>T	ENST00000369304.3	+	29	3524	c.3349C>T	c.(3349-3351)Cgg>Tgg	p.R1117W	RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000538811.1_Missense_Mutation_p.R986W|ITGA10_ENST00000539363.1_Missense_Mutation_p.R974W	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1117					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCAGACCCGGCCTATCCT	0.532													C|||	1	0.000199681	8e-04	0	5008	,	,		18710	0		0	False		,,,				2504	0					dbGAP											0			1						C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	136	116	123		3349	6.2	0.4	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA10	NM_003637.3	101	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	1117/1168	145541826	4,13002	2203	4300	6503	144253183	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"Integrins"	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.3349C>T	1.37:g.145541826C>T	ENSP00000358310:p.Arg1117Trp	282	0	0					144253183	78	48.39	75	B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_FG-GAP,HMMSmart_SM00191,HMMPfam_Integrin_alpha2,superfamily_vWA-like,superfamily_Integrin domains,superfamily_Integrin alpha N-terminal domain	p.R1117W	ENST00000369304.3	37	c.3349	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615663	0.46631	6.81E-4	1.16E-4	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.58940	0.3;0.31;0.31	6.16	6.16	0.99307	.	0.354215	0.28659	N	0.014564	T	0.54287	0.1849	L	0.50333	1.59	0.30741	N	0.746132	D;D;D;D	0.71674	0.998;0.998;0.996;0.99	P;P;P;P	0.56916	0.809;0.809;0.53;0.53	T	0.55237	-0.8172	10	0.39692	T	0.17	.	13.1939	0.59728	0.1591:0.8409:0.0:0.0	.	1045;986;974;1117	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	W	1117;1045;974;986	ENSP00000358310:R1117W;ENSP00000439894:R974W;ENSP00000440011:R986W	ENSP00000358310:R1117W	R	+	1	2	ITGA10	144253183	0.028000	0.19301	0.372000	0.25991	0.149000	0.21700	2.975000	0.49281	2.937000	0.99478	0.650000	0.86243	CGG	-	superfamily_Integrin domains		0.532	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	protein_coding	OTTHUMT00000038537.2	C	NM_003637		144253183	1	no_errors	NM_003637.3	genbank	human	reviewed	54_36p	missense	SNP	0.811	T	T	145541826	C	T	145541826	3	4	79	1	0	0	0	0	1	0	0	0	7873	643	23	1	3463	1	ITGA10	1	145541826	Missense_Mutation	SNP	C	TCGA-AB-2885-03A-01W-0732-08		145541826	103708795	1	843											
LRP1B	53353	genome.wustl.edu	37	2	141526782	141526782	+	Splice_Site	SNP	C	C	T			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr2:141526782C>T	ENST00000389484.3	-	35	6729	c.5758G>A	c.(5758-5760)Gaa>Aaa	p.E1920K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1920					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCTATTTACCTGCATGGAAA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0			2											66	67	67					2																	141526782		2203	4300	6503	141243252	SO:0001630	splice_region_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5758+1G>A	2.37:g.141526782C>T		104	0	0					141243252	39	41.79	28	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	HMMPfam_Ldl_recept_b,HMMSmart_LY,PatternScan_ASX_HYDROXYL,HMMPfam_NHL,HMMSmart_EGF_CA,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825	p.E1920K	ENST00000389484.3	37	c.5758	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546754	0.65198	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.28	5.28	0.74379	Six-bladed beta-propeller, TolB-like (1);	0.071658	0.56097	U	0.000037	D	0.83640	0.5298	N	0.13235	0.315	0.52501	D	0.999954	B	0.19817	0.039	B	0.24006	0.05	T	0.77683	-0.2496	9	.	.	.	.	19.0962	0.93253	0.0:1.0:0.0:0.0	.	1920	Q9NZR2	LRP1B_HUMAN	K	1920;1858	ENSP00000374135:E1920K	.	E	-	1	0	LRP1B	141243252	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.640000	0.83355	2.748000	0.94277	0.650000	0.86243	GAA	-	HMMSmart_LY,superfamily_SSF63825		0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	C	NM_018557	Missense_Mutation	141243252	-1	no_errors	NM_018557.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	141526782	C	T	141526782	5	4	79	1	0	0	0	0	0	0	1	0	8955	695	24	2	8269	2	LRP1B	2	141526782	Splice_Site	SNP	C	TCGA-AB-2885-03A-01W-0732-08		141526782	101672591	2	844											
XIRP2	129446	genome.wustl.edu	37	2	168107404	168107404	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr2:168107404G>A	ENST00000409195.1	+	9	9591	c.9502G>A	c.(9502-9504)Gca>Aca	p.A3168T	XIRP2_ENST00000409273.1_Missense_Mutation_p.A2946T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.A3168T|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2993					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTCACAGAGCAAACACTTC	0.483																																						dbGAP											0			2											84	83	83					2																	168107404		1903	4119	6022	167815650	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"myomaxin"	609778	"cardiomyopathy associated 3"	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9502G>A	2.37:g.168107404G>A	ENSP00000386840:p.Ala3168Thr	179	0	0		1	0	0	167815650	50	46.24	43	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	HMMPfam_Xin	p.A3168T	ENST00000409195.1	37	c.9502	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	1.241	-0.621347	0.03636	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02890	4.12;4.12;4.12	5.88	-0.0743	0.13731	.	0.598876	0.17100	N	0.187030	T	0.01523	0.0049	N	0.12961	0.28	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.10450	0.002;0.005;0.004	T	0.46034	-0.9220	10	0.29301	T	0.29	-0.4656	1.7872	0.03044	0.3615:0.1238:0.3875:0.1272	.	2993;2993;2946	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	3168;3168;2946;582	ENSP00000386840:A3168T;ENSP00000295237:A3168T;ENSP00000387255:A2946T	ENSP00000295237:A3168T	A	+	1	0	XIRP2	167815650	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.466000	0.06672	-0.310000	0.08766	-0.252000	0.11476	GCA	-	NULL		0.483	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	G	NM_152381		167815650	1	no_errors	NM_152381.2	genbank	human	validated	54_36p	missense	SNP	0.001	A	A	168107404	G	A	168107404	3	1	79	1	0	0	0	0	1	0	0	0	17427	971	34	2	9532	2	XIRP2	2	168107404	Missense_Mutation	SNP	G	TCGA-AB-2885-03A-01W-0732-08	26580622	168107404	75091969	3	845											
BSN	8927	genome.wustl.edu	37	3	49689598	49689598	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr3:49689598C>T	ENST00000296452.4	+	5	2723	c.2609C>T	c.(2608-2610)gCc>gTc	p.A870V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	870					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGTGGCCTGGCCAAACATGGC	0.622																																						dbGAP											0			3											32	35	34					3																	49689598		2202	4299	6501	49664602	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.2609C>T	3.37:g.49689598C>T	ENSP00000296452:p.Ala870Val	65	0	0					49664602	1	88.89	8	O43161|Q7LGH3	Missense_Mutation	SNP	HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF	p.A870V	ENST00000296452.4	37	c.2609	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	C	10.07	1.250540	0.22880	.	.	ENSG00000164061	ENST00000296452	T	0.18016	2.24	5.02	4.15	0.48705	.	0.205916	0.40385	N	0.001117	T	0.13798	0.0334	L	0.44542	1.39	0.22880	N	0.998611	B	0.06786	0.001	B	0.04013	0.001	T	0.17077	-1.0381	10	0.40728	T	0.16	.	7.1355	0.25525	0.2881:0.6304:0.0:0.0815	.	870	Q9UPA5	BSN_HUMAN	V	870	ENSP00000296452:A870V	ENSP00000296452:A870V	A	+	2	0	BSN	49664602	0.005000	0.15991	0.990000	0.47175	0.884000	0.51177	0.303000	0.19210	1.108000	0.41662	0.561000	0.74099	GCC	-	NULL		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49664602	1	no_errors	NM_003458.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	49689598	C	T	49689598	3	4	79	1	0	0	0	0	1	0	0	0	1530	739	26	2	2627	2	BSN	3	49689598	Missense_Mutation	SNP	C	TCGA-AB-2885-03A-01W-0732-08		49689598	148332832	4	846											
FOXP4	116113	genome.wustl.edu	37	6	41555574	41555575	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr6:41555574_41555575insA	ENST00000307972.4	+	7	928_929	c.916_917insA	c.(916-918)cacfs	p.H306fs	FOXP4_ENST00000373063.3_Frame_Shift_Ins_p.H305fs|FOXP4_ENST00000373060.1_Frame_Shift_Ins_p.H306fs|FOXP4_ENST00000373057.3_Frame_Shift_Ins_p.H304fs|FOXP4_ENST00000409208.1_Frame_Shift_Ins_p.H306fs			Q8IVH2	FOXP4_HUMAN	forkhead box P4	306					embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCTGTACGGACACGGAGAGTGC	0.658																																						dbGAP											0			6																																								41663553	SO:0001589	frameshift_variant	0			AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"Forkhead boxes"	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.917dupA	6.37:g.41555575_41555575dupA	ENSP00000309823:p.His306fs	48	0	0		1	0	0	41663552	11	31.25	5	Q5W098|Q7Z7F8|Q8IW55|Q96E19	Frame_Shift_Ins	INS	HMMPfam_Fork_head,HMMSmart_SM00339,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_FORK_HEAD_2,superfamily_"Winged helix" DNA-binding domain	p.H306fs	ENST00000307972.4	37	c.916_917	CCDS34447.1	6																																																																																			-	NULL		0.658	FOXP4-002	KNOWN	basic|CCDS	protein_coding	FOXP4	protein_coding	OTTHUMT00000106767.1	-	NM_138457		41663553	1	no_errors	NM_001012426.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	A	A	41555575	-	A	41555574	7	5	79	1	0	1	1	0	0	0	0	0	6029	478	17	0	942	0	FOXP4	6	41555574	Frame_Shift_Ins	INS	-	TCGA-AB-2885-03A-01W-0732-08		41555574	129559493	5	847											
FAM40B	57464	genome.wustl.edu	37	7	129093996	129093996	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr7:129093996T>C	ENST00000249344.2	+	6	584	c.544T>C	c.(544-546)Tgt>Cgt	p.C182R	STRIP2_ENST00000435494.2_Missense_Mutation_p.C182R	NM_020704.2	NP_065755.1	Q9ULQ0	STRP2_HUMAN	striatin interacting protein 2	182					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)											CAGCCAGGCCTGTAGCAGTGC	0.498																																						dbGAP											0			7											69	66	67					7																	129093996		2203	4300	6503	128881232	SO:0001583	missense	0			AB032996	CCDS34752.1, CCDS47709.1	7q32.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000128578	ENSG00000128578			22209	protein-coding gene	gene with protein product	"FAR11 factor arrest 11 homolog B (yeast)"		"family with sequence similarity 40, member B"	FAM40B		22782902, 22298706, 18782753	Standard	NM_020704		Approved	KIAA1170, FAR11B	uc011koy.2	Q9ULQ0	OTTHUMG00000157695	ENST00000249344.2:c.544T>C	7.37:g.129093996T>C	ENSP00000249344:p.Cys182Arg	215	0	0					128881232	10	67.74	21	Q8WUZ4	Missense_Mutation	SNP	HMMPfam_N1221	p.C182R	ENST00000249344.2	37	c.544	CCDS34752.1	7	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591090	0.66219	.	.	ENSG00000128578	ENST00000249344;ENST00000435494	T;T	0.47177	0.86;0.85	5.51	4.33	0.51752	.	0.049518	0.85682	D	0.000000	T	0.52980	0.1768	M	0.80616	2.505	0.80722	D	1	P;P	0.44946	0.846;0.565	P;B	0.46629	0.522;0.444	T	0.51934	-0.8642	10	0.17832	T	0.49	-3.6316	10.7793	0.46369	0.0:0.0:0.1594:0.8406	.	182;182	Q9ULQ0;Q9ULQ0-2	FA40B_HUMAN;.	R	182	ENSP00000249344:C182R;ENSP00000392393:C182R	ENSP00000249344:C182R	C	+	1	0	FAM40B	128881232	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.917000	0.69989	0.897000	0.36392	0.459000	0.35465	TGT	-	HMMPfam_N1221		0.498	STRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM40B	protein_coding	OTTHUMT00000349418.1	T	NM_001134336		128881232	1	no_errors	NM_020704.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	129093996	T	C	129093996	3	2	79	1	0	0	0	0	1	0	0	0	5561	1580	55	3	566	3	FAM40B	7	129093996	Missense_Mutation	SNP	T	TCGA-AB-2885-03A-01W-0732-08		129093996	30044667	6	848											
RFX3	5991	genome.wustl.edu	37	9	3271010	3271010	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr9:3271010C>T	ENST00000382004.3	-	11	1506	c.1195G>A	c.(1195-1197)Gaa>Aaa	p.E399K	RFX3_ENST00000358730.2_Missense_Mutation_p.E399K|RFX3_ENST00000302303.1_Missense_Mutation_p.E399K	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	399					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GACCTCGATTCGGTAATGGTA	0.388																																						dbGAP											0			9											166	151	156					9																	3271010		2203	4300	6503	3261010	SO:0001583	missense	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1195G>A	9.37:g.3271010C>T	ENSP00000371434:p.Glu399Lys	386	0	0		11	38.89	7	3261010	93	42.24	68	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	HMMPfam_RFX_DNA_binding,HMMPfam_RFX1_trans_act,superfamily_"Winged helix" DNA-binding domain	p.E399K	ENST00000382004.3	37	c.1195	CCDS6449.1	9	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701281	0.48307	.	.	ENSG00000080298	ENST00000382004;ENST00000358730;ENST00000302303	T;T;T	0.07216	3.21;3.21;3.21	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	L	0.36672	1.1	0.80722	D	1	D;P;P	0.65815	0.995;0.457;0.702	D;B;B	0.68192	0.956;0.024;0.174	T	0.03566	-1.1024	10	0.06891	T	0.86	-15.3284	19.7151	0.96113	0.0:1.0:0.0:0.0	.	399;399;399	P48380-3;P48380-2;P48380	.;.;RFX3_HUMAN	K	399	ENSP00000371434:E399K;ENSP00000351574:E399K;ENSP00000303847:E399K	ENSP00000303847:E399K	E	-	1	0	RFX3	3261010	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.544000	0.60691	2.742000	0.94016	0.650000	0.86243	GAA	-	NULL		0.388	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	protein_coding	OTTHUMT00000051545.1	C	NM_002919		3261010	-1	no_errors	NM_134428.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	3271010	C	T	3271010	3	4	79	1	0	0	0	0	1	0	0	0	13264	893	31	1	1242	1	RFX3	9	3271010	Missense_Mutation	SNP	C	TCGA-AB-2885-03A-01W-0732-08		3271010	137942421	7	849											
MRE11A	4361	genome.wustl.edu	37	11	94192645	94192645	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr11:94192645G>C	ENST00000323929.3	-	13	1651	c.1429C>G	c.(1429-1431)Cag>Gag	p.Q477E	MRE11A_ENST00000323977.3_Missense_Mutation_p.Q477E|MRE11A_ENST00000407439.3_Missense_Mutation_p.Q480E|MRE11A_ENST00000393241.4_Missense_Mutation_p.Q477E	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	477					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TTTTCCAACTGGTATTTCACT	0.413								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													dbGAP											0			11											202	185	190					11																	94192645		2201	4298	6499	93832293	SO:0001583	missense	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"AT-like disease"	600814	"meiotic recombination (S. cerevisiae) 11 homolog A"	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1429C>G	11.37:g.94192645G>C	ENSP00000325863:p.Gln477Glu	331	0.3	1		53	39.77	35	93832293	165	31.4	76	O43475	Missense_Mutation	SNP	HMMPfam_Metallophos,HMMPfam_Mre11_DNA_bind,superfamily_Metallo-dependent phosphatases	p.Q477E	ENST00000323929.3	37	c.1429	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785108	0.90282	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.73681	-0.77;-0.77;-0.75;-0.77	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.79857	0.4518	M	0.64997	1.995	0.80722	D	1	D;B;P	0.56521	0.976;0.216;0.714	P;B;B	0.55785	0.784;0.284;0.406	T	0.73827	-0.3860	10	0.06365	T	0.9	-14.8465	20.0493	0.97618	0.0:0.0:1.0:0.0	.	480;477;477	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	E	477;480;477;477	ENSP00000325863:Q477E;ENSP00000385614:Q480E;ENSP00000326094:Q477E;ENSP00000376933:Q477E	ENSP00000325863:Q477E	Q	-	1	0	MRE11A	93832293	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	9.787000	0.99055	2.745000	0.94114	0.491000	0.48974	CAG	-	NULL		0.413	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	protein_coding	OTTHUMT00000396237.3	G	NM_005591		93832293	-1	no_errors	NM_005591.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	94192645	G	C	94192645	3	2	79	1	0	0	0	0	1	0	0	0	9759	1357	47	4	729	4	MRE11A	11	94192645	Missense_Mutation	SNP	G	TCGA-AB-2885-03A-01W-0732-08		94192645	40813871	8	850											
PTPN11	5781	genome.wustl.edu	37	12	112888163	112888163	+	Missense_Mutation	SNP	G	G	T	rs121918471|rs397507508|rs80338836|rs397507509		TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr12:112888163G>T	ENST00000351677.2	+	3	377	c.179G>T	c.(178-180)gGt>gTt	p.G60V	PTPN11_ENST00000392597.1_Missense_Mutation_p.G60V	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	60	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		G -> A (in NS1). {ECO:0000269|PubMed:11992261}.|G -> V (in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.G60V(20)|p.G60A(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAACACTGGTGATTACTAT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	21	Substitution - Missense(21)	haematopoietic_and_lymphoid_tissue(21)	12	GRCh37	CD041931|CM021126|CX060726	PTPN11	D|M|X	rs80338836						140	132	135					12																	112888163		2203	4300	6503	111372546	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.179G>T	12.37:g.112888163G>T	ENSP00000340944:p.Gly60Val	62	0	0		75	38.52	47	111372546	52	23.19	16	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.G60V	ENST00000351677.2	37	c.179	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.185189	0.94885	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96856	-4.15;-4.15	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.99170	1.0864	10	0.87932	D	0	.	20.2787	0.98501	0.0:0.0:1.0:0.0	.	60;60	Q06124-2;Q06124-3	.;.	V	60	ENSP00000376376:G60V;ENSP00000340944:G60V	ENSP00000340944:G60V	G	+	2	0	PTPN11	111372546	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.860000	0.99555	2.798000	0.96311	0.650000	0.86243	GGT	-	HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain		0.418	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	G			111372546	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	112888163	G	T	112888163	3	4	79	1	0	0	0	0	1	0	0	0	12780	1261	44	4	189	4	PTPN11	12	112888163	Missense_Mutation	SNP	G	TCGA-AB-2885-03A-01W-0732-08		112888163	20963732	9	851											
TP53	7157	genome.wustl.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGATAAGATGCTGAGGAGGG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)	17											95	85	88					17																	7578272		2203	4300	6503	7518997	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr	161	0	0		1	99.33	149	7518997	17	79.07	68	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.H193Y	ENST00000269305.4	37	c.577	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7518997	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	7578272	G	A	7578272	3	1	79	1	0	0	0	0	1	0	0	0	16378	1319	46	2	717	2	TP53	17	7578272	Missense_Mutation	SNP	G	TCGA-AB-2885-03A-01W-0732-08		7578272	73616938	10	852											
ASXL3	80816	genome.wustl.edu	37	18	31314300	31314300	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr18:31314300C>T	ENST00000269197.5	+	10	1003	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	335					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATGCAGTTGCGGATAAGGCA	0.303																																						dbGAP											0			18											55	54	55					18																	31314300		1796	4059	5855	29568298	SO:0001583	missense	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"KIAA1713", "additional sex combs like 3 (Drosophila)"	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.1003C>T	18.37:g.31314300C>T	ENSP00000269197:p.Arg335Trp	131	0	0					29568298	15	72.22	39	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	NULL	p.R335W	ENST00000269197.5	37	c.1003	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843961	0.91197	.	.	ENSG00000141431	ENST00000269197	T	0.36157	1.27	5.71	5.71	0.89125	.	0.262703	0.32608	N	0.005861	T	0.62780	0.2456	M	0.71036	2.16	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	T	0.64245	-0.6453	10	0.87932	D	0	.	19.8549	0.96755	0.0:1.0:0.0:0.0	.	335	Q9C0F0	ASXL3_HUMAN	W	335	ENSP00000269197:R335W	ENSP00000269197:R335W	R	+	1	2	ASXL3	29568298	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.621000	0.67743	2.699000	0.92147	0.460000	0.39030	CGG	-	NULL		0.303	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	protein_coding	OTTHUMT00000441865.2	C			29568298	1	no_errors	NM_030632.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	31314300	C	T	31314300	3	4	79	1	0	0	0	0	1	0	0	0	1068	759	27	1	1041	1	ASXL3	18	31314300	Missense_Mutation	SNP	C	TCGA-AB-2885-03A-01W-0732-08		31314300	46762948	11	853											
PTPRT	11122	genome.wustl.edu	37	20	40747084	40747084	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chr20:40747084C>T	ENST00000373187.1	-	21	2940	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	PTPRT_ENST00000356100.2_Missense_Mutation_p.A990T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A984T|PTPRT_ENST00000373198.4_Missense_Mutation_p.A1000T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A971T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A971T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A980T			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	981	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGATGCTGGCGGAGTTCTCC	0.532																																						dbGAP											0			20											95	94	95					20																	40747084		2019	4185	6204	40180498	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2941G>A	20.37:g.40747084C>T	ENSP00000362283:p.Ala981Thr	234	0	0					40180498	58	40.21	39	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II	p.A1000T	ENST00000373187.1	37	c.2998	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	C	19.32	3.804244	0.70682	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71	5.43	5.43	0.79202	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.111536	0.64402	D	0.000012	T	0.29061	0.0722	N	0.16656	0.425	0.58432	D	0.999994	D;D	0.63880	0.991;0.993	P;P	0.52627	0.67;0.704	T	0.05321	-1.0892	10	0.51188	T	0.08	.	19.2449	0.93898	0.0:1.0:0.0:0.0	.	1003;981	O14522-1;O14522	.;PTPRT_HUMAN	T	980;981;984;990;1003;971;971	ENSP00000362286:A980T;ENSP00000362283:A981T;ENSP00000362289:A984T;ENSP00000348408:A990T;ENSP00000362294:A1003T;ENSP00000362280:A971T;ENSP00000362297:A971T	ENSP00000348408:A990T	A	-	1	0	PTPRT	40180498	0.993000	0.37304	0.956000	0.39512	0.959000	0.62525	3.099000	0.50267	2.560000	0.86352	0.561000	0.74099	GCC	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II		0.532	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	C			40180498	-1	no_errors	NM_133170.5	genbank	human	reviewed	54_36p	missense	SNP	0.987	T	T	40747084	C	T	40747084	3	4	79	1	0	0	0	0	1	0	0	0	12812	768	27	1	1428	1	PTPRT	20	40747084	Missense_Mutation	SNP	C	TCGA-AB-2885-03A-01W-0732-08		40747084	22278436	12	854											
MTMR8	55613	genome.wustl.edu	37	X	63574712	63574712	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2885-03A-01W-0732-08	TCGA-AB-2885-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d5c78933-a17c-449c-a24d-730ea0f7a9cd	f62da227-622a-4139-9229-acd0939a17c3	g.chrX:63574712C>T	ENST00000374852.3	-	4	480	c.413G>A	c.(412-414)cGt>cAt	p.R138H	MTMR8_ENST00000453546.1_Missense_Mutation_p.R138H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	138	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TATTCCCATACGCCCAAAGTC	0.378																																						dbGAP											1	Whole gene deletion(1)	ovary(1)	X											157	123	135					X																	63574712		2203	4300	6503	63491437	SO:0001583	missense	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.413G>A	X.37:g.63574712C>T	ENSP00000363985:p.Arg138His	199	1.97	4		0	100	3	63491437	14	77.94	53	Q5JT99|Q9NXP6	Missense_Mutation	SNP	HMMSmart_SM00404,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II	p.R138H	ENST00000374852.3	37	c.413	CCDS14379.1	X	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784315	0.49997	.	.	ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400	D;D	0.95949	-3.86;-3.86	2.67	0.83	0.18854	Myotubularin phosphatase domain (1);	0.000000	0.42682	U	0.000668	D	0.94905	0.8353	H	0.95950	3.745	0.23459	N	0.997637	B;P	0.52842	0.018;0.956	B;B	0.41691	0.001;0.364	D	0.87198	0.2239	10	0.17369	T	0.5	.	5.6204	0.17453	0.1941:0.6863:0.0:0.1196	.	138;138	B4DQL0;Q96EF0	.;MTMR8_HUMAN	H	138;138;137	ENSP00000394003:R138H;ENSP00000363985:R138H	ENSP00000247400:R137H	R	-	2	0	MTMR8	63491437	0.982000	0.34865	0.051000	0.19133	0.763000	0.43281	2.226000	0.42963	0.096000	0.17463	0.506000	0.49869	CGT	-	superfamily_(Phosphotyrosine protein) phosphatases II		0.378	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	protein_coding	OTTHUMT00000056949.2	C	NM_017677		63491437	-1	no_errors	NM_017677.2	genbank	human	provisional	54_36p	missense	SNP	0.799	T	T	63574712	C	T	63574712	3	4	79	1	0	0	0	0	1	0	0	0	9949	536	19	1	1745	1	MTMR8	23	63574712	Missense_Mutation	SNP	C	TCGA-AB-2885-03A-01W-0732-08		63574712	91695848	13	855											
CNTNAP5	129684	genome.wustl.edu	37	2	125175092	125175092	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr2:125175092G>T	ENST00000431078.1	+	4	818	c.454G>T	c.(454-456)Gtt>Ttt	p.V152F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	152	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCCCGATTTGTTCGCTTTGT	0.498																																						dbGAP											0			2											96	100	99					2																	125175092		1990	4172	6162	124891562	SO:0001583	missense	0			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.454G>T	2.37:g.125175092G>T	ENSP00000399013:p.Val152Phe	170	0	0					124891562	154	45.8	131	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_LamG,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen_a/b/g_C,HMMPfam_EGF,HMMSmart_EGF,superfamily_Gal_bind_like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2	p.V152F	ENST00000431078.1	37	c.454	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504125	0.64410	.	.	ENSG00000155052	ENST00000431078	D	0.98585	-5.01	6.17	-6.25	0.02039	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.767069	0.11093	N	0.600490	D	0.96898	0.8987	M	0.81179	2.53	0.36647	D	0.877152	P	0.35363	0.497	B	0.39503	0.301	D	0.91528	0.5240	10	0.87932	D	0	.	9.7379	0.40399	0.4913:0.3858:0.1229:0.0	.	152	Q8WYK1	CNTP5_HUMAN	F	152	ENSP00000399013:V152F	ENSP00000399013:V152F	V	+	1	0	CNTNAP5	124891562	0.005000	0.15991	0.001000	0.08648	0.952000	0.60782	0.076000	0.14712	-1.035000	0.03291	0.655000	0.94253	GTT	-	HMMPfam_F5_F8_type_C,HMMSmart_FA58C,superfamily_Gal_bind_like		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	protein_coding	OTTHUMT00000330864.3	G			124891562	1	no_errors	NM_130773.2	genbank	human	reviewed	54_36p	missense	SNP	0.957	T	T	125175092	G	T	125175092	3	4	80	1	0	0	0	0	1	0	0	0	3650	1377	48	4	468	4	CNTNAP5	2	125175092	Missense_Mutation	SNP	G	TCGA-AB-2886-03A-01W-0732-08		125175092	118024281	1	856											
GIGYF2	26058	genome.wustl.edu	37	2	233681680	233681681	+	Frame_Shift_Ins	INS	-	-	GGCT	rs149585458		TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	-	-	-	GGCT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr2:233681680_233681681insGGCT	ENST00000409547.1	+	22	2619_2620	c.2308_2309insGGCT	c.(2308-2310)cggfs	p.-770fs	GIGYF2_ENST00000373566.3_Frame_Shift_Ins_p.-792fs|GIGYF2_ENST00000452341.2_Frame_Shift_Ins_p.-601fs|GIGYF2_ENST00000409480.1_Frame_Shift_Ins_p.-792fs|GIGYF2_ENST00000409451.3_Frame_Shift_Ins_p.-791fs|GIGYF2_ENST00000373563.4_Frame_Shift_Ins_p.-770fs|GIGYF2_ENST00000409196.3_Frame_Shift_Ins_p.-764fs	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2						adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGAAATTCTTCGGCGACAGCAG	0.49																																						dbGAP											0			2																																								233389925	SO:0001589	frameshift_variant	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"Trinucleotide (CAG) repeat containing"	11960	protein-coding gene	gene with protein product	"GYF domain containing 2"	612003	"PERQ amino acid rich, with GYF domain 2", "PERQ amino acid rich, with GYF domain 3", "trinucleotide repeat containing 15", "Parkinson disease (autosomal recessive, early onset) 11"	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	Exception_encountered	2.37:g.233681680_233681681insGGCT	ENSP00000386537:p.Arg770fs								233389924				A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Frame_Shift_Ins	INS	HMMPfam_GYF,HMMSmart_GYF,superfamily_GYF	p.R792fs	ENST00000409547.1	37	c.2371_2372	CCDS33401.1	2																																																																																			-	NULL		0.49	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	protein_coding	OTTHUMT00000330316.2	-	NM_001103146		233389925	1	no_errors	NM_001103147.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.997:1.000	GGCT	GGCT	233681681	-	GGCT	233681680	7	5	80	1	0	1	1	0	0	0	0	0	6378	875	31	0	2448	0	GIGYF2	2	233681680	Frame_Shift_Ins	INS	-	TCGA-AB-2886-03A-01W-0732-08	108506588	233681680	9517693	2	857											
PLXND1	23129	genome.wustl.edu	37	3	129303234	129303235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr3:129303234_129303235insG	ENST00000324093.4	-	6	2200_2201	c.2022_2023insC	c.(2020-2025)cccaacfs	p.N675fs	PLXND1_ENST00000393239.1_Frame_Shift_Ins_p.N675fs	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	675					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TTACCCTGGTTGGGGGGGAAGG	0.639																																					Ovarian(97;366 1484 3738 22084 39045)	dbGAP											0			3																																								130785925	SO:0001589	frameshift_variant	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"Plexins"	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.2023dupC	3.37:g.129303241_129303241dupG	ENSP00000317128:p.Asn675fs	23	0	0		259	0	0	130785924	60	10.45	7	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Frame_Shift_Ins	INS	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,superfamily_GTPase activation domain GAP,HMMPfam_Plexin_cytopl,superfamily_E set domains,superfamily_Plexin repeat	p.N674fs	ENST00000324093.4	37	c.2023_2022	CCDS33854.1	3																																																																																			-	NULL		0.639	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	protein_coding	OTTHUMT00000356132.4	-	NM_015103		130785925	-1	no_errors	NM_015103.2	genbank	human	validated	54_36p	frame_shift_ins	INS	0.280:0.287	G	G	129303235	-	G	129303234	7	5	80	1	0	1	1	0	0	0	0	0	12127	1812	63	0	3878	0	PLXND1	3	129303234	Frame_Shift_Ins	INS	-	TCGA-AB-2886-03A-01W-0732-08		129303234	68719196	3	858											
ITPR3	3710	genome.wustl.edu	37	6	33638467	33638467	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr6:33638467G>A	ENST00000374316.5	+	21	3521	c.2461G>A	c.(2461-2463)Gcg>Acg	p.A821T	ITPR3_ENST00000605930.1_Missense_Mutation_p.A821T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	821					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.A821T(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CAACCTCAACGCGTCCCGAGA	0.582																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)	6											136	110	119					6																	33638467		2203	4300	6503	33746445	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"Ion channels / Inositol triphosphate receptors"	6182	protein-coding gene	gene with protein product		147267	"inositol 1,4,5-triphosphate receptor, type 3"			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2461G>A	6.37:g.33638467G>A	ENSP00000363435:p.Ala821Thr	28	3.45	1		6	0	0	33746445	34	24.44	11	Q14649|Q5TAQ2	Missense_Mutation	SNP	HMMPfam_RYDR_ITPR,HMMPfam_MIR,superfamily_MIR,HMMPfam_Ion_trans,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_MIR,superfamily_SSF100909	p.A821T	ENST00000374316.5	37	c.2461	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599315	0.13939	.	.	ENSG00000096433	ENST00000374316	D	0.91996	-2.95	4.69	3.81	0.43845	.	0.195319	0.42682	D	0.000680	T	0.65544	0.2701	N	0.12887	0.27	0.25315	N	0.989164	B	0.12630	0.006	B	0.06405	0.002	T	0.55147	-0.8186	10	0.11794	T	0.64	-19.569	7.7251	0.28755	0.2562:0.0:0.7438:0.0	.	821	Q14573	ITPR3_HUMAN	T	821	ENSP00000363435:A821T	ENSP00000363435:A821T	A	+	1	0	ITPR3	33746445	0.986000	0.35501	0.916000	0.36221	0.739000	0.42172	4.351000	0.59398	0.964000	0.38108	0.462000	0.41574	GCG	-	NULL		0.582	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	protein_coding	OTTHUMT00000040204.2	G	NM_002224		33746445	1	no_errors	NM_002224.2	genbank	human	validated	54_36p	missense	SNP	0.921	A	A	33638467	G	A	33638467	3	1	80	1	0	0	0	0	1	0	0	0	7922	1087	38	1	2539	1	ITPR3	6	33638467	Missense_Mutation	SNP	G	TCGA-AB-2886-03A-01W-0732-08		33638467	137476600	4	859											
DNAH11	8701	genome.wustl.edu	37	7	21784673	21784673	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr7:21784673G>T	ENST00000409508.3	+	51	8533	c.8502G>T	c.(8500-8502)atG>atT	p.M2834I	DNAH11_ENST00000328843.6_Missense_Mutation_p.M2841I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2841	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGATGCCATGCAACATGTGT	0.398									Kartagener syndrome																													dbGAP											0			7											79	74	76					7																	21784673		1954	4168	6122	21751198	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"Axonemal dyneins"	2942	protein-coding gene	gene with protein product	"dynein, ciliary, heavy chain 11", "dynein, heavy chain beta-like"	603339	"dynein, axonemal, heavy polypeptide 11"			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8502G>T	7.37:g.21784673G>T	ENSP00000475939:p.Met2834Ile	82	0	0					21751198	111	15.15	20	Q9UJ82	Missense_Mutation	SNP	PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,PatternScan_WD_REPEATS_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.M2841I	ENST00000409508.3	37	c.8523		7	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509297	0.27036	.	.	ENSG00000105877	ENST00000328843	T	0.36157	1.27	5.4	5.4	0.78164	Dynein heavy chain, P-loop containing D4 domain (1);	0.169822	0.64402	D	0.000007	T	0.26376	0.0644	.	.	.	0.47547	D	0.999455	B	0.22851	0.076	B	0.26517	0.07	T	0.06862	-1.0803	9	0.18276	T	0.48	.	13.1485	0.59477	0.0774:0.0:0.9226:0.0	.	2841	Q96DT5	DYH11_HUMAN	I	2841	ENSP00000330671:M2841I	ENSP00000330671:M2841I	M	+	3	0	DNAH11	21751198	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	4.357000	0.59436	2.538000	0.85594	0.655000	0.94253	ATG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.398	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	protein_coding	OTTHUMT00000326582.6	G	NM_003777		21751198	1	no_errors	ENST00000328843	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	21784673	G	T	21784673	3	4	80	1	0	0	0	0	1	0	0	0	4599	1319	46	4	8726	4	DNAH11	7	21784673	Missense_Mutation	SNP	G	TCGA-AB-2886-03A-01W-0732-08		21784673	137353990	5	860											
CLCN1	1180	genome.wustl.edu	37	7	143029829	143029829	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr7:143029829G>A	ENST00000343257.2	+	12	1351	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	422					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E422K(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GATGCCCCGCGAAGCCATCAG	0.517																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)	7											168	160	163					7																	143029829		2203	4300	6503	142739951	SO:0001583	missense	0			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"Ion channels / Chloride channels : Voltage-sensitive"	2019	protein-coding gene	gene with protein product	"Thomsen disease, autosomal dominant"	118425	"chloride channel 1, skeletal muscle"			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1264G>A	7.37:g.143029829G>A	ENSP00000339867:p.Glu422Lys	220	0.9	2					142739951	107	34.34	57	A4D2H5|Q2M202	Missense_Mutation	SNP	HMMPfam_CBS,HMMPfam_Voltage_CLC,superfamily_Clc chloride channel,superfamily_CBS-domain	p.E422K	ENST00000343257.2	37	c.1264	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.786463	0.90367	.	.	ENSG00000188037	ENST00000343257	D	0.93659	-3.26	5.36	5.36	0.76844	Chloride channel, core (2);	0.097447	0.64402	D	0.000001	D	0.96457	0.8844	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.96407	0.9301	10	0.62326	D	0.03	.	19.4395	0.94813	0.0:0.0:1.0:0.0	.	422	P35523	CLCN1_HUMAN	K	422	ENSP00000339867:E422K	ENSP00000339867:E422K	E	+	1	0	CLCN1	142739951	1.000000	0.71417	0.961000	0.40146	0.497000	0.33675	9.804000	0.99143	2.683000	0.91414	0.643000	0.83706	GAA	-	HMMPfam_Voltage_CLC,superfamily_Clc chloride channel		0.517	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	protein_coding	OTTHUMT00000327420.1	G	NM_000083		142739951	1	no_errors	NM_000083.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	143029829	G	A	143029829	3	1	80	1	0	0	0	0	1	0	0	0	3462	1059	37	1	1310	1	CLCN1	7	143029829	Missense_Mutation	SNP	G	TCGA-AB-2886-03A-01W-0732-08	121245156	143029829	16108834	6	861											
RAD21	5885	genome.wustl.edu	37	8	117864298	117864298	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr8:117864298delC	ENST00000297338.2	-	11	1646	c.1359delG	c.(1357-1359)gagfs	p.E453fs	RAD21_ENST00000517749.1_5'Flank|RAD21_ENST00000518055.1_5'UTR|RAD21_ENST00000523986.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	453					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCATCACTGACTCCTGGAGGC	0.463																																						dbGAP											0			8											79	72	74					8																	117864298		2203	4300	6503	117933479	SO:0001589	frameshift_variant	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.1359delG	8.37:g.117864298delC	ENSP00000297338:p.Glu453fs	79	1.23	1		22	0	0	117933479	64	41.44	46	A8K0E0|Q15001|Q99568	Frame_Shift_Del	DEL	HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N	p.E453fs	ENST00000297338.2	37	c.1359	CCDS6321.1	8																																																																																			-	NULL		0.463	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	protein_coding	OTTHUMT00000381184.1	C	NM_006265		117933479	-1	no_errors	NM_006265.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.960	-	-	117864298	C	-	117864298	7	5	80	1	0	1	0	1	0	0	0	0	12981	564	20	0	552	0	RAD21	8	117864298	Frame_Shift_Del	DEL	C	TCGA-AB-2886-03A-01W-0732-08		117864298	28499724	7	862											
KIAA1529	100499483	genome.wustl.edu	37	9	100077177	100077177	+	Silent	SNP	T	T	C			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr9:100077177T>C	ENST00000357054.1	+	22	2228	c.1293T>C	c.(1291-1293)acT>acC	p.T431T	CCDC180_ENST00000529487.1_Silent_p.T292T|CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Silent_p.T431T|CCDC180_ENST00000411667.2_Silent_p.T289T|CCDC180_ENST00000375202.2_Silent_p.T292T			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	431						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TAGAGAAAACTTCCTACCTCA	0.468																																						dbGAP											0			9											98	93	95					9																	100077177		2203	4300	6503	99116998	SO:0001819	synonymous_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1293T>C	9.37:g.100077177T>C		40	0	0		7	0	0	99116998	37	9.76	4	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	NULL	p.T431	ENST00000357054.1	37	c.1293		9																																																																																			-	NULL		0.468	CCDC180-201	KNOWN	basic	protein_coding	KIAA1529	protein_coding		T	NM_020893		99116998	1	no_errors	NM_020893.1	genbank	human	predicted	54_36p	silent	SNP	0.170	C	C	100077177	T	C	100077177	2	2	80	1	0	0	0	0	0	0	0	1	8240	1596	56	3		3	KIAA1529	9	100077177	Silent	SNP	T	TCGA-AB-2886-03A-01W-0732-08		100077177	41136254	8	863											
RAP1B	5908	genome.wustl.edu	37	12	69042539	69042539	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr12:69042539G>A	ENST00000250559.9	+	2	266	c.35G>A	c.(34-36)gGa>gAa	p.G12E	RAP1B_ENST00000393436.5_Missense_Mutation_p.G12E|RAP1B_ENST00000341355.5_Missense_Mutation_p.G12E|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000540209.1_Missense_Mutation_p.G12E|RAP1B_ENST00000537460.1_Missense_Mutation_p.G12E|RAP1B_ENST00000543697.1_Missense_Mutation_p.G12E|RAP1B_ENST00000539091.1_Missense_Mutation_p.G12E|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.G12E|RAP1B_ENST00000450214.2_Missense_Mutation_p.G12E|RAP1B_ENST00000541216.1_Missense_Mutation_p.G12E|RAP1B_ENST00000378985.3_Intron	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	12					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		CTTGGCTCAGGAGGCGTTGGA	0.363																																						dbGAP											0			12											106	87	94					12																	69042539		2203	4300	6503	67328806	SO:0001583	missense	0				CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.35G>A	12.37:g.69042539G>A	ENSP00000250559:p.Gly12Glu	90	0	0		50	40.48	34	67328806	55	23.29	17	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12E	ENST00000250559.9	37	c.35	CCDS8984.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.389856	0.95988	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000422358;ENST00000541167;ENST00000538283;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000542018;ENST00000534899;ENST00000453560;ENST00000540209;ENST00000540781;ENST00000539091;ENST00000542145;ENST00000485252;ENST00000456697;ENST00000538877;ENST00000543697;ENST00000545720;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14;-0.51;-1.14;-1.14;-1.14;-1.14;-0.51;-1.14;-0.51;-1.14;-1.14;-1.14;-1.14;-1.14;-1.14	5.34	5.34	0.76211	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.90019	3.08	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.97110	1.0;0.931;1.0;1.0	D	0.91315	0.5077	9	.	.	.	.	19.9349	0.97133	0.0:0.0:1.0:0.0	.	12;12;12;12	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	E	12	ENSP00000250559:G12E;ENSP00000377085:G12E;ENSP00000401095:G12E;ENSP00000390972:G12E;ENSP00000445138:G12E;ENSP00000444786:G12E;ENSP00000441275:G12E;ENSP00000439966:G12E;ENSP00000399986:G12E;ENSP00000437415:G12E;ENSP00000438088:G12E;ENSP00000441952:G12E;ENSP00000444060:G12E;ENSP00000446318:G12E;ENSP00000440466:G12E;ENSP00000444830:G12E;ENSP00000440014:G12E;ENSP00000444924:G12E;ENSP00000440635:G12E;ENSP00000440708:G12E;ENSP00000438311:G12E;ENSP00000443851:G12E	.	G	+	2	0	RAP1B	67328806	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.880000	0.98712	0.650000	0.86243	GGA	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.363	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP1B	protein_coding	OTTHUMT00000257821.3	G	NM_001010942		67328806	1	no_errors	NM_001010942.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	69042539	G	A	69042539	3	1	80	1	0	0	0	0	1	0	0	0	13036	1174	41	2	37	2	RAP1B	12	69042539	Missense_Mutation	SNP	G	TCGA-AB-2886-03A-01W-0732-08		69042539	64809356	9	864											
PKD1L2	114780	genome.wustl.edu	37	16	81190547	81190547	+	RNA	SNP	C	C	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr16:81190547C>T	ENST00000525539.1	-	0	4041				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACGGTGGTCACGACCACAGGG	0.572																																						dbGAP											0			16											62	66	65					16																	81190547		2170	4269	6439	79748048			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81190547C>T		76	1.27	1					79748048	27	40	18	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like	p.V1348M	ENST00000525539.1	37	c.4042		16																																																																																			-	NULL		0.572	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	polymorphic_pseudogene	OTTHUMT00000387972.2	C			79748048	-1	no_errors	ENST00000299598	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	81190547	C	T	81190547	1	4	80	0	1	0	0	0	0	0	0	0	11965	536	19	1		1	PKD1L2	16	81190547	RNA	SNP	C	TCGA-AB-2886-03A-01W-0732-08		81190547	9164206	10	865											
MYO5B	4645	genome.wustl.edu	37	18	47369719	47369719	+	Silent	SNP	G	G	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr18:47369719G>A	ENST00000285039.7	-	34	4802	c.4503C>T	c.(4501-4503)ccC>ccT	p.P1501P	MYO5B_ENST00000324581.6_Silent_p.P616P|MYO5B_ENST00000592688.1_Silent_p.P71P|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1501					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGATGTAGGCGGGGAGACAGG	0.557																																						dbGAP											0			18											83	84	83					18																	47369719		2069	4205	6274	45623717	SO:0001819	synonymous_variant	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"Myosins / Myosin superfamily : Class V"	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4503C>T	18.37:g.47369719G>A		59	0	0					45623717	67	38.53	42	B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_DIL,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.P1501	ENST00000285039.7	37	c.4503	CCDS42436.1	18																																																																																			-	NULL		0.557	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	protein_coding	OTTHUMT00000448515.2	G			45623717	-1	no_errors	NM_001080467.1	genbank	human	provisional	54_36p	silent	SNP	0.634	A	A	47369719	G	A	47369719	2	1	80	1	0	0	0	0	0	0	0	1	10079	1103	39	1		1	MYO5B	18	47369719	Silent	SNP	G	TCGA-AB-2886-03A-01W-0732-08		47369719	30707529	11	866											
JAK3	3718	genome.wustl.edu	37	19	17949108	17949108	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr19:17949108C>T	ENST00000527670.1	-	10	1562	c.1533G>A	c.(1531-1533)atG>atA	p.M511I	JAK3_ENST00000534444.1_Missense_Mutation_p.M511I|JAK3_ENST00000458235.1_Missense_Mutation_p.M511I|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	511					B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.M511I(4)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGTGAAATGTCATCTGACTCA	0.552		2	Mis		"acute megakaryocytic leukemia, ETP ALL"																																	dbGAP		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(4)	19											243	228	233					19																	17949108		2203	4300	6503	17810108	SO:0001583	missense	0			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"tyrosine-protein kinase JAK3", "leukocyte Janus kinase"	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1533G>A	19.37:g.17949108C>T	ENSP00000432511:p.Met511Ile	108	0	0		229	18.51	52	17810108	72	14.12	12	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	PatternScan_THIOL_PROTEASE_HIS,HMMSmart_SM00252,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMSmart_SM00295,superfamily_SH2 domain	p.M511I	ENST00000527670.1	37	c.1533	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987714	0.35036	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.61274	0.12;0.12;0.12	4.65	4.65	0.58169	Protein kinase-like domain (1);	0.110832	0.64402	D	0.000015	T	0.51517	0.1679	L	0.48877	1.53	0.37776	D	0.926842	B;B	0.27732	0.187;0.02	B;B	0.26864	0.074;0.004	T	0.57441	-0.7811	10	0.45353	T	0.12	-18.6683	15.0314	0.71710	0.0:1.0:0.0:0.0	.	511;511	P52333-2;P52333	.;JAK3_HUMAN	I	511	ENSP00000391676:M511I;ENSP00000432511:M511I;ENSP00000436421:M511I	ENSP00000413248:M511I	M	-	3	0	JAK3	17810108	1.000000	0.71417	0.955000	0.39395	0.434000	0.31775	3.116000	0.50399	2.141000	0.66446	0.313000	0.20887	ATG	-	superfamily_Protein kinase-like (PK-like),superfamily_SH2 domain		0.552	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	protein_coding	OTTHUMT00000385549.1	C	NM_000215		17810108	-1	no_errors	NM_000215.3	genbank	human	reviewed	54_36p	missense	SNP	0.993	T	T	17949108	C	T	17949108	3	4	80	1	0	0	0	0	1	0	0	0	7939	826	29	2	1897	2	JAK3	19	17949108	Missense_Mutation	SNP	C	TCGA-AB-2886-03A-01W-0732-08		17949108	41179875	12	867											
TSKS	60385	genome.wustl.edu	37	19	50243431	50243431	+	Missense_Mutation	SNP	G	G	A	rs368573101		TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr19:50243431G>A	ENST00000246801.3	-	10	1589	c.1507C>T	c.(1507-1509)Cgc>Tgc	p.R503C	TSKS_ENST00000358830.3_Missense_Mutation_p.R303C	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	503					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AAGGCCTGGCGCTCCAGCTCC	0.662																																						dbGAP											0			19						G	CYS/ARG	0,4406		0,0,2203	37	40	39		1507	3.8	1	19		39	1,8599	1.2+/-3.3	0,1,4299	no	missense	TSKS	NM_021733.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	503/593	50243431	1,13005	2203	4300	6503	54935243	SO:0001583	missense	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 161"	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.1507C>T	19.37:g.50243431G>A	ENSP00000246801:p.Arg503Cys	87	0	0		9	10	1	54935243	82	10.75	10	Q8WXJ0	Missense_Mutation	SNP	NULL	p.R503C	ENST00000246801.3	37	c.1507	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359745	0.61403	0.0	1.16E-4	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.36699	1.24;1.24	4.81	3.77	0.43336	.	0.263284	0.27345	N	0.019797	T	0.23171	0.0560	N	0.24115	0.695	0.44711	D	0.997703	B	0.28512	0.214	B	0.23852	0.049	T	0.08534	-1.0717	10	0.87932	D	0	-6.5782	8.8817	0.35378	0.1015:0.0:0.8985:0.0	.	503	Q9UJT2	TSKS_HUMAN	C	503;303	ENSP00000246801:R503C;ENSP00000351691:R303C	ENSP00000246801:R503C	R	-	1	0	TSKS	54935243	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	4.687000	0.61708	1.248000	0.43934	-0.192000	0.12808	CGC	-	NULL		0.662	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	protein_coding	OTTHUMT00000465795.1	G	NM_021733		54935243	-1	no_errors	NM_021733.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	50243431	G	A	50243431	3	1	80	1	0	0	0	0	1	0	0	0	16623	1087	38	1	279	1	TSKS	19	50243431	Missense_Mutation	SNP	G	TCGA-AB-2886-03A-01W-0732-08	32294323	50243431	8885552	13	868											
PI4KA	5297	genome.wustl.edu	37	22	21107281	21107281	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2886-03A-01W-0732-08	TCGA-AB-2886-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	702a5002-ba2b-4968-bd1c-81f0eeb119ed	44b7e43b-2907-4b6e-8341-c1e2aece5328	g.chr22:21107281C>A	ENST00000572273.1	-	25	2953	c.2723G>T	c.(2722-2724)cGg>cTg	p.R908L	PI4KA_ENST00000466162.1_5'Flank|PI4KA_ENST00000255882.6_Missense_Mutation_p.R966L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	908					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGAGCGTGCCGCTCCAGCTC	0.522																																					GBM(136;1332 1831 3115 23601 50806)	dbGAP											0			22											141	127	132					22																	21107281		2203	4300	6503	19437281	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2723G>T	22.37:g.21107281C>A	ENSP00000458238:p.Arg908Leu	58	0	0		72	43.41	56	19437281	70	33.64	37	Q7Z625|Q9UPG2	Missense_Mutation	SNP	HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_PI3Ka,HMMSmart_SM00145,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2	p.R908L	ENST00000572273.1	37	c.2723		22	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795843	0.70452	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.53981	0.1830	L	0.29908	0.895	0.80722	D	1	B	0.25007	0.116	B	0.30105	0.111	T	0.47971	-0.9075	9	0.25751	T	0.34	-25.5307	18.5699	0.91132	0.0:1.0:0.0:0.0	.	908	P42356	PI4KA_HUMAN	L	908	.	ENSP00000255882:R908L	R	-	2	0	PI4KA	19437281	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.560000	0.82277	2.640000	0.89533	0.655000	0.94253	CGG	-	NULL		0.522	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		C	NM_058004		19437281	-1	no_errors	NM_058004.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	21107281	C	A	21107281	3	1	80	1	0	0	0	0	1	0	0	0	11873	652	23	4	3535	4	PI4KA	22	21107281	Missense_Mutation	SNP	C	TCGA-AB-2886-03A-01W-0732-08		21107281	30197285	14	869											
NRAS	4893	genome.wustl.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	rs121913237		TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	1						C	ASP/GLY	0,4406		0,0,2203	206	184	191	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	35	5.6	1	1	dbSNP_133	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRAS	NM_002524.4	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/190	115258747	1,13005	2203	4300	6503	115060270	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.35G>A	1.37:g.115258747C>T	ENSP00000358548:p.Gly12Asp	123	7.41	10		29	42	21	115060270	54	42.71	41	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12D	ENST00000369535.4	37	c.35	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.524414	0.96431	0.0	1.16E-4	ENSG00000213281	ENST00000369535	T	0.78595	-1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85252	0.5654	M	0.92604	3.325	0.80722	D	1	B	0.32467	0.372	B	0.42827	0.399	D	0.86173	0.1601	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	D	12	ENSP00000358548:G12D	ENSP00000358548:G12D	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060270	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115258747	C	T	115258747	3	4	81	1	0	0	0	0	1	0	0	0	10640	507	18	2	550	2	NRAS	1	115258747	Missense_Mutation	SNP	C	TCGA-AB-2887-03A-01W-0732-08		115258747	133991874	1	870											
TMEM18	129787	genome.wustl.edu	37	2	677320	677320	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr2:677320G>C	ENST00000281017.3	-	1	119	c.26C>G	c.(25-27)tCt>tGt	p.S9C	TMEM18_ENST00000405941.3_5'Flank|AC092159.2_ENST00000435573.1_RNA|TMEM18_ENST00000355654.2_5'Flank|AC092159.2_ENST00000445418.1_RNA	NM_152834.2	NP_690047.2	Q96B42	TMM18_HUMAN	transmembrane protein 18	9					cell migration (GO:0016477)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GACGGGGAAAGAGCTGACAGA	0.662																																						dbGAP											0			2											53	39	44					2																	677320		2203	4300	6503	667320	SO:0001583	missense	0			AL137269	CCDS33141.1	2p25.3	2008-02-05			ENSG00000151353	ENSG00000151353			25257	protein-coding gene	gene with protein product		613220				12477932	Standard	NM_152834		Approved	DKFZp434C1714	uc002qwl.3	Q96B42	OTTHUMG00000151381	ENST00000281017.3:c.26C>G	2.37:g.677320G>C	ENSP00000281017:p.Ser9Cys	44	8.16	4		12	47.83	11	667320	23	46.51	20	D6W4X9|Q8N5H2|Q9NTH3	Missense_Mutation	SNP	NULL	p.S9C	ENST00000281017.3	37	c.26	CCDS33141.1	2	.	.	.	.	.	.	.	.	.	.	G	3.114	-0.182105	0.06340	.	.	ENSG00000151353	ENST00000281017	.	.	.	3.43	-0.749	0.11084	.	2.992620	0.00870	N	0.002006	T	0.33000	0.0848	L	0.56769	1.78	0.09310	N	0.999994	P	0.36249	0.545	B	0.35073	0.195	T	0.18178	-1.0345	9	0.56958	D	0.05	.	1.9122	0.03290	0.1082:0.1711:0.3708:0.3499	.	9	Q96B42	TMM18_HUMAN	C	9	.	ENSP00000281017:S9C	S	-	2	0	TMEM18	667320	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.252000	0.08806	-0.169000	0.10834	0.585000	0.79938	TCT	-	NULL		0.662	TMEM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM18	protein_coding	OTTHUMT00000322427.1	G	NM_152834		667320	-1	no_errors	NM_152834.2	genbank	human	validated	54_36p	missense	SNP	0.002	C	C	677320	G	C	677320	3	2	81	1	0	0	0	0	1	0	0	0	16095	942	33	4	416	4	TMEM18	2	677320	Missense_Mutation	SNP	G	TCGA-AB-2887-03A-01W-0732-08		677320	242522053	2	871											
DNMT3A	1788	genome.wustl.edu	37	2	25463529	25463529	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr2:25463529G>A	ENST00000264709.3	-	18	2490	c.2153C>T	c.(2152-2154)cCt>cTt	p.P718L	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.P718L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.P529L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.P495L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	718	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGCGAGCAGGGTTGACGAT	0.582			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											149	123	132					2																	25463529		2203	4300	6503	25317033	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2153C>T	2.37:g.25463529G>A	ENSP00000264709:p.Pro718Leu	28	15.15	5		1	98.51	132	25317033	1	93.33	14	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.P718L	ENST00000264709.3	37	c.2153	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449621	0.84101	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96232	-3.95;-3.95;-3.95;-3.95	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.97745	0.9260	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97978	1.0347	10	0.87932	D	0	-3.4991	12.4181	0.55504	0.0816:0.0:0.9184:0.0	.	718;529	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	L	529;718;718;495	ENSP00000370122:P529L;ENSP00000324375:P718L;ENSP00000264709:P718L;ENSP00000384237:P495L	ENSP00000264709:P718L	P	-	2	0	DNMT3A	25317033	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.924000	0.87555	2.613000	0.88420	0.555000	0.69702	CCT	-	HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.582	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25317033	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25463529	G	A	25463529	3	1	81	1	0	0	0	0	1	0	0	0	4676	1000	35	2	609	2	DNMT3A	2	25463529	Missense_Mutation	SNP	G	TCGA-AB-2887-03A-01W-0732-08	24786209	25463529	217735844	3	872											
PRKD3	23683	genome.wustl.edu	37	2	37480342	37480342	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr2:37480342T>C	ENST00000379066.1	-	19	3413	c.2651A>G	c.(2650-2652)gAt>gGt	p.D884G	PRKD3_ENST00000234179.2_Missense_Mutation_p.D884G			O94806	KPCD3_HUMAN	protein kinase D3	884					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCCATATCATCTGGATTAGG	0.363																																					Melanoma(80;621 1355 8613 11814 51767)	dbGAP											0			2											172	163	166					2																	37480342		2203	4300	6503	37333846	SO:0001583	missense	0			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"Pleckstrin homology (PH) domain containing"	9408	protein-coding gene	gene with protein product		607077	"protein kinase C, nu"	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2651A>G	2.37:g.37480342T>C	ENSP00000368356:p.Asp884Gly	122	7.46	10		42	51.72	45	37333846	76	50.65	78	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	HMMSmart_SM00219,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_PH domain-like,superfamily_Cysteine-rich domain	p.D884G	ENST00000379066.1	37	c.2651	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	T	16.70	3.196603	0.58126	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.67171	-0.25;-0.25	5.83	5.83	0.93111	.	0.155859	0.43416	D	0.000565	T	0.56877	0.2015	L	0.29908	0.895	0.53005	D	0.999968	B	0.25105	0.118	B	0.18871	0.023	T	0.55811	-0.8082	10	0.59425	D	0.04	-18.7095	16.1946	0.82018	0.0:0.0:0.0:1.0	.	884	O94806	KPCD3_HUMAN	G	884	ENSP00000368356:D884G;ENSP00000234179:D884G	ENSP00000234179:D884G	D	-	2	0	PRKD3	37333846	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	6.186000	0.72026	2.228000	0.72767	0.528000	0.53228	GAT	-	NULL		0.363	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	protein_coding	OTTHUMT00000218570.3	T	NM_005813		37333846	-1	no_errors	NM_005813.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	37480342	T	C	37480342	3	2	81	1	0	0	0	0	1	0	0	0	12520	1435	50	3	25	3	PRKD3	2	37480342	Missense_Mutation	SNP	T	TCGA-AB-2887-03A-01W-0732-08	12016813	37480342	205719031	4	873											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	56	14.49	10		35	60.67	54	208821358	22	47.62	20	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	81	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2887-03A-01W-0732-08	171632771	209113113	34086260	5	874											
TMEM108	66000	genome.wustl.edu	37	3	133114756	133114756	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr3:133114756A>T	ENST00000321871.6	+	6	1864	c.1654A>T	c.(1654-1656)Act>Tct	p.T552S	TMEM108_ENST00000508711.1_Missense_Mutation_p.T82S|TMEM108_ENST00000393130.3_Missense_Mutation_p.T552S	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	552						integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTATAGAGACACTGGGATGGT	0.517																																						dbGAP											0			3											123	115	118					3																	133114756		2203	4300	6503	134597446	SO:0001583	missense	0			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"cancer/testis antigen 124"					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1654A>T	3.37:g.133114756A>T	ENSP00000324651:p.Thr552Ser	48	5.88	3					134597446	19	47.22	17	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	PatternScan_TONB_DEPENDENT_REC_1	p.T552S	ENST00000321871.6	37	c.1654	CCDS33858.1	3	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549747	0.45383	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000508711	T;T	0.38240	1.15;1.15	5.72	3.28	0.37604	.	0.145945	0.39544	N	0.001325	T	0.23926	0.0579	L	0.31926	0.97	0.80722	D	1	B;B	0.24317	0.0;0.101	B;B	0.17433	0.0;0.018	T	0.04693	-1.0933	10	0.15499	T	0.54	-10.9644	10.3079	0.43691	0.8649:0.0:0.1351:0.0	.	82;552	B3KT64;Q6UXF1	.;TM108_HUMAN	S	552;552;82	ENSP00000324651:T552S;ENSP00000376838:T552S	ENSP00000324651:T552S	T	+	1	0	TMEM108	134597446	1.000000	0.71417	0.969000	0.41365	0.943000	0.58893	5.512000	0.67030	0.419000	0.25927	0.459000	0.35465	ACT	-	NULL		0.517	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM108	protein_coding	OTTHUMT00000356907.2	A	NM_023943		134597446	1	no_errors	NM_023943.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	133114756	A	T	133114756	3	4	81	1	0	0	0	0	1	0	0	0	16021	159	6	5	1668	5	TMEM108	3	133114756	Missense_Mutation	SNP	A	TCGA-AB-2887-03A-01W-0732-08		133114756	64907674	6	875											
LAMA2	3908	genome.wustl.edu	37	6	129704366	129704366	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr6:129704366C>T	ENST00000421865.2	+	35	5108	c.5059C>T	c.(5059-5061)Cgg>Tgg	p.R1687W		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1687	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.R1687W(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAGCTTGCCCGGGATGCAGA	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)	6											70	74	72					6																	129704366		2203	4300	6503	129746059	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"Laminins"	6482	protein-coding gene	gene with protein product	"merosin", "congenital muscular dystrophy"	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5059C>T	6.37:g.129704366C>T	ENSP00000400365:p.Arg1687Trp	55	5.17	3					129746059	30	40.38	21	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	HMMPfam_Laminin_B,HMMSmart_LamG,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Gal_bind_like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF56399,superfamily_SSF57196	p.R1687W	ENST00000421865.2	37	c.5059	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	18.31	3.596309	0.66332	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.10860	2.83	5.55	4.66	0.58398	Laminin I (1);	0.673372	0.15157	N	0.277407	T	0.03959	0.0111	N	0.08118	0	0.28872	N	0.894874	P;P	0.52170	0.951;0.951	P;P	0.46585	0.498;0.521	T	0.28235	-1.0050	10	0.66056	D	0.02	.	15.973	0.80034	0.1359:0.8641:0.0:0.0	.	1687;1687	A6NF00;P24043	.;LAMA2_HUMAN	W	1687	ENSP00000400365:R1687W	ENSP00000346769:R1687W	R	+	1	2	LAMA2	129746059	0.918000	0.31147	0.438000	0.26821	0.949000	0.60115	4.004000	0.57068	1.435000	0.47434	0.563000	0.77884	CGG	-	superfamily_ConA_like_lec_gl,HMMPfam_Laminin_I		0.458	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	C			129746059	1	no_errors	NM_000426.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	129704366	C	T	129704366	3	4	81	1	0	0	0	0	1	0	0	0	8606	643	23	1	5197	1	LAMA2	6	129704366	Missense_Mutation	SNP	C	TCGA-AB-2887-03A-01W-0732-08		129704366	41410701	7	876											
EZH2	2146	genome.wustl.edu	37	7	148506443	148506443	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr7:148506443C>T	ENST00000460911.1	-	18	2142	c.2054G>A	c.(2053-2055)cGt>cAt	p.R685H	EZH2_ENST00000320356.2_Missense_Mutation_p.R690H|EZH2_ENST00000541220.1_Missense_Mutation_p.R634H|EZH2_ENST00000350995.2_Missense_Mutation_p.R646H|EZH2_ENST00000478654.1_Missense_Mutation_p.R634H|EZH2_ENST00000483967.1_Missense_Mutation_p.R676H|EZH2_ENST00000476773.1_Missense_Mutation_p.R634H			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	685	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.		R -> H (in a patient with chronic myelomonocytic leukemia). {ECO:0000269|PubMed:21828135}.		cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.R690H(7)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTTGCAAAACGAATTTTGTT	0.383			Mis		DLBCL																																	dbGAP		Rec?	yes		7	7q35-q36	2146	enhancer of zeste homolog 2		L	7	Substitution - Missense(7)	haematopoietic_and_lymphoid_tissue(7)	7											121	120	120					7																	148506443		2203	4300	6503	148137376	SO:0001583	missense	0				CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"Chromatin-modifying enzymes / K-methyltransferases"	3527	protein-coding gene	gene with protein product		601573	"enhancer of zeste (Drosophila) homolog 2", "enhancer of zeste homolog 2 (Drosophila)"			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.2054G>A	7.37:g.148506443C>T	ENSP00000419711:p.Arg685His	84	10.64	10		1	96.55	28	148137376	3	93.33	42	B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	HMMSmart_SANT,HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199	p.R690H	ENST00000460911.1	37	c.2069	CCDS56516.1	7	.	.	.	.	.	.	.	.	.	.	c	34	5.327377	0.95708	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	D;T;T;T;D;D;T	0.94417	-3.42;-1.36;-1.36;-1.36;-3.42;-3.42;-1.36	5.13	5.13	0.70059	SET domain (3);	0.000000	0.85682	D	0.000000	D	0.97427	0.9158	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.998;0.996;0.997;0.938	D	0.98173	1.0453	10	0.87932	D	0	.	18.5938	0.91223	0.0:1.0:0.0:0.0	.	676;634;685;646;690	Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;EZH2_HUMAN;.;.	H	634;690;685;646;634;634;676	ENSP00000417062:R634H;ENSP00000320147:R690H;ENSP00000419711:R685H;ENSP00000223193:R646H;ENSP00000443219:R634H;ENSP00000419050:R634H;ENSP00000419856:R676H	ENSP00000320147:R690H	R	-	2	0	EZH2	148137376	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.574000	0.82434	2.375000	0.81037	0.655000	0.94253	CGT	-	HMMPfam_SET,HMMSmart_SET,superfamily_SSF82199		0.383	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	EZH2	protein_coding	OTTHUMT00000352744.1	C	NM_004456		148137376	-1	no_errors	NM_004456.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	148506443	C	T	148506443	3	4	81	1	0	0	0	0	1	0	0	0	5334	536	19	1	198	1	EZH2	7	148506443	Missense_Mutation	SNP	C	TCGA-AB-2887-03A-01W-0732-08		148506443	10632220	8	877											
DYNC2H1	79659	genome.wustl.edu	37	11	103039545	103039545	+	Silent	SNP	T	T	C			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr11:103039545T>C	ENST00000375735.2	+	32	4968	c.4824T>C	c.(4822-4824)gaT>gaC	p.D1608D	DYNC2H1_ENST00000398093.3_Silent_p.D1608D|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1608	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATAATATTGATGTGGTAAAGC	0.338																																						dbGAP											0			11											83	80	81					11																	103039545		1824	4086	5910	102544755	SO:0001819	synonymous_variant	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"Cytoplasmic dyneins"	2962	protein-coding gene	gene with protein product		603297	"dynein, cytoplasmic, heavy polypeptide 2"	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.4824T>C	11.37:g.103039545T>C		60	10.45	7		0	100	1	102544755	41	45.33	34	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.D1608	ENST00000375735.2	37	c.4824	CCDS53701.1	11																																																																																			-	NULL		0.338	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	protein_coding	OTTHUMT00000387196.1	T	XM_370652		102544755	1	no_errors	NM_001080463.1	genbank	human	provisional	54_36p	silent	SNP	0.999	C	C	103039545	T	C	103039545	2	2	81	1	0	0	0	0	0	0	0	1	4846	1461	51	3		3	DYNC2H1	11	103039545	Silent	SNP	T	TCGA-AB-2887-03A-01W-0732-08		103039545	31966971	9	878											
ACAT1	38	genome.wustl.edu	37	11	108009744	108009744	+	Silent	SNP	T	T	G			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr11:108009744T>G	ENST00000265838.4	+	6	646	c.555T>G	c.(553-555)acT>acG	p.T185T		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	185					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ACGGGCTAACTGATGTCTACA	0.343																																						dbGAP											0			11											155	149	151					11																	108009744		2201	4298	6499	107514954	SO:0001819	synonymous_variant	0			D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"acetoacetyl Coenzyme A thiolase"	607809	"acetyl-Coenzyme A acetyltransferase 1"	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.555T>G	11.37:g.108009744T>G		98	6.6	7		62	40.38	42	107514954	53	49.04	51	B2R6H1|G3XAB4|Q96FG8	Silent	SNP	HMMPfam_Thiolase_N,HMMPfam_Thiolase_C,PatternScan_THIOLASE_1,PatternScan_THIOLASE_3,PatternScan_THIOLASE_2,superfamily_Thiolase-like	p.T185	ENST00000265838.4	37	c.555	CCDS8339.1	11	.	.	.	.	.	.	.	.	.	.	T	0.870	-0.732463	0.03135	.	.	ENSG00000075239	ENST00000528370	.	.	.	5.74	-6.73	0.01749	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.2706	4.9656	0.14089	0.242:0.47:0.09:0.198	.	.	.	.	G	121	.	.	X	+	1	0	ACAT1	107514954	0.000000	0.05858	0.825000	0.32803	0.125000	0.20455	-2.009000	0.01455	-1.168000	0.02776	-0.982000	0.02568	TGA	-	HMMPfam_Thiolase_N,superfamily_Thiolase-like		0.343	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAT1	protein_coding	OTTHUMT00000389474.1	T	NM_000019		107514954	1	no_errors	NM_000019.3	genbank	human	reviewed	54_36p	silent	SNP	0.739	G	G	108009744	T	G	108009744	2	3	81	1	0	0	0	0	0	0	0	1	121	1567	55	5		5	ACAT1	11	108009744	Silent	SNP	T	TCGA-AB-2887-03A-01W-0732-08	4970199	108009744	26996772	10	879											
FGD6	55785	genome.wustl.edu	37	12	95603880	95603880	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr12:95603880C>T	ENST00000343958.4	-	2	1403	c.1180G>A	c.(1180-1182)Gca>Aca	p.A394T	FGD6_ENST00000546711.1_Missense_Mutation_p.A394T|FGD6_ENST00000549499.1_Missense_Mutation_p.A394T|FGD6_ENST00000550368.1_5'Flank	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	394					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AAGTCCTGTGCATCACTGTTG	0.353																																						dbGAP											0			12											165	164	164					12																	95603880		2203	4300	6503	94128011	SO:0001583	missense	0			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"Zinc fingers, FYVE domain containing", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1180G>A	12.37:g.95603880C>T	ENSP00000344446:p.Ala394Thr	94	13.64	15		4	50	4	94128011	85	42.57	63	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_PH,HMMSmart_SM00233,superfamily_FYVE/PHD zinc finger,PatternScan_C_TYPE_LECTIN_1,superfamily_PH domain-like	p.A394T	ENST00000343958.4	37	c.1180	CCDS31878.1	12	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.855398	0.00558	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.67171	-0.15;-0.25;-0.17	5.71	-5.09	0.02920	.	1.300580	0.05060	N	0.479673	T	0.38321	0.1036	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.20767	0.031	T	0.17806	-1.0357	10	0.15066	T	0.55	0.2809	5.2984	0.15764	0.0958:0.307:0.0762:0.521	.	394	Q6ZV73	FGD6_HUMAN	T	394	ENSP00000344446:A394T;ENSP00000450342:A394T;ENSP00000449005:A394T	ENSP00000344446:A394T	A	-	1	0	FGD6	94128011	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.758000	0.04766	-1.226000	0.02574	-2.658000	0.00147	GCA	-	NULL		0.353	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	protein_coding	OTTHUMT00000407600.1	C	NM_018351		94128011	-1	no_errors	NM_018351.3	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	95603880	C	T	95603880	3	4	81	1	0	0	0	0	1	0	0	0	5837	710	25	2	3192	2	FGD6	12	95603880	Missense_Mutation	SNP	C	TCGA-AB-2887-03A-01W-0732-08		95603880	38248015	11	880											
BDKRB2	624	genome.wustl.edu	37	14	96707223	96707223	+	Silent	SNP	G	G	A			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr14:96707223G>A	ENST00000306005.3	+	3	754	c.558G>A	c.(556-558)ctG>ctA	p.L186L	BDKRB2_ENST00000542454.2_Silent_p.L159L|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.L159L|BDKRB2_ENST00000554311.1_Silent_p.L186L	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	186					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	GGTGTACGCTGCTCCTGAGCT	0.607																																						dbGAP											0			14											106	94	98					14																	96707223		2203	4300	6503	95776976	SO:0001819	synonymous_variant	0			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"GPCR / Class A : Bradykinin receptors"	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.558G>A	14.37:g.96707223G>A		21	4.55	1					95776976	14	62.5	25		Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.L186	ENST00000306005.3	37	c.558	CCDS9942.1	14																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.607	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	protein_coding	OTTHUMT00000413294.1	G			95776976	1	no_errors	NM_000623.3	genbank	human	reviewed	54_36p	silent	SNP	0.046	A	A	96707223	G	A	96707223	2	1	81	1	0	0	0	0	0	0	0	1	1393	1306	46	2		2	BDKRB2	14	96707223	Silent	SNP	G	TCGA-AB-2887-03A-01W-0732-08		96707223	10642317	12	881											
ABCC3	8714	genome.wustl.edu	37	17	48760974	48760974	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr17:48760974C>T	ENST00000285238.8	+	27	3891	c.3811C>T	c.(3811-3813)Ccc>Tcc	p.P1271S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1271					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CTGCCAGGCGCCCTGGGTGGT	0.652																																						dbGAP											0			17											44	45	45					17																	48760974		2203	4300	6503	46115973	SO:0001583	missense	0			Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"ATP binding cassette transporters / subfamily C"	54	protein-coding gene	gene with protein product	"canalicular multispecific organic anion transporter 2"	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3811C>T	17.37:g.48760974C>T	ENSP00000285238:p.Pro1271Ser	95	8.65	9					46115973	17	56.41	22	B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.P1271S	ENST00000285238.8	37	c.3811	CCDS32681.1	17	.	.	.	.	.	.	.	.	.	.	c	15.64	2.894232	0.52121	.	.	ENSG00000108846	ENST00000285238	D	0.82803	-1.65	5.59	5.59	0.84812	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.88962	0.6580	L	0.46947	1.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88011	0.2762	10	0.45353	T	0.12	-33.1285	19.584	0.95484	0.0:1.0:0.0:0.0	.	1271	O15438	MRP3_HUMAN	S	1271	ENSP00000285238:P1271S	ENSP00000285238:P1271S	P	+	1	0	ABCC3	46115973	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	4.781000	0.62389	2.635000	0.89317	0.556000	0.70494	CCC	-	superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain		0.652	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC3	protein_coding	OTTHUMT00000368083.2	C	NM_020038		46115973	1	no_errors	NM_003786.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	48760974	C	T	48760974	3	4	81	1	0	0	0	0	1	0	0	0	54	739	26	2	4001	2	ABCC3	17	48760974	Missense_Mutation	SNP	C	TCGA-AB-2887-03A-01W-0732-08		48760974	32434236	13	882											
CYP4F2	8529	genome.wustl.edu	37	19	16000324	16000324	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chr19:16000324C>T	ENST00000221700.6	-	7	922	c.827G>A	c.(826-828)cGc>cAc	p.R276H	CYP4F2_ENST00000011989.7_Missense_Mutation_p.R127H	NM_001082.3	NP_001073.3			cytochrome P450, family 4, subfamily F, polypeptide 2									p.R276H(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGGAGAGTGCGGCGCCGCTC	0.572																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)	19											95	89	91					19																	16000324		2203	4300	6503	15861324	SO:0001583	missense	0			U02388	CCDS12336.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186115	ENSG00000186115		"Cytochrome P450s"	2645	protein-coding gene	gene with protein product		604426	"cytochrome P450, subfamily IVF, polypeptide 2"			8424651, 8026587	Standard	NM_001082		Approved		uc002nbs.1	P78329	OTTHUMG00000185995	ENST00000221700.6:c.827G>A	19.37:g.16000324C>T	ENSP00000221700:p.Arg276His	71	11.25	9		1	0	0	15861324	40	55.06	49		Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.R276H	ENST00000221700.6	37	c.827	CCDS12336.1	19	.	.	.	.	.	.	.	.	.	.	c	8.551	0.875616	0.17395	.	.	ENSG00000186115	ENST00000221700;ENST00000392846;ENST00000011989	T;T	0.69561	-0.41;-0.41	2.72	0.497	0.16902	.	0.937778	0.08750	U	0.899261	T	0.61299	0.2336	M	0.76727	2.345	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.13407	0.009;0.009	T	0.50931	-0.8769	10	0.33141	T	0.24	.	4.5696	0.12203	0.0:0.5483:0.0:0.4517	.	127;276	B4DV75;P78329	.;CP4F2_HUMAN	H	276;127;127	ENSP00000221700:R276H;ENSP00000011989:R127H	ENSP00000011989:R127H	R	-	2	0	CYP4F2	15861324	0.000000	0.05858	0.105000	0.21289	0.872000	0.50106	-1.211000	0.02997	0.447000	0.26695	0.305000	0.20034	CGC	-	HMMPfam_p450,superfamily_Cytochrome_P450		0.572	CYP4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F2	protein_coding	OTTHUMT00000460372.3	C	NM_001082		15861324	-1	no_errors	NM_001082.3	genbank	human	reviewed	54_36p	missense	SNP	0.027	T	T	16000324	C	T	16000324	3	4	81	1	0	0	0	0	1	0	0	0	4188	768	27	1	763	1	CYP4F2	19	16000324	Missense_Mutation	SNP	C	TCGA-AB-2887-03A-01W-0732-08		16000324	43128659	14	883											
BRWD3	254065	genome.wustl.edu	37	X	79988964	79988964	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2887-03A-01W-0732-08	TCGA-AB-2887-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63b061fa-a51b-4160-8cf6-cb6d17bd5c5a	191233e7-e123-4253-922e-983ab11690b8	g.chrX:79988964T>C	ENST00000373275.4	-	12	1334	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	373					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCTGTCTCCATTGTTACAGAA	0.308																																						dbGAP											0			X											98	88	91					X																	79988964		2203	4296	6499	79875620	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"WD repeat domain containing"	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1118A>G	X.37:g.79988964T>C	ENSP00000362372:p.Asn373Ser	151	8.98	15		0	96.88	31	79875620	47	44.05	37	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.N373S	ENST00000373275.4	37	c.1118	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	4.888	0.165008	0.09339	.	.	ENSG00000165288	ENST00000373275	T	0.58797	0.31	4.29	4.29	0.51040	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.109275	0.64402	D	0.000013	T	0.39572	0.1083	N	0.13140	0.3	0.42183	D	0.991698	B	0.18013	0.025	B	0.24701	0.055	T	0.20940	-1.0260	9	.	.	.	-11.9019	12.8543	0.57876	0.0:0.0:0.0:1.0	.	373	Q6RI45	BRWD3_HUMAN	S	373	ENSP00000362372:N373S	.	N	-	2	0	BRWD3	79875620	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.373000	0.59537	1.602000	0.50124	0.339000	0.21740	AAT	-	HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40		0.308	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	protein_coding	OTTHUMT00000057344.1	T	NM_153252		79875620	-1	no_errors	NM_153252.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	79988964	T	C	79988964	3	2	81	1	0	0	0	0	1	0	0	0	1526	1493	52	3	4410	3	BRWD3	23	79988964	Missense_Mutation	SNP	T	TCGA-AB-2887-03A-01W-0732-08		79988964	75281596	15	884											
KIT	3815	genome.wustl.edu	37	4	55589771	55589772	+	In_Frame_Ins	INS	-	-	CTTCTT			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	-	-	-	CTTCTT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr4:55589771_55589772insCTTCTT	ENST00000288135.5	+	8	1350_1351	c.1253_1254insCTTCTT	c.(1252-1257)tacgac>taCTTCTTcgac	p.418_419YD>YFFD		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	418	Ig-like C2-type 5.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y418_D419>G(4)|p.Y418_D419insFF(3)|p.T417_D419>I(2)|p.T417_D419>RG(2)|p.T417_D419>Y(2)|p.T417_R420>R(1)|p.T417_V422>SRIL(1)|p.T417_D419>F(1)|p.T417_D419>G(1)|p.T417_D419>KT(1)|p.Y418_D419insFL(1)|p.T417_D419>L(1)|p.T417_D419>N(1)|p.T417_D419>KS(1)|p.Y418_R420>V(1)|p.T417_D419>RA(1)|p.T417_D419>S(1)|p.T417_D419>V(1)|p.T417_R420>SVIVG(1)|p.Y418_D419del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATCCTGACTTACGACAGGCTCG	0.475		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	28	Complex - deletion inframe(22)|Insertion - In frame(4)|Deletion - In frame(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(28)	4																																								55284529	SO:0001652	inframe_insertion	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	Exception_encountered	4.37:g.55589771_55589772insCTTCTT	ENSP00000288135:p.Tyr418_Asp419insPhePhe								55284528				B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.419in_frame_insFF	ENST00000288135.5	37	c.1253_1254	CCDS3496.1	4																																																																																			-	NULL		0.475	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	-			55284529	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.002:0.002	CTTCTT	CTTCTT	55589772	-	CTTCTT	55589771	7	5	82	1	0	1	1	0	0	0	0	0	8329	391	14	0	1283	0	KIT	4	55589771	In_Frame_Ins	INS	-	TCGA-AB-2888-03A-01W-0732-08		55589771	135564505	1	885											
HLA-B	3106	genome.wustl.edu	37	6	31324917	31324917	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr6:31324917G>C	ENST00000412585.2	-	1	47	c.19C>G	c.(19-21)Cga>Gga	p.R7G		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	7					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGGACGGTTCGGGGCGCCATG	0.682									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													dbGAP											0			6											14	12	13					6																	31324917		2100	4078	6178	31432896	SO:0001583	missense	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"Histocompatibility complex", "Immunoglobulin superfamily / C1-set domain containing"	4932	protein-coding gene	gene with protein product		142830	"ankylosing spondylitis"	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.19C>G	6.37:g.31324917G>C	ENSP00000399168:p.Arg7Gly	60	0	0		1199	43.5	923	31432896	48	23.44	15	Q29764	Missense_Mutation	SNP	HMMPfam_MHC_I,PatternScan_IG_MHC,HMMPfam_C1-set,HMMSmart_SM00407,HMMPfam_MHC_I_C,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin	p.R7G	ENST00000412585.2	37	c.19	CCDS34394.1	6	.	.	.	.	.	.	.	.	.	.	N	11.58	1.681701	0.29872	.	.	ENSG00000234745	ENST00000412585	T	0.00633	6.08	3.34	0.474	0.16768	.	5.945680	0.01256	N	0.009039	T	0.00412	0.0013	M	0.66506	2.035	0.09310	N	1	P	0.38992	0.653	B	0.37989	0.262	T	0.44159	-0.9346	10	0.72032	D	0.01	.	3.23	0.06745	0.2623:0.227:0.5107:0.0	.	7	P01889	1B07_HUMAN	G	7	ENSP00000399168:R7G	ENSP00000399168:R7G	R	-	1	2	HLA-B	31432896	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.153000	0.10144	0.244000	0.21351	0.442000	0.29010	CGA	-	NULL		0.682	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	protein_coding	OTTHUMT00000076280.4	G	NM_005514		31432896	-1	no_errors	NM_005514.6	genbank	human	reviewed	54_36p	missense	SNP	0.000	C	C	31324917	G	C	31324917	3	2	82	1	0	0	0	0	1	0	0	0	7196	1124	39	4	1097	4	HLA-B	6	31324917	Missense_Mutation	SNP	G	TCGA-AB-2888-03A-01W-0732-08		31324917	139790150	2	886											
ARHGAP18	93663	genome.wustl.edu	37	6	129950550	129950553	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	TCTT	TCTT	TCTT	-	TCTT	TCTT	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr6:129950550_129950553delTCTT	ENST00000368149.2	-	5	819_822	c.731_734delAAGA	c.(730-735)aaagagfs	p.KE244fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTTGGAGCTCTCTTTCTGATTGAG	0.436																																						dbGAP											0			6																																								129992246	SO:0001589	frameshift_variant	0			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"Rho GTPase activating proteins"	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.731_734delAAGA	6.37:g.129950550_129950553delTCTT	ENSP00000357131:p.Lys244fs								129992243					Frame_Shift_Del	DEL	HMMPfam_RhoGAP,HMMSmart_SM00324,superfamily_GTPase activation domain GAP	p.K244fs	ENST00000368149.2	37	c.734_731	CCDS34535.1	6																																																																																			-	NULL		0.436	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	protein_coding	OTTHUMT00000042185.2	TCTT	NM_033515		129992246	-1	no_errors	NM_033515.2	genbank	human	validated	54_36p	frame_shift_del	DEL	0.979:0.998:1.000:1.000	-	-	129950553	TCTT	-	129950550	7	5	82	1	0	1	0	1	0	0	0	0	868	1551	54	0	1301	0	ARHGAP18	6	129950550	Frame_Shift_Del	DEL	TCTT	TCGA-AB-2888-03A-01W-0732-08	98625633	129950550	41164517	3	887											
ASB15	142685	genome.wustl.edu	37	7	123269106	123269106	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr7:123269106C>T	ENST00000451558.1	+	12	1579	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	ASB15_ENST00000451215.1_Missense_Mutation_p.A353V|ASB15_ENST00000540573.1_Missense_Mutation_p.A353V|ASB15_ENST00000434204.1_Missense_Mutation_p.A353V|ASB15_ENST00000275699.3_Missense_Mutation_p.A353V			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	353					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGGAAGACTGCGCTGTATTTT	0.443																																						dbGAP											0			7											168	152	158					7																	123269106		2203	4300	6503	123056342	SO:0001583	missense	0			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"Ankyrin repeat domain containing"	19767	protein-coding gene	gene with protein product			"ankyrin repeat and SOCS box-containing 15"			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.1058C>T	7.37:g.123269106C>T	ENSP00000397655:p.Ala353Val	111	0.89	1					123056342	79	31.62	37	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	HMMPfam_SOCS_box,HMMSmart_SM00253,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.A353V	ENST00000451558.1	37	c.1058	CCDS34742.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.210454	0.95069	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	6.17	6.17	0.99709	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	M	0.63208	1.945	0.58432	D	0.999998	D	0.71674	0.998	D	0.64321	0.924	T	0.79060	-0.1958	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	353	Q8WXK1	ASB15_HUMAN	V	353;353;353;353;142;353	ENSP00000397655:A353V;ENSP00000390963:A353V;ENSP00000416433:A353V;ENSP00000438643:A353V;ENSP00000275699:A353V	ENSP00000275699:A353V	A	+	2	0	ASB15	123056342	0.998000	0.40836	0.969000	0.41365	0.964000	0.63967	5.766000	0.68843	2.941000	0.99782	0.655000	0.94253	GCG	-	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat		0.443	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	protein_coding	OTTHUMT00000347493.1	C			123056342	1	no_errors	NM_080928.3	genbank	human	validated	54_36p	missense	SNP	0.997	T	T	123269106	C	T	123269106	3	4	82	1	0	0	0	0	1	0	0	0	1019	768	27	1	1084	1	ASB15	7	123269106	Missense_Mutation	SNP	C	TCGA-AB-2888-03A-01W-0732-08		123269106	35869557	4	888											
CPNE3	8895	genome.wustl.edu	37	8	87557034	87557034	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr8:87557034A>G	ENST00000521271.1	+	9	862	c.700A>G	c.(700-702)Aca>Gca	p.T234A	CPNE3_ENST00000198765.4_Missense_Mutation_p.T234A	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	234					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GACCACCATGACAAAACTGAA	0.313																																						dbGAP											0			8											149	137	141					8																	87557034		2203	4300	6503	87626150	SO:0001583	missense	0			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.700A>G	8.37:g.87557034A>G	ENSP00000430934:p.Thr234Ala	117	0.85	1		42	38.24	26	87626150	66	27.47	25	A8KA47|Q8IYA1	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMSmart_VWA,superfamily_C2_CaLB,HMMPfam_Copine,superfamily_SSF53300	p.T234A	ENST00000521271.1	37	c.700	CCDS6243.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.562|8.562	0.877901|0.877901	0.17395|0.17395	.|.	.|.	ENSG00000085719|ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072|ENST00000517391	T;T;T|.	0.42900|.	1.15;1.15;0.96|.	5.8|5.8	5.8|5.8	0.92144|0.92144	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);|.	0.232564|.	0.43747|.	D|.	0.000535|.	T|.	0.21103|.	0.0508|.	N|N	0.01535|0.01535	-0.81|-0.81	0.41594|0.41594	D|D	0.988817|0.988817	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|.	0.25984|.	-1.0116|.	10|.	0.15952|.	T|.	0.53|.	-15.5799|-15.5799	9.6792|9.6792	0.40059|0.40059	0.7406:0.0:0.0:0.2594|0.7406:0.0:0.0:0.2594	.|.	234|.	O75131|.	CPNE3_HUMAN|.	A|W	234|122	ENSP00000198765:T234A;ENSP00000430934:T234A;ENSP00000427791:T234A|.	ENSP00000198765:T234A|.	T|X	+|+	1|3	0|0	CPNE3|CPNE3	87626150|87626150	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.039000|3.039000	0.49791|0.49791	2.210000|2.210000	0.71456|0.71456	0.528000|0.528000	0.53228|0.53228	ACA|TGA	-	HMMSmart_C2,superfamily_C2_CaLB		0.313	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE3	protein_coding	OTTHUMT00000374994.1	A			87626150	1	no_errors	NM_003909.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	87557034	A	G	87557034	3	3	82	1	0	0	0	0	1	0	0	0	3813	275	10	3	726	3	CPNE3	8	87557034	Missense_Mutation	SNP	A	TCGA-AB-2888-03A-01W-0732-08		87557034	58806988	5	889											
BRMS1	25855	genome.wustl.edu	37	11	66108791	66108791	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr11:66108791G>A	ENST00000359957.3	-	4	404	c.244C>T	c.(244-246)Cga>Tga	p.R82*	BRMS1_ENST00000425825.2_Nonsense_Mutation_p.R82*|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	82					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)	p.R82*(1)		large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						TGACTCAGTCGTTCCCTGAAC	0.602																																					GBM(7;55 307 2662 20856 28942)	dbGAP											1	Substitution - Nonsense(1)	liver(1)	11											38	42	41					11																	66108791		2200	4295	6495	65865367	SO:0001587	stop_gained	0			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.244C>T	11.37:g.66108791G>A	ENSP00000353042:p.Arg82*	54	0	0		31	16.22	6	65865367	34	22.73	10	Q6IAI2	Nonsense_Mutation	SNP	HMMPfam_Sds3	p.R82*	ENST00000359957.3	37	c.244	CCDS8135.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.854658|5.854658	0.97030|0.97030	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000425825;ENST00000359957;ENST00000530756|ENST00000524699	.|.	.|.	.|.	4.17|4.17	4.17|4.17	0.49024|0.49024	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.63721	.|0.2535	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69895	.|-0.5021	.|3	0.02654|.	T|.	1|.	-18.1714|-18.1714	14.3494|14.3494	0.66691|0.66691	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|M	82|44	.|.	ENSP00000353042:R82X|.	R|T	-|-	1|2	2|0	BRMS1|BRMS1	65865367|65865367	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.704000|2.704000	0.47118|0.47118	2.332000|2.332000	0.79248|0.79248	0.563000|0.563000	0.77884|0.77884	CGA|ACG	-	HMMPfam_Sds3		0.602	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	protein_coding	OTTHUMT00000392958.2	G	NM_015399		65865367	-1	no_errors	NM_001024957.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	66108791	G	A	66108791	4	1	82	1	0	0	0	0	0	1	0	0	1516	1153	40	1	668	1	BRMS1	11	66108791	Nonsense_Mutation	SNP	G	TCGA-AB-2888-03A-01W-0732-08		66108791	68897725	6	890											
DDX23	9416	genome.wustl.edu	37	12	49239405	49239405	+	Missense_Mutation	SNP	C	C	T	rs139040339		TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr12:49239405C>T	ENST00000308025.3	-	2	240	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	54	Arg-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GCTGCCTCCTCGACGTCTATC	0.498																																						dbGAP											0			12											150	143	146					12																	49239405		2203	4300	6503	47525672	SO:0001583	missense	0			AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"DEAD-boxes"	17347	protein-coding gene	gene with protein product		612172	"PRP28 homolog, yeast"			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.161G>A	12.37:g.49239405C>T	ENSP00000310723:p.Arg54Gln	74	1.32	1		52	40.23	35	47525672	39	29.09	16	B2R600|B4DH15|O43188	Missense_Mutation	SNP	PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R54Q	ENST00000308025.3	37	c.161	CCDS8770.1	12	.	.	.	.	.	.	.	.	.	.	C	19.67	3.871835	0.72180	.	.	ENSG00000174243	ENST00000308025;ENST00000552512;ENST00000551468	T	0.21543	2.0	6.0	6.0	0.97389	.	0.000000	0.64402	D	0.000006	T	0.21590	0.0520	N	0.11756	0.17	0.48632	D	0.999684	P	0.44241	0.829	P	0.49528	0.614	T	0.02705	-1.1121	10	0.28530	T	0.3	0.0223	19.3312	0.94288	0.0:1.0:0.0:0.0	.	54	Q9BUQ8	DDX23_HUMAN	Q	54	ENSP00000310723:R54Q	ENSP00000310723:R54Q	R	-	2	0	DDX23	47525672	0.993000	0.37304	0.957000	0.39632	0.860000	0.49131	4.810000	0.62598	2.868000	0.98415	0.556000	0.70494	CGA	-	NULL		0.498	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX23	protein_coding	OTTHUMT00000408897.2	C	NM_004818		47525672	-1	no_errors	NM_004818.2	genbank	human	reviewed	54_36p	missense	SNP	0.853	T	T	49239405	C	T	49239405	3	4	82	1	0	0	0	0	1	0	0	0	4350	884	31	1	2365	1	DDX23	12	49239405	Missense_Mutation	SNP	C	TCGA-AB-2888-03A-01W-0732-08		49239405	84612490	7	891											
GPR183	1880	genome.wustl.edu	37	13	99947482	99947482	+	Silent	SNP	A	A	G			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chr13:99947482A>G	ENST00000376414.4	-	2	1001	c.918T>C	c.(916-918)ttT>ttC	p.F306F	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	306					G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						AGAAGTAGATAAAAGGGTCCA	0.418																																						dbGAP											0			13											103	95	97					13																	99947482		2203	4300	6503	98745483	SO:0001819	synonymous_variant	0			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.918T>C	13.37:g.99947482A>G		124	0.79	1		584	47.63	532	98745483	78	29.73	33	B2R8N5|Q53F99|Q5JUH7	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.F306	ENST00000376414.4	37	c.918	CCDS9492.1	13																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.418	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	protein_coding	OTTHUMT00000045582.2	A	NM_004951		98745483	-1	no_errors	NM_004951.4	genbank	human	reviewed	54_36p	silent	SNP	0.972	G	G	99947482	A	G	99947482	2	3	82	1	0	0	0	0	0	0	0	1	6678	359	13	3		3	GPR183	13	99947482	Silent	SNP	A	TCGA-AB-2888-03A-01W-0732-08		99947482	15222396	8	892											
FAM47B	170062	genome.wustl.edu	37	X	34962508	34962508	+	Silent	SNP	C	C	T			TCGA-AB-2888-03A-01W-0732-08	TCGA-AB-2888-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c0c5cc35-b82e-4843-abd2-59739c85097d	22b0fe6d-f07e-4e6c-b9c6-1a8d4c928685	g.chrX:34962508C>T	ENST00000329357.5	+	1	1596	c.1560C>T	c.(1558-1560)gtC>gtT	p.V520V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	520										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGGATGAGGTCGAATTCTTAC	0.502																																						dbGAP											0			X											102	92	96					X																	34962508		2202	4300	6502	34872429	SO:0001819	synonymous_variant	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1560C>T	X.37:g.34962508C>T		66	2.94	2					34872429	38	53.09	43	Q5JQN5|Q6PIG3	Silent	SNP	NULL	p.V520	ENST00000329357.5	37	c.1560	CCDS14236.1	X																																																																																			-	NULL		0.502	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	protein_coding	OTTHUMT00000056211.1	C	NM_152631		34872429	1	no_errors	NM_152631.1	genbank	human	predicted	54_36p	silent	SNP	0.000	T	T	34962508	C	T	34962508	2	4	82	1	0	0	0	0	0	0	0	1	5570	871	31	1		1	FAM47B	23	34962508	Silent	SNP	C	TCGA-AB-2888-03A-01W-0732-08		34962508	120308052	9	893											
ANK2	287	genome.wustl.edu	37	4	114275765	114275765	+	Silent	SNP	C	C	T			TCGA-AB-2889-03A-01W-0732-08	TCGA-AB-2889-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	776282ec-8391-4382-8ba7-793058092bbe	cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac	g.chr4:114275765C>T	ENST00000357077.4	+	38	6044	c.5991C>T	c.(5989-5991)ttC>ttT	p.F1997F	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.F1964F|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1997					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGAAGGCTTTCCAGTCAGGTC	0.448																																						dbGAP											0			4											93	100	98					4																	114275765		2203	4300	6503	114495214	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"Ankyrin repeat domain containing"	493	protein-coding gene	gene with protein product		106410	"long (electrocardiographic) QT syndrome 4"	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5991C>T	4.37:g.114275765C>T		214	3.17	7					114495214	65	49.22	63	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	HMMPfam_Death,HMMSmart_DEATH,HMMPfam_ZU5,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,superfamily_DEATH_like,PatternScan_ALDEHYDE_DEHYDR_GLU	p.F1997	ENST00000357077.4	37	c.5991	CCDS3702.1	4																																																																																			-	NULL		0.448	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	C	NM_001148		114495214	1	no_errors	NM_001148.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	114275765	C	T	114275765	2	4	83	1	0	0	0	0	0	0	0	1	621	854	30	2		2	ANK2	4	114275765	Silent	SNP	C	TCGA-AB-2889-03A-01W-0732-08		114275765	76878511	1	894											
ATRNL1	26033	genome.wustl.edu	37	10	117486792	117486792	+	Missense_Mutation	SNP	G	G	A	rs370291248		TCGA-AB-2889-03A-01W-0732-08	TCGA-AB-2889-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	776282ec-8391-4382-8ba7-793058092bbe	cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac	g.chr10:117486792G>A	ENST00000355044.3	+	27	3956	c.3830G>A	c.(3829-3831)cGt>cAt	p.R1277H	ATRNL1_ENST00000423111.2_Missense_Mutation_p.R328H|ATRNL1_ENST00000303745.7_Missense_Mutation_p.R70H	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1277					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ATGGCCAGCCGTCCCTTTGCT	0.453																																						dbGAP											0			10											55	52	53					10																	117486792		2203	4300	6503	117476782	SO:0001583	missense	0			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3830G>A	10.37:g.117486792G>A	ENSP00000347152:p.Arg1277His	96	4.95	5					117476782	56	38.04	35	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_SM00423,HMMSmart_SM00181,HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_C-type lectin-like,superfamily_Plexin repeat,superfamily_EGF/Laminin	p.R1277H	ENST00000355044.3	37	c.3830	CCDS7592.1	10	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523150	0.85600	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T;T	0.53206	0.63;0.63;0.63	5.77	5.77	0.91146	.	0.050562	0.85682	D	0.000000	T	0.72374	0.3452	M	0.79926	2.475	0.49915	D	0.999833	D;D	0.71674	0.991;0.998	P;D	0.72075	0.683;0.976	T	0.75001	-0.3471	10	0.87932	D	0	-19.9412	19.9795	0.97321	0.0:0.0:1.0:0.0	.	328;1277	B4DH41;Q5VV63	.;ATRN1_HUMAN	H	1277;328;70	ENSP00000347152:R1277H;ENSP00000409624:R328H;ENSP00000307660:R70H	ENSP00000307660:R70H	R	+	2	0	ATRNL1	117476782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.720000	0.91442	2.720000	0.93068	0.650000	0.86243	CGT	-	NULL		0.453	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRNL1	protein_coding	OTTHUMT00000050507.3	G	XM_049349		117476782	1	no_errors	NM_207303.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	117486792	G	A	117486792	3	1	83	1	0	0	0	0	1	0	0	0	1207	1145	40	1	3936	1	ATRNL1	10	117486792	Missense_Mutation	SNP	G	TCGA-AB-2889-03A-01W-0732-08		117486792	18047955	2	895											
APBA2	321	genome.wustl.edu	37	15	29398977	29398977	+	Silent	SNP	C	C	A			TCGA-AB-2889-03A-01W-0732-08	TCGA-AB-2889-11A-01W-0761-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	776282ec-8391-4382-8ba7-793058092bbe	cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac	g.chr15:29398977C>A	ENST00000558402.1	+	13	2471	c.1872C>A	c.(1870-1872)acC>acA	p.T624T	APBA2_ENST00000411764.1_Silent_p.T612T|APBA2_ENST00000558330.1_Silent_p.T612T|APBA2_ENST00000558259.1_Silent_p.T624T|APBA2_ENST00000561069.1_Silent_p.T624T			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	624	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TCAATGGCACCAGCCTGGTGG	0.642																																						dbGAP											0			15											60	56	57					15																	29398977		2203	4300	6503	27186269	SO:0001819	synonymous_variant	0			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"X11-like", "amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1872C>A	15.37:g.29398977C>A		27	6.9	2		1	0	0	27186269	13	40.91	9	E9PGI4|O60571|Q5XKC0	Silent	SNP	HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_PID,HMMSmart_PTB,superfamily_SSF50729	p.T624	ENST00000558402.1	37	c.1872	CCDS10022.1	15																																																																																			-	HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ		0.642	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	protein_coding	OTTHUMT00000251362.3	C	NM_005503		27186269	1	no_errors	NM_005503.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	29398977	C	A	29398977	2	1	83	1	0	0	0	0	0	0	0	1	757	581	21	4		4	APBA2	15	29398977	Silent	SNP	C	TCGA-AB-2889-03A-01W-0732-08		29398977	73132415	3	896											
SALL1	6299	genome.wustl.edu	37	16	51174459	51174459	+	Silent	SNP	C	C	T			TCGA-AB-2889-03A-01W-0732-08	TCGA-AB-2889-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	776282ec-8391-4382-8ba7-793058092bbe	cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac	g.chr16:51174459C>T	ENST00000251020.4	-	2	1707	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Silent_p.P461P|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	558					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTGGGGGCAACGGCAGGCCGA	0.602																																					GBM(103;1352 1446 1855 4775 8890)	dbGAP											0			16											43	47	46					16																	51174459		2198	4300	6498	49731960	SO:0001819	synonymous_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"Zinc fingers, C2H2-type"	10524	protein-coding gene	gene with protein product		602218	"sal (Drosophila)-like 1", "sal-like 1 (Drosophila)"	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1674G>A	16.37:g.51174459C>T		215	2.71	6					49731960	40	48.05	37	Q99881|Q9NSC3|Q9P1R0	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.P558	ENST00000251020.4	37	c.1674	CCDS10747.1	16																																																																																			-	NULL		0.602	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	protein_coding	OTTHUMT00000256883.2	C	NM_002968		49731960	-1	no_errors	NM_002968.1	genbank	human	reviewed	54_36p	silent	SNP	0.897	T	T	51174459	C	T	51174459	2	4	83	1	0	0	0	0	0	0	0	1	13810	523	19	1		1	SALL1	16	51174459	Silent	SNP	C	TCGA-AB-2889-03A-01W-0732-08		51174459	39180294	4	897											
MXRA5	25878	genome.wustl.edu	37	X	3241845	3241845	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2889-03A-01W-0732-08	TCGA-AB-2889-11A-01W-0761-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	776282ec-8391-4382-8ba7-793058092bbe	cfbe10b5-e46e-4d4a-adb7-a4b4d7099fac	g.chrX:3241845A>C	ENST00000217939.6	-	5	2035	c.1881T>G	c.(1879-1881)caT>caG	p.H627Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	627	Ig-like C2-type 2.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACATGTATACATGTGATGTGT	0.458																																						dbGAP											0			X											118	102	107					X																	3241845		2203	4300	6503	3251845	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7539	protein-coding gene	gene with protein product	"adlican"					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1881T>G	X.37:g.3241845A>C	ENSP00000217939:p.His627Gln	125	3.85	5					3251845	1	97.59	81	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin,superfamily_L domain-like	p.H627Q	ENST00000217939.6	37	c.1881	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	A	7.766	0.706471	0.15239	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.01527	4.8	3.63	-7.27	0.01461	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.598399	0.13722	U	0.367293	T	0.01320	0.0043	L	0.31294	0.92	0.09310	N	1	B	0.33413	0.411	B	0.37015	0.239	T	0.27706	-1.0066	10	0.11182	T	0.66	.	9.4446	0.38690	0.3439:0.0:0.5422:0.1139	.	627	Q9NR99	MXRA5_HUMAN	Q	627	ENSP00000217939:H627Q	ENSP00000217939:H627Q	H	-	3	2	MXRA5	3251845	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.672000	0.05244	-2.849000	0.00332	-1.502000	0.00957	CAT	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	A	NM_015419		3251845	-1	no_errors	NM_015419.3	genbank	human	validated	54_36p	missense	SNP	0.006	C	C	3241845	A	C	3241845	3	2	83	1	0	0	0	0	1	0	0	0	10003	214	8	5	6617	5	MXRA5	23	3241845	Missense_Mutation	SNP	A	TCGA-AB-2889-03A-01W-0732-08		3241845	152028715	5	898											
CNOT6L	246175	genome.wustl.edu	37	4	78647521	78647521	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr4:78647521C>T	ENST00000504123.1	-	11	1385	c.1255G>A	c.(1255-1257)Gtt>Att	p.V419I	CNOT6L_ENST00000264903.4_Missense_Mutation_p.V419I			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	419	Nuclease domain.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA destabilization (GO:0061157)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TATTCCACAACACCTGGTAGA	0.413																																						dbGAP											0			4											102	84	90					4																	78647521		1885	4114	5999	78866545	SO:0001583	missense	0			AL133112	CCDS68731.1	4q13.3	2014-06-17				ENSG00000138767			18042	protein-coding gene	gene with protein product							Standard	NM_144571		Approved	DKFZp434K098, Ccr4b	uc003hks.3	Q96LI5		ENST00000504123.1:c.1255G>A	4.37:g.78647521C>T	ENSP00000424896:p.Val419Ile	72	3.95	3		8	27.27	3	78866545	87	30.4	38	Q9UF92	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,superfamily_L domain-like	p.V419I	ENST00000504123.1	37	c.1255		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.220397|5.220397	0.95139|0.95139	.|.	.|.	ENSG00000138767|ENSG00000138767	ENST00000515506|ENST00000504123;ENST00000264903;ENST00000512485;ENST00000505983	.|T;T;T;T	.|0.80653	.|-1.4;-1.4;-1.4;-1.4	5.73|5.73	5.73|5.73	0.89815|0.89815	.|Endonuclease/exonuclease/phosphatase (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90614|0.90614	0.7057|0.7057	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|D;D	.|0.78314	.|0.978;0.991	D|D	0.91118|0.91118	0.4927|0.4927	5|10	.|0.87932	.|D	.|0	-3.2432|-3.2432	19.8841|19.8841	0.96908|0.96908	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|392;419	.|Q96LI5-2;Q96LI5	.|.;CNO6L_HUMAN	Y|I	447|419;419;426;194	.|ENSP00000424896:V419I;ENSP00000264903:V419I;ENSP00000425571:V426I;ENSP00000426320:V194I	.|ENSP00000264903:V419I	C|V	-|-	2|1	0|0	CNOT6L|CNOT6L	78866545|78866545	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.792000|7.792000	0.85828|0.85828	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	TGT|GTT	-	HMMPfam_Exo_endo_phos,superfamily_DNase I-like		0.413	CNOT6L-001	KNOWN	basic|appris_principal	protein_coding	CNOT6L	protein_coding	OTTHUMT00000362515.1	C			78866545	-1	no_errors	NM_144571.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	78647521	C	T	78647521	3	4	84	1	0	0	0	0	1	0	0	0	3623	478	17	2	420	2	CNOT6L	4	78647521	Missense_Mutation	SNP	C	TCGA-AB-2890-03A-01W-0732-08		78647521	112506755	1	899											
EGFLAM	133584	genome.wustl.edu	37	5	38451544	38451544	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr5:38451544G>A	ENST00000354891.3	+	20	3041	c.2695G>A	c.(2695-2697)Gga>Aga	p.G899R	EGFLAM_ENST00000514476.1_Missense_Mutation_p.G34R|EGFLAM_ENST00000336740.6_Missense_Mutation_p.G657R|EGFLAM_ENST00000397210.3_Missense_Mutation_p.G34R|EGFLAM_ENST00000506135.1_Missense_Mutation_p.G34R|EGFLAM_ENST00000397202.2_Missense_Mutation_p.G257R|EGFLAM_ENST00000322350.5_Missense_Mutation_p.G891R	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	899	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCTTCGGGATGGAGCCCTCGT	0.532																																					Colon(62;485 1295 3347 17454)	dbGAP											0			5											161	140	147					5																	38451544		2203	4300	6503	38487301	SO:0001583	missense	0			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"Fibronectin type III domain containing"	26810	protein-coding gene	gene with protein product	"pikachurin", "agrin-like"					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2695G>A	5.37:g.38451544G>A	ENSP00000346964:p.Gly899Arg	89	3.19	3					38487301	76	30.28	33	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	HMMSmart_LamG,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_EGF,HMMSmart_EGF,superfamily_FN_III-like,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2	p.G891R	ENST00000354891.3	37	c.2671	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	29.1	4.979461	0.92982	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	D;D;D;D;T;T;D;T	0.88201	-2.35;-2.35;-2.35;-2.35;-0.94;-0.94;-2.35;-0.94	5.63	5.63	0.86233	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.95214	0.8448	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95064	0.8198	10	0.56958	D	0.05	-2.1229	19.3082	0.94173	0.0:0.0:1.0:0.0	.	657;899;891	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	R	899;891;657;257;657;34;34;34;34	ENSP00000346964:G899R;ENSP00000313084:G891R;ENSP00000337607:G657R;ENSP00000380385:G257R;ENSP00000380393:G34R;ENSP00000425579:G34R;ENSP00000427228:G34R;ENSP00000423228:G34R	ENSP00000313084:G891R	G	+	1	0	EGFLAM	38487301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.431000	0.97494	2.649000	0.89929	0.650000	0.86243	GGA	-	HMMSmart_LamG,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2		0.532	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	protein_coding	OTTHUMT00000367323.1	G	NM_152403		38487301	1	no_errors	NM_152403.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	38451544	G	A	38451544	3	1	84	1	0	0	0	0	1	0	0	0	4966	1349	47	2	2759	2	EGFLAM	5	38451544	Missense_Mutation	SNP	G	TCGA-AB-2890-03A-01W-0732-08		38451544	142463716	2	900											
PTPRD	5789	genome.wustl.edu	37	9	8376658	8376658	+	Silent	SNP	A	A	G			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr9:8376658A>G	ENST00000381196.4	-	35	4998	c.4455T>C	c.(4453-4455)ctT>ctC	p.L1485L	PTPRD_ENST00000537002.1_Silent_p.L1075L|PTPRD_ENST00000358503.5_Silent_p.L1463L|PTPRD_ENST00000397606.3_Silent_p.L1078L|PTPRD_ENST00000486161.1_Silent_p.L1078L|PTPRD_ENST00000540109.1_Silent_p.L1485L|PTPRD_ENST00000397617.3_Silent_p.L1078L|PTPRD_ENST00000360074.4_Silent_p.L1472L|PTPRD_ENST00000355233.5_Silent_p.L1079L|PTPRD_ENST00000397611.3_Silent_p.L1075L|PTPRD_ENST00000356435.5_Silent_p.L1485L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1485	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCACAGTATCAAGCAGCGTTA	0.438										TSP Lung(15;0.13)																												dbGAP											0			9											198	155	170					9																	8376658		2203	4300	6503	8366658	SO:0001819	synonymous_variant	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4455T>C	9.37:g.8376658A>G		104	4.5	5					8366658	112	47.66	102	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Silent	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II	p.L1485	ENST00000381196.4	37	c.4455	CCDS43786.1	9																																																																																			-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II		0.438	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	protein_coding	OTTHUMT00000055395.3	A			8366658	-1	no_errors	NM_002839.1	genbank	human	reviewed	54_36p	silent	SNP	0.168	G	G	8376658	A	G	8376658	2	3	84	1	0	0	0	0	0	0	0	1	12799	117	5	3		3	PTPRD	9	8376658	Silent	SNP	A	TCGA-AB-2890-03A-01W-0732-08		8376658	132836773	3	901											
LRIT1	26103	genome.wustl.edu	37	10	85991750	85991750	+	Missense_Mutation	SNP	C	C	T	rs375523621		TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr10:85991750C>T	ENST00000372105.3	-	4	1826	c.1805G>A	c.(1804-1806)cGt>cAt	p.R602H		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	602						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CACACTGGAACGAGCTGAGAG	0.567																																						dbGAP											0			10						C	HIS/ARG	0,4406		0,0,2203	79	62	68		1805	2.5	0	10		68	2,8598	2.2+/-6.3	0,2,4298	no	missense	LRIT1	NM_015613.2	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	602/624	85991750	2,13004	2203	4300	6503	85981730	SO:0001583	missense	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	23404	protein-coding gene	gene with protein product	"fibronectin type III, immunoglobulin and leucine rich repeat domains 9"		"leucine rich repeat containing 21"	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1805G>A	10.37:g.85991750C>T	ENSP00000361177:p.Arg602His	22	0	0					85981730	32	25.58	11	Q0QD41|Q9Y4N7	Missense_Mutation	SNP	HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_ig,superfamily_SSF48726,superfamily_SSF52058	p.R602H	ENST00000372105.3	37	c.1805	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409639	0.42715	0.0	2.33E-4	ENSG00000148602	ENST00000372105	T	0.54675	0.56	5.37	2.45	0.29901	.	0.054759	0.85682	D	0.000000	T	0.68183	0.2973	M	0.76574	2.34	0.21553	N	0.999649	D	0.89917	1.0	D	0.79784	0.993	T	0.59883	-0.7370	10	0.87932	D	0	.	9.971	0.41754	0.0:0.668:0.2597:0.0723	.	602	Q9P2V4	LRIT1_HUMAN	H	602	ENSP00000361177:R602H	ENSP00000361177:R602H	R	-	2	0	LRIT1	85981730	0.408000	0.25360	0.000000	0.03702	0.204000	0.24138	2.951000	0.49089	0.374000	0.24650	0.591000	0.81541	CGT	-	NULL		0.567	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	protein_coding	OTTHUMT00000049109.1	C	NM_015613		85981730	-1	no_errors	NM_015613.2	genbank	human	validated	54_36p	missense	SNP	0.670	T	T	85991750	C	T	85991750	3	4	84	1	0	0	0	0	1	0	0	0	8947	536	19	1	70	1	LRIT1	10	85991750	Missense_Mutation	SNP	C	TCGA-AB-2890-03A-01W-0732-08		85991750	49542997	4	902											
CYP4F12	66002	genome.wustl.edu	37	19	15794469	15794469	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr19:15794469C>T	ENST00000550308.1	+	7	1194	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R272W	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	272					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	CGCTGTCATCCGGGAGCGGCG	0.537																																						dbGAP											0			19											91	91	91					19																	15794469		2198	4298	6496	15655469	SO:0001583	missense	0			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"Cytochrome P450s"	18857	protein-coding gene	gene with protein product		611485	"cytochrome P450, subfamily IVF, polypeptide 12"			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.814C>T	19.37:g.15794469C>T	ENSP00000448998:p.Arg272Trp	87	5.38	5					15655469	46	28.12	18	E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.R272W	ENST00000550308.1	37	c.814	CCDS42517.1	19	.	.	.	.	.	.	.	.	.	.	.	15.35	2.808696	0.50421	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.69435	-0.4;-0.4	2.47	2.47	0.30058	.	0.278314	0.28877	U	0.013843	T	0.73024	0.3534	M	0.79693	2.465	0.29124	N	0.880043	D	0.60160	0.987	P	0.51453	0.67	T	0.71712	-0.4510	10	0.87932	D	0	.	11.0495	0.47878	0.0:1.0:0.0:0.0	.	272	Q9HCS2	CP4FC_HUMAN	W	272	ENSP00000448998:R272W;ENSP00000321821:R272W	ENSP00000321821:R272W	R	+	1	2	CYP4F12	15655469	1.000000	0.71417	0.996000	0.52242	0.352000	0.29268	1.897000	0.39799	1.686000	0.51046	0.491000	0.48974	CGG	-	HMMPfam_p450,superfamily_Cytochrome P450		0.537	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F12	protein_coding	OTTHUMT00000378938.9	C			15655469	1	no_errors	NM_023944.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	15794469	C	T	15794469	3	4	84	1	0	0	0	0	1	0	0	0	4187	643	23	1	836	1	CYP4F12	19	15794469	Missense_Mutation	SNP	C	TCGA-AB-2890-03A-01W-0732-08		15794469	43334514	5	903											
ADNP	23394	genome.wustl.edu	37	20	49509105	49509105	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr20:49509105T>G	ENST00000396029.3	-	5	2713	c.2146A>C	c.(2146-2148)Aag>Cag	p.K716Q	ADNP_ENST00000396032.3_Missense_Mutation_p.K716Q|ADNP_ENST00000349014.3_Missense_Mutation_p.K716Q|ADNP_ENST00000371602.4_Missense_Mutation_p.K716Q	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	716					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAAGTGCGCTTCACAGGTGCC	0.468																																						dbGAP											0			20											101	92	95					20																	49509105		2203	4300	6503	48942512	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"Homeoboxes / ZF class"	15766	protein-coding gene	gene with protein product	"ADNP homeobox 1"	611386	"activity-dependent neuroprotector"			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.2146A>C	20.37:g.49509105T>G	ENSP00000379346:p.Lys716Gln	45	6.25	3		47	44.71	38	48942512	71	37.17	42	E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_HOX,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain_like,HMMSmart_ZnF_C2H2,PatternScan_HOMEOBOX_1	p.K716Q	ENST00000396029.3	37	c.2146	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	T	14.75	2.628789	0.46944	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	6.07	6.07	0.98685	.	0.049173	0.85682	D	0.000000	T	0.50854	0.1640	L	0.43152	1.355	0.48762	D	0.999709	P	0.43094	0.799	B	0.36845	0.234	T	0.56390	-0.7987	9	0.59425	D	0.04	-18.7975	16.6407	0.85098	0.0:0.0:0.0:1.0	.	716	Q9H2P0	ADNP_HUMAN	Q	716	.	ENSP00000342905:K716Q	K	-	1	0	ADNP	48942512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.669000	0.61575	2.326000	0.78906	0.533000	0.62120	AAG	-	NULL		0.468	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	protein_coding	OTTHUMT00000079705.2	T	NM_181442		48942512	-1	no_errors	NM_015339.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	49509105	T	G	49509105	3	3	84	1	0	0	0	0	1	0	0	0	323	1792	62	5	1166	5	ADNP	20	49509105	Missense_Mutation	SNP	T	TCGA-AB-2890-03A-01W-0732-08		49509105	13516415	6	904											
RUNX1	861	genome.wustl.edu	37	21	36231783	36231783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chr21:36231783G>A	ENST00000344691.4	-	3	2097	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R201*|RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R174*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R201*|RUNX1_ENST00000358356.5_Nonsense_Mutation_p.R174*|RUNX1_ENST00000486278.2_Nonsense_Mutation_p.R177*|RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R189*	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.R201*(5)|p.R201G(1)		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						CGAGGTTCTCGGGGCCCATCC	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	6	Substitution - Nonsense(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(5)|large_intestine(1)	21	GRCh37	CM992141	RUNX1	M							274	240	251					21																	36231783		2203	4300	6503	35153653	SO:0001587	stop_gained	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.520C>T	21.37:g.36231783G>A	ENSP00000340690:p.Arg174*	84	1.18	1		412	37.14	244	35153653	57	24	18	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R201*	ENST00000344691.4	37	c.601	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.081424	0.98643	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7194	12.147	0.54028	0.0:0.0:0.8085:0.1914	.	.	.	.	X	174;201;201;189;174;177;174;189;177	.	ENSP00000300305:R201X	R	-	1	2	RUNX1	35153653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.798000	0.47884	1.088000	0.41272	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	G			35153653	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	36231783	G	A	36231783	4	1	84	1	0	0	0	0	0	1	0	0	13746	1124	39	1	890	1	RUNX1	21	36231783	Nonsense_Mutation	SNP	G	TCGA-AB-2890-03A-01W-0732-08		36231783	11898112	7	905											
TCEAL3	85012	genome.wustl.edu	37	X	102864442	102864442	+	Silent	SNP	A	A	G			TCGA-AB-2890-03A-01W-0732-08	TCGA-AB-2890-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	63fe7f58-796e-4cf8-bc6e-957e1e0f091b	762a8778-551f-476e-b434-faf19a65f6de	g.chrX:102864442A>G	ENST00000372628.1	+	3	808	c.450A>G	c.(448-450)caA>caG	p.Q150Q	TCEAL3_ENST00000243286.3_Silent_p.Q150Q|TCEAL3_ENST00000372627.5_Silent_p.Q150Q|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q150Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CAAGGGCTCAAGAGGAGCTAA	0.512																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											293	254	267					X																	102864442		2203	4300	6503	102751098	SO:0001819	synonymous_variant	0			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.450A>G	X.37:g.102864442A>G		128	3.03	4		4	0	0	102751098	189	16.67	38	D3DXA4	Silent	SNP	HMMPfam_TFA	p.Q150	ENST00000372628.1	37	c.450	CCDS14511.1	X																																																																																			-	HMMPfam_TFA		0.512	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	protein_coding	OTTHUMT00000057737.1	A	NM_032926		102751098	1	no_errors	NM_001006933.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	G	G	102864442	A	G	102864442	2	3	84	1	0	0	0	0	0	0	0	1	15669	69	3	3		3	TCEAL3	23	102864442	Silent	SNP	A	TCGA-AB-2890-03A-01W-0732-08		102864442	52406118	8	906											
EPHA10	284656	genome.wustl.edu	37	1	38186502	38186502	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr1:38186502T>C	ENST00000373048.4	-	12	2160	c.2161A>G	c.(2161-2163)Att>Gtt	p.I721V	EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.I216V|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.I721V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	721	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCGGTGACAATCATCAAGGTG	0.592																																						dbGAP											0			1											72	80	78					1																	38186502		2040	4180	6220	37959089	SO:0001583	missense	0			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2161A>G	1.37:g.38186502T>C	ENSP00000362139:p.Ile721Val	164	1.79	3					37959089	61	41.35	43	A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2	p.I721V	ENST00000373048.4	37	c.2161	CCDS41305.1	1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.221922	0.58560	.	.	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.83992	-1.79;-1.79;-1.79	4.57	4.57	0.56435	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33813	N	0.004534	D	0.82595	0.5071	L	0.39633	1.23	0.80722	D	1	P	0.48294	0.908	P	0.51079	0.658	D	0.84880	0.0830	10	0.87932	D	0	.	13.4352	0.61079	0.0:0.0:0.0:1.0	.	721	Q5JZY3	EPHAA_HUMAN	V	216;721;721	ENSP00000330379:I216V;ENSP00000397746:I721V;ENSP00000362139:I721V	ENSP00000330379:I216V	I	-	1	0	EPHA10	37959089	1.000000	0.71417	0.985000	0.45067	0.798000	0.45092	7.948000	0.87774	1.832000	0.53329	0.482000	0.46254	ATT	-	HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)		0.592	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	EPHA10	protein_coding	OTTHUMT00000012497.2	T	NM_173641		37959089	-1	no_errors	NM_001099439.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	38186502	T	C	38186502	3	2	85	1	0	0	0	0	1	0	0	0	5166	1435	50	3	889	3	EPHA10	1	38186502	Missense_Mutation	SNP	T	TCGA-AB-2891-03A-01W-0733-08		38186502	211064119	1	907											
DNMT3A	1788	genome.wustl.edu	37	2	25463307	25463307	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr2:25463307C>T	ENST00000264709.3	-	19	2523	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R506Q|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R540Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R729Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	729	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAGAAGAGCCGGCCAGTGCC	0.612			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											55	56	56					2																	25463307		2203	4300	6503	25316811	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2186G>A	2.37:g.25463307C>T	ENSP00000264709:p.Arg729Gln	77	2.53	2		19	44.12	15	25316811	34	48.48	32	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R729Q	ENST00000264709.3	37	c.2186	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.316268	0.95655	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.87067	0.6085	L	0.33668	1.02	0.80722	D	1	D;D	0.89917	0.985;1.0	P;D	0.85130	0.473;0.997	D	0.87440	0.2394	10	0.51188	T	0.08	-10.1334	17.6755	0.88229	0.0:1.0:0.0:0.0	.	729;540	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Q	540;729;729;506	ENSP00000370122:R540Q;ENSP00000324375:R729Q;ENSP00000264709:R729Q;ENSP00000384237:R506Q	ENSP00000264709:R729Q	R	-	2	0	DNMT3A	25316811	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.540000	0.85666	0.561000	0.74099	CGG	-	HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25316811	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25463307	C	T	25463307	3	4	85	1	0	0	0	0	1	0	0	0	4676	652	23	1	572	1	DNMT3A	2	25463307	Missense_Mutation	SNP	C	TCGA-AB-2891-03A-01W-0733-08		25463307	217736066	2	908											
DNMT3A	1788	genome.wustl.edu	37	2	25467022	25467022	+	Splice_Site	SNP	A	A	G			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr2:25467022A>G	ENST00000264709.3	-	15	2189		c.e15+1		DNMT3A_ENST00000402667.1_Splice_Site|DNMT3A_ENST00000474887.1_Splice_Site|DNMT3A_ENST00000380746.4_Splice_Site|DNMT3A_ENST00000321117.5_Splice_Site	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha						C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAGCACTCACAAATTCCTG	0.647			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											31	36	35					2																	25467022		2203	4300	6503	25320526	SO:0001630	splice_region_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1851+1T>C	2.37:g.25467022A>G		55	5.17	3		0	100	7	25320526	44	34.78	24	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	SNP	-	e14+2	ENST00000264709.3	37	c.1851+2	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205852	0.79127	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4285	0.61039	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNMT3A	25320526	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.320000	0.96346	1.907000	0.55213	0.533000	0.62120	.	-	-		0.647	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	A	NM_022552	Intron	25320526	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G	G	25467022	A	G	25467022	5	3	85	1	0	0	0	0	0	0	1	0	4676	173	6	3	921	3	DNMT3A	2	25467022	Splice_Site	SNP	A	TCGA-AB-2891-03A-01W-0733-08	3715	25467022	217732351	3	909											
BSN	8927	genome.wustl.edu	37	3	49701907	49701907	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr3:49701907A>G	ENST00000296452.4	+	9	11774	c.11660A>G	c.(11659-11661)cAg>cGg	p.Q3887R		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3887					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCGCCGGCCAGCCAGGTGCC	0.622																																						dbGAP											0			3											52	62	59					3																	49701907		2203	4300	6503	49676911	SO:0001583	missense	0			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"zinc finger protein 231", "neuronal double zinc finger protein"	604020	"bassoon (presynaptic cytomatrix protein)"	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11660A>G	3.37:g.49701907A>G	ENSP00000296452:p.Gln3887Arg	52	3.7	2					49676911	43	30.16	19	O43161|Q7LGH3	Missense_Mutation	SNP	HMMPfam_zf-piccolo,superfamily_FYVE_PHD_ZnF	p.Q3887R	ENST00000296452.4	37	c.11660	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	A	14.32	2.500042	0.44455	.	.	ENSG00000164061	ENST00000296452	T	0.23754	1.89	4.88	4.88	0.63580	.	0.142319	0.47455	D	0.000228	T	0.43787	0.1263	L	0.53249	1.67	0.54753	D	0.999986	D	0.76494	0.999	D	0.63488	0.915	T	0.40534	-0.9558	10	0.72032	D	0.01	-14.0702	14.1734	0.65525	1.0:0.0:0.0:0.0	.	3887	Q9UPA5	BSN_HUMAN	R	3887	ENSP00000296452:Q3887R	ENSP00000296452:Q3887R	Q	+	2	0	BSN	49676911	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	6.968000	0.76086	1.831000	0.53308	0.459000	0.35465	CAG	-	NULL		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	protein_coding	OTTHUMT00000258164.1	A	NM_003458		49676911	1	no_errors	NM_003458.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	49701907	A	G	49701907	3	3	85	1	0	0	0	0	1	0	0	0	1530	188	7	3	11694	3	BSN	3	49701907	Missense_Mutation	SNP	A	TCGA-AB-2891-03A-01W-0733-08		49701907	148320523	4	910											
GABRB1	2560	genome.wustl.edu	37	4	47405449	47405449	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr4:47405449C>T	ENST00000295454.3	+	6	951	c.659C>T	c.(658-660)tCt>tTt	p.S220F	GABRB1_ENST00000538619.1_Missense_Mutation_p.S150F	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	220					cellular response to histamine (GO:0071420)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Gamma Hydroxybutyric Acid(DB01440)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lindane(DB00431)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAGATGGTGTCTAAGAAGGTG	0.413																																						dbGAP											0			4											122	116	118					4																	47405449		2203	4300	6503	47100206	SO:0001583	missense	0				CCDS3474.1	4p12	2012-06-22			ENSG00000163288	ENSG00000163288		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4081	protein-coding gene	gene with protein product	"GABA(A) receptor, beta 1"	137190					Standard	NM_000812		Approved		uc003gxh.3	P18505	OTTHUMG00000044269	ENST00000295454.3:c.659C>T	4.37:g.47405449C>T	ENSP00000295454:p.Ser220Phe	447	3.4	16		0	100	1	47100206	146	31.36	69	B2R6U7|D6REL3|Q16166|Q8TBK3	Missense_Mutation	SNP	HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL	p.S220F	ENST00000295454.3	37	c.659	CCDS3474.1	4	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026743	0.93518	.	.	ENSG00000163288	ENST00000295454;ENST00000538619	T;T	0.77620	-1.11;-1.11	5.43	5.43	0.79202	Neurotransmitter-gated ion-channel ligand-binding (3);	0.075833	0.53938	D	0.000043	D	0.87645	0.6229	M	0.67517	2.055	0.80722	D	1	P;D	0.76494	0.899;0.999	P;D	0.87578	0.673;0.998	D	0.87759	0.2597	10	0.66056	D	0.02	-19.7617	19.428	0.94751	0.0:1.0:0.0:0.0	.	150;220	F5GXV5;P18505	.;GBRB1_HUMAN	F	220;150	ENSP00000295454:S220F;ENSP00000440330:S150F	ENSP00000295454:S220F	S	+	2	0	GABRB1	47100206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.824000	0.97209	0.655000	0.94253	TCT	-	HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD		0.413	GABRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB1	protein_coding	OTTHUMT00000216896.1	C			47100206	1	no_errors	NM_000812.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	47405449	C	T	47405449	3	4	85	1	0	0	0	0	1	0	0	0	6166	913	32	2	681	2	GABRB1	4	47405449	Missense_Mutation	SNP	C	TCGA-AB-2891-03A-01W-0733-08		47405449	143748827	5	911											
CUL9	23113	genome.wustl.edu	37	6	43166449	43166449	+	Missense_Mutation	SNP	G	G	A	rs145736095	byFrequency	TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr6:43166449G>A	ENST00000252050.4	+	12	2990	c.2906G>A	c.(2905-2907)cGt>cAt	p.R969H	CUL9_ENST00000354495.3_Missense_Mutation_p.R859H|CUL9_ENST00000372647.2_Missense_Mutation_p.R969H	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	969					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GACTTGGAGCGTGTGCTGTGC	0.637																																						dbGAP											0			6						G	HIS/ARG	0,4406		0,0,2203	101	105	103		2906	1.1	0.3	6	dbSNP_134	103	3,8597	3.0+/-9.4	0,3,4297	no	missense	CUL9	NM_015089.2	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	969/2518	43166449	3,13003	2203	4300	6503	43274427	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"parkin-like cytoplasmic p53 binding protein", "p53-associated parkin-like cytoplasmic protein"	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2906G>A	6.37:g.43166449G>A	ENSP00000252050:p.Arg969His	361	2.96	11		31	40.38	21	43274427	116	44.5	93	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	HMMPfam_Cullin,HMMPfam_IBR,HMMSmart_SM00647,HMMPfam_APC10,superfamily_Galactose-binding domain-like,superfamily_ARM repeat,PatternScan_CULLIN_1,superfamily_Cullin homology domain,PatternScan_ZF_RING_1,PatternScan_CYTOCHROME_P450,superfamily_"Winged helix" DNA-binding domain,superfamily_RING/U-box	p.R969H	ENST00000252050.4	37	c.2906	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370092	0.24771	0.0	3.49E-4	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74947	-0.88;-0.89;-0.78	5.28	1.12	0.20585	Armadillo-type fold (1);	0.755542	0.12633	N	0.452046	T	0.44371	0.1290	L	0.48642	1.525	0.30173	N	0.801117	B;B;B	0.17268	0.021;0.003;0.003	B;B;B	0.17433	0.018;0.003;0.003	T	0.23332	-1.0191	10	0.49607	T	0.09	-10.9358	4.5832	0.12269	0.2897:0.1599:0.5504:0.0	.	859;969;969	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	H	969;859;969	ENSP00000252050:R969H;ENSP00000346490:R859H;ENSP00000361730:R969H	ENSP00000252050:R969H	R	+	2	0	CUL9	43274427	0.984000	0.35163	0.262000	0.24481	0.496000	0.33645	2.055000	0.41345	0.191000	0.20236	0.555000	0.69702	CGT	-	superfamily_ARM repeat		0.637	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	protein_coding	OTTHUMT00000040582.2	G	NM_015089		43274427	1	no_errors	NM_015089.2	genbank	human	validated	54_36p	missense	SNP	0.201	A	A	43166449	G	A	43166449	3	1	85	1	0	0	0	0	1	0	0	0	4061	1145	40	1	2948	1	CUL9	6	43166449	Missense_Mutation	SNP	G	TCGA-AB-2891-03A-01W-0733-08		43166449	127948618	6	912											
CCL21	6366	genome.wustl.edu	37	9	34710059	34710059	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr9:34710059G>A	ENST00000259607.2	-	1	62	c.5C>T	c.(4-6)gCt>gTt	p.A2V	CCL21_ENST00000378792.1_Missense_Mutation_p.A2V	NM_002989.2	NP_002980.1	O00585	CCL21_HUMAN	chemokine (C-C motif) ligand 21	2					activation of Rho GTPase activity (GO:0032862)|cell chemotaxis (GO:0060326)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|dendritic cell chemotaxis (GO:0002407)|dendritic cell dendrite assembly (GO:0097026)|establishment of T cell polarity (GO:0001768)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|immunological synapse formation (GO:0001771)|inflammatory response (GO:0006954)|mesangial cell-matrix adhesion (GO:0035759)|negative regulation of dendritic cell dendrite assembly (GO:2000548)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell motility (GO:2000147)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of chemotaxis (GO:0050921)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of glycoprotein biosynthetic process (GO:0010560)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myeloid dendritic cell chemotaxis (GO:2000529)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of T cell migration (GO:2000406)|release of sequestered calcium ion into cytosol (GO:0051209)|response to prostaglandin E (GO:0034695)|ruffle organization (GO:0031529)|T cell costimulation (GO:0031295)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	CCR7 chemokine receptor binding (GO:0031732)|chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGTGACTGAGCCATGTCTGT	0.607																																						dbGAP											0			9											52	46	48					9																	34710059		2203	4300	6503	34700059	SO:0001583	missense	0			AB002409	CCDS6571.1	9p13	2014-05-16	2002-08-22	2002-08-23	ENSG00000137077	ENSG00000137077		"Chemokine ligands", "Endogenous ligands"	10620	protein-coding gene	gene with protein product	"beta chemokine exodus-2", "secondary lymphoid tissue chemokine", "Efficient Chemoattractant for Lymphocytes"	602737	"small inducible cytokine subfamily A (Cys-Cys), member 21"	SCYA21		9235955	Standard	NM_002989		Approved	SLC, exodus-2, TCA4, CKb9, 6Ckine, ECL	uc003zvo.4	O00585	OTTHUMG00000019838	ENST00000259607.2:c.5C>T	9.37:g.34710059G>A	ENSP00000259607:p.Ala2Val	293	2.96	9					34700059	231	38.44	148		Missense_Mutation	SNP	HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines	p.A2V	ENST00000259607.2	37	c.5	CCDS6571.1	9	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005856	0.74932	.	.	ENSG00000137077	ENST00000259607;ENST00000378792	T;T	0.03212	4.01;4.07	5.59	4.67	0.58626	.	1.914730	0.02511	N	0.091549	T	0.07638	0.0192	L	0.56769	1.78	0.29859	N	0.827811	B	0.30793	0.295	B	0.31686	0.134	T	0.52071	-0.8624	10	0.15499	T	0.54	-1.7629	12.5625	0.56291	0.0:0.1673:0.8327:0.0	.	2	O00585	CCL21_HUMAN	V	2	ENSP00000259607:A2V;ENSP00000368069:A2V	ENSP00000259607:A2V	A	-	2	0	CCL21	34700059	1.000000	0.71417	0.999000	0.59377	0.625000	0.37756	4.347000	0.59373	1.434000	0.47414	0.655000	0.94253	GCT	-	NULL		0.607	CCL21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL21	protein_coding	OTTHUMT00000052245.1	G	NM_002989		34700059	-1	no_errors	NM_002989.2	genbank	human	reviewed	54_36p	missense	SNP	0.983	A	A	34710059	G	A	34710059	3	1	85	1	0	0	0	0	1	0	0	0	2893	971	34	2	415	2	CCL21	9	34710059	Missense_Mutation	SNP	G	TCGA-AB-2891-03A-01W-0733-08		34710059	106503372	7	913											
FANCC	2176	genome.wustl.edu	37	9	98011446	98011446	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr9:98011446T>C	ENST00000289081.3	-	2	382	c.128A>G	c.(127-129)gAg>gGg	p.E43G	FANCC_ENST00000375305.1_Missense_Mutation_p.E43G	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	43					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				CCTTAGGAACTCCTGGAACTG	0.433			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"Fanconi anemia, complementation group C"		L	0			9											118	110	113					9																	98011446		2203	4300	6503	97051267	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"Fanconi anemia, complementation groups"	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.128A>G	9.37:g.98011446T>C	ENSP00000289081:p.Glu43Gly	263	2.21	6		9	30.77	4	97051267	167	35.63	93	B1ALR8	Missense_Mutation	SNP	HMMPfam_Fanconi_C	p.E43G	ENST00000289081.3	37	c.128	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	T	18.79	3.698449	0.68386	.	.	ENSG00000158169	ENST00000289081;ENST00000375305;ENST00000433829	T;T;T	0.56611	0.45;0.45;0.45	5.13	3.99	0.46301	.	0.288736	0.38663	N	0.001608	T	0.50854	0.1640	M	0.61703	1.905	0.34598	D	0.71625	B;B	0.29162	0.235;0.235	B;B	0.32465	0.146;0.146	T	0.63283	-0.6672	10	0.62326	D	0.03	-7.7197	10.88	0.46933	0.0:0.0735:0.0:0.9265	.	43;43	B1ALR7;Q00597	.;FANCC_HUMAN	G	43	ENSP00000289081:E43G;ENSP00000364454:E43G;ENSP00000406908:E43G	ENSP00000289081:E43G	E	-	2	0	FANCC	97051267	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.065000	0.30592	1.086000	0.41228	0.528000	0.53228	GAG	-	HMMPfam_Fanconi_C		0.433	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	protein_coding	OTTHUMT00000053219.1	T	NM_000136		97051267	-1	no_errors	NM_000136.2	genbank	human	reviewed	54_36p	missense	SNP	0.998	C	C	98011446	T	C	98011446	3	2	85	1	0	0	0	0	1	0	0	0	5664	1551	54	3	1604	3	FANCC	9	98011446	Missense_Mutation	SNP	T	TCGA-AB-2891-03A-01W-0733-08	63301387	98011446	43201985	8	914											
C9orf98	158067	genome.wustl.edu	37	9	135698683	135698683	+	Silent	SNP	C	C	T	rs142140228		TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr9:135698683C>T	ENST00000298545.3	-	9	1319	c.798G>A	c.(796-798)ccG>ccA	p.P266P	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	266					nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCGGGGTGAACGGGGCATTAG	0.557																																						dbGAP											0			9						C		0,4406		0,0,2203	132	146	141		798	-8.9	0.6	9	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	AK8	NM_152572.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		266/480	135698683	1,13005	2203	4300	6503	134688504	SO:0001819	synonymous_variant	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"Adenylate kinases"	26526	protein-coding gene	gene with protein product		615365	"chromosome 9 open reading frame 98"	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.798G>A	9.37:g.135698683C>T		189	3	6					134688504	144	30.48	64	A8K821|Q8N9W9	Silent	SNP	HMMPfam_ADK,superfamily_Microbial and mitochondrial ADK insert "zinc finger" domain,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.P266	ENST00000298545.3	37	c.798	CCDS6954.1	9																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.557	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf98	protein_coding	OTTHUMT00000055413.1	C	NM_152572		134688504	-1	no_errors	NM_152572.2	genbank	human	validated	54_36p	silent	SNP	0.982	T	T	135698683	C	T	135698683	2	4	85	1	0	0	0	0	0	0	0	1	2509	523	19	1		1	C9orf98	9	135698683	Silent	SNP	C	TCGA-AB-2891-03A-01W-0733-08	37687237	135698683	5514748	9	915											
MAP6	4135	genome.wustl.edu	37	11	75316878	75316878	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr11:75316878T>A	ENST00000304771.3	-	3	2041	c.1291A>T	c.(1291-1293)Aac>Tac	p.N431Y	MAP6_ENST00000434603.2_Missense_Mutation_p.N431Y|MAP6_ENST00000526740.1_Missense_Mutation_p.N102Y	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	431					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)		p.N431H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGTTTATTGTTCATCTCTTTG	0.488																																					Esophageal Squamous(181;1115 2007 8647 17065 22697)	dbGAP											1	Substitution - Missense(1)	prostate(1)	11											166	139	148					11																	75316878		2200	4293	6493	74994526	SO:0001583	missense	0			AK123340	CCDS31641.1, CCDS44686.1	11q13.5	2005-10-11			ENSG00000171533	ENSG00000171533			6868	protein-coding gene	gene with protein product		601783				10516426, 12231625	Standard	NM_207577		Approved	KIAA1878, STOP, FLJ41346	uc001owu.3	Q96JE9	OTTHUMG00000165343	ENST00000304771.3:c.1291A>T	11.37:g.75316878T>A	ENSP00000307093:p.Asn431Tyr	382	3.27	13					74994526	106	39.77	70	A7E2A1|Q6P3T0|Q6ZWB8	Missense_Mutation	SNP	HMMPfam_STOP	p.N431Y	ENST00000304771.3	37	c.1291	CCDS31641.1	11	.	.	.	.	.	.	.	.	.	.	T	23.7	4.448456	0.84101	.	.	ENSG00000171533	ENST00000304771;ENST00000526740;ENST00000545476;ENST00000434603	T;T	0.53640	0.61;0.69	5.39	5.39	0.77823	.	0.000000	0.52532	D	0.000073	T	0.59280	0.2182	M	0.64997	1.995	0.49213	D	0.999762	D	0.89917	1.0	D	0.69142	0.962	T	0.58651	-0.7599	10	0.02654	T	1	-21.1195	14.5299	0.67917	0.0:0.0:0.0:1.0	.	431	Q96JE9	MAP6_HUMAN	Y	431;102;102;431	ENSP00000307093:N431Y;ENSP00000415108:N431Y	ENSP00000307093:N431Y	N	-	1	0	MAP6	74994526	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.655000	0.83696	2.162000	0.67917	0.533000	0.62120	AAC	-	HMMPfam_STOP		0.488	MAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP6	protein_coding	OTTHUMT00000383527.1	T	NM_033063		74994526	-1	no_errors	NM_033063.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	75316878	T	A	75316878	3	1	85	1	0	0	0	0	1	0	0	0	9264	1783	62	5	1162	5	MAP6	11	75316878	Missense_Mutation	SNP	T	TCGA-AB-2891-03A-01W-0733-08		75316878	59689638	10	916											
C11orf70	85016	genome.wustl.edu	37	11	101953911	101953911	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr11:101953911G>A	ENST00000434758.2	+	7	813	c.785G>A	c.(784-786)gGt>gAt	p.G262D		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	262										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CACTGTTATGGTGTGGGAGAC	0.323																																						dbGAP											0			11											196	183	187					11																	101953911		2203	4299	6502	101459121	SO:0001583	missense	0			AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.785G>A	11.37:g.101953911G>A	ENSP00000414390:p.Gly262Asp	243	2.39	6					101459121	65	38.68	41	E9PJU1	Missense_Mutation	SNP	NULL	p.G224D	ENST00000434758.2	37	c.671	CCDS8313.2	11	.	.	.	.	.	.	.	.	.	.	G	16.93	3.259090	0.59321	.	.	ENSG00000137691	ENST00000434758;ENST00000423732	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.83473	0.5262	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85522	0.1204	9	0.87932	D	0	-18.6337	17.2222	0.86960	0.0:0.0:1.0:0.0	.	262	Q9BRQ4	CK070_HUMAN	D	262;224	.	ENSP00000392150:G224D	G	+	2	0	C11orf70	101459121	1.000000	0.71417	0.976000	0.42696	0.077000	0.17291	7.714000	0.84703	2.668000	0.90789	0.591000	0.81541	GGT	-	NULL		0.323	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf70	protein_coding	OTTHUMT00000394144.1	G	NM_032930		101459121	1	no_errors	NM_032930.1	genbank	human	predicted	54_36p	missense	SNP	1.000	A	A	101953911	G	A	101953911	3	1	85	1	0	0	0	0	1	0	0	0	1659	1261	44	2	693	2	C11orf70	11	101953911	Missense_Mutation	SNP	G	TCGA-AB-2891-03A-01W-0733-08	26637033	101953911	33052605	11	917											
ETV6	2120	genome.wustl.edu	37	12	12038959	12038959	+	Splice_Site	SNP	A	A	G			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr12:12038959A>G	ENST00000396373.4	+	7	1526	c.1252A>G	c.(1252-1254)Agg>Ggg	p.R418G		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	418					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GCTTTTGTTCAGGTAGCACTT	0.443			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																	dbGAP		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	0			12											111	111	111					12																	12038959		2203	4300	6503	11930226	SO:0001630	splice_region_variant	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1253+1A>G	12.37:g.12038959A>G		255	5.84	16		2	95.24	40	11930226	55	54.47	67	A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_"Winged helix" DNA-binding domain	p.R418G	ENST00000396373.4	37	c.1252	CCDS8643.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.84|12.84	2.059353|2.059353	0.36373|0.36373	.|.	.|.	ENSG00000139083|ENSG00000139083	ENST00000266427|ENST00000396373	.|T	.|0.17691	.|2.26	4.95|4.95	4.95|4.95	0.65309|0.65309	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.47544|0.47544	0.1451|0.1451	M|M	0.87097|0.87097	2.86|2.86	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.56848|0.56848	-0.7911|-0.7911	5|10	.|0.87932	.|D	.|0	.|.	14.5783|14.5783	0.68265|0.68265	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|418	.|P41212	.|ETV6_HUMAN	R|G	30|418	.|ENSP00000379658:R418G	.|ENSP00000379658:R418G	Q|R	+|+	2|1	0|2	ETV6|ETV6	11930226|11930226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.288000|7.288000	0.78691|0.78691	1.992000|1.992000	0.58205|0.58205	0.533000|0.533000	0.62120|0.62120	CAG|AGG	-	HMMPfam_Ets,HMMSmart_SM00413,superfamily_"Winged helix" DNA-binding domain		0.443	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	protein_coding	OTTHUMT00000400130.2	A	NM_001987	Missense_Mutation	11930226	1	no_errors	NM_001987.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	12038959	A	G	12038959	5	3	85	1	0	0	0	0	0	0	1	0	5283	202	7	3	1278	3	ETV6	12	12038959	Splice_Site	SNP	A	TCGA-AB-2891-03A-01W-0733-08		12038959	121812936	12	918											
CLPX	10845	genome.wustl.edu	37	15	65456447	65456447	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr15:65456447T>C	ENST00000300107.3	-	5	781	c.593A>G	c.(592-594)tAt>tGt	p.Y198C		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	198					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TATTCTCTTATAATGATTGTA	0.358																																						dbGAP											0			15											93	97	96					15																	65456447		2202	4299	6501	63243500	SO:0001583	missense	0			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"ATPases / AAA-type"	2088	protein-coding gene	gene with protein product		615611	"ClpX (caseinolytic protease X, E. coli) homolog", "ClpX caseinolytic protease X homolog (E. coli)", "ClpX caseinolytic peptidase X homolog (E. coli)"			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.593A>G	15.37:g.65456447T>C	ENSP00000300107:p.Tyr198Cys	172	3.33	6		23	61.02	36	63243500	77	34.75	41	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	HMMSmart_SM00382,HMMPfam_AAA_2,HMMPfam_ClpB_D2-small,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Y198C	ENST00000300107.3	37	c.593	CCDS10202.1	15	.	.	.	.	.	.	.	.	.	.	T	22.6	4.315905	0.81469	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.27890	1.64	6.06	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.82517	2.595	0.80722	D	1	D;P	0.89917	1.0;0.951	D;P	0.83275	0.996;0.701	T	0.54316	-0.8312	10	0.22706	T	0.39	.	12.5085	0.55995	0.0:0.066:0.0:0.934	.	198;198	Q9H072;O76031	.;CLPX_HUMAN	C	198	ENSP00000300107:Y198C	ENSP00000300107:Y198C	Y	-	2	0	CLPX	63243500	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.323000	0.78572	0.528000	0.53228	TAT	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.358	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPX	protein_coding	OTTHUMT00000256828.2	T	NM_006660		63243500	-1	no_errors	NM_006660.3	genbank	human	provisional	54_36p	missense	SNP	1.000	C	C	65456447	T	C	65456447	3	2	85	1	0	0	0	0	1	0	0	0	3556	1406	49	3	1348	3	CLPX	15	65456447	Missense_Mutation	SNP	T	TCGA-AB-2891-03A-01W-0733-08		65456447	37074945	13	919											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	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	103	103					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	180	4.23	8		220	47.99	203	88432938	78	43.88	61	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	T	90631934	C	T	90631934	3	4	85	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2891-03A-01W-0733-08	25175487	90631934	11899458	14	920											
PDCD2L	84306	genome.wustl.edu	37	19	34900370	34900370	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chr19:34900370A>G	ENST00000246535.3	+	4	688	c.641A>G	c.(640-642)tAt>tGt	p.Y214C	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	214					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGAGGGACTATCAGCAGAGA	0.527																																						dbGAP											0			19											121	111	114					19																	34900370		2203	4300	6503	39592210	SO:0001583	missense	0			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.641A>G	19.37:g.34900370A>G	ENSP00000246535:p.Tyr214Cys	549	3.97	23		2	0	0	39592210	107	44.04	85		Missense_Mutation	SNP	HMMPfam_PDCD2_C	p.Y214C	ENST00000246535.3	37	c.641	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	A	20.2	3.950231	0.73787	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.86	5.86	0.93980	Programmed cell death protein 2, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84800	0.5552	M	0.91612	3.225	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.87234	0.2262	9	0.52906	T	0.07	-20.2242	13.7901	0.63135	1.0:0.0:0.0:0.0	.	214	Q9BRP1	PDD2L_HUMAN	C	214	.	ENSP00000246535:Y214C	Y	+	2	0	PDCD2L	39592210	1.000000	0.71417	0.971000	0.41717	0.961000	0.63080	6.019000	0.70818	2.240000	0.73641	0.533000	0.62120	TAT	-	HMMPfam_PDCD2_C		0.527	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	protein_coding	OTTHUMT00000459251.3	A	NM_032346		39592210	1	no_errors	NM_032346.1	genbank	human	provisional	54_36p	missense	SNP	0.998	G	G	34900370	A	G	34900370	3	3	85	1	0	0	0	0	1	0	0	0	11620	449	16	3	655	3	PDCD2L	19	34900370	Missense_Mutation	SNP	A	TCGA-AB-2891-03A-01W-0733-08		34900370	24228613	15	921											
RIPPLY1	9075	genome.wustl.edu	37	X	106145381	106145381	+	Intron	SNP	G	G	A			TCGA-AB-2891-03A-01W-0733-08	TCGA-AB-2891-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	28b7dbc1-ed11-48c8-965f-460700b005d3	c23c8e94-494f-402f-a61e-c38bb20ec809	g.chrX:106145381G>A	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000411805.1_Intron|RIPPLY1_ENST00000276173.4_Silent_p.L74L	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AAATCCACCAGCTTCCTCATC	0.537																																						dbGAP											0			X											79	76	77					X																	106145381		2026	4161	6187	106032037	SO:0001627	intron_variant	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"Claudins"	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+1647G>A	X.37:g.106145381G>A		124	4.62	6					106032037	40	69.5	98	B2R6B9	Silent	SNP	NULL	p.L74	ENST00000541806.1	37	c.220	CCDS14524.1	X																																																																																			-	NULL		0.537	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPPLY1	protein_coding	OTTHUMT00000057815.1	G			106032037	-1	no_errors	NM_138382.1	genbank	human	provisional	54_36p	silent	SNP	0.000	A	A	106145381	G	A	106145381	1	1	85	0	1	0	0	0	0	0	0	0	13384	962	34	2		2	RIPPLY1	23	106145381	Intron	SNP	G	TCGA-AB-2891-03A-01W-0733-08		106145381	49125179	16	922											
NRAS	4893	genome.wustl.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-AB-2892-03A-01W-0733-08	TCGA-AB-2892-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6ba13e42-8f8e-4b8d-940f-1535edc0d085	b128671d-2d7f-49c2-ba7b-9c2afb59f7a6	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	610	Substitution - Missense(609)|Complex(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	1											180	156	164					1																	115256530		2203	4300	6503	115058053	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	9	25	3		30	25	10	115058053	188	32.86	92	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q61K	ENST00000369535.4	37	c.181	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	G	NM_002524		115058053	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115256530	G	T	115256530	3	4	86	1	0	0	0	0	1	0	0	0	10640	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-AB-2892-03A-01W-0733-08		115256530	133994091	1	923											
EPB41L3	23136	genome.wustl.edu	37	18	5415927	5415928	+	Frame_Shift_Ins	INS	-	-	A	rs186596462|rs201249884		TCGA-AB-2892-03A-01W-0733-08	TCGA-AB-2892-11A-01W-0732-08	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6ba13e42-8f8e-4b8d-940f-1535edc0d085	b128671d-2d7f-49c2-ba7b-9c2afb59f7a6	g.chr18:5415927_5415928insA	ENST00000341928.2	-	13	2296_2297	c.1956_1957insT	c.(1954-1959)tacgctfs	p.A653fs	EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Frame_Shift_Ins_p.A653fs|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	653	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGAGTGAGAGCGTATGGCACTG	0.569																																						dbGAP											0			18																																								5405928	SO:0001589	frameshift_variant	0			AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.1956_1957insT	18.37:g.5415927_5415928insA	ENSP00000343158:p.Ala653fs	0	0	0		0	0	0	5405927	2	0	0	B7Z4I5|F5GX05|O95713|Q9BRP5	Frame_Shift_Ins	INS	HMMPfam_SAB,HMMPfam_4_1_CTD,HMMPfam_FA,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like,superfamily_Ubiquitin-like	p.A652fs	ENST00000341928.2	37	c.1957_1956	CCDS11838.1	18																																																																																			-	NULL		0.569	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L3	protein_coding	OTTHUMT00000254424.1	-	NM_012307		5405928	-1	no_errors	NM_012307.2	genbank	human	provisional	54_36p	frame_shift_ins	INS	1.000:0.993	A	A	5415928	-	A	5415927	7	5	86	1	0	1	1	0	0	0	0	0	5154	768	27	0	1346	0	EPB41L3	18	5415927	Frame_Shift_Ins	INS	-	TCGA-AB-2892-03A-01W-0733-08		5415927	72661321	2	924											
C2orf67	151050	genome.wustl.edu	37	2	210940456	210940456	+	Silent	SNP	C	C	G			TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr2:210940456C>G	ENST00000281772.9	-	6	1838	c.1575G>C	c.(1573-1575)ctG>ctC	p.L525L	KANSL1L_ENST00000457374.1_Silent_p.L525L|KANSL1L_ENST00000418791.1_Silent_p.L525L|KANSL1L_ENST00000452086.1_Silent_p.L525L	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	525						histone acetyltransferase complex (GO:0000123)											TGGAGGAAGACAGCTCATCTA	0.368																																						dbGAP											0			2											112	94	100					2																	210940456		2203	4300	6503	210648701	SO:0001819	synonymous_variant	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"KIAA1267-like"	613833	"chromosome 2 open reading frame 67"	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1575G>C	2.37:g.210940456C>G		217	3.56	8		4	73.33	11	210648701	67	33.66	34	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Silent	SNP	NULL	p.L525	ENST00000281772.9	37	c.1575	CCDS33370.1	2	.	.	.	.	.	.	.	.	.	.	C	6.113	0.389084	0.11581	.	.	ENSG00000144445	ENST00000428655	.	.	.	5.59	2.54	0.30619	.	.	.	.	.	T	0.61578	0.2358	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57991	-0.7715	4	.	.	.	.	11.5284	0.50593	0.0:0.5586:0.3175:0.1239	.	.	.	.	L	220	.	.	V	-	1	0	C2orf67	210648701	0.995000	0.38212	1.000000	0.80357	0.886000	0.51366	0.083000	0.14871	0.640000	0.30582	-0.310000	0.09108	GTC	-	NULL		0.368	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf67	protein_coding	OTTHUMT00000336633.3	C	NM_152519		210648701	-1	no_errors	NM_152519.2	genbank	human	validated	54_36p	silent	SNP	0.998	G	G	210940456	C	G	210940456	2	3	87	1	0	0	0	0	0	0	0	1	2186	465	17	4		4	C2orf67	2	210940456	Silent	SNP	C	TCGA-AB-2894-03A-01W-0733-08		210940456	32258917	1	925											
PCDHA6	56142	genome.wustl.edu	37	5	140208675	140208675	+	Silent	SNP	T	T	C			TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr5:140208675T>C	ENST00000529310.1	+	1	1113	c.999T>C	c.(997-999)caT>caC	p.H333H	PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.H333H|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	333	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGGGTCATTGCACCGTTT	0.423																																						dbGAP											0			5											36	40	39					5																	140208675		2182	4272	6454	140188859	SO:0001819	synonymous_variant	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.999T>C	5.37:g.140208675T>C		36	2.7	1					140188859	11	47.62	10	O75283|Q9NRT8	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.H333	ENST00000529310.1	37	c.999	CCDS47281.1	5																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.423	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	T	NM_018909		140188859	1	no_errors	NM_018909.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	C	C	140208675	T	C	140208675	2	2	87	1	0	0	0	0	0	0	0	1	11528	1490	52	3		3	PCDHA6	5	140208675	Silent	SNP	T	TCGA-AB-2894-03A-01W-0733-08		140208675	40706585	2	926											
CRISPLD1	83690	genome.wustl.edu	37	8	75928854	75928854	+	Missense_Mutation	SNP	G	G	A	rs201918693	byFrequency	TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr8:75928854G>A	ENST00000262207.4	+	7	1250	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.R75Q|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.R73Q	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	261					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GAAATAGAACGACAGCAGTCA	0.413													G|||	9	0.00179712	0	0	5008	,	,		14166	0.0089		0	False		,,,				2504	0					dbGAP											0			8											160	166	164					8																	75928854		2203	4300	6503	76091409	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.782G>A	8.37:g.75928854G>A	ENSP00000262207:p.Arg261Gln	81	6.9	6		9	30.77	4	76091409	33	26.09	12	B2RA60|B7Z929	Missense_Mutation	SNP	HMMSmart_SM00198,HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain,HMMPfam_SCP,superfamily_PR-1-like,PatternScan_CRISP_2	p.R261Q	ENST00000262207.4	37	c.782	CCDS6219.1	8	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	8.866	0.948050	0.18356	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	T;T;D	0.81499	0.32;-1.18;-1.5	4.98	4.98	0.66077	.	0.338468	0.29314	N	0.012509	T	0.57592	0.2064	N	0.19112	0.55	0.34545	D	0.710671	P;B	0.40431	0.717;0.397	B;B	0.31442	0.13;0.028	T	0.68606	-0.5364	10	0.13853	T	0.58	.	18.8032	0.92027	0.0:0.0:1.0:0.0	.	75;261	B7Z929;Q9H336	.;CRLD1_HUMAN	Q	261;73;75	ENSP00000262207:R261Q;ENSP00000430105:R73Q;ENSP00000429746:R75Q	ENSP00000262207:R261Q	R	+	2	0	CRISPLD1	76091409	1.000000	0.71417	0.946000	0.38457	0.074000	0.17049	5.821000	0.69257	2.734000	0.93682	0.650000	0.86243	CGA	-	NULL		0.413	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	G	NM_031461		76091409	1	no_errors	NM_031461.4	genbank	human	validated	54_36p	missense	SNP	0.995	A	A	75928854	G	A	75928854	3	1	87	1	0	0	0	0	1	0	0	0	3882	1058	37	1	804	1	CRISPLD1	8	75928854	Missense_Mutation	SNP	G	TCGA-AB-2894-03A-01W-0733-08		75928854	70435168	3	927											
PLEC	5339	genome.wustl.edu	37	8	144990833	144990833	+	Missense_Mutation	SNP	G	G	A	rs376072341		TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr8:144990833G>A	ENST00000322810.4	-	32	13736	c.13567C>T	c.(13567-13569)Cgc>Tgc	p.R4523C	PLEC_ENST00000345136.3_Missense_Mutation_p.R4386C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4364C|PLEC_ENST00000527096.1_Missense_Mutation_p.R4409C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4386C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4372C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4354C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4413C|PLEC_ENST00000357649.2_Missense_Mutation_p.R4390C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4523	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCAGGAAGCGCTGGCCGGCC	0.701																																						dbGAP											0			8						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4002		0,0,2001	23	26	25		13237,13114,13090,13567,13060,13156,13168,13156	5.2	1	8		25	1,8321		0,1,4160	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	180,180,180,180,180,180,180,180	0,1,6161	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	4413/4575,4372/4534,4364/4526,4523/4685,4354/4516,4386/4548,4390/4552,4386/4548	144990833	1,12323	2001	4161	6162	145062821	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"plectin 1, intermediate filament binding protein, 500kD", "epidermolysis bullosa simplex 1 (Ogna)", "plectin 1, intermediate filament binding protein 500kDa"	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13567C>T	8.37:g.144990833G>A	ENSP00000323856:p.Arg4523Cys	9	10	1		46	44.58	37	145062821	3	62.5	5	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	HMMPfam_Plectin,HMMSmart_SM00250,PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat	p.R4523C	ENST00000322810.4	37	c.13567	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016990	0.35606	0.0	1.2E-4	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.19	5.19	0.71726	.	0.000000	0.64402	U	0.000010	D	0.92299	0.7557	M	0.92649	3.33	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.93794	0.7095	10	0.87932	D	0	.	18.5216	0.90954	0.0:0.0:1.0:0.0	.	4413;4372;4364;4523;4354;4386;4390;4386	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	C	4386;4390;4386;4354;4523;4364;4372;4413;4409	ENSP00000344848:R4386C;ENSP00000350277:R4390C;ENSP00000346602:R4386C;ENSP00000381756:R4354C;ENSP00000323856:R4523C;ENSP00000347044:R4364C;ENSP00000348702:R4372C;ENSP00000388180:R4413C;ENSP00000434583:R4409C	ENSP00000323856:R4523C	R	-	1	0	PLEC	145062821	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.424000	0.73366	2.693000	0.91896	0.643000	0.83706	CGC	-	HMMPfam_Plectin,HMMSmart_SM00250,superfamily_Plakin repeat		0.701	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC1	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145062821	-1	no_errors	NM_201380.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	144990833	G	A	144990833	3	1	87	1	0	0	0	0	1	0	0	0	12052	1087	38	1	491	1	PLEC	8	144990833	Missense_Mutation	SNP	G	TCGA-AB-2894-03A-01W-0733-08	69061979	144990833	1373189	4	928											
ADAMTS1	9510	genome.wustl.edu	37	21	28214747	28214747	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2894-03A-01W-0733-08	TCGA-AB-2894-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ac7f533d-3f28-49c8-9548-fd7d3d86a42a	243cf7ad-c094-494c-9fee-0523176d3079	g.chr21:28214747G>A	ENST00000284984.3	-	2	1442	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	330	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CAAAAGTTCCGCAGAGTGAGG	0.522																																						dbGAP											0			21											101	80	87					21																	28214747		2203	4300	6503	27136618	SO:0001583	missense	0			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"ADAM metallopeptidases with thrombospondin type 1 motif"	217	protein-coding gene	gene with protein product		605174	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.988C>T	21.37:g.28214747G>A	ENSP00000284984:p.Arg330Trp	212	4.07	9					27136618	63	33.68	32	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,HMMPfam_ADAM_spacer1,PatternScan_DISINTEGRIN_1,superfamily_SSF55486	p.R330W	ENST00000284984.3	37	c.988	CCDS33524.1	21	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599286	0.66332	.	.	ENSG00000154734	ENST00000284984;ENST00000517777;ENST00000517452	D;D;D	0.87029	-2.2;-2.2;-2.2	5.18	0.846	0.18955	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	D	0.92172	0.7518	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.92273	0.5827	9	0.87932	D	0	.	15.5515	0.76155	0.0:0.0:0.3901:0.6099	.	330	Q9UHI8	ATS1_HUMAN	W	330;68;92	ENSP00000284984:R330W;ENSP00000429557:R68W;ENSP00000431065:R92W	ENSP00000284984:R330W	R	-	1	2	ADAMTS1	27136618	0.187000	0.23238	0.929000	0.37066	0.995000	0.86356	0.506000	0.22658	0.299000	0.22661	-0.181000	0.13052	CGG	-	HMMPfam_Reprolysin,superfamily_SSF55486		0.522	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	protein_coding	OTTHUMT00000171650.2	G			27136618	-1	no_errors	NM_006988.3	genbank	human	reviewed	54_36p	missense	SNP	0.998	A	A	28214747	G	A	28214747	3	1	87	1	0	0	0	0	1	0	0	0	255	1086	38	1	1947	1	ADAMTS1	21	28214747	Missense_Mutation	SNP	G	TCGA-AB-2894-03A-01W-0733-08		28214747	19915148	5	929											
PRDM16	63976	genome.wustl.edu	37	1	3328523	3328523	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr1:3328523G>A	ENST00000270722.5	+	9	1811	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	PRDM16_ENST00000511072.1_Missense_Mutation_p.V589M|PRDM16_ENST00000442529.2_Missense_Mutation_p.V588M|PRDM16_ENST00000378398.3_Missense_Mutation_p.V589M|PRDM16_ENST00000514189.1_Missense_Mutation_p.V589M|PRDM16_ENST00000441472.2_Missense_Mutation_p.V588M|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.V588M			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	588					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGACTCCTGTGTGGAGAAGCT	0.662			T	EVI1	"MDS, AML"																																	dbGAP		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	0			1											52	63	59					1																	3328523		2173	4266	6439	3318383	SO:0001583	missense	0			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"Zinc fingers, C2H2-type"	14000	protein-coding gene	gene with protein product	"MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1"	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1762G>A	1.37:g.3328523G>A	ENSP00000270722:p.Val588Met	84	0	0		20	44.44	16	3318383	19	37.5	12	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	HMMSmart_SM00317,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_SET domain	p.V588M	ENST00000270722.5	37	c.1762	CCDS41236.2	1	.	.	.	.	.	.	.	.	.	.	G	3.498	-0.102370	0.06967	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05319	3.48;3.5;3.51;3.51;3.5;3.5;3.51;3.46;3.46	5.1	-1.01	0.10169	.	1.184840	0.06638	N	0.760465	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B;P;B	0.38250	0.257;0.432;0.624;0.306	B;B;B;B	0.39379	0.051;0.215;0.298;0.107	T	0.42172	-0.9467	10	0.32370	T	0.25	.	4.8721	0.13639	0.1556:0.4089:0.3432:0.0923	.	588;588;588;588	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	M	589;589;588;588;588;589;588;404;404;397	ENSP00000426975:V589M;ENSP00000367651:V589M;ENSP00000407968:V588M;ENSP00000405253:V588M;ENSP00000367643:V588M;ENSP00000421400:V589M;ENSP00000270722:V588M;ENSP00000422504:V404M;ENSP00000425796:V397M	ENSP00000270722:V588M	V	+	1	0	PRDM16	3318383	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.193000	0.09573	-0.063000	0.13065	-0.233000	0.12211	GTG	-	NULL		0.662	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM16	protein_coding	OTTHUMT00000001382.3	G	NM_022114		3318383	1	no_errors	NM_022114.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A	A	3328523	G	A	3328523	3	1	88	1	0	0	0	0	1	0	0	0	12457	1377	48	2	1796	2	PRDM16	1	3328523	Missense_Mutation	SNP	G	TCGA-AB-2895-03A-01W-0733-08		3328523	245922098	1	930											
DCAF8	50717	genome.wustl.edu	37	1	160209996	160209996	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr1:160209996A>G	ENST00000368073.3	-	4	648	c.214T>C	c.(214-216)Tca>Cca	p.S72P	DCAF8_ENST00000610139.1_Missense_Mutation_p.S72P|DCAF8_ENST00000475733.1_Missense_Mutation_p.S72P|DCAF8_ENST00000556710.1_Missense_Mutation_p.S226P|DCAF8_ENST00000326837.2_Missense_Mutation_p.S72P|DCAF8_ENST00000608310.1_Missense_Mutation_p.S226P|DCAF8_ENST00000368074.1_Missense_Mutation_p.S72P			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	72					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTCACCTGAGCTCTCTGTG	0.517																																						dbGAP											0			1											128	91	103					1																	160209996		2203	4300	6503	158476620	SO:0001583	missense	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	24891	protein-coding gene	gene with protein product		615820	"WD repeat domain 42A"	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.214T>C	1.37:g.160209996A>G	ENSP00000357052:p.Ser72Pro	109	0.91	1		96	48.11	89	158476620	114	48.44	109	D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.S72P	ENST00000368073.3	37	c.214	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	A	14.76	2.633089	0.47049	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000447377;ENST00000440682;ENST00000407642;ENST00000556710;ENST00000485079	T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.19;-0.19	5.03	5.03	0.67393	.	0.496921	0.16558	U	0.209179	T	0.62962	0.2471	L	0.43152	1.355	0.34251	D	0.678799	B;D;B	0.64830	0.002;0.994;0.007	B;P;B	0.60117	0.005;0.869;0.006	T	0.62751	-0.6788	10	0.31617	T	0.26	-3.5941	13.7732	0.63038	1.0:0.0:0.0:0.0	.	226;72;72	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	P	72;72;72;226;72;72;72;226;284	ENSP00000357052:S72P;ENSP00000318227:S72P;ENSP00000357053:S72P;ENSP00000451989:S226P;ENSP00000451235:S226P	ENSP00000318227:S72P	S	-	1	0	RP11-574F21.3;DCAF8	158476620	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.242000	0.72376	1.889000	0.54706	0.528000	0.53228	TCA	-	NULL		0.517	DCAF8-001	KNOWN	basic|CCDS	protein_coding	WDR42A	protein_coding	OTTHUMT00000077402.2	A	NM_015726		158476620	-1	no_errors	NM_015726.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	160209996	A	G	160209996	3	3	88	1	0	0	0	0	1	0	0	0	4276	304	11	3	1623	3	DCAF8	1	160209996	Missense_Mutation	SNP	A	TCGA-AB-2895-03A-01W-0733-08	156881473	160209996	89040625	2	931											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	130	0	0		39	59.18	58	25310746	18	47.06	16	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	88	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2895-03A-01W-0733-08		25457242	217742131	3	932											
SH3TC2	79628	genome.wustl.edu	37	5	148406153	148406153	+	Missense_Mutation	SNP	C	C	T	rs140666774	byFrequency	TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr5:148406153C>T	ENST00000515425.1	-	12	3136	c.3035G>A	c.(3034-3036)cGg>cAg	p.R1012Q	SH3TC2_ENST00000394358.2_Missense_Mutation_p.G933R|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.R559Q|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R1005Q	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1012					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTAGGTTCCGATAAAGCTG	0.557																																						dbGAP											0			5						C	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	83	90	88		3035	2.4	1	5	dbSNP_134	88	0,8600		0,0,4300	no	missense	SH3TC2	NM_024577.3	43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging	1012/1289	148406153	2,13004	2203	4300	6503	148386346	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"Tetratricopeptide (TTC) repeat domain containing"	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3035G>A	5.37:g.148406153C>T	ENSP00000423660:p.Arg1012Gln	33	0	0		11	15.38	2	148386346	78	17.89	17	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_SH3_2,HMMSmart_SM00028,superfamily_TPR-like	p.R1012Q	ENST00000515425.1	37	c.3035	CCDS4293.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.692|0.692	-0.794232|-0.794232	0.02862|0.02862	4.54E-4|4.54E-4	0.0|0.0	ENSG00000169247|ENSG00000169247	ENST00000394358|ENST00000538184;ENST00000515425;ENST00000512049	T|T;T;T	0.74632|0.76186	-0.86|-1.0;-0.93;-1.0	5.37|5.37	2.43|2.43	0.29744|0.29744	.|Tetratricopeptide-like helical (1);	.|0.077470	.|0.52532	.|D	.|0.000075	T|T	0.42200|0.42200	0.1192|0.1192	N|N	0.05383|0.05383	-0.06|-0.06	0.23287|0.23287	N|N	0.99797|0.99797	B|B;B;B	0.14438|0.32620	0.01|0.378;0.378;0.378	B|B;B;B	0.08055|0.16289	0.003|0.015;0.015;0.015	T|T	0.16837|0.16837	-1.0389|-1.0389	9|10	0.87932|0.22706	D|T	0|0.39	-16.2865|-16.2865	3.1462|3.1462	0.06472|0.06472	0.1961:0.4168:0.0:0.3871|0.1961:0.4168:0.0:0.3871	.|.	933|1005;1012;1012	C9JLC3|Q14CC0;E9PDF1;Q8TF17	.|.;.;S3TC2_HUMAN	R|Q	933|559;1012;1005	ENSP00000377886:G933R|ENSP00000441427:R559Q;ENSP00000423660:R1012Q;ENSP00000421860:R1005Q	ENSP00000377886:G933R|ENSP00000425627:R1012Q	G|R	-|-	1|2	0|0	SH3TC2|SH3TC2	148386346|148386346	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.021000|0.021000	0.10359|0.10359	2.253000|2.253000	0.43205|0.43205	0.845000|0.845000	0.35118|0.35118	-0.229000|-0.229000	0.12294|0.12294	GGA|CGG	-	superfamily_TPR-like		0.557	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	protein_coding	OTTHUMT00000252186.2	C	NM_024577		148386346	-1	no_errors	NM_024577.3	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	148406153	C	T	148406153	3	4	88	1	0	0	0	0	1	0	0	0	14262	652	23	1	855	1	SH3TC2	5	148406153	Missense_Mutation	SNP	C	TCGA-AB-2895-03A-01W-0733-08		148406153	32509107	4	933											
ATP10B	23120	genome.wustl.edu	37	5	160113140	160113140	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr5:160113140T>C	ENST00000327245.5	-	6	1262	c.416A>G	c.(415-417)aAg>aGg	p.K139R	ATP10B_ENST00000518411.1_5'Flank|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	139					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGGTGTCTCTTGAAGTCCTC	0.438																																						dbGAP											0			5											112	105	107					5																	160113140		1928	4123	6051	160045718	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"ATPases / P-type"	13543	protein-coding gene	gene with protein product			"ATPase, Class V, type 10B"			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.416A>G	5.37:g.160113140T>C	ENSP00000313600:p.Lys139Arg	114	0.85	1					160045718	114	36.31	65	Q9H725	Missense_Mutation	SNP	HMMPfam_E1-E2_ATPase,HMMPfam_Hydrolase_3,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.K139R	ENST00000327245.5	37	c.416	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	1.040	-0.679138	0.03378	.	.	ENSG00000118322	ENST00000327245	T	0.64260	-0.09	5.24	0.116	0.14647	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.462208	0.24224	N	0.040413	T	0.31071	0.0785	N	0.02708	-0.52	0.32859	D	0.507685	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.13407	0.009;0.001;0.005	T	0.26744	-1.0094	9	.	.	.	.	9.8762	0.41205	0.0:0.3963:0.0:0.6037	.	183;139;139	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	R	139	ENSP00000313600:K139R	.	K	-	2	0	ATP10B	160045718	0.983000	0.35010	0.818000	0.32626	0.344000	0.29017	0.225000	0.17757	-0.200000	0.10300	0.533000	0.62120	AAG	-	HMMPfam_E1-E2_ATPase		0.438	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	protein_coding	OTTHUMT00000374127.1	T	NM_025153		160045718	-1	no_errors	NM_025153.2	genbank	human	validated	54_36p	missense	SNP	0.985	C	C	160113140	T	C	160113140	3	2	88	1	0	0	0	0	1	0	0	0	1117	1609	56	3	4053	3	ATP10B	5	160113140	Missense_Mutation	SNP	T	TCGA-AB-2895-03A-01W-0733-08	11706987	160113140	20802120	5	934											
DOCK2	1794	genome.wustl.edu	37	5	169125454	169125454	+	Splice_Site	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr5:169125454G>A	ENST00000256935.8	+	11	1135		c.e11+1			NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTTCACCCGTAAGACATTT	0.428																																						dbGAP											0			5											215	197	203					5																	169125454		2203	4300	6503	169058032	SO:0001630	splice_region_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1055+1G>A	5.37:g.169125454G>A		119	0	0		3	25	1	169058032	130	42.22	95	Q2M3I0|Q96AK7	Splice_Site	SNP	-	e11+1	ENST00000256935.8	37	c.1055+1	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439181	0.83885	.	.	ENSG00000134516	ENST00000256935	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9882	0.97356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK2	169058032	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	9.336000	0.96533	2.824000	0.97209	0.655000	0.94253	.	-	-		0.428	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	G	NM_004946	Intron	169058032	1	no_errors	NM_004946.2	genbank	human	validated	54_36p	splice_site	SNP	1.000	A	A	169125454	G	A	169125454	5	1	88	1	0	0	0	0	0	0	1	0	4687	1159	40	1	1098	1	DOCK2	5	169125454	Splice_Site	SNP	G	TCGA-AB-2895-03A-01W-0733-08	9012314	169125454	11789806	6	935											
TBX18	9096	genome.wustl.edu	37	6	85454009	85454009	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr6:85454009G>A	ENST00000369663.5	-	6	1311	c.974C>T	c.(973-975)gCt>gTt	p.A325V	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.A167V	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	325					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAAGCCTTTAGCAAATGGATT	0.353																																						dbGAP											0			6											45	45	45					6																	85454009		2203	4299	6502	85510728	SO:0001583	missense	0			AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"T-boxes"	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.974C>T	6.37:g.85454009G>A	ENSP00000358677:p.Ala325Val	55	0	0					85510728	37	42.19	27	A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd,PatternScan_TBOX_2,PatternScan_TBOX_1	p.A325V	ENST00000369663.5	37	c.974	CCDS34495.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.630702	0.96682	.	.	ENSG00000112837	ENST00000416980;ENST00000369663	D	0.92048	-2.96	5.92	5.92	0.95590	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97698	0.9245	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.955	D	0.98223	1.0479	10	0.87932	D	0	.	20.3213	0.98679	0.0:0.0:1.0:0.0	.	241;325	Q8IW86;O95935	.;TBX18_HUMAN	V	240;325	ENSP00000358677:A325V	ENSP00000358677:A325V	A	-	2	0	TBX18	85510728	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.476000	0.97823	2.810000	0.96702	0.650000	0.86243	GCT	-	HMMPfam_T-box,HMMSmart_TBOX,superfamily_P53_like_DNA_bnd		0.353	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX18	protein_coding	OTTHUMT00000041378.2	G	NM_001080508		85510728	-1	no_errors	NM_001080508.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	85454009	G	A	85454009	3	1	88	1	0	0	0	0	1	0	0	0	15650	971	34	2	861	2	TBX18	6	85454009	Missense_Mutation	SNP	G	TCGA-AB-2895-03A-01W-0733-08		85454009	85661058	7	936											
DHX32	55760	genome.wustl.edu	37	10	127569152	127569152	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr10:127569152A>G	ENST00000284690.3	-	1	732	c.242T>C	c.(241-243)gTg>gCg	p.V81A	DHX32_ENST00000284688.6_Missense_Mutation_p.V81A	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	81	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAAACAATCACGATTTGATT	0.313																																						dbGAP											0			10											77	74	75					10																	127569152		2203	4300	6503	127559142	SO:0001583	missense	0				CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"DEAH-boxes"	16717	protein-coding gene	gene with protein product		607960	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.242T>C	10.37:g.127569152A>G	ENSP00000284690:p.Val81Ala	78	0	0		15	54.55	18	127559142	52	44.68	42	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	HMMPfam_HA2,HMMPfam_DUF1605,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V81A	ENST00000284690.3	37	c.242	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	A	24.2	4.499932	0.85176	.	.	ENSG00000089876	ENST00000284690;ENST00000284688;ENST00000415732	T;T;T	0.03553	3.89;3.89;3.89	5.04	5.04	0.67666	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.20414	0.0491	M	0.90595	3.13	0.34505	D	0.706496	D	0.67145	0.996	P	0.60473	0.875	T	0.43814	-0.9368	10	0.87932	D	0	-31.9271	14.9425	0.71006	1.0:0.0:0.0:0.0	.	81	Q7L7V1	DHX32_HUMAN	A	81	ENSP00000284690:V81A;ENSP00000284688:V81A;ENSP00000406781:V81A	ENSP00000284688:V81A	V	-	2	0	DHX32	127559142	1.000000	0.71417	0.602000	0.28890	0.942000	0.58702	7.981000	0.88123	2.113000	0.64589	0.454000	0.30748	GTG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.313	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	protein_coding	OTTHUMT00000050945.2	A	NM_018180		127559142	-1	no_errors	NM_018180.2	genbank	human	reviewed	54_36p	missense	SNP	0.861	G	G	127569152	A	G	127569152	3	3	88	1	0	0	0	0	1	0	0	0	4505	159	6	3	2033	3	DHX32	10	127569152	Missense_Mutation	SNP	A	TCGA-AB-2895-03A-01W-0733-08		127569152	7965595	8	937											
LDLRAD3	143458	genome.wustl.edu	37	11	36250884	36250884	+	Silent	SNP	C	C	T			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr11:36250884C>T	ENST00000315571.5	+	6	996	c.975C>T	c.(973-975)ggC>ggT	p.G325G	LDLRAD3_ENST00000528989.1_Silent_p.G276G|LDLRAD3_ENST00000524419.1_Silent_p.G315G	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	325					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GGCAGCCTGGCCCCCAGGAGG	0.632																																						dbGAP											0			11											48	58	54					11																	36250884		2201	4294	6495	36207460	SO:0001819	synonymous_variant	0			AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.975C>T	11.37:g.36250884C>T		28	0	0		0	100	1	36207460	21	34.38	11	B7Z1U3|B9EG81|Q8NBJ0	Silent	SNP	HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich	p.G325	ENST00000315571.5	37	c.975	CCDS31462.1	11																																																																																			-	NULL		0.632	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAD3	protein_coding	OTTHUMT00000389085.1	C	NM_174902		36207460	1	no_errors	NM_174902.2	genbank	human	provisional	54_36p	silent	SNP	0.060	T	T	36250884	C	T	36250884	2	4	88	1	0	0	0	0	0	0	0	1	8707	726	26	2		2	LDLRAD3	11	36250884	Silent	SNP	C	TCGA-AB-2895-03A-01W-0733-08		36250884	98755632	9	938											
TSKU	25987	genome.wustl.edu	37	11	76506897	76506897	+	Silent	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr11:76506897G>A	ENST00000527881.1	+	2	1263	c.237G>A	c.(235-237)gcG>gcA	p.A79A	TSKU_ENST00000333090.4_Silent_p.A79A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	79					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CGGTGTTGGCGGGGCCGGGCT	0.647																																						dbGAP											0			11											67	53	58					11																	76506897		2200	4292	6492	76184545	SO:0001819	synonymous_variant	0			AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"leucine rich repeat containing 54", "tsukushin", "tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.237G>A	11.37:g.76506897G>A		63	0	0					76184545	40	35.48	22	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Silent	SNP	HMMSmart_LRRNT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52047	p.A79	ENST00000527881.1	37	c.237	CCDS8246.1	11																																																																																			-	superfamily_SSF52047		0.647	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSKU	protein_coding	OTTHUMT00000382871.1	G	NM_015516		76184545	1	no_errors	NM_015516.3	genbank	human	validated	54_36p	silent	SNP	0.722	A	A	76506897	G	A	76506897	2	1	88	1	0	0	0	0	0	0	0	1	16624	1103	39	1		1	TSKU	11	76506897	Silent	SNP	G	TCGA-AB-2895-03A-01W-0733-08	40256013	76506897	58499619	10	939											
CAND1	55832	genome.wustl.edu	37	12	67700254	67700254	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr12:67700254T>G	ENST00000545606.1	+	10	3243	c.2806T>G	c.(2806-2808)Tta>Gta	p.L936V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	936					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CTGGGCCTTATTACTAAAGCA	0.413																																						dbGAP											0			12											76	76	76					12																	67700254		2203	4300	6503	65986521	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"TBP interacting protein"	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2806T>G	12.37:g.67700254T>G	ENSP00000442318:p.Leu936Val	47	2.04	1		43	49.41	42	65986521	56	56.92	74	B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	HMMPfam_HEAT,HMMPfam_TIP120,superfamily_ARM repeat	p.L936V	ENST00000545606.1	37	c.2806	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	T	14.99	2.699489	0.48307	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.37752	1.18;1.18	5.76	0.824	0.18818	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64450	0.2599	H	0.95004	3.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.973	T	0.67507	-0.5653	9	.	.	.	-7.9114	8.9426	0.35740	0.0:0.6751:0.0:0.3249	.	768;936	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	V	936;936;476	ENSP00000442318:L936V;ENSP00000444089:L476V	.	L	+	1	2	CAND1	65986521	0.998000	0.40836	0.977000	0.42913	0.990000	0.78478	0.656000	0.24948	0.140000	0.18849	0.482000	0.46254	TTA	-	superfamily_ARM repeat		0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	protein_coding	OTTHUMT00000402105.1	T	NM_018448		65986521	1	no_errors	NM_018448.3	genbank	human	validated	54_36p	missense	SNP	0.998	G	G	67700254	T	G	67700254	3	3	88	1	0	0	0	0	1	0	0	0	2615	1490	52	5	2844	5	CAND1	12	67700254	Missense_Mutation	SNP	T	TCGA-AB-2895-03A-01W-0733-08		67700254	66151641	11	940											
FLT3	2322	genome.wustl.edu	37	13	28608218	28608219	+	Splice_Site	INS	-	-	CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	-	-	-	CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr13:28608218_28608219insCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT	ENST00000241453.7	-	14	1918_1919		c.e14+1		FLT3_ENST00000380982.4_Splice_Site|FLT3_ENST00000537084.1_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F612_G613ins20(1)|p.612_613>QVTGSSDNEYFYVDFREYEYDLKWEFPRENLEL(1)|p.F612_G613ins16(1)|p.F612_G613ins17(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCATTCTTACCAAACTCTAAA	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	4	Insertion - In frame(3)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	13																																								27506219	SO:0001630	splice_region_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1837+1->AATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTG	13.37:g.28608218_28608219insCAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT									27506218				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	-	in_frame_ins	ENST00000241453.7	37		CCDS31953.1	13																																																																																			-	-		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-		Intron	27506219	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT	CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT	28608219	-	CAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATT	28608218	8	5	88	1	0	1	1	0	0	0	1	0	5942	521	18	0	1187	0	FLT3	13	28608218	Splice_Site	INS	-	TCGA-AB-2895-03A-01W-0733-08		28608218	86561660	12	941											
GUCY2D	3000	genome.wustl.edu	37	17	7917239	7917239	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr17:7917239C>T	ENST00000254854.4	+	12	2455	c.2305C>T	c.(2305-2307)Ccc>Tcc	p.P769S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				ACTGTGTCGGCCCTTGGTGTC	0.627																																						dbGAP											0			17											82	83	83					17																	7917239		2203	4300	6503	7857964	SO:0001583	missense	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"cone rod dystrophy 6"	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2305C>T	17.37:g.7917239C>T	ENSP00000254854:p.Pro769Ser	75	0	0		0	100	1	7857964	33	36.54	19	Q6LEA7	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_ANF_receptor,superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_GUANYLATE_CYCLASE_1,superfamily_SSF53822	p.P769S	ENST00000254854.4	37	c.2305	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	C	30	5.055702	0.93793	.	.	ENSG00000132518	ENST00000254854	D	0.86230	-2.09	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000074	D	0.95201	0.8444	M	0.92649	3.33	0.53688	D	0.999973	D	0.89917	1.0	D	0.87578	0.998	D	0.95773	0.8810	10	0.87932	D	0	.	18.2031	0.89846	0.0:1.0:0.0:0.0	.	769	Q02846	GUC2D_HUMAN	S	769	ENSP00000254854:P769S	ENSP00000254854:P769S	P	+	1	0	GUCY2D	7857964	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.244000	0.78228	2.837000	0.97791	0.655000	0.94253	CCC	-	superfamily_Kinase_like,HMMPfam_Pkinase		0.627	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	protein_coding	OTTHUMT00000226973.2	C			7857964	1	no_errors	NM_000180.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	7917239	C	T	7917239	3	4	88	1	0	0	0	0	1	0	0	0	6897	739	26	2	2347	2	GUCY2D	17	7917239	Missense_Mutation	SNP	C	TCGA-AB-2895-03A-01W-0733-08		7917239	73277971	13	942											
GAS7	8522	genome.wustl.edu	37	17	9830018	9830018	+	Silent	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr17:9830018G>A	ENST00000432992.2	-	10	1114	c.954C>T	c.(952-954)tgC>tgT	p.C318C	GAS7_ENST00000542249.1_Silent_p.C254C|GAS7_ENST00000579158.1_Silent_p.C254C|GAS7_ENST00000580865.1_Silent_p.C178C|GAS7_ENST00000585266.1_Silent_p.C258C|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000323816.4_Silent_p.C258C|GAS7_ENST00000437099.2_Silent_p.C254C|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000540214.1_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	318					actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C178*(1)|p.C318*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						TGTGGTGGTCGCACTTCTTCA	0.592			T	MLL	AML*																																	dbGAP		Dom	yes		17	17p	8522	growth arrest-specific 7		L	2	Substitution - Nonsense(2)	lung(2)	17											93	87	89					17																	9830018		2203	4300	6503	9770743	SO:0001819	synonymous_variant	0			AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.954C>T	17.37:g.9830018G>A		149	1.31	2		28	14.71	5	9770743	127	23.49	39	A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Silent	SNP	HMMPfam_FCH,HMMSmart_SM00055,HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain	p.C318	ENST00000432992.2	37	c.954	CCDS11152.1	17																																																																																			-	NULL		0.592	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS7	protein_coding	OTTHUMT00000439883.1	G	NM_003644, NM_201432, NM_201433		9770743	-1	no_errors	NM_201433.1	genbank	human	reviewed	54_36p	silent	SNP	0.891	A	A	9830018	G	A	9830018	2	1	88	1	0	0	0	0	0	0	0	1	6250	1079	38	1		1	GAS7	17	9830018	Silent	SNP	G	TCGA-AB-2895-03A-01W-0733-08	1912779	9830018	71365192	14	943											
MED24	9862	genome.wustl.edu	37	17	38189624	38189624	+	Silent	SNP	G	G	T	rs370550827		TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr17:38189624G>T	ENST00000394128.2	-	7	726	c.645C>A	c.(643-645)gcC>gcA	p.A215A	MED24_ENST00000394126.1_Silent_p.A240A|MED24_ENST00000479829.1_5'Flank|MED24_ENST00000394127.2_Silent_p.A202A|MED24_ENST00000501516.3_Silent_p.A234A|MED24_ENST00000356271.3_Silent_p.A202A	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	215					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACTGCTCGGCCTGACTCC	0.607																																						dbGAP											0			17											43	40	41					17																	38189624		2203	4300	6503	35443150	SO:0001819	synonymous_variant	0			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"thyroid hormone receptor associated protein 4", "cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.645C>A	17.37:g.38189624G>T		120	0	0		40	49.37	39	35443150	39	51.25	41	A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	NULL	p.A215	ENST00000394128.2	37	c.645	CCDS11359.1	17																																																																																			-	NULL		0.607	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	protein_coding	OTTHUMT00000257147.2	G	NM_014815		35443150	-1	no_errors	NM_014815.1	genbank	human	reviewed	54_36p	silent	SNP	0.346	T	T	38189624	G	T	38189624	2	4	88	1	0	0	0	0	0	0	0	1	9442	1103	39	4		4	MED24	17	38189624	Silent	SNP	G	TCGA-AB-2895-03A-01W-0733-08	28359606	38189624	43005586	15	944											
ALDH16A1	126133	genome.wustl.edu	37	19	49965892	49965892	+	Silent	SNP	G	G	A			TCGA-AB-2895-03A-01W-0733-08	TCGA-AB-2895-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ced1c58f-9241-45ee-9f22-0bfa1554881e	ed37c4cc-1273-4e25-ba04-7d9bf757fffa	g.chr19:49965892G>A	ENST00000293350.4	+	8	1141	c.978G>A	c.(976-978)cgG>cgA	p.R326R	ALDH16A1_ENST00000455361.2_Silent_p.R275R|ALDH16A1_ENST00000540132.1_Silent_p.R163R|CTD-3148I10.9_ENST00000599536.1_5'Flank|ALDH16A1_ENST00000433981.2_Silent_p.R161R	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	326						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		TGCAGGAGCGGATGGGGCGGC	0.657																																						dbGAP											0			19											52	56	55					19																	49965892		2203	4300	6503	54657704	SO:0001819	synonymous_variant	0			AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"Aldehyde dehydrogenases"	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.978G>A	19.37:g.49965892G>A		23	0	0		17	29.17	7	54657704	32	20	8	B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	HMMPfam_Aldedh,superfamily_ALDH-like	p.R326	ENST00000293350.4	37	c.978	CCDS12766.1	19																																																																																			-	HMMPfam_Aldedh,superfamily_ALDH-like		0.657	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH16A1	protein_coding	OTTHUMT00000465358.1	G	NM_153329		54657704	1	no_errors	NM_153329.1	genbank	human	validated	54_36p	silent	SNP	0.406	A	A	49965892	G	A	49965892	2	1	88	1	0	0	0	0	0	0	0	1	488	1161	41	2		2	ALDH16A1	19	49965892	Silent	SNP	G	TCGA-AB-2895-03A-01W-0733-08		49965892	9163091	16	945											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2896-03A-01W-0733-08	TCGA-AB-2896-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5af54c99-17a9-4dd6-9be1-45ac66819716	b49520b5-7cd3-48ff-aafa-c798a7637740	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	53	34.15	28		43	56	56	25310746	29	43.14	22	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	89	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2896-03A-01W-0733-08		25457242	217742131	1	946											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2896-03A-01W-0733-08	TCGA-AB-2896-11A-01W-0732-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5af54c99-17a9-4dd6-9be1-45ac66819716	b49520b5-7cd3-48ff-aafa-c798a7637740	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	89	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2896-03A-01W-0733-08		170837547	10077713	2	947											
SLC39A5	283375	genome.wustl.edu	37	12	56631015	56631016	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2896-03A-01W-0733-08	TCGA-AB-2896-11A-01W-0732-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5af54c99-17a9-4dd6-9be1-45ac66819716	b49520b5-7cd3-48ff-aafa-c798a7637740	g.chr12:56631015_56631016insG	ENST00000266980.4	+	10	1663_1664	c.1370_1371insG	c.(1369-1374)ttggggfs	p.LG457fs	SLC39A5_ENST00000454355.2_Frame_Shift_Ins_p.LG457fs|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	457					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCTGGGATTGGGGGGTGCAG	0.639																																						dbGAP											0			12																																								54917283	SO:0001589	frameshift_variant	0				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"Solute carriers"	20502	protein-coding gene	gene with protein product		608730	"solute carrier family 39 (metal ion transporter), member 5"				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1376dupG	12.37:g.56631021_56631021dupG	ENSP00000266980:p.Leu457fs	33	0	0		2	0	0	54917282	27	12.9	4	B2R808|Q8N6Y3	Frame_Shift_Ins	INS	HMMPfam_Zip	p.A459fs	ENST00000266980.4	37	c.1367_1368	CCDS8912.2	12																																																																																			-	HMMPfam_Zip		0.639	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	protein_coding	OTTHUMT00000346834.1	-	NM_173596		54917283	1	no_errors	NM_173596.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.797:0.707	G	G	56631016	-	G	56631015	7	5	89	1	0	1	1	0	0	0	0	0	14621	1821	63	0	1404	0	SLC39A5	12	56631015	Frame_Shift_Ins	INS	-	TCGA-AB-2896-03A-01W-0733-08		56631015	77220880	3	948											
PHIP	55023	genome.wustl.edu	37	6	79735852	79735852	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2897-03A-01W-0733-08	TCGA-AB-2897-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c5cf74cb-e85e-4c8e-867f-e31d71d24045	0ca12dcf-77b9-4ee1-9509-b7619271484c	g.chr6:79735852C>A	ENST00000275034.4	-	8	797	c.630G>T	c.(628-630)tgG>tgT	p.W210C		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	210					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CATCTGTTGCCCATATTTTCA	0.348																																						dbGAP											0			6											235	227	230					6																	79735852		2203	4300	6503	79792571	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.630G>T	6.37:g.79735852C>A	ENSP00000275034:p.Trp210Cys	155	0	0		56	15.15	10	79792571	133	15.72	25	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_BROMODOMAIN_1,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.W210C	ENST00000275034.4	37	c.630	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413535	0.83449	.	.	ENSG00000146247	ENST00000275034	D	0.83506	-1.73	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	D	0.94125	0.8116	H	0.96662	3.86	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95673	0.8725	9	.	.	.	-5.7854	18.5098	0.90911	0.0:1.0:0.0:0.0	.	210;210	A7J992;Q8WWQ0	.;PHIP_HUMAN	C	210	ENSP00000275034:W210C	.	W	-	3	0	PHIP	79792571	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.600000	0.87896	0.650000	0.86243	TGG	-	HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,HMMPfam_WD40		0.348	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	protein_coding	OTTHUMT00000041297.2	C			79792571	-1	no_errors	NM_017934.5	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	79735852	C	A	79735852	3	1	90	1	0	0	0	0	1	0	0	0	11842	624	22	4	4967	4	PHIP	6	79735852	Missense_Mutation	SNP	C	TCGA-AB-2897-03A-01W-0733-08		79735852	91379215	1	949											
AKD1	221264	genome.wustl.edu	37	6	109814625	109814625	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2897-03A-01W-0733-08	TCGA-AB-2897-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c5cf74cb-e85e-4c8e-867f-e31d71d24045	0ca12dcf-77b9-4ee1-9509-b7619271484c	g.chr6:109814625G>A	ENST00000424296.2	-	41	5759	c.5683C>T	c.(5683-5685)Cat>Tat	p.H1895Y	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1895					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TTTAACTTATGATCAAAGTCA	0.393																																						dbGAP											0			6											201	201	201					6																	109814625		2203	4300	6503	109921318	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1"	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.5683C>T	6.37:g.109814625G>A	ENSP00000410186:p.His1895Tyr	105	0.93	1		4	33.33	2	109921318	115	39.58	76	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	NULL	p.H294Y	ENST00000424296.2	37	c.880	CCDS55048.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.582039|1.582039	0.28180|0.28180	.|.	.|.	ENSG00000155085|ENSG00000155085	ENST00000424296|ENST00000490722	T|.	0.65178|.	-0.14|.	5.58|5.58	3.79|3.79	0.43588|0.43588	.|.	0.527425|.	0.21983|.	N|.	0.066277|.	T|T	0.42086|0.42086	0.1187|0.1187	L|L	0.53249|0.53249	1.67|1.67	0.54753|0.54753	D|D	0.999982|0.999982	P;B|.	0.34977|.	0.478;0.003|.	B;B|.	0.33295|.	0.161;0.005|.	T|T	0.37197|0.37197	-0.9716|-0.9716	9|5	.|.	.|.	.|.	.|.	6.3624|6.3624	0.21435|0.21435	0.2146:0.1326:0.6529:0.0|0.2146:0.1326:0.6529:0.0	.|.	280;1895|.	B7ZL24;Q5TCS8|.	.;AKD1_HUMAN|.	Y|L	1895|295	ENSP00000410186:H1895Y|.	.|.	H|S	-|-	1|2	0|0	AKD1|AKD1	109921318|109921318	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	1.950000|1.950000	0.40323|0.40323	0.710000|0.710000	0.31997|0.31997	0.591000|0.591000	0.81541|0.81541	CAT|TCA	-	NULL		0.393	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf224	protein_coding		G	NM_001145128		109921318	-1	no_errors	NM_173559.1	genbank	human	predicted	54_36p	missense	SNP	0.975	A	A	109814625	G	A	109814625	3	1	90	1	0	0	0	0	1	0	0	0	460	1290	45	2	56	2	AKD1	6	109814625	Missense_Mutation	SNP	G	TCGA-AB-2897-03A-01W-0733-08	30078773	109814625	61300442	2	950											
MLLT4	4301	genome.wustl.edu	37	6	168352305	168352305	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2897-03A-01W-0733-08	TCGA-AB-2897-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c5cf74cb-e85e-4c8e-867f-e31d71d24045	0ca12dcf-77b9-4ee1-9509-b7619271484c	g.chr6:168352305G>A	ENST00000447894.2	+	29	4250	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	MLLT4_ENST00000392112.1_Missense_Mutation_p.R1400H|MLLT4_ENST00000392108.3_Missense_Mutation_p.R1417H|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1417H|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1424H|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1416H|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1417H			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1417					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GAACATCAGCGTTGGTATGAG	0.592			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"		L	0			6											92	86	88					6																	168352305		2203	4300	6503	168095154	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4250G>A	6.37:g.168352305G>A	ENSP00000404595:p.Arg1417His	43	2.27	1					168095154	124	32.97	61	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_RA,HMMPfam_FHA,HMMSmart_FHA,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,superfamily_SMAD_FHA,HMMPfam_DIL,superfamily_SSF54236	p.R1416H	ENST00000447894.2	37	c.4247		6	.	.	.	.	.	.	.	.	.	.	G	17.32	3.360765	0.61403	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.05996	3.58;3.44;3.58;3.54;3.36;3.45;3.44	5.52	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.15176	0.0366	M	0.72479	2.2	0.51482	D	0.999921	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.999;0.997;0.997	T	0.00790	-1.1565	10	0.72032	D	0.01	-8.0543	14.1994	0.65693	0.0714:0.0:0.9286:0.0	.	1417;1416;1417;1401	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	H	1417;1424;1417;1417;1400;1417;1416;1417	ENSP00000341118:R1417H;ENSP00000252692:R1424H;ENSP00000375956:R1417H;ENSP00000355771:R1417H;ENSP00000375960:R1400H;ENSP00000383623:R1416H;ENSP00000404595:R1417H	ENSP00000345834:R1417H	R	+	2	0	MLLT4	168095154	1.000000	0.71417	0.802000	0.32245	0.086000	0.17979	6.948000	0.75965	1.333000	0.45449	0.655000	0.94253	CGT	-	NULL		0.592	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	protein_coding	OTTHUMT00000372077.1	G	NM_005936		168095154	1	no_errors	NM_001040001.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	168352305	G	A	168352305	3	1	90	1	0	0	0	0	1	0	0	0	9629	1145	40	1	4364	1	MLLT4	6	168352305	Missense_Mutation	SNP	G	TCGA-AB-2897-03A-01W-0733-08	58537680	168352305	2762762	3	951											
FAM155A	728215	genome.wustl.edu	37	13	107822902	107822902	+	Silent	SNP	G	G	A			TCGA-AB-2897-03A-01W-0733-08	TCGA-AB-2897-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c5cf74cb-e85e-4c8e-867f-e31d71d24045	0ca12dcf-77b9-4ee1-9509-b7619271484c	g.chr13:107822902G>A	ENST00000375915.2	-	3	1458	c.1320C>T	c.(1318-1320)gcC>gcT	p.A440A		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	440						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AGCTCAGTCCGGCTGTGTTCT	0.532																																						dbGAP											0			13											145	113	124					13																	107822902		2203	4300	6503	106620903	SO:0001819	synonymous_variant	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1320C>T	13.37:g.107822902G>A		299	0.33	1					106620903	243	30.57	107	B2RUV1|B7Z334	Silent	SNP	NULL	p.A440	ENST00000375915.2	37	c.1320	CCDS32006.1	13																																																																																			-	NULL		0.532	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	protein_coding	OTTHUMT00000045736.2	G	NM_001080396		106620903	-1	no_errors	NM_001080396.1	genbank	human	provisional	54_36p	silent	SNP	0.272	A	A	107822902	G	A	107822902	2	1	90	1	0	0	0	0	0	0	0	1	5465	1103	39	1		1	FAM155A	13	107822902	Silent	SNP	G	TCGA-AB-2897-03A-01W-0733-08		107822902	7346976	4	952											
OR11H12	440153	genome.wustl.edu	37	14	19378512	19378512	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2897-03A-01W-0733-08	TCGA-AB-2897-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c5cf74cb-e85e-4c8e-867f-e31d71d24045	0ca12dcf-77b9-4ee1-9509-b7619271484c	g.chr14:19378512C>A	ENST00000550708.1	+	1	991	c.919C>A	c.(919-921)Ctc>Atc	p.L307I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATCTATAGCCTCCAGAATAA	0.428																																						dbGAP											0			14											10	12	11					14																	19378512		1699	3687	5386	18448512	SO:0001583	missense	0				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"GPCR / Class A : Olfactory receptors"	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.919C>A	14.37:g.19378512C>A	ENSP00000449002:p.Leu307Ile	63	0	0					18448512	32	41.82	23		Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.L307I	ENST00000550708.1	37	c.919	CCDS32017.1	14	.	.	.	.	.	.	.	.	.	.	c	10.56	1.384023	0.25031	.	.	ENSG00000257115	ENST00000550708	T	0.44881	0.91	0.585	0.585	0.17428	.	0.204155	0.23694	U	0.045482	T	0.62122	0.2402	M	0.91249	3.19	0.22066	N	0.999384	D	0.71674	0.998	D	0.72625	0.978	T	0.65463	-0.6162	9	0.87932	D	0	.	3.0137	0.06052	0.0:0.6523:0.0:0.3477	.	307	B2RN74	O11HC_HUMAN	I	307	ENSP00000449002:L307I	ENSP00000449002:L307I	L	+	1	0	CR383656.1	18448512	0.153000	0.22777	0.689000	0.30133	0.318000	0.28184	-0.103000	0.10940	0.619000	0.30197	0.064000	0.15345	CTC	-	superfamily_SSF81321		0.428	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H12	protein_coding	OTTHUMT00000408402.1	C	NM_001013354		18448512	1	no_errors	NM_001013354.1	genbank	human	provisional	54_36p	missense	SNP	0.968	A	A	19378512	C	A	19378512	3	1	90	1	0	0	0	0	1	0	0	0	10927	681	24	4	921	4	OR11H12	14	19378512	Missense_Mutation	SNP	C	TCGA-AB-2897-03A-01W-0733-08		19378512	87971028	5	953											
SEPX1	6123	genome.wustl.edu	37	16	1991314	1991314	+	IGR	SNP	T	T	C			TCGA-AB-2897-03A-01W-0733-08	TCGA-AB-2897-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c5cf74cb-e85e-4c8e-867f-e31d71d24045	0ca12dcf-77b9-4ee1-9509-b7619271484c	g.chr16:1991314T>C	ENST00000268661.7	-	0	2182				MSRB1_ENST00000399753.2_Missense_Mutation_p.I50V|MSRB1_ENST00000564908.1_Missense_Mutation_p.I50V|MSRB1_ENST00000489198.1_5'UTR|MSRB1_ENST00000361871.3_Missense_Mutation_p.I50V	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						TCGGCGTGAATGGTCTCGGTG	0.622																																						dbGAP											0			16											52	54	54					16																	1991314		2051	4186	6237	1931315	SO:0001628	intergenic_variant	0			U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"L ribosomal proteins"	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685		16.37:g.1991314T>C		48	0	0		52	48	48	1931315	24	29.41	10		Missense_Mutation	SNP	HMMPfam_SelR,superfamily_Mss4_like	p.I50V	ENST00000268661.7	37	c.148	CCDS10450.1	16	.	.	.	.	.	.	.	.	.	.	T	8.648	0.897664	0.17686	.	.	ENSG00000198736	ENST00000361871;ENST00000399753	T;T	0.76578	-1.03;-1.03	4.74	4.74	0.60224	Mss4-like (1);Methionine sulphoxide reductase B (2);	0.053525	0.64402	D	0.000001	T	0.60366	0.2263	N	0.17594	0.5	0.37359	D	0.911159	B	0.09022	0.002	B	0.15870	0.014	T	0.59526	-0.7438	10	0.33940	T	0.23	-3.1815	7.9224	0.29854	0.0:0.0939:0.0:0.9061	.	50	Q9NZV6	MSRB1_HUMAN	V	50	ENSP00000355084:I50V;ENSP00000382657:I50V	ENSP00000355084:I50V	I	-	1	0	SEPX1	1931315	0.991000	0.36638	1.000000	0.80357	0.323000	0.28346	0.157000	0.16402	1.778000	0.52293	0.533000	0.62120	ATT	-	HMMPfam_SelR,superfamily_Mss4_like		0.622	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPX1	protein_coding	OTTHUMT00000250582.2	T	NM_005061		1931315	-1	no_errors	ENST00000399753	ensembl	human	known	54_36p	missense	SNP	1.000	C	C	1991314	T	C	1991314	1	2	90	0	1	0	0	0	0	0	0	0	14073	1464	51	3		3	SEPX1	16	1991314	IGR	SNP	T	TCGA-AB-2897-03A-01W-0733-08		1991314	88363439	6	954											
CALR	811	genome.wustl.edu	37	19	13050446	13050447	+	Splice_Site	INS	-	-	T			TCGA-AB-2897-03A-01W-0733-08	TCGA-AB-2897-11A-01W-0732-08	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c5cf74cb-e85e-4c8e-867f-e31d71d24045	0ca12dcf-77b9-4ee1-9509-b7619271484c	g.chr19:13050446_13050447insT	ENST00000316448.5	+	3	470		c.e3+1			NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	ATCATGTTTGGTGAGGGCCTGC	0.475																																						dbGAP											0			19																																								12911447	SO:0001630	splice_region_variant	0			M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"Sicca syndrome antigen A (autoantigen Ro; calreticulin)", "autoantigen Ro"	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.397+1->T	19.37:g.13050447_13050447dupT		110	0	0		4965	0.62	31	12911446	102	11.3	13	Q6IAT4|Q9UDG2	Splice_Site	INS	-	e3+1	ENST00000316448.5	37	c.397+1_397+1	CCDS12288.1	19																																																																																			-	-		0.475	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALR	protein_coding	OTTHUMT00000451952.1	-	NM_004343	Intron	12911447	1	no_errors	NM_004343.3	genbank	human	reviewed	54_36p	splice_site_ins	INS	1.000:1.000	T	T	13050447	-	T	13050446	8	5	90	1	0	1	1	0	0	0	1	0	2592	1275	44	0	408	0	CALR	19	13050446	Splice_Site	INS	-	TCGA-AB-2897-03A-01W-0733-08		13050446	46078537	7	955											
USP24	23358	genome.wustl.edu	37	1	55589119	55589119	+	Splice_Site	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr1:55589119C>T	ENST00000294383.6	-	36	4276		c.e36+1		USP24_ENST00000407756.1_Splice_Site	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTCCAGCATACCCAGTTGCTG	0.463																																						dbGAP											0			1											39	38	39					1																	55589119		1882	4109	5991	55361707	SO:0001630	splice_region_variant	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"Ubiquitin-specific peptidases"	12623	protein-coding gene	gene with protein product		610569	"ubiquitin specific protease 24"			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4276+1G>A	1.37:g.55589119C>T		97	2.02	2		1	96	96	55361707	170	44.16	136	Q6ZSY2|Q8N2Y4|Q9NXD1	Splice_Site	SNP	-	e33+1	ENST00000294383.6	37	c.3796+1	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799962	0.70567	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4963	0.90866	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP24	55361707	1.000000	0.71417	0.998000	0.56505	0.528000	0.34623	7.487000	0.81328	2.347000	0.79759	0.563000	0.77884	.	-	-		0.463	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	protein_coding	OTTHUMT00000022275.2	C		Intron	55361707	-1	no_errors	NM_015306.1	genbank	human	validated	54_36p	splice_site	SNP	1.000	T	T	55589119	C	T	55589119	5	4	91	1	0	0	0	0	0	0	1	0	17052	521	18	2	3717	2	USP24	1	55589119	Splice_Site	SNP	C	TCGA-AB-2898-03A-01W-0733-08		55589119	193661502	1	956											
DNMT3A	1788	genome.wustl.edu	37	2	25459803	25459803	+	Splice_Site	SNP	A	A	C			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr2:25459803A>C	ENST00000264709.3	-	21	2816		c.e21+1		DNMT3A_ENST00000402667.1_Splice_Site|DNMT3A_ENST00000474887.1_Intron|DNMT3A_ENST00000321117.5_Splice_Site|DNMT3A_ENST00000380746.4_Splice_Site	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha						C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGAGCTGACCTTGGCTAT	0.597			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											45	38	41					2																	25459803		2203	4300	6503	25313307	SO:0001630	splice_region_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2478+1T>G	2.37:g.25459803A>C		27	0	0		6	45.45	5	25313307	14	46.43	13	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Splice_Site	SNP	-	e20+2	ENST00000264709.3	37	c.2478+2	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.162665	0.78226	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0536	0.58967	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNMT3A	25313307	1.000000	0.71417	0.912000	0.35992	0.909000	0.53808	8.966000	0.93397	2.031000	0.59945	0.533000	0.62120	.	-	-		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	A	NM_022552	Intron	25313307	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	splice_site	SNP	0.998	C	C	25459803	A	C	25459803	5	2	91	1	0	0	0	0	0	0	1	0	4676	289	10	5	270	5	DNMT3A	2	25459803	Splice_Site	SNP	A	TCGA-AB-2898-03A-01W-0733-08		25459803	217739570	2	957											
DNMT3A	1788	genome.wustl.edu	37	2	25462032	25462032	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr2:25462032C>T	ENST00000264709.3	-	20	2712	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R569H|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R792H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R603H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	792	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R603H(1)|p.R792H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGAAGTAGCGGGCCCTGTG	0.557			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	2	Substitution - Missense(2)	lung(2)	2											68	61	64					2																	25462032		2203	4300	6503	25315536	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2375G>A	2.37:g.25462032C>T	ENSP00000264709:p.Arg792His	26	0	0		20	69.7	46	25315536	26	42.22	19	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R792H	ENST00000264709.3	37	c.2375	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.533263	0.96460	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.99557	-6.16;-6.16;-6.16;-6.16	5.64	5.64	0.86602	.	0.046266	0.85682	D	0.000000	D	0.99339	0.9768	M	0.88181	2.935	0.80722	D	1	D;B	0.65815	0.995;0.097	P;B	0.46275	0.51;0.004	D	0.99712	1.1007	10	0.62326	D	0.03	-8.3274	17.206	0.86918	0.0:1.0:0.0:0.0	.	792;603	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	603;792;792;569	ENSP00000370122:R603H;ENSP00000324375:R792H;ENSP00000264709:R792H;ENSP00000384237:R569H	ENSP00000264709:R792H	R	-	2	0	DNMT3A	25315536	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.681000	0.91329	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.557	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25315536	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25462032	C	T	25462032	3	4	91	1	0	0	0	0	1	0	0	0	4676	768	27	1	379	1	DNMT3A	2	25462032	Missense_Mutation	SNP	C	TCGA-AB-2898-03A-01W-0733-08	2229	25462032	217737341	3	958											
ASXL2	55252	genome.wustl.edu	37	2	25967233	25967234	+	Frame_Shift_Ins	INS	-	-	CT	rs569929404		TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	-	-	-	CT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr2:25967233_25967234insCT	ENST00000435504.4	-	13	2265_2266	c.1972_1973insAG	c.(1972-1974)gcafs	p.A658fs	ASXL2_ENST00000272341.4_Frame_Shift_Ins_p.A398fs|ASXL2_ENST00000404843.1_Frame_Shift_Ins_p.A398fs|ASXL2_ENST00000336112.4_Frame_Shift_Ins_p.A630fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	658	Ala-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGATGTCTGCAAGAGTTCTG	0.574																																						dbGAP											0			2																																								25820738	SO:0001589	frameshift_variant	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"additional sex combs like 2 (Drosophila)"			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1972_1973insAG	2.37:g.25967233_25967234insCT	ENSP00000391447:p.Ala658fs	319	0	0		13	23.53	4	25820737	68	36.45	39	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Ins	INS	NULL	p.A658fs	ENST00000435504.4	37	c.1973_1972		2																																																																																			-	NULL		0.574	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	protein_coding	OTTHUMT00000325593.3	-	NM_018263		25820738	-1	no_errors	NM_018263.4	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CT	CT	25967234	-	CT	25967233	7	5	91	1	0	1	1	0	0	0	0	0	1067	1319	46	0	2338	0	ASXL2	2	25967233	Frame_Shift_Ins	INS	-	TCGA-AB-2898-03A-01W-0733-08	505201	25967233	217232140	4	959											
EPAS1	2034	genome.wustl.edu	37	2	46602890	46602890	+	Silent	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr2:46602890C>T	ENST00000263734.3	+	8	1458	c.948C>T	c.(946-948)taC>taT	p.Y316Y		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	316	PAC.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ATGGGGGCTACGTGTGGCTGG	0.582																																						dbGAP											0			2											130	96	107					2																	46602890		2203	4300	6503	46456394	SO:0001819	synonymous_variant	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"Basic helix-loop-helix proteins"	3374	protein-coding gene	gene with protein product	"HIF-1 alpha-like factor"	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.948C>T	2.37:g.46602890C>T		126	1.56	2		8	0	0	46456394	64	47.54	58	Q86VA2|Q99630	Silent	SNP	HMMSmart_PAS,HMMPfam_HLH,HMMSmart_HLH,HMMSmart_PAC,superfamily_HLH_basic,HMMPfam_PAS_3,HMMPfam_HIF-1a_CTAD,superfamily_SSF55785	p.Y316	ENST00000263734.3	37	c.948	CCDS1825.1	2																																																																																			-	HMMSmart_PAC,HMMPfam_PAS_3,superfamily_SSF55785		0.582	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	protein_coding	OTTHUMT00000250752.2	C	NM_001430		46456394	1	no_errors	NM_001430.3	genbank	human	validated	54_36p	silent	SNP	0.901	T	T	46602890	C	T	46602890	2	4	91	1	0	0	0	0	0	0	0	1	5150	547	19	1		1	EPAS1	2	46602890	Silent	SNP	C	TCGA-AB-2898-03A-01W-0733-08	20635657	46602890	196596483	5	960											
PTPRN	5798	genome.wustl.edu	37	2	220166869	220166869	+	Silent	SNP	A	A	C			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr2:220166869A>C	ENST00000295718.2	-	6	1224	c.984T>G	c.(982-984)gcT>gcG	p.A328A	PTPRN_ENST00000423636.2_Silent_p.A238A|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Silent_p.A328A	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	328					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTGGCTGCACAGCTGGGGAAG	0.602																																						dbGAP											0			2											61	60	60					2																	220166869		2203	4300	6503	219875113	SO:0001819	synonymous_variant	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.984T>G	2.37:g.220166869A>C		98	0	0					219875113	127	41.1	90	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Silent	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II	p.A328	ENST00000295718.2	37	c.984	CCDS2440.1	2																																																																																			-	NULL		0.602	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	protein_coding	OTTHUMT00000256819.2	A			219875113	-1	no_errors	NM_002846.2	genbank	human	reviewed	54_36p	silent	SNP	0.007	C	C	220166869	A	C	220166869	2	2	91	1	0	0	0	0	0	0	0	1	12807	175	7	5		5	PTPRN	2	220166869	Silent	SNP	A	TCGA-AB-2898-03A-01W-0733-08	173563979	220166869	23032504	6	961											
ATP2C1	27032	genome.wustl.edu	37	3	130714936	130714936	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr3:130714936G>A	ENST00000510168.1	+	23	2657	c.2107G>A	c.(2107-2109)Gtt>Att	p.V703I	ATP2C1_ENST00000422190.2_Missense_Mutation_p.V703I|ATP2C1_ENST00000533801.2_Missense_Mutation_p.V698I|ATP2C1_ENST00000513801.1_Missense_Mutation_p.V687I|ATP2C1_ENST00000393221.4_Missense_Mutation_p.V737I|ATP2C1_ENST00000504381.1_Missense_Mutation_p.V648I|ATP2C1_ENST00000428331.2_Missense_Mutation_p.V703I|ATP2C1_ENST00000505330.1_Missense_Mutation_p.V687I|ATP2C1_ENST00000508532.1_Missense_Mutation_p.V703I|ATP2C1_ENST00000328560.8_Missense_Mutation_p.V703I|ATP2C1_ENST00000359644.3_Missense_Mutation_p.V703I|ATP2C1_ENST00000507488.2_Missense_Mutation_p.V687I|ATP2C1_ENST00000504948.1_Missense_Mutation_p.V687I			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	703					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TAAAAATTTCGTTAGATTCCA	0.303									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	dbGAP											0			3											87	101	96					3																	130714936		2203	4300	6503	132197626	SO:0001583	missense	0	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"ATPases / P-type"	13211	protein-coding gene	gene with protein product	"secretory pathway Ca2+/Mn2+ ATPase 1", "calcium-transporting ATPase type 2C member 1"	604384	"benign chronic pemphigus (Hailey-Hailey disease)"	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.2107G>A	3.37:g.130714936G>A	ENSP00000427461:p.Val703Ile	76	0	0		66	37.14	39	132197626	56	47.17	50	B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M	p.V703I	ENST00000510168.1	37	c.2107	CCDS46914.1	3	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983218	0.53827	.	.	ENSG00000017260	ENST00000505330;ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000510168;ENST00000508532;ENST00000504948;ENST00000513801;ENST00000328560;ENST00000428331;ENST00000359644;ENST00000422190;ENST00000347421	D;D;D;D;D;D;D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	5.75	5.75	0.90469	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.79435	0.4445	N	0.04820	-0.15	0.80722	D	1	D;P;B;P;B;P;P	0.54047	0.964;0.871;0.33;0.921;0.33;0.809;0.94	P;B;B;B;B;B;B	0.49953	0.627;0.33;0.089;0.38;0.153;0.275;0.285	T	0.76580	-0.2907	10	0.02654	T	1	.	19.9312	0.97120	0.0:0.0:1.0:0.0	.	737;698;737;703;737;703;703	G3XAH8;B4DSW3;B4E2Q0;P98194-5;B7Z3X9;P98194-2;P98194	.;.;.;.;.;.;AT2C1_HUMAN	I	687;648;687;737;698;703;703;687;687;703;703;703;703;702	ENSP00000423774:V687I;ENSP00000425320:V648I;ENSP00000421326:V687I;ENSP00000376914:V737I;ENSP00000432956:V698I;ENSP00000427461:V703I;ENSP00000424783:V703I;ENSP00000423330:V687I;ENSP00000422872:V687I;ENSP00000329664:V703I;ENSP00000395809:V703I;ENSP00000352665:V703I;ENSP00000402677:V703I	ENSP00000329664:V703I	V	+	1	0	ATP2C1	132197626	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.689000	0.98673	2.720000	0.93068	0.491000	0.48974	GTT	-	superfamily_Calcium ATPase transmembrane domain M		0.303	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATP2C1	protein_coding	OTTHUMT00000356648.2	G	NM_001001486		132197626	1	no_errors	NM_001001486.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	130714936	G	A	130714936	3	1	91	1	0	0	0	0	1	0	0	0	1143	1145	40	1	2193	1	ATP2C1	3	130714936	Missense_Mutation	SNP	G	TCGA-AB-2898-03A-01W-0733-08		130714936	67307494	7	962											
FAM193A	8603	genome.wustl.edu	37	4	2698284	2698284	+	Silent	SNP	G	G	A			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr4:2698284G>A	ENST00000324666.5	+	16	2949	c.2598G>A	c.(2596-2598)acG>acA	p.T866T	FAM193A_ENST00000502458.1_Silent_p.T888T|FAM193A_ENST00000545951.1_Silent_p.T866T|FAM193A_ENST00000505311.1_Silent_p.T866T|FAM193A_ENST00000382839.3_Silent_p.T866T	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	866										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TGAGCAGCACGCGTGCAGCGA	0.542																																						dbGAP											0			4											75	71	72					4																	2698284		2203	4300	6503	2668082	SO:0001819	synonymous_variant	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"chromosome 4 open reading frame 8"	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2598G>A	4.37:g.2698284G>A		91	0	0		26	29.73	11	2668082	89	43.31	68	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	NULL	p.T866	ENST00000324666.5	37	c.2598	CCDS58875.1	4																																																																																			-	NULL		0.542	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C4orf8	protein_coding	OTTHUMT00000360903.1	G	NM_003704		2668082	1	no_errors	NM_003704.3	genbank	human	validated	54_36p	silent	SNP	0.983	A	A	2698284	G	A	2698284	2	1	91	1	0	0	0	0	0	0	0	1	5524	1074	38	1		1	FAM193A	4	2698284	Silent	SNP	G	TCGA-AB-2898-03A-01W-0733-08		2698284	188455992	8	963											
CRISPLD1	83690	genome.wustl.edu	37	8	75929669	75929669	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr8:75929669G>A	ENST00000262207.4	+	10	1579	c.1111G>A	c.(1111-1113)Ggt>Agt	p.G371S	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G185S|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G183S	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	371	LCCL 1. {ECO:0000255|PROSITE- ProRule:PRU00123}.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAATAGAAATGGTATTCAAAC	0.323																																						dbGAP											0			8											114	123	120					8																	75929669		2203	4298	6501	76092224	SO:0001583	missense	0			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"LCCL domain containing cysteine-rich secretory protein 1"	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.1111G>A	8.37:g.75929669G>A	ENSP00000262207:p.Gly371Ser	64	0	0		7	56.25	9	76092224	38	62.38	63	B2RA60|B7Z929	Missense_Mutation	SNP	HMMSmart_SM00198,HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain,HMMPfam_SCP,superfamily_PR-1-like,PatternScan_CRISP_2	p.G371S	ENST00000262207.4	37	c.1111	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203050	0.58234	.	.	ENSG00000121005	ENST00000262207;ENST00000523524;ENST00000517786	D;D;D	0.91740	-2.9;-2.9;-2.9	5.29	5.29	0.74685	LCCL (5);	0.057288	0.64402	D	0.000001	D	0.96408	0.8828	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.926	D	0.96448	0.9332	10	0.66056	D	0.02	.	19.1314	0.93408	0.0:0.0:1.0:0.0	.	185;371	B7Z929;Q9H336	.;CRLD1_HUMAN	S	371;183;185	ENSP00000262207:G371S;ENSP00000430105:G183S;ENSP00000429746:G185S	ENSP00000262207:G371S	G	+	1	0	CRISPLD1	76092224	1.000000	0.71417	0.988000	0.46212	0.017000	0.09413	7.377000	0.79668	2.753000	0.94483	0.557000	0.71058	GGT	-	HMMPfam_LCCL,HMMSmart_SM00603,superfamily_LCCL domain		0.323	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	G	NM_031461		76092224	1	no_errors	NM_031461.4	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	75929669	G	A	75929669	3	1	91	1	0	0	0	0	1	0	0	0	3882	1348	47	2	1145	2	CRISPLD1	8	75929669	Missense_Mutation	SNP	G	TCGA-AB-2898-03A-01W-0733-08		75929669	70434353	9	964											
PCDH15	65217	genome.wustl.edu	37	10	55587268	55587268	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr10:55587268C>T	ENST00000320301.6	-	32	4646	c.4252G>A	c.(4252-4254)Gca>Aca	p.A1418T	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1418T|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1347T|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1029T|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1415T|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1418T|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1393T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1420T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1425T|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1378T|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1425T	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1418					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCGGGTAATGCGGCCTGAATT	0.532										HNSCC(58;0.16)																												dbGAP											0			10											81	85	84					10																	55587268		2203	4300	6503	55257274	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"Cadherins / Cadherin-related"	14674	protein-coding gene	gene with protein product	"cadherin-related family member 15"	605514	"deafness, autosomal recessive 23", "protocadherin 15"	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4252G>A	10.37:g.55587268C>T	ENSP00000322604:p.Ala1418Thr	62	0	0					55257274	22	50	22	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like	p.A1418T	ENST00000320301.6	37	c.4252	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057177	0.76074	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.67523	0.36;0.44;0.34;0.23;0.21;0.14;-0.06;0.17;-0.08;0.1;-0.27	5.17	4.27	0.50696	.	.	.	.	.	T	0.71626	0.3362	L	0.34521	1.04	0.58432	D	0.999997	P;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.95;0.998;0.973;0.996;1.0;0.998;0.972;0.995;0.986;0.986;0.999;0.999;0.985	P;P;P;P;D;P;P;P;P;P;P;P;P	0.71414	0.53;0.887;0.53;0.83;0.973;0.887;0.747;0.801;0.691;0.691;0.856;0.887;0.747	T	0.73748	-0.3885	9	0.56958	D	0.05	.	12.7244	0.57162	0.0:0.9211:0.0:0.0789	.	1393;1418;1418;1423;1347;1378;1415;1418;1425;1425;1418;1420;1418	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1425;1420;1418;1418;1029;1425;1378;1418;1393;1418;1415;1423;1347	ENSP00000363076:A1425T;ENSP00000410304:A1420T;ENSP00000378826:A1418T;ENSP00000386693:A1029T;ENSP00000378832:A1425T;ENSP00000378820:A1378T;ENSP00000354950:A1418T;ENSP00000378821:A1393T;ENSP00000322604:A1418T;ENSP00000378818:A1415T;ENSP00000412628:A1347T	ENSP00000322604:A1418T	A	-	1	0	PCDH15	55257274	1.000000	0.71417	0.060000	0.19600	0.466000	0.32739	5.173000	0.65010	1.497000	0.48584	0.561000	0.74099	GCA	-	NULL		0.532	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55257274	-1	no_errors	NM_033056.1	genbank	human	reviewed	54_36p	missense	SNP	0.977	T	T	55587268	C	T	55587268	3	4	91	1	0	0	0	0	1	0	0	0	11511	768	27	1	3242	1	PCDH15	10	55587268	Missense_Mutation	SNP	C	TCGA-AB-2898-03A-01W-0733-08		55587268	79947479	10	965											
TET1	80312	genome.wustl.edu	37	10	70405604	70405604	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr10:70405604C>T	ENST00000373644.4	+	4	3327	c.3118C>T	c.(3118-3120)Cca>Tca	p.P1040S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1040					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TCAGTTGCCACCAAGAAATAA	0.368																																						dbGAP											0			10											89	88	88					10																	70405604		2203	4300	6503	70075610	SO:0001583	missense	0			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"leukemia-associated protein with a CXXC domain", "ten-eleven translocation-1"	607790	"CXXC zinc finger 6", "tet oncogene 1"	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.3118C>T	10.37:g.70405604C>T	ENSP00000362748:p.Pro1040Ser	152	0	0		3	25	1	70075610	78	43.66	62	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	HMMPfam_zf-CXXC	p.P1040S	ENST00000373644.4	37	c.3118	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.459843	0.01062	.	.	ENSG00000138336	ENST00000373644	T	0.05649	3.41	5.4	-2.82	0.05787	.	3.201200	0.00777	N	0.001249	T	0.03390	0.0098	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.30909	-0.9962	10	0.02654	T	1	.	2.9932	0.05989	0.4868:0.2666:0.109:0.1376	.	1040	Q8NFU7	TET1_HUMAN	S	1040	ENSP00000362748:P1040S	ENSP00000362748:P1040S	P	+	1	0	TET1	70075610	0.000000	0.05858	0.000000	0.03702	0.193000	0.23685	-0.037000	0.12164	-0.619000	0.05648	0.563000	0.77884	CCA	-	NULL		0.368	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70075610	1	no_errors	NM_030625.2	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	70405604	C	T	70405604	3	4	91	1	0	0	0	0	1	0	0	0	15766	507	18	2	3128	2	TET1	10	70405604	Missense_Mutation	SNP	C	TCGA-AB-2898-03A-01W-0733-08	14818336	70405604	65129143	11	966											
MYO16	23026	genome.wustl.edu	37	13	109379889	109379889	+	Silent	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr13:109379889C>T	ENST00000357550.2	+	3	440	c.399C>T	c.(397-399)gcC>gcT	p.A133A	MYO16_ENST00000356711.2_Silent_p.A133A|MYO16_ENST00000251041.5_Silent_p.A133A	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TGCACATTGCCTGTGCCTGCG	0.423																																						dbGAP											0			13											201	177	185					13																	109379889		2203	4300	6503	108177890	SO:0001819	synonymous_variant	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"Myosins / Myosin superfamily : Class XVI", "Ankyrin repeat domain containing"	29822	protein-coding gene	gene with protein product	"neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3", "protein phosphatase 1, regulatory subunit 107"	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.399C>T	13.37:g.109379889C>T		284	0	0					108177890	84	43.79	67		Silent	SNP	HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A133	ENST00000357550.2	37	c.399	CCDS32008.1	13																																																																																			-	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat		0.423	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	C	NM_015011		108177890	1	no_errors	NM_015011.1	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	109379889	C	T	109379889	2	4	91	1	0	0	0	0	0	0	0	1	10064	668	24	2		2	MYO16	13	109379889	Silent	SNP	C	TCGA-AB-2898-03A-01W-0733-08		109379889	5789989	12	967											
MPI	4351	genome.wustl.edu	37	15	75185119	75185121	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	GAG	GAG	GAG	-	GAG	GAG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr15:75185119_75185121delGAG	ENST00000352410.4	+	4	530_532	c.463_465delGAG	c.(463-465)gagdel	p.E156del	MPI_ENST00000323744.6_In_Frame_Del_p.E156del|MPI_ENST00000564003.1_In_Frame_Del_p.E106del|MPI_ENST00000563786.1_In_Frame_Del_p.E136del|MPI_ENST00000565576.1_In_Frame_Del_p.E156del|MPI_ENST00000566377.1_In_Frame_Del_p.E156del|MPI_ENST00000535694.1_In_Frame_Del_p.E106del|MPI_ENST00000562606.1_In_Frame_Del_p.E136del|MPI_ENST00000563422.1_In_Frame_Del_p.E156del			P34949	MPI_HUMAN	mannose phosphate isomerase	156					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						CCGGCCAGTTGAGGAGATTGTAA	0.567																																						dbGAP											0			15																																								72972174	SO:0001651	inframe_deletion	0				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"mannose-6-phosphate isomerase"	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.463_465delGAG	15.37:g.75185122_75185124delGAG	ENSP00000318318:p.Glu156del	0	0	0		0	15	3	72972172	0	20.63	13	A8K8K9|Q96AB0	In_Frame_Del	DEL	HMMPfam_PMI_typeI,superfamily_RmlC-like cupins,PatternScan_PMI_I_1,PatternScan_PMI_I_2	p.E156in_frame_del	ENST00000352410.4	37	c.463_465	CCDS10272.1	15																																																																																			-	HMMPfam_PMI_typeI,superfamily_RmlC-like cupins		0.567	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPI	protein_coding	OTTHUMT00000286418.4	GAG			72972174	1	no_errors	NM_002435.1	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.983:0.998:1.000	-	-	75185121	GAG	-	75185119	7	5	91	1	0	1	0	1	0	0	0	0	9729	1291	45	0	477	0	MPI	15	75185119	In_Frame_Del	DEL	GAG	TCGA-AB-2898-03A-01W-0733-08		75185119	27346273	13	968											
ACAN	176	genome.wustl.edu	37	15	89401084	89401084	+	Silent	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr15:89401084C>T	ENST00000561243.1	+	11	5268	c.5268C>T	c.(5266-5268)agC>agT	p.S1756S	ACAN_ENST00000352105.7_Silent_p.S1756S|ACAN_ENST00000439576.2_Silent_p.S1756S|ACAN_ENST00000559004.1_Silent_p.S1756S			P16112	PGCA_HUMAN	aggrecan	1780	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)	p.S1642S(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGAGCTTAGCGGGCTGTCCT	0.493																																						dbGAP											2	Substitution - coding silent(2)	lung(2)	15											72	74	73					15																	89401084		1913	4117	6030	87202088	SO:0001819	synonymous_variant	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	319	protein-coding gene	gene with protein product	"aggrecan proteoglycan"	155760	"chondroitin sulfate proteoglycan 1", "aggrecan 1"	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.5268C>T	15.37:g.89401084C>T		36	2.7	1					87202088	29	38.3	18	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin	p.S1642	ENST00000561243.1	37	c.4926	CCDS53970.1	15																																																																																			-	NULL		0.493	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	C	NM_001135		87202088	1	no_errors	NM_013227.2	genbank	human	reviewed	54_36p	silent	SNP	0.969	T	T	89401084	C	T	89401084	2	4	91	1	0	0	0	0	0	0	0	1	117	767	27	1		1	ACAN	15	89401084	Silent	SNP	C	TCGA-AB-2898-03A-01W-0733-08	14215965	89401084	13130308	14	969											
IDH2	3418	genome.wustl.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					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.R172K(116)|p.R172M(21)|p.R172N(1)		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)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM																																	dbGAP		Dom	yes		15	15q26.1	3418	"socitrate dehydrogenase 2 (NADP+), mitochondrial "		M	138	Substitution - Missense(138)	haematopoietic_and_lymphoid_tissue(67)|central_nervous_system(65)|biliary_tract(6)	15											85	81	82					15																	90631838		2200	4298	6498	88432842	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.515G>A	15.37:g.90631838C>T	ENSP00000331897:p.Arg172Lys	78	0	0		80	50.31	81	88432842	43	42.11	32	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R172K	ENST00000330062.3	37	c.515	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957149	0.53293	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.86432	-2.12;-2.12;-2.12	5.93	4.07	0.47477	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	H	0.96889	3.9	0.49687	D	0.999812	D	0.89917	1.0	D	0.91635	0.999	D	0.95096	0.8226	10	0.87932	D	0	.	10.781	0.46377	0.0:0.8464:0.0:0.1536	.	172	P48735	IDHP_HUMAN	K	172;42;120	ENSP00000331897:R172K;ENSP00000438457:R42K;ENSP00000446147:R120K	ENSP00000331897:R172K	R	-	2	0	IDH2	88432842	1.000000	0.71417	0.025000	0.17156	0.001000	0.01503	7.797000	0.85911	0.862000	0.35528	-0.258000	0.10820	AGG	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.632	IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH2	protein_coding	OTTHUMT00000313426.1	C			88432842	-1	no_errors	NM_002168.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	90631838	C	T	90631838	3	4	91	1	0	0	0	0	1	0	0	0	7495	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-AB-2898-03A-01W-0733-08	1230754	90631838	11899554	15	970											
CUEDC1	404093	genome.wustl.edu	37	17	55962593	55962593	+	Silent	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr17:55962593C>T	ENST00000577830.1	-	2	746	c.333G>A	c.(331-333)ccG>ccA	p.P111P	CUEDC1_ENST00000407144.2_Silent_p.P111P|CUEDC1_ENST00000360238.2_Silent_p.P111P|CUEDC1_ENST00000577840.1_Intron	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	111	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCCCTACCTCCGGGGGGATGC	0.662																																						dbGAP											0			17											38	44	42					17																	55962593		2184	4257	6441	53317592	SO:0001819	synonymous_variant	0			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.333G>A	17.37:g.55962593C>T		18	0	0		7	30	3	53317592	32	34.69	17	D3DTZ2|Q9NWD0	Silent	SNP	HMMPfam_CUE,HMMSmart_SM00546,superfamily_UBA-like	p.P111	ENST00000577830.1	37	c.333	CCDS11599.1	17																																																																																			-	NULL		0.662	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC1	protein_coding	OTTHUMT00000443305.1	C	NM_017949		53317592	-1	no_errors	NM_017949.1	genbank	human	provisional	54_36p	silent	SNP	0.274	T	T	55962593	C	T	55962593	2	4	91	1	0	0	0	0	0	0	0	1	4052	639	23	1		1	CUEDC1	17	55962593	Silent	SNP	C	TCGA-AB-2898-03A-01W-0733-08		55962593	25232617	16	971											
MEGF8	1954	genome.wustl.edu	37	19	42873053	42873053	+	Silent	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr19:42873053C>T	ENST00000251268.6	+	37	6540	c.6540C>T	c.(6538-6540)gaC>gaT	p.D2180D	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.D2113D	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2180	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCTGAGGACGAGTGTGCAA	0.612																																						dbGAP											0			19											85	91	89					19																	42873053		2203	4300	6503	47564893	SO:0001819	synonymous_variant	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"HBV pre s2 binding protein 1"	604267	"EGF-like-domain, multiple 4", "chromosome 19 open reading frame 49"	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6540C>T	19.37:g.42873053C>T		84	0	0		12	33.33	6	47564893	15	48.28	14	A8KAY0|O75097	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_CUB,superfamily_CUB,HMMSmart_EGF_CA,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_PSI,HMMSmart_PSI,HMMSmart_EGF,HMMPfam_Kelch_1,superfamily_Gal_oxid_central,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_SSF57196	p.D2113	ENST00000251268.6	37	c.6339		19																																																																																			-	NULL		0.612	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	protein_coding	OTTHUMT00000463854.1	C	NM_001410		47564893	1	no_errors	NM_001410.2	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	42873053	C	T	42873053	2	4	91	1	0	0	0	0	0	0	0	1	9463	535	19	1		1	MEGF8	19	42873053	Silent	SNP	C	TCGA-AB-2898-03A-01W-0733-08		42873053	16255930	17	972											
SEL1L2	80343	genome.wustl.edu	37	20	13858170	13858170	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr20:13858170C>T	ENST00000284951.5	-	11	1096	c.1022G>A	c.(1021-1023)gGa>gAa	p.G341E	SEL1L2_ENST00000378072.5_Missense_Mutation_p.G341E|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	341						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATGTACCTTTCCTATAAATGC	0.408																																						dbGAP											0			20											95	89	91					20																	13858170		1853	4091	5944	13806170	SO:0001583	missense	0			AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"chromosome 20 open reading frame 50"	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1022G>A	20.37:g.13858170C>T	ENSP00000284951:p.Gly341Glu	143	0	0					13806170	81	49.38	79	B4DXX5	Missense_Mutation	SNP	HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901	p.G341E	ENST00000284951.5	37	c.1022		20	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156739	0.78114	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.58940	0.3;0.3	5.32	5.32	0.75619	Tetratricopeptide-like helical (1);	0.000000	0.56097	D	0.000021	D	0.83156	0.5193	H	0.96269	3.795	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88051	0.2787	10	0.87932	D	0	-14.9364	14.8541	0.70323	0.0:1.0:0.0:0.0	.	341;341	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	E	341	ENSP00000367312:G341E;ENSP00000284951:G341E	ENSP00000284951:G341E	G	-	2	0	SEL1L2	13806170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.345000	0.65987	2.648000	0.89879	0.655000	0.94253	GGA	-	HMMPfam_Sel1,HMMSmart_SEL1,superfamily_SSF81901		0.408	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	protein_coding	OTTHUMT00000078067.3	C	NM_025229		13806170	-1	no_errors	NM_025229.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	13858170	C	T	13858170	3	4	91	1	0	0	0	0	1	0	0	0	14011	855	30	2	1084	2	SEL1L2	20	13858170	Missense_Mutation	SNP	C	TCGA-AB-2898-03A-01W-0733-08		13858170	49167350	18	973											
DOPEY2	9980	genome.wustl.edu	37	21	37600135	37600135	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2898-03A-01W-0733-08	TCGA-AB-2898-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cebc6078-57bf-4866-a96d-a9e4fdaaf44d	e0e506a6-aeda-49ac-9ce5-46792b9b8c25	g.chr21:37600135C>A	ENST00000399151.3	+	13	1710	c.1625C>A	c.(1624-1626)cCt>cAt	p.P542H		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	542					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCCAGATGCCTCCTTCCTAC	0.547																																						dbGAP											0			21											74	57	62					21																	37600135		2203	4300	6503	36522005	SO:0001583	missense	0			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"chromosome 21 open reading frame 5"	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.1625C>A	21.37:g.37600135C>A	ENSP00000382104:p.Pro542His	126	0	0		18	45.45	15	36522005	40	41.18	28	D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	HMMPfam_Dopey_N	p.P542H	ENST00000399151.3	37	c.1625	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873924	0.91664	.	.	ENSG00000142197	ENST00000399151	T	0.16743	2.32	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.44808	0.1311	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	T	0.17684	-1.0361	10	0.87932	D	0	-24.1069	20.5596	0.99324	0.0:1.0:0.0:0.0	.	542;542	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	H	542	ENSP00000382104:P542H	ENSP00000382104:P542H	P	+	2	0	DOPEY2	36522005	1.000000	0.71417	0.971000	0.41717	0.827000	0.46813	7.395000	0.79876	2.868000	0.98415	0.555000	0.69702	CCT	-	NULL		0.547	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	protein_coding	OTTHUMT00000194636.1	C	NM_005128		36522005	1	no_errors	NM_005128.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	37600135	C	A	37600135	3	1	91	1	0	0	0	0	1	0	0	0	4708	681	24	4	1671	4	DOPEY2	21	37600135	Missense_Mutation	SNP	C	TCGA-AB-2898-03A-01W-0733-08		37600135	10529760	19	974											
SPEG	10290	genome.wustl.edu	37	2	220344734	220344734	+	Silent	SNP	G	G	C			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr2:220344734G>C	ENST00000312358.7	+	25	5346	c.5214G>C	c.(5212-5214)cgG>cgC	p.R1738R	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1738	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGCAGGTGCGGATCTGTGACT	0.577																																						dbGAP											0			2											72	81	78					2																	220344734		2167	4267	6434	220052978	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"Immunoglobulin superfamily / I-set domain containing"	16901	protein-coding gene	gene with protein product		615950	"aortic preferentially expressed gene 1"	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5214G>C	2.37:g.220344734G>C		134	1.47	2					220052978	36	49.3	35	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_ST,superfamily_Fibronectin type III,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_Immunoglobulin	p.R1738	ENST00000312358.7	37	c.5214	CCDS42824.1	2																																																																																			-	HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.577	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	G	NM_005876		220052978	1	no_errors	NM_005876.4	genbank	human	validated	54_36p	silent	SNP	0.999	C	C	220344734	G	C	220344734	2	2	92	1	0	0	0	0	0	0	0	1	15035	1161	41	4		4	SPEG	2	220344734	Silent	SNP	G	TCGA-AB-2899-03A-01W-0733-08		220344734	22854639	1	975											
SLC2A9	56606	genome.wustl.edu	37	4	9998563	9998563	+	Silent	SNP	G	G	A			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr4:9998563G>A	ENST00000264784.3	-	3	305	c.252C>T	c.(250-252)taC>taT	p.Y84Y	SLC2A9_ENST00000506583.1_Silent_p.Y55Y|SLC2A9_ENST00000309065.3_Silent_p.Y55Y	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	84					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	AGGCCTTGATGTACTGAAAAT	0.423																																						dbGAP											0			4											132	124	126					4																	9998563		2203	4300	6503	9607661	SO:0001819	synonymous_variant	0			AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"Solute carriers"	13446	protein-coding gene	gene with protein product	"urate voltage-driven efflux transporter 1"	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.252C>T	4.37:g.9998563G>A		121	4.69	6		7	30	3	9607661	55	37.5	33	Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	HMMPfam_Sugar_tr,PatternScan_SUGAR_TRANSPORT_1,PatternScan_SUGAR_TRANSPORT_2,superfamily_MFS general substrate transporter	p.Y84	ENST00000264784.3	37	c.252	CCDS3407.1	4																																																																																			-	HMMPfam_Sugar_tr,superfamily_MFS general substrate transporter		0.423	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC2A9	protein_coding	OTTHUMT00000207055.1	G			9607661	-1	no_errors	NM_020041.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	9998563	G	A	9998563	2	1	92	1	0	0	0	0	0	0	0	1	14552	1372	48	2		2	SLC2A9	4	9998563	Silent	SNP	G	TCGA-AB-2899-03A-01W-0733-08		9998563	181155713	2	976											
C7	730	genome.wustl.edu	37	5	40981538	40981540	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	GAA	GAA	GAA	-	GAA	GAA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr5:40981538_40981540delGAA	ENST00000313164.9	+	18	2754_2756	c.2395_2397delGAA	c.(2395-2397)gaadel	p.E800del		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	800	Factor I module (FIM) 2.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				GGAGTGCGAGGAAGAAGGGTTTA	0.522																																						dbGAP											0			5																																								41017297	SO:0001651	inframe_deletion	0			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"Complement system"	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.2395_2397delGAA	5.37:g.40981541_40981543delGAA	ENSP00000322061:p.Glu800del	0	6.74	6		0	0	0	41017295	0	33.04	38	Q6P3T5|Q92489	In_Frame_Del	DEL	HMMPfam_Sushi,HMMSmart_CCP,HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMPfam_MACPF,HMMSmart_MACPF,PatternScan_MAC_PERFORIN,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,HMMSmart_FIMAC,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Complement_control_module,superfamily_SSF57196	p.E800in_frame_del	ENST00000313164.9	37	c.2395_2397	CCDS47201.1	5																																																																																			-	HMMSmart_FIMAC		0.522	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	protein_coding	OTTHUMT00000317680.1	GAA			41017297	1	no_errors	NM_000587.2	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.054:0.080:0.095	-	-	40981540	GAA	-	40981538	7	5	92	1	0	1	0	1	0	0	0	0	2375	1175	41	0	2465	0	C7	5	40981538	In_Frame_Del	DEL	GAA	TCGA-AB-2899-03A-01W-0733-08		40981538	139933722	3	977											
DUSP1	1843	genome.wustl.edu	37	5	172195817	172195817	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr5:172195817T>C	ENST00000239223.3	-	4	1294	c.1052A>G	c.(1051-1053)aAc>aGc	p.N351S	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	351	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		CAGCGCACTGTTCGTGGAGTG	0.622																																						dbGAP											0			5											104	99	100					5																	172195817		2203	4300	6503	172128423	SO:0001583	missense	0			X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1052A>G	5.37:g.172195817T>C	ENSP00000239223:p.Asn351Ser	45	2.17	1		434	46.23	374	172128423	46	45.88	39	D3DQL9|Q2V508	Missense_Mutation	SNP	HMMPfam_DSPc,HMMPfam_Rhodanese,HMMSmart_RHOD,superfamily_Rhodanese-like,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_DSPc,superfamily_SSF52799	p.N351S	ENST00000239223.3	37	c.1052	CCDS4380.1	5	.	.	.	.	.	.	.	.	.	.	T	6.682	0.494467	0.12702	.	.	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02015	4.5	5.22	3.97	0.46021	.	0.231431	0.44902	D	0.000408	T	0.00724	0.0024	N	0.00347	-1.61	0.31405	N	0.676235	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.29518	-1.0009	10	0.07030	T	0.85	.	11.7463	0.51821	0.0:0.0:0.2293:0.7706	.	351;308	P28562;B4DNT2	DUS1_HUMAN;.	S	351;324;286	ENSP00000239223:N351S	ENSP00000239223:N351S	N	-	2	0	DUSP1	172128423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.912000	0.69948	2.087000	0.62958	0.533000	0.62120	AAC	-	NULL		0.622	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP1	protein_coding	OTTHUMT00000252943.3	T	NM_004417		172128423	-1	no_errors	NM_004417.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	C	C	172195817	T	C	172195817	3	2	92	1	0	0	0	0	1	0	0	0	4809	1725	60	3	55	3	DUSP1	5	172195817	Missense_Mutation	SNP	T	TCGA-AB-2899-03A-01W-0733-08	131214279	172195817	8719443	4	978											
OPN5	221391	genome.wustl.edu	37	6	47776045	47776045	+	Silent	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr6:47776045C>T	ENST00000371211.2	+	5	940	c.912C>T	c.(910-912)atC>atT	p.I304I	OPN5_ENST00000489301.2_Silent_p.I304I|OPN5_ENST00000393699.2_Silent_p.I304I|OPN5_ENST00000244799.4_3'UTR	NM_181744.3	NP_859528.1	Q6U736	OPN5_HUMAN	opsin 5	304					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						ACAATCCCATCATTTACCAAG	0.443																																					Melanoma(28;740 973 10870 42660 45347)	dbGAP											0			6											191	181	185					6																	47776045		2203	4300	6503	47884004	SO:0001819	synonymous_variant	0			AY288419	CCDS4923.1	6p12.3	2012-08-08	2004-01-23		ENSG00000124818	ENSG00000124818		"GPCR / Class A : Opsin receptors"	19992	protein-coding gene	gene with protein product	"neuropsin"	609042	"transmembrane protein 13"	TMEM13		14623103, 14623098	Standard	NR_033806		Approved	neuropsin, dJ402H5.1	uc003ozc.3	Q6U736	OTTHUMG00000014803	ENST00000371211.2:c.912C>T	6.37:g.47776045C>T		86	2.27	2					47884004	46	32.35	22	A0AV33|Q5T5B9|Q5T886|Q7Z603|Q86SL5	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_OPSIN,superfamily_SSF81321	p.I304	ENST00000371211.2	37	c.912	CCDS4923.1	6																																																																																			-	HMMPfam_7tm_1,PatternScan_OPSIN,superfamily_SSF81321		0.443	OPN5-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPN5	protein_coding	OTTHUMT00000359451.1	C	NM_181744		47884004	1	no_errors	NM_181744.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	47776045	C	T	47776045	2	4	92	1	0	0	0	0	0	0	0	1	10883	816	29	2		2	OPN5	6	47776045	Silent	SNP	C	TCGA-AB-2899-03A-01W-0733-08		47776045	123339022	5	979											
IMMP2L	83943	genome.wustl.edu	37	7	110526705	110526705	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr7:110526705T>C	ENST00000405709.2	-	5	794	c.352A>G	c.(352-354)Atc>Gtc	p.I118V	IMMP2L_ENST00000331762.3_Missense_Mutation_p.I118V|IMMP2L_ENST00000452895.1_Missense_Mutation_p.I118V|IMMP2L_ENST00000450877.1_Missense_Mutation_p.I100V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Missense_Mutation_p.I118V	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	118					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		TCAACCCAGATGTGACCACGG	0.398																																						dbGAP											0			7											142	129	134					7																	110526705		2203	4300	6503	110313941	SO:0001583	missense	0			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)", "IMMP2L intronic transcript 1 (non-protein coding)"	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.352A>G	7.37:g.110526705T>C	ENSP00000384966:p.Ile118Val	59	0	0		6	25	2	110313941	54	29.87	23	Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Missense_Mutation	SNP	superfamily_LexA/Signal peptidase,PatternScan_SPASE_I_3,HMMPfam_Peptidase_S24,PatternScan_ATPASE_ALPHA_BETA	p.I118V	ENST00000405709.2	37	c.352	CCDS5753.1	7	.	.	.	.	.	.	.	.	.	.	T	14.09	2.431162	0.43122	.	.	ENSG00000184903	ENST00000405709;ENST00000331762;ENST00000452895;ENST00000450877;ENST00000415362	.	.	.	5.58	5.58	0.84498	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S26A, signal peptidase I, conserved site (1);	0.323184	0.37715	N	0.001965	T	0.32704	0.0838	N	0.03999	-0.3	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.31447	-0.9943	9	0.02654	T	1	-28.3975	15.7305	0.77800	0.0:0.0:0.0:1.0	.	118	Q96T52	IMP2L_HUMAN	V	118;118;118;100;118	.	ENSP00000329553:I118V	I	-	1	0	IMMP2L	110313941	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.555000	0.53727	2.121000	0.65114	0.397000	0.26171	ATC	-	superfamily_LexA/Signal peptidase,PatternScan_SPASE_I_3		0.398	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	protein_coding	OTTHUMT00000338109.4	T	NM_032549		110313941	-1	no_errors	NM_032549.2	genbank	human	provisional	54_36p	missense	SNP	1.000	C	C	110526705	T	C	110526705	3	2	92	1	0	0	0	0	1	0	0	0	7717	1464	51	3	183	3	IMMP2L	7	110526705	Missense_Mutation	SNP	T	TCGA-AB-2899-03A-01W-0733-08		110526705	48611958	6	980											
UBN2	254048	genome.wustl.edu	37	7	138969157	138969157	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr7:138969157A>G	ENST00000473989.3	+	15	3506	c.3506A>G	c.(3505-3507)aAt>aGt	p.N1169S	UBN2_ENST00000288561.8_Missense_Mutation_p.N1086S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1169	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTGCAATGAATGTACCTGCC	0.488																																						dbGAP											0			7											77	78	78					7																	138969157		1964	4160	6124	138619697	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3506A>G	7.37:g.138969157A>G	ENSP00000418648:p.Asn1169Ser	80	1.23	1		15	51.61	16	138619697	44	40.54	30	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	PatternScan_TUBULIN	p.N1086S	ENST00000473989.3	37	c.3257	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	A	11.65	1.702055	0.30232	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.31769	1.48;1.51	5.64	5.64	0.86602	.	0.062116	0.64402	D	0.000004	T	0.22166	0.0534	L	0.40543	1.245	0.39613	D	0.969916	P	0.34800	0.469	B	0.29862	0.108	T	0.06338	-1.0832	10	0.02654	T	1	-10.0556	16.1449	0.81559	1.0:0.0:0.0:0.0	.	1169	Q6ZU65	UBN2_HUMAN	S	1169;1086	ENSP00000418648:N1169S;ENSP00000288561:N1086S	ENSP00000288561:N1086S	N	+	2	0	UBN2	138619697	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.474000	0.53129	2.269000	0.75478	0.455000	0.32223	AAT	-	NULL		0.488	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	protein_coding	OTTHUMT00000349272.3	A	NM_173569		138619697	1	no_errors	NM_173569.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	138969157	A	G	138969157	3	3	92	1	0	0	0	0	1	0	0	0	16890	101	4	3	3564	3	UBN2	7	138969157	Missense_Mutation	SNP	A	TCGA-AB-2899-03A-01W-0733-08	28442452	138969157	20169506	7	981											
KCNH2	3757	genome.wustl.edu	37	7	150644006	150644006	+	Missense_Mutation	SNP	C	C	T	rs199473030		TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr7:150644006C>T	ENST00000262186.5	-	14	3690	c.3289G>A	c.(3289-3291)Gtc>Atc	p.V1097I	KCNH2_ENST00000392968.2_Missense_Mutation_p.V1001I|KCNH2_ENST00000330883.4_Missense_Mutation_p.V757I	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	1097					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGGGGGCTGACGGGCAACAGC	0.657													C|||	1	0.000199681	0	0.0014	5008	,	,		14303	0		0	False		,,,				2504	0				GBM(137;110 1844 13671 20123 45161)	dbGAP											0			7											58	56	56					7																	150644006		2203	4300	6503	150274939	SO:0001583	missense	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.3289G>A	7.37:g.150644006C>T	ENSP00000262186:p.Val1097Ile	25	0	0		0	100	2	150274939	23	39.47	15	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels	p.V1097I	ENST00000262186.5	37	c.3289	CCDS5910.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.16|12.16	1.854270|1.854270	0.32791|0.32791	.|.	.|.	ENSG00000055118|ENSG00000055118	ENST00000350328|ENST00000330883;ENST00000392968;ENST00000262186	.|D;D;D	.|0.98550	.|-4.71;-4.78;-4.99	4.12|4.12	3.24|3.24	0.37175|0.37175	.|.	.|0.918511	.|0.09135	.|N	.|0.843846	D|D	0.94384|0.94384	0.8194|0.8194	L|L	0.29908|0.29908	0.895|0.895	0.47905|0.47905	D|D	0.99954|0.99954	.|B;B;P	.|0.37398	.|0.043;0.0;0.593	.|B;B;B	.|0.25614	.|0.007;0.0;0.062	D|D	0.90380|0.90380	0.4387|0.4387	6|10	0.62326|0.39692	D|T	0.03|0.17	.|.	9.6756|9.6756	0.40039|0.40039	0.0:0.8968:0.0:0.1032|0.0:0.8968:0.0:0.1032	.|.	.|1001;1097;757	.|C4PFH9;Q12809;Q12809-2	.|.;KCNH2_HUMAN;.	H|I	373|757;1001;1097	.|ENSP00000328531:V757I;ENSP00000376695:V1001I;ENSP00000262186:V1097I	ENSP00000309393:R373H|ENSP00000262186:V1097I	R|V	-|-	2|1	0|0	KCNH2|KCNH2	150274939|150274939	0.008000|0.008000	0.16893|0.16893	0.785000|0.785000	0.31869|0.31869	0.695000|0.695000	0.40330|0.40330	0.775000|0.775000	0.26689|0.26689	1.098000|1.098000	0.41479|0.41479	0.484000|0.484000	0.47621|0.47621	CGT|GTC	-	NULL		0.657	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	protein_coding	OTTHUMT00000350741.2	C	NM_000238		150274939	-1	no_errors	NM_000238.2	genbank	human	reviewed	54_36p	missense	SNP	0.872	T	T	150644006	C	T	150644006	3	4	92	1	0	0	0	0	1	0	0	0	8032	536	19	1	198	1	KCNH2	7	150644006	Missense_Mutation	SNP	C	TCGA-AB-2899-03A-01W-0733-08	11674849	150644006	8494657	8	982											
OIT3	170392	genome.wustl.edu	37	10	74673224	74673224	+	Missense_Mutation	SNP	G	G	A	rs144779514		TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr10:74673224G>A	ENST00000334011.5	+	6	1167	c.949G>A	c.(949-951)Gat>Aat	p.D317N		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	317	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TACAGTGGTCGATGTAGGTTC	0.547																																					Colon(7;19 345 13446 17537)	dbGAP											0			10						G	ASN/ASP	0,4406		0,0,2203	98	80	86		949	4.1	0.3	10	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	OIT3	NM_152635.1	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	317/546	74673224	1,13005	2203	4300	6503	74343230	SO:0001583	missense	0				CCDS7318.1	10q22.2-q22.3	2004-04-21			ENSG00000138315	ENSG00000138315			29953	protein-coding gene	gene with protein product		609330				12975309, 12939600	Standard	NM_152635		Approved	LZP, FLJ39116	uc001jte.1	Q8WWZ8	OTTHUMG00000018444	ENST00000334011.5:c.949G>A	10.37:g.74673224G>A	ENSP00000333900:p.Asp317Asn	106	2.75	3					74343230	68	49.25	66	A0AVP3|Q8N1M8	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Zona_pellucida,HMMSmart_SM00241,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.D317N	ENST00000334011.5	37	c.949	CCDS7318.1	10	.	.	.	.	.	.	.	.	.	.	G	14.76	2.631867	0.46944	0.0	1.16E-4	ENSG00000138315	ENST00000334011;ENST00000415725	D	0.81821	-1.54	5.95	4.11	0.48088	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.303860	0.26903	N	0.021909	T	0.60702	0.2289	N	0.10874	0.06	0.29226	N	0.873629	B	0.11235	0.004	B	0.10450	0.005	T	0.50030	-0.8875	10	0.17832	T	0.49	-12.9222	8.8359	0.35113	0.2788:0.0:0.7212:0.0	.	317	Q8WWZ8	OIT3_HUMAN	N	317	ENSP00000333900:D317N	ENSP00000333900:D317N	D	+	1	0	OIT3	74343230	0.992000	0.36948	0.349000	0.25694	0.975000	0.68041	2.149000	0.42244	0.863000	0.35553	0.655000	0.94253	GAT	-	HMMPfam_Zona_pellucida,HMMSmart_SM00241		0.547	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OIT3	protein_coding	OTTHUMT00000048596.1	G	NM_152635		74343230	1	no_errors	NM_152635.1	genbank	human	provisional	54_36p	missense	SNP	0.436	A	A	74673224	G	A	74673224	3	1	92	1	0	0	0	0	1	0	0	0	10849	1058	37	1	971	1	OIT3	10	74673224	Missense_Mutation	SNP	G	TCGA-AB-2899-03A-01W-0733-08		74673224	60861523	9	983											
IKZF4	64375	genome.wustl.edu	37	12	56420653	56420653	+	Silent	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr12:56420653C>T	ENST00000262032.5	+	8	742	c.375C>T	c.(373-375)agC>agT	p.S125S	IKZF4_ENST00000547167.1_Silent_p.S125S|IKZF4_ENST00000547791.1_Silent_p.S80S|IKZF4_ENST00000431367.2_Silent_p.S23S|IKZF4_ENST00000548601.1_3'UTR|RP11-603J24.4_ENST00000551846.1_RNA			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	125					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGACGACAGCGTGATTGTGG	0.602																																						dbGAP											0			12											51	55	54					12																	56420653		2109	4234	6343	54706920	SO:0001819	synonymous_variant	0			AF230809	CCDS44917.1	12q13	2013-01-08	2006-08-25	2006-08-25		ENSG00000123411		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13179	protein-coding gene	gene with protein product		606239	"zinc finger protein, subfamily 1A, 4 (Eos)"	ZNFN1A4		10978333	Standard	NM_022465		Approved	Eos	uc001sjc.1	Q9H2S9		ENST00000262032.5:c.375C>T	12.37:g.56420653C>T		85	2.3	2		4	0	0	54706920	61	30.68	27	Q96JP3	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.S125	ENST00000262032.5	37	c.375	CCDS44917.1	12																																																																																			-	NULL		0.602	IKZF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF4	protein_coding	OTTHUMT00000407590.1	C	NM_022465		54706920	1	no_errors	NM_022465.3	genbank	human	validated	54_36p	silent	SNP	0.437	T	T	56420653	C	T	56420653	2	4	92	1	0	0	0	0	0	0	0	1	7617	767	27	1		1	IKZF4	12	56420653	Silent	SNP	C	TCGA-AB-2899-03A-01W-0733-08		56420653	77431242	10	984											
SLC7A7	9056	genome.wustl.edu	37	14	23242838	23242838	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr14:23242838C>T	ENST00000397532.3	-	10	2042	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	SLC7A7_ENST00000285850.7_Missense_Mutation_p.R506Q|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000554517.1_Missense_Mutation_p.R240Q|SLC7A7_ENST00000397529.2_Missense_Mutation_p.R506Q|SLC7A7_ENST00000555702.1_Missense_Mutation_p.R506Q|SLC7A7_ENST00000397528.4_Missense_Mutation_p.R506Q			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	506					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TTTGGGATCCCGTTGCTTGGG	0.478																																						dbGAP											0			14											151	125	134					14																	23242838		2203	4300	6503	22312678	SO:0001583	missense	0			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"Solute carriers"	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1517G>A	14.37:g.23242838C>T	ENSP00000380666:p.Arg506Gln	193	1.52	3		39	48.68	37	22312678	117	45.83	99	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Missense_Mutation	SNP	PatternScan_AMINO_ACID_PERMEASE_1,HMMPfam_AA_permease	p.R506Q	ENST00000397532.3	37	c.1517	CCDS9574.1	14	.	.	.	.	.	.	.	.	.	.	C	0.338	-0.952371	0.02285	.	.	ENSG00000155465	ENST00000285850;ENST00000555702;ENST00000397532;ENST00000404278;ENST00000397529;ENST00000397528;ENST00000554517	D;D;D;D;D;D	0.90844	-2.64;-2.64;-2.64;-2.64;-2.64;-2.74	5.52	-8.7	0.00851	.	4.168150	0.00424	N	0.000065	T	0.69024	0.3065	N	0.00926	-1.1	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.69910	-0.5017	10	0.06625	T	0.88	.	10.6569	0.45680	0.0:0.5827:0.1265:0.2908	.	506	Q9UM01	YLAT1_HUMAN	Q	506;506;506;479;506;506;240	ENSP00000285850:R506Q;ENSP00000451881:R506Q;ENSP00000380666:R506Q;ENSP00000380663:R506Q;ENSP00000380662:R506Q;ENSP00000452083:R240Q	ENSP00000285850:R506Q	R	-	2	0	SLC7A7	22312678	0.000000	0.05858	0.059000	0.19551	0.294000	0.27393	-1.031000	0.03578	-1.499000	0.01821	-1.008000	0.02478	CGG	-	NULL		0.478	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A7	protein_coding	OTTHUMT00000071636.3	C			22312678	-1	no_errors	NM_003982.1	genbank	human	reviewed	54_36p	missense	SNP	0.010	T	T	23242838	C	T	23242838	3	4	92	1	0	0	0	0	1	0	0	0	14703	652	23	1	22	1	SLC7A7	14	23242838	Missense_Mutation	SNP	C	TCGA-AB-2899-03A-01W-0733-08		23242838	84106702	11	985											
QRICH2	84074	genome.wustl.edu	37	17	74274238	74274238	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr17:74274238T>A	ENST00000262765.5	-	15	4630	c.4451A>T	c.(4450-4452)gAc>gTc	p.D1484V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1484										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGCGCCAGGTCACCCCGAGG	0.637																																						dbGAP											0			17											60	61	61					17																	74274238		2203	4300	6503	71785833	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4451A>T	17.37:g.74274238T>A	ENSP00000262765:p.Asp1484Val	127	0.76	1		4	20	1	71785833	20	28.57	8	A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.D1484V	ENST00000262765.5	37	c.4451	CCDS32741.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.29|19.29	3.799539|3.799539	0.70567|0.70567	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000262765|ENST00000532549	T|.	0.11495|.	2.77|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	.|.	.|.	.|.	.|.	T|T	0.63450|0.63450	0.2512|0.2512	M|M	0.65975|0.65975	2.015|2.015	0.43593|0.43593	D|D	0.995941|0.995941	D|.	0.89917|.	1.0|.	D|.	0.79108|.	0.992|.	T|T	0.63817|0.63817	-0.6551|-0.6551	9|5	0.62326|.	D|.	0.03|.	-17.886|-17.886	8.2756|8.2756	0.31871|0.31871	0.1764:0.0:0.0:0.8236|0.1764:0.0:0.0:0.8236	.|.	1484|.	Q9H0J4|.	QRIC2_HUMAN|.	V|S	1484|132	ENSP00000262765:D1484V|.	ENSP00000262765:D1484V|.	D|T	-|-	2|1	0|0	QRICH2|QRICH2	71785833|71785833	0.775000|0.775000	0.28604|0.28604	0.828000|0.828000	0.32881|0.32881	0.827000|0.827000	0.46813|0.46813	4.470000|4.470000	0.60175|0.60175	2.152000|2.152000	0.67230|0.67230	0.402000|0.402000	0.26972|0.26972	GAC|ACC	-	NULL		0.637	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	protein_coding	OTTHUMT00000395140.1	T	NM_032134		71785833	-1	no_errors	NM_032134.1	genbank	human	provisional	54_36p	missense	SNP	0.303	A	A	74274238	T	A	74274238	3	1	92	1	0	0	0	0	1	0	0	0	12880	1667	58	5	560	5	QRICH2	17	74274238	Missense_Mutation	SNP	T	TCGA-AB-2899-03A-01W-0733-08		74274238	6920972	12	986											
SETBP1	26040	genome.wustl.edu	37	18	42531913	42531913	+	Missense_Mutation	SNP	G	G	A	rs267607040		TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr18:42531913G>A	ENST00000282030.5	+	4	2904	c.2608G>A	c.(2608-2610)Ggc>Agc	p.G870S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	870			G -> D (in SGMFS). {ECO:0000269|PubMed:20436468, ECO:0000269|PubMed:23628959}.|G -> R (in AML). {ECO:0000269|PubMed:23889083}.|G -> S (in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other myeloid malignancies; results in higher protein levels; cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein). {ECO:0000269|PubMed:20436468, ECO:0000269|PubMed:23222956, ECO:0000269|PubMed:23628959, ECO:0000269|PubMed:23648668}.|G -> V (in myeloid malignancies). {ECO:0000269|PubMed:23628959}.			nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CAGCGACAGCGGCATTGGGAC	0.557									Schinzel-Giedion syndrome																													dbGAP											0			18											68	44	52					18																	42531913		2203	4300	6503	40785911	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2608G>A	18.37:g.42531913G>A	ENSP00000282030:p.Gly870Ser	81	5.81	5		15	55.88	19	40785911	60	43.4	46	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	HMMPfam_AT_hook,HMMSmart_AT_hook	p.G816S	ENST00000282030.5	37	c.2446	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186940	0.78789	.	.	ENSG00000152217	ENST00000282030	D	0.90504	-2.68	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.93374	0.7887	L	0.34521	1.04	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.93393	0.6753	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	870	Q9Y6X0	SETBP_HUMAN	S	870	ENSP00000282030:G870S	ENSP00000282030:G870S	G	+	1	0	SETBP1	40785911	1.000000	0.71417	0.987000	0.45799	0.879000	0.50718	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GGC	-	NULL		0.557	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	protein_coding	OTTHUMT00000255854.4	G	NM_001130110		40785911	1	no_errors	NM_015559.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	42531913	G	A	42531913	3	1	92	1	0	0	0	0	1	0	0	0	14129	1116	39	1	2811	1	SETBP1	18	42531913	Missense_Mutation	SNP	G	TCGA-AB-2899-03A-01W-0733-08		42531913	35545335	13	987											
RUNX1	861	genome.wustl.edu	37	21	36252878	36252878	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chr21:36252878T>C	ENST00000344691.4	-	2	1980	c.403A>G	c.(403-405)Agg>Ggg	p.R135G	RUNX1_ENST00000399240.1_Missense_Mutation_p.R135G|RUNX1_ENST00000325074.5_Missense_Mutation_p.R150G|RUNX1_ENST00000486278.2_Missense_Mutation_p.R138G|RUNX1_ENST00000358356.5_Missense_Mutation_p.R135G|RUNX1_ENST00000300305.3_Missense_Mutation_p.R162G|RUNX1_ENST00000437180.1_Missense_Mutation_p.R162G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	135	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.R162G(2)|p.N159fs*49(1)		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						CCGACAAACCTGAGGTCATTA	0.438			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	3	Substitution - Missense(2)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	21											120	106	111					21																	36252878		2203	4300	6503	35174748	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.403A>G	21.37:g.36252878T>C	ENSP00000340690:p.Arg135Gly	42	0	0		18	94.78	327	35174748	8	66.67	16	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.R162G	ENST00000344691.4	37	c.484	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083810	0.76642	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99711	-6.49;-6.49;-6.49;-6.49;-6.49;-6.49;-6.49;-6.49	5.31	5.31	0.75309	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	0.99629	0.9864	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.983;0.976;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.987;0.981;0.998;0.999;0.998	D	0.97837	1.0266	10	0.87932	D	0	-23.5262	11.5758	0.50860	0.0:0.0:0.2747:0.7253	.	162;135;135;138;162;150;135	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	G	135;162;162;150;135;138;135;150;138	ENSP00000340690:R135G;ENSP00000300305:R162G;ENSP00000409227:R162G;ENSP00000319459:R150G;ENSP00000382184:R135G;ENSP00000351123:R135G;ENSP00000382182:R150G;ENSP00000438019:R138G	ENSP00000300305:R162G	R	-	1	2	RUNX1	35174748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.266000	0.43320	2.143000	0.66587	0.533000	0.62120	AGG	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.438	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	T			35174748	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	36252878	T	C	36252878	3	2	92	1	0	0	0	0	1	0	0	0	13746	1579	55	3	1011	3	RUNX1	21	36252878	Missense_Mutation	SNP	T	TCGA-AB-2899-03A-01W-0733-08		36252878	11877017	14	988											
TCEAL6	158931	genome.wustl.edu	37	X	101396171	101396171	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chrX:101396171C>T	ENST00000372774.3	-	3	382	c.133G>A	c.(133-135)Gag>Aag	p.E45K	TCEAL6_ENST00000372773.1_Missense_Mutation_p.E45K	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	45	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						cgctttccctcgcattctgtc	0.542																																						dbGAP											0			X											134	104	114					X																	101396171		2203	4300	6503	101282827	SO:0001583	missense	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.133G>A	X.37:g.101396171C>T	ENSP00000361860:p.Glu45Lys	67	0	0					101282827	152	42.64	113	Q5H9J8	Missense_Mutation	SNP	HMMPfam_TFA	p.E45K	ENST00000372774.3	37	c.133	CCDS43978.1	X	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734152	0.30684	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.23552	1.9;1.9	2.65	-3.45	0.04781	.	1.247550	0.06211	U	0.685098	T	0.15739	0.0379	L	0.37850	1.14	0.09310	N	1	B	0.27117	0.168	B	0.16722	0.016	T	0.24621	-1.0155	10	0.18710	T	0.47	.	6.0303	0.19677	0.0:0.3373:0.4472:0.2155	.	45	Q6IPX3-2	.	K	45	ENSP00000361860:E45K;ENSP00000361859:E45K	ENSP00000361859:E45K	E	-	1	0	TCEAL6	101282827	0.000000	0.05858	0.000000	0.03702	0.531000	0.34715	-1.275000	0.02817	-1.149000	0.02843	0.468000	0.43344	GAG	-	HMMPfam_TFA		0.542	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	protein_coding	OTTHUMT00000057609.1	C	NM_001006938		101282827	-1	no_errors	NM_001006938.2	genbank	human	validated	54_36p	missense	SNP	0.010	T	T	101396171	C	T	101396171	3	4	92	1	0	0	0	0	1	0	0	0	15672	893	31	1	422	1	TCEAL6	23	101396171	Missense_Mutation	SNP	C	TCGA-AB-2899-03A-01W-0733-08		101396171	53874389	15	989											
ALG13	79868	genome.wustl.edu	37	X	111003073	111003073	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2899-03A-01W-0733-08	TCGA-AB-2899-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2c9108eb-c59a-4227-b650-56e61b3aa0ea	a29bd0de-862b-4b95-95a7-93b321a3e6ac	g.chrX:111003073C>T	ENST00000394780.3	+	27	3272	c.3260C>T	c.(3259-3261)cCg>cTg	p.P1087L	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.P904L	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	1087					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TCCTGCCTTCCGGTTGTGCCA	0.478																																						dbGAP											0			X											111	84	92					X																	111003073		1568	3582	5150	110889729	SO:0001583	missense	0			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"Tudor domain containing", "OTU domain containing"	30881	protein-coding gene	gene with protein product	"tudor domain containing 13", "N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"	300776	"glycosyltransferase 28 domain containing 1", "chromosome X open reading frame 45", "asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.3260C>T	X.37:g.111003073C>T	ENSP00000378260:p.Pro1087Leu	74	5.13	4		24	0	0	110889729	60	40	40	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	HMMPfam_OTU,HMMPfam_Glyco_tran_28_C,superfamily_SSF53756,superfamily_SSF54001,superfamily_SSF63748	p.P1087L	ENST00000394780.3	37	c.3260	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	c	12.24	1.878256	0.33162	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.59772	1.1;0.24	5.8	4.94	0.65067	.	0.135690	0.50627	D	0.000102	T	0.70518	0.3233	L	0.55481	1.735	0.09310	N	0.999994	D;P;D	0.89917	1.0;0.453;1.0	D;B;D	0.69824	0.947;0.048;0.966	T	0.65203	-0.6225	10	0.87932	D	0	-7.2744	13.8471	0.63474	0.0:0.924:0.0:0.076	.	1009;1087;904	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	L	904;1087;641	ENSP00000251943:P904L;ENSP00000378260:P1087L	ENSP00000251943:P904L	P	+	2	0	ALG13	110889729	1.000000	0.71417	0.247000	0.24249	0.016000	0.09150	5.278000	0.65592	1.214000	0.43395	0.597000	0.82753	CCG	-	NULL		0.478	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	protein_coding	OTTHUMT00000272895.1	C	NM_018466		110889729	1	no_errors	ENST00000394780	ensembl	human	known	54_36p	missense	SNP	0.057	T	T	111003073	C	T	111003073	3	4	92	1	0	0	0	0	1	0	0	0	515	652	23	1	3508	1	ALG13	23	111003073	Missense_Mutation	SNP	C	TCGA-AB-2899-03A-01W-0733-08	9606902	111003073	44267487	16	990											
SPEN	23013	genome.wustl.edu	37	1	16203089	16203089	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr1:16203089C>G	ENST00000375759.3	+	3	1001	c.797C>G	c.(796-798)aCa>aGa	p.T266R	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	266	Arg-rich.|Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTAGACCCACAAGGTCCCCT	0.527																																						dbGAP											0			1											44	42	43					1																	16203089		2200	4291	6491	16075676	SO:0001583	missense	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"RNA binding motif (RRM) containing"	17575	protein-coding gene	gene with protein product		613484	"SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)"			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.797C>G	1.37:g.16203089C>G	ENSP00000364912:p.Thr266Arg	59	1.67	1		12	65.71	23	16075676	61	44.25	50	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_SPOC,superfamily_SPOC-like,superfamily_SSF54928	p.T266R	ENST00000375759.3	37	c.797	CCDS164.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.78|15.78	2.935838|2.935838	0.52972|0.52972	.|.	.|.	ENSG00000065526|ENSG00000065526	ENST00000442985|ENST00000375759;ENST00000438066;ENST00000375753	.|T;T	.|0.32988	.|3.11;1.43	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|.	.|.	.|.	.|.	T|T	0.20941|0.20941	0.0504|0.0504	N|N	0.14661|0.14661	0.345|0.345	0.50467|0.50467	D|D	0.999872|0.999872	.|P	.|0.49961	.|0.93	.|P	.|0.44860	.|0.462	T|T	0.03296|0.03296	-1.1051|-1.1051	5|9	.|0.13853	.|T	.|0.58	-12.9867|-12.9867	14.2012|14.2012	0.65705|0.65705	0.0:0.9288:0.0:0.0712|0.0:0.9288:0.0:0.0712	.|.	.|266	.|Q96T58	.|MINT_HUMAN	E|R	7|266;225;225	.|ENSP00000364912:T266R;ENSP00000388021:T225R	.|ENSP00000364906:T225R	Q|T	+|+	1|2	0|0	SPEN|SPEN	16075676|16075676	0.736000|0.736000	0.28164|0.28164	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.547000|5.547000	0.67249|0.67249	2.744000|2.744000	0.94065|0.94065	0.563000|0.563000	0.77884|0.77884	CAA|ACA	-	NULL		0.527	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	protein_coding	OTTHUMT00000025993.1	C	NM_015001		16075676	1	no_errors	NM_015001.2	genbank	human	reviewed	54_36p	missense	SNP	0.920	G	G	16203089	C	G	16203089	3	3	93	1	0	0	0	0	1	0	0	0	15037	478	17	4	807	4	SPEN	1	16203089	Missense_Mutation	SNP	C	TCGA-AB-2900-03A-01W-0733-08		16203089	233047532	1	991											
KLHDC7A	127707	genome.wustl.edu	37	1	18809481	18809481	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr1:18809481C>T	ENST00000400664.1	+	1	2058	c.2006C>T	c.(2005-2007)aCg>aTg	p.T669M		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	669						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGACCGCACGGCCGAGATG	0.692																																						dbGAP											0			1											38	38	38					1																	18809481		2203	4300	6503	18682068	SO:0001583	missense	0			AK096072	CCDS185.2	1p36.13	2008-02-05			ENSG00000179023	ENSG00000179023			26791	protein-coding gene	gene with protein product							Standard	NM_152375		Approved	FLJ38753	uc001bax.3	Q5VTJ3	OTTHUMG00000002431	ENST00000400664.1:c.2006C>T	1.37:g.18809481C>T	ENSP00000383505:p.Thr669Met	11	0	0					18682068	35	28	14	Q8N8W6	Missense_Mutation	SNP	HMMPfam_Kelch_1,HMMSmart_Kelch,superfamily_Gal_oxid_central	p.T669M	ENST00000400664.1	37	c.2006	CCDS185.2	1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238136	0.79800	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.20069	2.1	4.68	4.68	0.58851	Kelch-type beta propeller (1);	0.063405	0.64402	D	0.000009	T	0.45397	0.1340	M	0.67953	2.075	0.51233	D	0.999912	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.47471	-0.9115	10	0.72032	D	0.01	.	16.1501	0.81611	0.0:1.0:0.0:0.0	.	606;669	A7E2V3;Q5VTJ3	.;KLD7A_HUMAN	M	669;606	ENSP00000383505:T669M	ENSP00000383505:T669M	T	+	2	0	KLHDC7A	18682068	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.941000	0.70195	2.123000	0.65237	0.561000	0.74099	ACG	-	superfamily_Gal_oxid_central		0.692	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7A	protein_coding	OTTHUMT00000006923.3	C	NM_152375		18682068	1	no_errors	NM_152375.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	18809481	C	T	18809481	3	4	93	1	0	0	0	0	1	0	0	0	8360	536	19	1	2008	1	KLHDC7A	1	18809481	Missense_Mutation	SNP	C	TCGA-AB-2900-03A-01W-0733-08	2606392	18809481	230441140	2	992											
NOTCH2	4853	genome.wustl.edu	37	1	120464979	120464979	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr1:120464979A>T	ENST00000256646.2	-	28	5312	c.5093T>A	c.(5092-5094)aTc>aAc	p.I1698N	NOTCH2_ENST00000493703.1_5'Flank	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1698					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTTGCCATGATTACCCCCAG	0.502			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome																													dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0			1											68	65	66					1																	120464979		2203	4300	6503	120266502	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"Ankyrin repeat domain containing"	7882	protein-coding gene	gene with protein product		600275	"Notch (Drosophila) homolog 2", "Notch homolog 2 (Drosophila)"			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5093T>A	1.37:g.120464979A>T	ENSP00000256646:p.Ile1698Asn	80	1.2	1		42	48.15	39	120266502	85	54.36	106	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Notch,HMMSmart_NL,superfamily_Notch_region,HMMSmart_EGF_CA,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK,HMMPfam_EGF,HMMSmart_EGF,HMMPfam_NOD,HMMPfam_NODP,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196	p.I1698N	ENST00000256646.2	37	c.5093	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.126629	0.77549	.	.	ENSG00000134250	ENST00000256646	D	0.82803	-1.65	5.65	5.65	0.86999	.	0.000000	0.38548	U	0.001658	T	0.80149	0.4570	L	0.59436	1.845	0.46521	D	0.99908	D	0.56521	0.976	P	0.47744	0.556	D	0.83818	0.0245	10	0.87932	D	0	.	15.3506	0.74380	1.0:0.0:0.0:0.0	.	1698	Q04721	NOTC2_HUMAN	N	1698	ENSP00000256646:I1698N	ENSP00000256646:I1698N	I	-	2	0	NOTCH2	120266502	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	9.287000	0.95975	2.279000	0.76181	0.533000	0.62120	ATC	-	NULL		0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	protein_coding	OTTHUMT00000033679.1	A	NM_024408		120266502	-1	no_errors	NM_024408.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	120464979	A	T	120464979	3	4	93	1	0	0	0	0	1	0	0	0	10548	333	12	5	2350	5	NOTCH2	1	120464979	Missense_Mutation	SNP	A	TCGA-AB-2900-03A-01W-0733-08	101655498	120464979	128785642	3	993											
GREB1	9687	genome.wustl.edu	37	2	11741046	11741046	+	Silent	SNP	C	C	T			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr2:11741046C>T	ENST00000381486.2	+	16	2754	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	GREB1_ENST00000234142.5_Silent_p.F818F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	818						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGACCTCCTTCCCGTATGCAC	0.587																																					Ovarian(39;850 945 2785 23371 33093)	dbGAP											0			2											135	143	140					2																	11741046		2147	4246	6393	11658497	SO:0001819	synonymous_variant	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"gene regulated by estrogen in breast cancer"	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2454C>T	2.37:g.11741046C>T		67	4.29	3					11658497	88	50	90	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	NULL	p.F818	ENST00000381486.2	37	c.2454	CCDS42655.1	2																																																																																			-	NULL		0.587	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	protein_coding	OTTHUMT00000280490.1	C	NM_014668		11658497	1	no_errors	NM_014668.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	11741046	C	T	11741046	2	4	93	1	0	0	0	0	0	0	0	1	6760	854	30	2		2	GREB1	2	11741046	Silent	SNP	C	TCGA-AB-2900-03A-01W-0733-08		11741046	231458327	4	994											
SCTR	6344	genome.wustl.edu	37	2	120204459	120204459	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr2:120204459C>T	ENST00000019103.5	-	11	1283	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	339					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CCTGGCCAGGCGCCTGGGGAC	0.602																																						dbGAP											0			2											58	62	60					2																	120204459		2203	4300	6503	119920929	SO:0001583	missense	0				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"GPCR / Class B : Glucagon receptors"	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.1016G>A	2.37:g.120204459C>T	ENSP00000019103:p.Arg339His	34	5.41	2					119920929	70	46.72	64	Q12961|Q13213|Q53T00	Missense_Mutation	SNP	HMMPfam_7tm_2,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like	p.R339H	ENST00000019103.5	37	c.1016	CCDS2127.1	2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230987	0.79688	.	.	ENSG00000080293	ENST00000019103	T	0.43688	0.94	5.34	5.34	0.76211	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000028	T	0.75155	0.3811	H	0.94264	3.515	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.82224	-0.0563	10	0.87932	D	0	.	18.2135	0.89878	0.0:1.0:0.0:0.0	.	339	P47872	SCTR_HUMAN	H	339	ENSP00000019103:R339H	ENSP00000019103:R339H	R	-	2	0	SCTR	119920929	0.998000	0.40836	0.968000	0.41197	0.289000	0.27227	3.896000	0.56266	2.776000	0.95493	0.655000	0.94253	CGC	-	HMMPfam_7tm_2,superfamily_Family A G protein-coupled receptor-like		0.602	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCTR	protein_coding	OTTHUMT00000254198.2	C			119920929	-1	no_errors	NM_002980.2	genbank	human	reviewed	54_36p	missense	SNP	0.995	T	T	120204459	C	T	120204459	3	4	93	1	0	0	0	0	1	0	0	0	13943	768	27	1	318	1	SCTR	2	120204459	Missense_Mutation	SNP	C	TCGA-AB-2900-03A-01W-0733-08	108463413	120204459	122994914	5	995											
EPGN	255324	genome.wustl.edu	37	4	75174834	75174834	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr4:75174834C>A	ENST00000413830.1	+	2	129	c.68C>A	c.(67-69)gCa>gAa	p.A23E	EPGN_ENST00000332112.4_Missense_Mutation_p.A23E|EPGN_ENST00000514968.1_Missense_Mutation_p.A23E|EPGN_ENST00000509145.1_Intron|EPGN_ENST00000505212.1_Missense_Mutation_p.A23E|EPGN_ENST00000503098.1_Missense_Mutation_p.A23E|EPGN_ENST00000502358.1_Missense_Mutation_p.A23E	NM_001270989.1	NP_001257918.1	Q6UW88	EPGN_HUMAN	epithelial mitogen	23					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			ACCGAAGAGGCAGCCGTGACT	0.423																																						dbGAP											0			4											132	130	131					4																	75174834		2203	4300	6503	75393698	SO:0001583	missense	0				CCDS59475.1, CCDS59476.1, CCDS59477.1, CCDS59478.1, CCDS59479.1	4q13.3	2012-12-07	2012-12-07						17470	protein-coding gene	gene with protein product			"epithelial mitogen homolog (mouse)"				Standard	NM_001270989		Approved	epigen, EPG, PRO9904, ALGV3072	uc003hic.2	Q6UW88		ENST00000413830.1:c.68C>A	4.37:g.75174834C>A	ENSP00000411898:p.Ala23Glu	82	4.65	4		0	100	1	75393698	92	48.63	89	A1BMM3|A1BMM4|A1BMM5|A1BMM6|A1BMM7|A1BMM8|A8K090	Missense_Mutation	SNP	HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_SSF57196	p.A23E	ENST00000413830.1	37	c.68	CCDS59478.1	4	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494173	0.64186	.	.	ENSG00000182585	ENST00000413830;ENST00000332112;ENST00000514968;ENST00000503098;ENST00000502358;ENST00000505212	T;T	0.23754	1.97;1.89	5.64	3.8	0.43715	.	0.431349	0.22798	N	0.055515	T	0.24547	0.0595	L	0.40543	1.245	0.09310	N	0.999999	B;B;B;P;P;B	0.47762	0.023;0.047;0.008;0.835;0.9;0.047	B;B;B;P;P;B	0.49999	0.016;0.027;0.018;0.628;0.628;0.027	T	0.06752	-1.0809	10	0.11485	T	0.65	-0.0694	8.0347	0.30486	0.0:0.7979:0.0:0.2021	.	23;23;23;23;23;23	Q6UW88;Q6UW88-3;Q6UW88-5;Q6UW88-4;Q6UW88-6;Q6UW88-2	EPGN_HUMAN;.;.;.;.;.	E	23	ENSP00000411898:A23E;ENSP00000330375:A23E	ENSP00000330375:A23E	A	+	2	0	EPGN	75393698	0.388000	0.25197	0.041000	0.18516	0.166000	0.22503	0.667000	0.25112	0.748000	0.32831	0.557000	0.71058	GCA	-	NULL		0.423	EPGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPGN	protein_coding	OTTHUMT00000362738.1	C	NM_001013442		75393698	1	no_errors	NM_001013442.1	genbank	human	provisional	54_36p	missense	SNP	0.236	A	A	75174834	C	A	75174834	3	1	93	1	0	0	0	0	1	0	0	0	5164	710	25	4	74	4	EPGN	4	75174834	Missense_Mutation	SNP	C	TCGA-AB-2900-03A-01W-0733-08		75174834	115979442	6	996											
HADH	3033	genome.wustl.edu	37	4	108948853	108948853	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr4:108948853G>T	ENST00000309522.3	+	6	795	c.646G>T	c.(646-648)Ggg>Tgg	p.G216W	HADH_ENST00000603302.1_Missense_Mutation_p.G216W|HADH_ENST00000403312.1_Missense_Mutation_p.G275W|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000454409.2_Missense_Mutation_p.G220W|HADH_ENST00000505878.1_Missense_Mutation_p.G220W	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	544					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		GGACACTCCTGGGTTTATTGT	0.453																																						dbGAP											0			4											93	89	91					4																	108948853		2203	4300	6503	109168302	SO:0001583	missense	0			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain", "hydroxyacyl-Coenzyme A dehydrogenase"	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.646G>T	4.37:g.108948853G>T	ENSP00000312288:p.Gly216Trp	127	7.86	11		42	50	42	109168302	218	48.5	210	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	HMMPfam_3HCDH,HMMPfam_3HCDH_N,PatternScan_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like,superfamily_NAD(P)-binding Rossmann-fold domains	p.G216W	ENST00000309522.3	37	c.646	CCDS3678.1	4	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722267	0.89298	.	.	ENSG00000138796	ENST00000403312;ENST00000309522;ENST00000505878;ENST00000454409	D;D;D	0.99816	-6.91;-6.91;-6.91	5.52	5.52	0.82312	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);3-hydroxyacyl-CoA dehydrogenase, conserved site (1);NAD(P)-binding domain (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.052745	0.85682	D	0.000000	D	0.99930	0.9968	H	0.99968	5.105	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95728	0.8772	10	0.87932	D	0	-21.813	19.0405	0.92997	0.0:0.0:1.0:0.0	.	275;220;216	Q16836-2;E9PF18;Q16836	.;.;HCDH_HUMAN	W	216;216;220;220	ENSP00000312288:G216W;ENSP00000425952:G220W;ENSP00000395167:G220W	ENSP00000312288:G216W	G	+	1	0	HADH	109168302	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	9.683000	0.98657	2.594000	0.87642	0.491000	0.48974	GGG	-	HMMPfam_3HCDH,PatternScan_3HCDH,superfamily_6-phosphogluconate dehydrogenase C-terminal domain-like		0.453	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HADH	protein_coding	OTTHUMT00000254750.2	G	NM_005327		109168302	1	no_errors	NM_005327.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	108948853	G	T	108948853	3	4	93	1	0	0	0	0	1	0	0	0	6942	1348	47	4	668	4	HADH	4	108948853	Missense_Mutation	SNP	G	TCGA-AB-2900-03A-01W-0733-08	33774019	108948853	82205423	7	997											
ANKRD55	79722	genome.wustl.edu	37	5	55455693	55455693	+	Silent	SNP	C	C	T			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr5:55455693C>T	ENST00000341048.4	-	6	601	c.450G>A	c.(448-450)tcG>tcA	p.S150S	ANKRD55_ENST00000504958.2_Silent_p.S150S|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000513241.2_Silent_p.S121S	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	150										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CGCTGATGTTCGACTGTTGCA	0.463																																						dbGAP											0			5											156	134	142					5																	55455693		2203	4300	6503	55491450	SO:0001819	synonymous_variant	0			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"Ankyrin repeat domain containing"	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.450G>A	5.37:g.55455693C>T		108	6.9	8		1	0	0	55491450	173	42.95	131	B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK	p.S150	ENST00000341048.4	37	c.450	CCDS34161.1	5																																																																																			-	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK		0.463	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD55	protein_coding	OTTHUMT00000368510.4	C	NM_024669		55491450	-1	no_errors	NM_024669.1	genbank	human	validated	54_36p	silent	SNP	0.807	T	T	55455693	C	T	55455693	2	4	93	1	0	0	0	0	0	0	0	1	681	871	31	1		1	ANKRD55	5	55455693	Silent	SNP	C	TCGA-AB-2900-03A-01W-0733-08		55455693	125459567	8	998											
PCDH1	5097	genome.wustl.edu	37	5	141244061	141244061	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr5:141244061A>G	ENST00000394536.3	-	3	1974	c.1835T>C	c.(1834-1836)tTt>tCt	p.F612S	PCDH1_ENST00000536585.1_Missense_Mutation_p.F590S|PCDH1_ENST00000287008.3_Missense_Mutation_p.F612S|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.F600S|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	612	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ACTCAGCATAAATTTGGGGTC	0.542																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0			5											83	76	79					5																	141244061		2203	4300	6503	141224245	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"Cadherins / Protocadherins : Non-clustered"	8655	protein-coding gene	gene with protein product		603626	"protocadherin 1 (cadherin-like 1)"			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1835T>C	5.37:g.141244061A>G	ENSP00000378043:p.Phe612Ser	201	4.67	10					141224245	257	42.58	195	Q8IUP2	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,HMMPfam_Protocadherin,superfamily_Cadherin,PatternScan_GREAB_2	p.F612S	ENST00000394536.3	37	c.1835	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	a	17.25	3.341385	0.60963	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27	5.76	5.76	0.90799	Cadherin (3);Cadherin-like (1);	0.000000	0.52532	D	0.000061	D	0.92886	0.7737	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95339	0.8436	10	0.87932	D	0	.	14.0375	0.64654	1.0:0.0:0.0:0.0	.	612;612	Q08174;Q08174-2	PCDH1_HUMAN;.	S	612;612;600;623;590	ENSP00000287008:F612S;ENSP00000378043:F612S;ENSP00000403497:F600S;ENSP00000350122:F623S;ENSP00000438825:F590S	ENSP00000287008:F612S	F	-	2	0	PCDH1	141224245	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.212000	0.71576	0.454000	0.30748	TTT	-	superfamily_Cadherin		0.542	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	protein_coding	OTTHUMT00000251862.1	A	NM_032420		141224245	-1	no_errors	NM_032420.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	141244061	A	G	141244061	3	3	93	1	0	0	0	0	1	0	0	0	11506	14	1	3	1974	3	PCDH1	5	141244061	Missense_Mutation	SNP	A	TCGA-AB-2900-03A-01W-0733-08	85788368	141244061	39671199	9	999											
GABRG2	2566	genome.wustl.edu	37	5	161576185	161576185	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr5:161576185G>T	ENST00000361925.4	+	8	1214	c.994G>T	c.(994-996)Gtc>Ttc	p.V332F	GABRG2_ENST00000356592.3_Missense_Mutation_p.V332F|GABRG2_ENST00000393933.4_Missense_Mutation_p.V237F|GABRG2_ENST00000414552.2_Missense_Mutation_p.V372F			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	332					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGTCTCCTATGTCACAGCGAT	0.473																																						dbGAP											0			5											260	209	226					5																	161576185		2203	4300	6503	161508763	SO:0001583	missense	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4087	protein-coding gene	gene with protein product	"GABA(A) receptor, gamma 2"	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.994G>T	5.37:g.161576185G>T	ENSP00000354651:p.Val332Phe	93	7	7					161508763	118	44.08	93	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL	p.V332F	ENST00000361925.4	37	c.994	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.398771	0.96030	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.88	5.88	0.94601	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.88241	2.94	0.80722	D	1	D;D;P	0.61080	0.989;0.958;0.949	D;D;D	0.69654	0.965;0.948;0.913	D	0.94781	0.7953	10	0.72032	D	0.01	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	372;332;332	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	F	332;372;332;237	ENSP00000349000:V332F;ENSP00000410732:V372F;ENSP00000354651:V332F;ENSP00000377510:V237F	ENSP00000349000:V332F	V	+	1	0	GABRG2	161508763	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.670000	0.74467	2.779000	0.95612	0.650000	0.86243	GTC	-	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	protein_coding	OTTHUMT00000252706.1	G			161508763	1	no_errors	NM_198904.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	161576185	G	T	161576185	3	4	93	1	0	0	0	0	1	0	0	0	6172	1377	48	4	1148	4	GABRG2	5	161576185	Missense_Mutation	SNP	G	TCGA-AB-2900-03A-01W-0733-08	20332124	161576185	19339075	10	1000											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CGCG			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	-	-	-	CGCG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr5:170837547_170837548insCGCG	ENST00000296930.5	+	11	1164_1165	c.863_864insCGCG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCGCG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CGCG	CGCG	170837548	-	CGCG	170837547	7	5	93	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2900-03A-01W-0733-08	9261362	170837547	10077713	11	1001											
GRIK2	2898	genome.wustl.edu	37	6	102069829	102069829	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr6:102069829A>G	ENST00000421544.1	+	2	611	c.121A>G	c.(121-123)Att>Gtt	p.I41V	GRIK2_ENST00000369137.3_Missense_Mutation_p.I41V|GRIK2_ENST00000369138.1_Missense_Mutation_p.I41V|GRIK2_ENST00000369134.4_5'UTR|GRIK2_ENST00000413795.1_Missense_Mutation_p.I41V|GRIK2_ENST00000358361.3_Missense_Mutation_p.I41V|GRIK2_ENST00000318991.6_Missense_Mutation_p.I41V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	41					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCCAGGTGGTATTTTTGAATA	0.318																																						dbGAP											0			6											53	51	52					6																	102069829		2203	4300	6503	102176522	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.121A>G	6.37:g.102069829A>G	ENSP00000397026:p.Ile41Val	87	2.22	2					102176522	139	40.91	99	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II	p.I41V	ENST00000421544.1	37	c.121	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	A	21.9	4.220456	0.79464	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000358361;ENST00000369137;ENST00000318991;ENST00000403289;ENST00000540076	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	N	0.19112	0.55	0.80722	D	1	D;D;D	0.62365	0.991;0.984;0.991	D;D;D	0.81914	0.995;0.989;0.995	T	0.13629	-1.0502	10	0.87932	D	0	.	15.9069	0.79436	1.0:0.0:0.0:0.0	.	41;41;41	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	41;41;41;41;41;41;41;3	ENSP00000397026:I41V;ENSP00000405596:I41V;ENSP00000358134:I41V;ENSP00000351128:I41V;ENSP00000358133:I41V;ENSP00000313276:I41V	ENSP00000313276:I41V	I	+	1	0	GRIK2	102176522	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.339000	0.96797	2.147000	0.66899	0.533000	0.62120	ATT	-	superfamily_Periplasmic binding protein-like I		0.318	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	protein_coding	OTTHUMT00000043718.1	A			102176522	1	no_errors	NM_021956.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	102069829	A	G	102069829	3	3	93	1	0	0	0	0	1	0	0	0	6774	449	16	3	127	3	GRIK2	6	102069829	Missense_Mutation	SNP	A	TCGA-AB-2900-03A-01W-0733-08		102069829	69045238	12	1002											
KCNT1	57582	genome.wustl.edu	37	9	138642020	138642020	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr9:138642020T>A	ENST00000263604.3	+	3	274	c.274T>A	c.(274-276)Tcg>Acg	p.S92T	KCNT1_ENST00000487664.1_Missense_Mutation_p.S63T|KCNT1_ENST00000298480.5_Missense_Mutation_p.S111T|KCNT1_ENST00000371757.2_Missense_Mutation_p.S111T|KCNT1_ENST00000488444.2_Missense_Mutation_p.S92T|KCNT1_ENST00000486577.2_Missense_Mutation_p.S72T|KCNT1_ENST00000490355.2_Missense_Mutation_p.S92T|KCNT1_ENST00000491806.2_Missense_Mutation_p.S78T			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	92					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AAACCAAAGATCGAGTGAGTG	0.602																																						dbGAP											0			9											63	54	57					9																	138642020		2203	4300	6503	137781841	SO:0001583	missense	0			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.274T>A	9.37:g.138642020T>A	ENSP00000263604:p.Ser92Thr	49	3.85	2					137781841	49	30.56	22	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans_2,superfamily_NAD(P)-bd,superfamily_SSF81324	p.S111T	ENST00000263604.3	37	c.331		9	.	.	.	.	.	.	.	.	.	.	.	14.82	2.649289	0.47362	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.48522	1.8;1.72;1.72;0.81;1.78	4.05	4.05	0.47172	.	0.000000	0.64402	U	0.000002	T	0.41119	0.1145	L	0.52364	1.645	0.80722	D	1	B;B	0.28082	0.148;0.2	B;B	0.28385	0.051;0.089	T	0.27123	-1.0083	10	0.26408	T	0.33	0.0214	12.4763	0.55817	0.0:0.0:0.0:1.0	.	111;63	B9EGP2;G5E9V0	.;.	T	63;111;111;58;72;78;92;92;92	ENSP00000417851:S63T;ENSP00000298480:S111T;ENSP00000360822:S111T;ENSP00000420764:S58T;ENSP00000263604:S92T	ENSP00000263604:S92T	S	+	1	0	KCNT1	137781841	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	7.713000	0.84693	1.613000	0.50231	0.379000	0.24179	TCG	-	NULL		0.602	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	KCNT1	protein_coding		T	NM_020822		137781841	1	no_errors	NM_020822.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	138642020	T	A	138642020	3	1	93	1	0	0	0	0	1	0	0	0	8091	1435	50	5	341	5	KCNT1	9	138642020	Missense_Mutation	SNP	T	TCGA-AB-2900-03A-01W-0733-08		138642020	2571411	13	1003											
LRP5	4041	genome.wustl.edu	37	11	68115417	68115417	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr11:68115417C>T	ENST00000294304.7	+	2	300	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	65	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A65V(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGAGGATGCGGCCGCAGTG	0.652																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											52	53	53					11																	68115417		2200	4294	6494	67871993	SO:0001583	missense	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"Low density lipoprotein receptors"	6697	protein-coding gene	gene with protein product		603506	"osteoporosis pseudoglioma syndrome", "exudative vitreoretinopathy 1"	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.194C>T	11.37:g.68115417C>T	ENSP00000294304:p.Ala65Val	62	1.59	1		2	0	0	67871993	46	48.91	45	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	HMMPfam_Ldl_recept_b,HMMSmart_SM00135,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin,superfamily_YWTD domain	p.A65V	ENST00000294304.7	37	c.194	CCDS8181.1	11	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657910	0.88154	.	.	ENSG00000162337	ENST00000294304	D	0.90563	-2.69	4.58	4.58	0.56647	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.41938	U	0.000799	D	0.94042	0.8091	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	D	0.94494	0.7704	10	0.59425	D	0.04	.	17.3942	0.87440	0.0:1.0:0.0:0.0	.	65	O75197	LRP5_HUMAN	V	65	ENSP00000294304:A65V	ENSP00000294304:A65V	A	+	2	0	LRP5	67871993	1.000000	0.71417	0.765000	0.31456	0.541000	0.35023	7.723000	0.84788	2.245000	0.73994	0.561000	0.74099	GCG	-	HMMSmart_SM00135,superfamily_YWTD domain		0.652	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	protein_coding	OTTHUMT00000395088.1	C	NM_002335		67871993	1	no_errors	NM_002335.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	68115417	C	T	68115417	3	4	93	1	0	0	0	0	1	0	0	0	8960	768	27	1	200	1	LRP5	11	68115417	Missense_Mutation	SNP	C	TCGA-AB-2900-03A-01W-0733-08		68115417	66891099	14	1004											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	87	5.43	5		300	45.57	252	27490642	94	37.5	57	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	93	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2900-03A-01W-0733-08		28592642	86577236	15	1005											
SPTB	6710	genome.wustl.edu	37	14	65237713	65237713	+	Silent	SNP	C	C	A			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr14:65237713C>A	ENST00000389721.5	-	26	5720	c.5688G>T	c.(5686-5688)cgG>cgT	p.R1896R	SPTB_ENST00000556626.1_Silent_p.R1896R|SPTB_ENST00000542895.1_Silent_p.R1896R|SPTB_ENST00000389720.3_Silent_p.R1896R|SPTB_ENST00000389722.3_Silent_p.R1896R	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1896					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGCTGGGTCCGGCGCCCGG	0.627																																						dbGAP											0			14											57	58	58					14																	65237713		2203	4300	6503	64307466	SO:0001819	synonymous_variant	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"Pleckstrin homology (PH) domain containing"	11274	protein-coding gene	gene with protein product	"spherocytosis, clinical type I"	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5688G>T	14.37:g.65237713C>A		26	0	0		0	100	1	64307466	95	36.24	54	Q15510|Q15519	Silent	SNP	PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_CH,HMMPfam_PH,HMMSmart_PH,HMMPfam_Spectrin,superfamily_Calponin-homology,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF50729	p.R1896	ENST00000389721.5	37	c.5688	CCDS32100.1	14																																																																																			-	HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin		0.627	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	C			64307466	-1	no_errors	NM_001024858.4	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	65237713	C	A	65237713	2	1	93	1	0	0	0	0	0	0	0	1	15117	842	30	4		4	SPTB	14	65237713	Silent	SNP	C	TCGA-AB-2900-03A-01W-0733-08		65237713	42111827	16	1006											
ANKRD12	23253	genome.wustl.edu	37	18	9256666	9256666	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr18:9256666A>G	ENST00000262126.4	+	9	3641	c.3401A>G	c.(3400-3402)aAa>aGa	p.K1134R	ANKRD12_ENST00000383440.2_Missense_Mutation_p.K1111R|ANKRD12_ENST00000400020.3_Missense_Mutation_p.K1111R|RP11-888D10.4_ENST00000609701.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1134						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACTGAATCCAAAAATAAAGAA	0.318																																						dbGAP											0			18											54	55	55					18																	9256666		2200	4298	6498	9246666	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"Ankyrin repeat domain containing"	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.3401A>G	18.37:g.9256666A>G	ENSP00000262126:p.Lys1134Arg	69	4.11	3		16	38.46	10	9246666	143	47.64	131	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.K1134R	ENST00000262126.4	37	c.3401	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	A	15.44	2.833734	0.50951	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.67865	-0.29;-0.29	5.47	4.32	0.51571	.	0.357240	0.32002	N	0.006738	T	0.70395	0.3219	L	0.31207	0.915	0.36326	D	0.858562	D;D	0.71674	0.998;0.997	D;D	0.80764	0.994;0.985	T	0.74562	-0.3624	10	0.45353	T	0.12	-20.2648	11.1632	0.48528	0.9278:0.0:0.0722:0.0	.	1111;1134	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	R	1111;1134	ENSP00000372932:K1111R;ENSP00000262126:K1134R	ENSP00000262126:K1134R	K	+	2	0	ANKRD12	9246666	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.846000	0.62860	0.917000	0.36895	0.528000	0.53228	AAA	-	superfamily_Ankyrin repeat		0.318	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	A	NM_015208		9246666	1	no_errors	NM_015208.1	genbank	human	validated	54_36p	missense	SNP	0.977	G	G	9256666	A	G	9256666	3	3	93	1	0	0	0	0	1	0	0	0	640	14	1	3	3431	3	ANKRD12	18	9256666	Missense_Mutation	SNP	A	TCGA-AB-2900-03A-01W-0733-08		9256666	68820582	17	1007											
CEBPA	1050	genome.wustl.edu	37	19	33792464	33792465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr19:33792464_33792465insG	ENST00000498907.2	-	1	1005_1006	c.856_857insC	c.(856-858)cggfs	p.R286fs	CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.7_ENST00000587312.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	286	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H200_K352>Q(1)|p.R286fs*32(1)|p.?(1)|p.R286fs*38(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GCGCCGCACCCGGTACTCGTTG	0.688			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	4	Unknown(1)|Complex - deletion inframe(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(4)	19																																								38484305	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.857dupC	19.37:g.33792466_33792466dupG	ENSP00000427514:p.Arg286fs	9	0	0		44	32.31	21	38484304	31	32.61	15	A7LNP2|P78319|Q05CA4	Frame_Shift_Ins	INS	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.R286fs	ENST00000498907.2	37	c.857_856	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.688	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	-	NM_004364		38484305	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	G	G	33792465	-	G	33792464	7	5	93	1	0	1	1	0	0	0	0	0	3199	652	23	0	223	0	CEBPA	19	33792464	Frame_Shift_Ins	INS	-	TCGA-AB-2900-03A-01W-0733-08		33792464	25336519	18	1008											
CECR2	27443	genome.wustl.edu	37	22	17990917	17990917	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chr22:17990917G>A	ENST00000400585.2	+	8	892	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	CECR2_ENST00000262608.8_Missense_Mutation_p.V274I|CECR2_ENST00000342247.5_Intron|CECR2_ENST00000400573.5_Missense_Mutation_p.V293I			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	315					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CATCAAACCCGTCAAGCAAGA	0.473																																						dbGAP											0			22											126	123	124					22																	17990917		2044	4187	6231	16370917	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.454G>A	22.37:g.17990917G>A	ENSP00000383428:p.Val152Ile	161	4.09	7					16370917	113	44.66	92	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1	p.V293I	ENST00000400585.2	37	c.877		22	.	.	.	.	.	.	.	.	.	.	G	0.057	-1.233327	0.01505	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.34859	1.34;1.34;1.34	3.77	1.43	0.22495	.	0.601499	0.13322	N	0.396579	T	0.09247	0.0228	N	0.00707	-1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34129	-0.9841	10	0.15066	T	0.55	-1.4868	4.7254	0.12938	0.615:0.1804:0.2046:0.0	.	315;152;293	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	I	152;293;274	ENSP00000383428:V152I;ENSP00000383417:V293I;ENSP00000262608:V274I	ENSP00000262608:V274I	V	+	1	0	CECR2	16370917	0.997000	0.39634	0.878000	0.34440	0.678000	0.39670	0.709000	0.25734	0.527000	0.28560	-0.324000	0.08512	GTC	-	NULL		0.473	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	G	NM_031413		16370917	1	no_errors	ENST00000400585	ensembl	human	known	54_36p	missense	SNP	0.987	A	A	17990917	G	A	17990917	3	1	93	1	0	0	0	0	1	0	0	0	3206	1145	40	1	845	1	CECR2	22	17990917	Missense_Mutation	SNP	G	TCGA-AB-2900-03A-01W-0733-08		17990917	33313649	19	1009											
SMC1A	8243	genome.wustl.edu	37	X	53423537	53423537	+	Splice_Site	SNP	C	C	A			TCGA-AB-2900-03A-01W-0733-08	TCGA-AB-2900-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70e697ae-f265-4598-b261-92c92622bf2d	e553d484-56f9-4c88-b500-f4e4e295b394	g.chrX:53423537C>A	ENST00000322213.4	-	17	2690	c.2563G>T	c.(2563-2565)Gag>Tag	p.E855*		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	855					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTTTGTTCCTCCTGGTCCCAG	0.483																																						dbGAP											0			X											134	103	113					X																	53423537		2203	4300	6503	53440262	SO:0001630	splice_region_variant	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2563-1G>T	X.37:g.53423537C>A		31	18.42	7		0	93.18	41	53440262	14	89.05	122	O14995|Q16351|Q2M228	Nonsense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540	p.E855*	ENST00000322213.4	37	c.2563	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	C	43	9.867809	0.99284	.	.	ENSG00000072501	ENST00000322213	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	.	14.5166	0.67824	0.0:1.0:0.0:0.0	.	.	.	.	X	855	.	ENSP00000323421:E855X	E	-	1	0	SMC1A	53440262	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.169000	0.77578	2.225000	0.72522	0.529000	0.55759	GAG	-	HMMPfam_SMC_N,superfamily_SSF52540		0.483	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	C	NM_006306	Nonsense_Mutation	53440262	-1	no_errors	NM_006306.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	53423537	C	A	53423537	5	1	93	1	0	0	0	0	0	0	1	0	14781	869	30	4	1174	4	SMC1A	23	53423537	Splice_Site	SNP	C	TCGA-AB-2900-03A-01W-0733-08		53423537	101847023	20	1010											
RBMS1	5937	genome.wustl.edu	37	2	161133832	161133832	+	Silent	SNP	C	C	T			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr2:161133832C>T	ENST00000348849.3	-	12	1555	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	RBMS1_ENST00000392753.3_Silent_p.T388T|RBMS1_ENST00000409075.1_Silent_p.T339T|RBMS1_ENST00000409972.1_Silent_p.T339T|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409289.2_Silent_p.T339T	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	375					DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								GAACCGCTGTCGTCTGCATAT	0.428																																						dbGAP											0			2											138	107	118					2																	161133832		2203	4300	6503	160842078	SO:0001819	synonymous_variant	0			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"RNA binding motif (RRM) containing"	9907	protein-coding gene	gene with protein product	"suppressor of cdc 2 (cdc13) with RNA binding motif 2", "c-myc gene single strand binding protein 2"	602310	"chromosome 2 open reading frame 12"	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.1125G>A	2.37:g.161133832C>T		120	7.63	10		8	52.94	9	160842078	60	50	60	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	Silent	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.T375	ENST00000348849.3	37	c.1125	CCDS2213.1	2																																																																																			-	NULL		0.428	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	protein_coding	OTTHUMT00000255043.4	C	NM_016836		160842078	-1	no_errors	NM_016836.4	genbank	human	reviewed	54_36p	silent	SNP	0.019	T	T	161133832	C	T	161133832	2	4	94	1	0	0	0	0	0	0	0	1	13148	871	31	1		1	RBMS1	2	161133832	Silent	SNP	C	TCGA-AB-2901-03A-01W-0733-08		161133832	82065541	1	1011											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	114	4.2	5		81	46.36	70	208821358	63	48.36	59	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	94	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2901-03A-01W-0733-08	47979281	209113113	34086260	2	1012											
HECW1	23072	genome.wustl.edu	37	7	43591889	43591889	+	Silent	SNP	G	G	A	rs374730956		TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr7:43591889G>A	ENST00000395891.2	+	28	5069	c.4464G>A	c.(4462-4464)gcG>gcA	p.A1488A	HECW1_ENST00000453890.1_Silent_p.A1454A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1488	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGGCACCGCGGAAATCGACC	0.522																																						dbGAP											0			7						G		0,4066		0,0,2033	120	124	122		4464	-10.7	0.6	7		122	1,8363		0,1,4181	no	coding-synonymous	HECW1	NM_015052.3		0,1,6214	AA,AG,GG		0.012,0.0,0.0080		1488/1607	43591889	1,12429	2033	4182	6215	43558414	SO:0001819	synonymous_variant	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4464G>A	7.37:g.43591889G>A		297	5.61	18					43558414	177	44.1	142	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB	p.A1488	ENST00000395891.2	37	c.4464	CCDS5469.2	7																																																																																			-	HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT		0.522	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	G	NM_015052		43558414	1	no_errors	NM_015052.3	genbank	human	validated	54_36p	silent	SNP	0.315	A	A	43591889	G	A	43591889	2	1	94	1	0	0	0	0	0	0	0	1	7042	1103	39	1		1	HECW1	7	43591889	Silent	SNP	G	TCGA-AB-2901-03A-01W-0733-08		43591889	115546774	3	1013											
OR52E8	390079	genome.wustl.edu	37	11	5878755	5878755	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr11:5878755T>C	ENST00000537935.1	-	1	209	c.178A>G	c.(178-180)Agt>Ggt	p.S60G	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGGAGACTCTGCTCAGTC	0.468																																						dbGAP											0			11											118	137	131					11																	5878755		2146	4296	6442	5835331	SO:0001583	missense	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"GPCR / Class A : Olfactory receptors"	15217	protein-coding gene	gene with protein product			"olfactory receptor, family 52, subfamily E, member 8 pseudogene"				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.178A>G	11.37:g.5878755T>C	ENSP00000444054:p.Ser60Gly	166	4.6	8					5835331	121	41.55	86	B9EH38	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.S60G	ENST00000537935.1	37	c.178	CCDS31400.1	11	.	.	.	.	.	.	.	.	.	.	T	9.700	1.154292	0.21371	.	.	ENSG00000183269	ENST00000537935	T	0.00441	7.41	4.35	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.173756	0.40554	N	0.001066	T	0.00580	0.0019	M	0.89095	3.005	0.29052	N	0.884421	B	0.12013	0.005	B	0.16722	0.016	T	0.14035	-1.0487	10	0.72032	D	0.01	.	9.2557	0.37581	0.162:0.0:0.0:0.838	.	60	Q6IFG1	O52E8_HUMAN	G	60	ENSP00000444054:S60G	ENSP00000444054:S60G	S	-	1	0	OR52E8	5835331	0.058000	0.20735	0.215000	0.23724	0.053000	0.15095	1.933000	0.40153	0.771000	0.33359	0.448000	0.29417	AGT	-	HMMPfam_7tm_1,superfamily_SSF81321		0.468	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	protein_coding	OTTHUMT00000401145.1	T	NM_001005168		5835331	-1	no_errors	NM_001005168.1	genbank	human	provisional	54_36p	missense	SNP	0.746	C	C	5878755	T	C	5878755	3	2	94	1	0	0	0	0	1	0	0	0	11118	1551	54	3	777	3	OR52E8	11	5878755	Missense_Mutation	SNP	T	TCGA-AB-2901-03A-01W-0733-08		5878755	129127761	4	1014											
AGBL2	79841	genome.wustl.edu	37	11	47712055	47712055	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr11:47712055C>A	ENST00000525123.1	-	10	1489	c.1204G>T	c.(1204-1206)Gat>Tat	p.D402Y	AGBL2_ENST00000528244.1_Missense_Mutation_p.D364Y|AGBL2_ENST00000357610.3_Missense_Mutation_p.D402Y|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.D402Y	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	402						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CATTGCAAATCAGTGTATGTA	0.468																																						dbGAP											0			11											163	138	146					11																	47712055		2201	4298	6499	47668631	SO:0001583	missense	0				CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"cytoplasmic carboxypeptidase 2"					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1204G>T	11.37:g.47712055C>A	ENSP00000435582:p.Asp402Tyr	545	3.18	18		3	0	0	47668631	197	45.08	165	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	HMMPfam_Peptidase_M14,superfamily_Zn-dependent exopeptidases	p.D402Y	ENST00000525123.1	37	c.1204	CCDS7944.1	11	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824780	0.50739	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	5.57	3.61	0.41365	.	0.136846	0.64402	D	0.000003	T	0.56262	0.1973	M	0.74546	2.27	0.38222	D	0.940778	D;D;D	0.76494	0.999;0.983;0.983	D;P;D	0.71656	0.974;0.885;0.942	T	0.60571	-0.7237	9	.	.	.	-18.175	11.3836	0.49771	0.0:0.8463:0.0:0.1537	.	364;364;402	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	Y	402;402;402;364	ENSP00000435582:D402Y;ENSP00000350228:D402Y;ENSP00000298861:D402Y;ENSP00000436630:D364Y	.	D	-	1	0	AGBL2	47668631	0.798000	0.28890	0.018000	0.16275	0.961000	0.63080	1.459000	0.35234	0.753000	0.32945	-0.345000	0.07892	GAT	-	superfamily_Zn-dependent exopeptidases		0.468	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	AGBL2	protein_coding	OTTHUMT00000383726.2	C	NM_024783		47668631	-1	no_errors	NM_024783.2	genbank	human	validated	54_36p	missense	SNP	0.729	A	A	47712055	C	A	47712055	3	1	94	1	0	0	0	0	1	0	0	0	376	826	29	4	1544	4	AGBL2	11	47712055	Missense_Mutation	SNP	C	TCGA-AB-2901-03A-01W-0733-08	41833300	47712055	87294461	5	1015											
LYRM5	144363	genome.wustl.edu	37	12	25357224	25357224	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr12:25357224C>T	ENST00000381356.4	+	3	410	c.251C>T	c.(250-252)tCa>tTa	p.S84L	LYRM5_ENST00000556927.1_Missense_Mutation_p.S82L|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.S82L|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000557540.2_Missense_Mutation_p.S82L|LYRM5_ENST00000556885.1_Missense_Mutation_p.S82L|LYRM5_ENST00000553788.1_Intron	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	84						mitochondrion (GO:0005739)				large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			CGCTATTATTCAGATACCAAC	0.313																																						dbGAP											0			12											53	52	52					12																	25357224		1842	4093	5935	25248491	SO:0001583	missense	0			AK057730	CCDS53764.1	12p12.1	2006-09-19				ENSG00000205707		"LYR motif containing"	27052	protein-coding gene	gene with protein product							Standard	NM_001001660		Approved		uc001rgn.3	Q6IPR1		ENST00000381356.4:c.251C>T	12.37:g.25357224C>T	ENSP00000370761:p.Ser84Leu	255	3.02	8		22	45	18	25248491	179	34.06	94	J3KPI7	Missense_Mutation	SNP	HMMPfam_Complex1_LYR	p.S84L	ENST00000381356.4	37	c.251	CCDS53764.1	12	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258425	0.39896	.	.	ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000556885;ENST00000556351;ENST00000556927	T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91	6.03	4.12	0.48240	.	0.597033	0.17599	N	0.168479	T	0.16214	0.0390	.	.	.	0.25243	N	0.989737	B	0.22983	0.078	B	0.18263	0.021	T	0.05451	-1.0884	9	0.54805	T	0.06	.	5.0485	0.14496	0.2327:0.5602:0.1317:0.0753	.	82	Q6IPR1	LYRM5_HUMAN	L	82;84;82;82;82	ENSP00000450584:S82L;ENSP00000370761:S84L;ENSP00000451494:S82L;ENSP00000452146:S82L;ENSP00000450443:S82L	ENSP00000370761:S84L	S	+	2	0	LYRM5	25248491	0.987000	0.35691	1.000000	0.80357	0.966000	0.64601	1.777000	0.38604	2.854000	0.98071	0.655000	0.94253	TCA	-	NULL		0.313	LYRM5-201	KNOWN	basic|CCDS	protein_coding	LYRM5	protein_coding		C	NM_001001660		25248491	1	no_errors	NM_001001660.2	genbank	human	validated	54_36p	missense	SNP	0.130	T	T	25357224	C	T	25357224	3	4	94	1	0	0	0	0	1	0	0	0	9122	838	29	2	257	2	LYRM5	12	25357224	Missense_Mutation	SNP	C	TCGA-AB-2901-03A-01W-0733-08		25357224	108494671	6	1016											
RYR3	6263	genome.wustl.edu	37	15	34123246	34123246	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr15:34123246T>A	ENST00000389232.4	+	86	11487	c.11417T>A	c.(11416-11418)cTg>cAg	p.L3806Q	RYR3_ENST00000415757.3_Missense_Mutation_p.L3801Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3806					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCCAAAGCTCTGGCAGTCACC	0.378																																						dbGAP											0			15											96	89	91					15																	34123246		1863	4095	5958	31910538	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"Ion channels / Ryanodine receptors", "EF-hand domain containing"	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11417T>A	15.37:g.34123246T>A	ENSP00000373884:p.Leu3806Gln	162	10.38	19					31910538	110	48.64	107	O15175|Q15412	Missense_Mutation	SNP	HMMPfam_RYDR_ITPR,HMMPfam_RyR,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_SPRY,HMMPfam_Ion_trans,HMMPfam_RR_TM4-6,HMMPfam_RIH_assoc,HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_efhand,HMMSmart_SM00449,superfamily_EF-hand	p.L3806Q	ENST00000389232.4	37	c.11417	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814773	0.90790	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T	0.69926	-0.44	5.65	5.65	0.86999	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	D	0.000008	T	0.77579	0.4151	L	0.46157	1.445	0.53005	D	0.999963	D;D	0.89917	0.999;1.0	D;D	0.83275	0.991;0.996	T	0.79519	-0.1770	10	0.87932	D	0	.	16.0399	0.80667	0.0:0.0:0.0:1.0	.	3801;3806	Q15413-2;Q15413	.;RYR3_HUMAN	Q	3806;3805;3802	ENSP00000373884:L3806Q	ENSP00000354735:L3802Q	L	+	2	0	RYR3	31910538	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.776000	0.85560	2.371000	0.80710	0.533000	0.62120	CTG	-	HMMPfam_RIH_assoc		0.378	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	protein_coding	OTTHUMT00000417514.1	T			31910538	1	no_errors	NM_001036.3	genbank	human	validated	54_36p	missense	SNP	0.980	A	A	34123246	T	A	34123246	3	1	94	1	0	0	0	0	1	0	0	0	13770	1580	55	5	11759	5	RYR3	15	34123246	Missense_Mutation	SNP	T	TCGA-AB-2901-03A-01W-0733-08		34123246	68408146	7	1017											
C16orf57	79650	genome.wustl.edu	37	16	58051273	58051273	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2901-03A-01W-0733-08	TCGA-AB-2901-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	bac6a6d2-8c40-43cd-ab4c-16d3f8a06eb6	22f3f166-41a7-4058-a315-d72e1d7becd6	g.chr16:58051273C>G	ENST00000539737.2	+	4	564	c.485C>G	c.(484-486)gCc>gGc	p.A162G	USB1_ENST00000219281.3_Missense_Mutation_p.A180G|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Missense_Mutation_p.A129G	NM_001195302.1	NP_001182231.1			U6 snRNA biogenesis 1																		TCAGGGCATGCCCAGTTCCTG	0.537																																						dbGAP											0			16											167	146	153					16																	58051273		2198	4300	6498	56608774	SO:0001583	missense	0			AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"HVSL motif containing 1", "poikiloderma with neutropenia", "U six biogenesis 1", "mutated in poikiloderma with neutropenia protein 1"	613276	"chromosome 16 open reading frame 57"	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000539737.2:c.485C>G	16.37:g.58051273C>G	ENSP00000446143:p.Ala162Gly	434	3.9	18		31	43.64	24	56608774	116	43.69	90		Missense_Mutation	SNP	HMMPfam_HVSL	p.A180G	ENST00000539737.2	37	c.539	CCDS55998.1	16	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340298	0.41398	.	.	ENSG00000103005	ENST00000219281;ENST00000543731;ENST00000539737	T;T	0.55413	0.96;0.52	5.24	4.28	0.50868	.	0.737577	0.13336	N	0.395514	T	0.36580	0.0972	N	0.21373	0.66	0.80722	D	1	B;B	0.20550	0.046;0.045	B;B	0.27170	0.051;0.077	T	0.12293	-1.0553	10	0.23302	T	0.38	-5.4662	6.3521	0.21381	0.1843:0.7193:0.0:0.0964	.	162;180	B4DZW5;Q9BQ65	.;CP057_HUMAN	G	180;128;162	ENSP00000219281:A180G;ENSP00000446143:A162G	ENSP00000219281:A180G	A	+	2	0	C16orf57	56608774	0.084000	0.21492	0.934000	0.37439	0.987000	0.75469	1.840000	0.39230	1.197000	0.43143	0.650000	0.86243	GCC	-	HMMPfam_HVSL		0.537	USB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	C16orf57	protein_coding	OTTHUMT00000429947.1	C	NM_024598		56608774	1	no_errors	NM_024598.2	genbank	human	validated	54_36p	missense	SNP	0.769	G	G	58051273	C	G	58051273	3	3	94	1	0	0	0	0	1	0	0	0	1821	739	26	4	557	4	C16orf57	16	58051273	Missense_Mutation	SNP	C	TCGA-AB-2901-03A-01W-0733-08		58051273	32303480	8	1018											
AP1S3	130340	genome.wustl.edu	37	2	224640648	224640648	+	Silent	SNP	G	G	A	rs551737949		TCGA-AB-2903-03A-01W-0761-09	TCGA-AB-2903-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dfa1b9d8-2350-47c4-8e24-999a0fdc367a	5948c190-d1f4-46e3-8797-fde42703d879	g.chr2:224640648G>A	ENST00000446015.2	-	3	294	c.261C>T	c.(259-261)taC>taT	p.Y87Y	AP1S3_ENST00000423110.1_Silent_p.Y87Y|AP1S3_ENST00000396654.2_Silent_p.Y87Y|AP1S3_ENST00000409375.1_Silent_p.Y87Y|AP1S3_ENST00000443700.1_Silent_p.Y87Y|AP1S3_ENST00000396653.2_Intron			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	87					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane coat (GO:0030117)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGCTCCACGTAACGATGCA	0.388													G|||	1	0.000199681	0	0	5008	,	,		18560	0.001		0	False		,,,				2504	0					dbGAP											0			2											113	102	106					2																	224640648		1954	4162	6116	224348892	SO:0001819	synonymous_variant	0			AF393369	CCDS42827.1	2q36.3	2008-02-05			ENSG00000152056	ENSG00000152056			18971	protein-coding gene	gene with protein product		615781					Standard	NR_110905		Approved		uc002vnn.3	Q96PC3	OTTHUMG00000133165	ENST00000446015.2:c.261C>T	2.37:g.224640648G>A		389	9.07	39		6	25	2	224348892	330	25.17	113	B4DQZ1|Q8WTY1|Q96DD1	Silent	SNP	HMMPfam_Clat_adaptor_s,PatternScan_CLAT_ADAPTOR_S,superfamily_SNARE-like	p.Y87	ENST00000446015.2	37	c.261		2																																																																																			-	HMMPfam_Clat_adaptor_s,superfamily_SNARE-like		0.388	AP1S3-008	KNOWN	basic|appris_principal	protein_coding	AP1S3	protein_coding	OTTHUMT00000383293.1	G			224348892	-1	no_errors	NM_001039569.1	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	224640648	G	A	224640648	2	1	95	1	0	0	0	0	0	0	0	1	738	1140	40	1		1	AP1S3	2	224640648	Silent	SNP	G	TCGA-AB-2903-03A-01W-0761-09		224640648	18558725	1	1019											
PLEKHG5	57449	genome.wustl.edu	37	1	6531119	6531119	+	Silent	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr1:6531119C>T	ENST00000400915.3	-	14	1557	c.1491G>A	c.(1489-1491)gaG>gaA	p.E497E	PLEKHG5_ENST00000377748.1_Silent_p.E518E|PLEKHG5_ENST00000537245.1_Silent_p.E520E|PLEKHG5_ENST00000544978.1_Silent_p.E441E|PLEKHG5_ENST00000377740.3_Silent_p.E518E|PLEKHG5_ENST00000377732.1_Silent_p.E478E|PLEKHG5_ENST00000535355.1_Silent_p.E510E|PLEKHG5_ENST00000377728.3_Silent_p.E441E|PLEKHG5_ENST00000400913.1_Silent_p.E441E|PLEKHG5_ENST00000377737.2_Silent_p.E441E|PLEKHG5_ENST00000340850.5_Silent_p.E441E|PLEKHG5_ENST00000377725.1_Silent_p.E441E	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	497	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCCTCCTCCTCCATGCAGT	0.711																																						dbGAP											0			1											25	23	23					1																	6531119		2201	4295	6496	6453706	SO:0001819	synonymous_variant	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"Pleckstrin homology (PH) domain containing"	29105	protein-coding gene	gene with protein product	"synectin-binding guanine exchange factor"	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1491G>A	1.37:g.6531119C>T		15	0	0		1	75	3	6453706	11	56	14	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729	p.E518	ENST00000400915.3	37	c.1554	CCDS41241.1	1																																																																																			-	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain		0.711	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	protein_coding	OTTHUMT00000002631.1	C	NM_020631		6453706	-1	no_errors	NM_198681.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	6531119	C	T	6531119	2	4	96	1	0	0	0	0	0	0	0	1	12073	680	24	2		2	PLEKHG5	1	6531119	Silent	SNP	C	TCGA-AB-2904-03A-01W-0732-08		6531119	242719502	1	1020											
KCNN3	3782	genome.wustl.edu	37	1	154744661	154744661	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr1:154744661A>T	ENST00000271915.4	-	3	1553	c.1238T>A	c.(1237-1239)cTg>cAg	p.L413Q	KCNN3_ENST00000361147.4_Missense_Mutation_p.L108Q|KCNN3_ENST00000358505.2_Missense_Mutation_p.L100Q	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	418					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GTACAGGCGCAGGAACATGGG	0.602																																						dbGAP											0			1											105	88	93					1																	154744661		2203	4300	6503	153011285	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1238T>A	1.37:g.154744661A>T	ENSP00000271915:p.Leu413Gln	53	0	0					153011285	75	35.34	41	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	HMMPfam_CaMBD,superfamily_Small-conductance potassium channel,HMMPfam_SK_channel,HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels	p.L413Q	ENST00000271915.4	37	c.1238	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546921	0.86022	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.41400	1.0;1.0;1.0	4.87	4.87	0.63330	.	0.000000	0.42964	D	0.000625	T	0.61261	0.2333	M	0.85197	2.74	0.58432	D	0.999994	D;D;D	0.89917	1.0;0.998;0.97	D;D;D	0.87578	0.998;0.995;0.955	T	0.69599	-0.5102	10	0.87932	D	0	-12.1188	14.3052	0.66380	1.0:0.0:0.0:0.0	.	419;418;108	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	Q	108;413;100	ENSP00000354764:L108Q;ENSP00000271915:L413Q;ENSP00000351295:L100Q	ENSP00000271915:L413Q	L	-	2	0	KCNN3	153011285	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.135000	0.94478	2.041000	0.60428	0.459000	0.35465	CTG	-	superfamily_Voltage-gated potassium channels		0.602	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	protein_coding	OTTHUMT00000090688.3	A	NM_002249		153011285	-1	no_errors	NM_002249.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	154744661	A	T	154744661	3	4	96	1	0	0	0	0	1	0	0	0	8080	188	7	5	981	5	KCNN3	1	154744661	Missense_Mutation	SNP	A	TCGA-AB-2904-03A-01W-0732-08	148213542	154744661	94505960	2	1021											
C4BPB	725	genome.wustl.edu	37	1	207263773	207263773	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr1:207263773C>T	ENST00000243611.5	+	2	473	c.179C>T	c.(178-180)aCc>aTc	p.T60I	C4BPB_ENST00000367078.3_Missense_Mutation_p.T60I|C4BPB_ENST00000367076.3_Missense_Mutation_p.T59I|C4BPB_ENST00000391923.1_Missense_Mutation_p.T60I|C4BPB_ENST00000451804.2_Missense_Mutation_p.T50I	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	60	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						GGAAAGAAGACCCTTTTTTGC	0.448																																						dbGAP											0			1											141	126	131					1																	207263773		2203	4300	6503	205330396	SO:0001583	missense	0			L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"complement component 4 binding protein, beta chain", "C4b binding protein, beta chain"	120831	"complement component 4-binding protein, beta"	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	ENST00000243611.5:c.179C>T	1.37:g.207263773C>T	ENSP00000243611:p.Thr60Ile	150	0	0					205330396	149	40	100	A5JYP8|D3DT81|Q5VVR0|Q9BS25	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain	p.T60I	ENST00000243611.5	37	c.179	CCDS1476.1	1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.287926	0.23478	.	.	ENSG00000123843	ENST00000367078;ENST00000452902;ENST00000243611;ENST00000367076;ENST00000391923;ENST00000451804	T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.29	-0.424	0.12321	Complement control module (2);Sushi/SCR/CCP (3);	1.439940	0.04182	N	0.326764	T	0.50871	0.1641	N	0.25245	0.725	0.09310	N	1	P;P;B;B	0.43885	0.82;0.692;0.44;0.386	B;B;B;B	0.44224	0.444;0.202;0.12;0.073	T	0.38866	-0.9641	10	0.23891	T	0.37	-2.1125	1.6405	0.02751	0.2797:0.4151:0.1369:0.1683	.	50;50;60;59	E7EQT9;B4DDY0;P20851;P20851-2	.;.;C4BPB_HUMAN;.	I	60;60;60;59;60;50	ENSP00000356045:T60I;ENSP00000392237:T60I;ENSP00000243611:T60I;ENSP00000356043:T59I;ENSP00000375790:T60I;ENSP00000405649:T50I	ENSP00000243611:T60I	T	+	2	0	C4BPB	205330396	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.667000	0.05274	0.024000	0.15214	-0.188000	0.12872	ACC	-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.448	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C4BPB	protein_coding	OTTHUMT00000087847.2	C	NM_000716		205330396	1	no_errors	NM_000716.3	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	207263773	C	T	207263773	3	4	96	1	0	0	0	0	1	0	0	0	2250	507	18	2	185	2	C4BPB	1	207263773	Missense_Mutation	SNP	C	TCGA-AB-2904-03A-01W-0732-08	52519112	207263773	41986848	3	1022											
CAD	790	genome.wustl.edu	37	2	27466086	27466086	+	Silent	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr2:27466086C>T	ENST00000403525.1	+	42	6456	c.6312C>T	c.(6310-6312)ctC>ctT	p.L2104L	CAD_ENST00000264705.4_Silent_p.L2167L			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTTCATCCTCACTCCCCACA	0.562																																						dbGAP											0			2											79	72	75					2																	27466086		2203	4300	6503	27319590	SO:0001819	synonymous_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.6312C>T	2.37:g.27466086C>T		90	0	0		35	61.96	57	27319590	102	37.5	63	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	HMMPfam_GATase,PatternScan_DIHYDROOROTASE_1,PatternScan_DIHYDROOROTASE_2,HMMPfam_CPSase_sm_chain,superfamily_CP_synthsmall,HMMPfam_CPSase_L_D2,PatternScan_CPSASE_1,PatternScan_CPSASE_2,HMMPfam_CPSase_L_D3,superfamily_CarbamoylP_synth_lsu_oligo,HMMPfam_CPSase_L_chain,PatternScan_CARBAMOYLTRANSFERASE,superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace,HMMPfam_OTCace_N,HMMPfam_Amidohydro_1,superfamily_Metalo_hydrolase,HMMPfam_MGS,superfamily_PreATP-grasp-like,superfamily_SSF51556,superfamily_SSF52317,superfamily_SSF52335,superfamily_SSF56059	p.L2167	ENST00000403525.1	37	c.6501		2	.	.	.	.	.	.	.	.	.	.	C	9.394	1.076321	0.20227	.	.	ENSG00000084774	ENST00000428460	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	T	0.69504	0.3118	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67589	-0.5632	4	.	.	.	-12.684	13.7429	0.62857	0.0:0.8458:0.1542:0.0	.	.	.	.	L	235	.	.	S	+	2	0	CAD	27319590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.394000	0.34509	2.590000	0.87494	0.561000	0.74099	TCA	-	superfamily_Asp/Orn_carbamoyltranf,HMMPfam_OTCace		0.562	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	protein_coding	OTTHUMT00000324970.1	C			27319590	1	no_errors	NM_004341.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	27466086	C	T	27466086	2	4	96	1	0	0	0	0	0	0	0	1	2565	813	29	2		2	CAD	2	27466086	Silent	SNP	C	TCGA-AB-2904-03A-01W-0732-08		27466086	215733287	4	1023											
NCKAP5	344148	genome.wustl.edu	37	2	133721301	133721301	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr2:133721301C>T	ENST00000409261.1	-	8	944	c.571G>A	c.(571-573)Gct>Act	p.A191T	NCKAP5_ENST00000405974.3_Missense_Mutation_p.A191T|NCKAP5_ENST00000409213.1_Missense_Mutation_p.A191T|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A191T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	191										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ACCTCTAGAGCTTTCAATCTC	0.368																																						dbGAP											0			2											144	140	141					2																	133721301		1844	4099	5943	133437771	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"Nck associated protein 5", "peripheral clock protein"	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.571G>A	2.37:g.133721301C>T	ENSP00000387128:p.Ala191Thr	239	0	0					133437771	186	29.26	79	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	NULL	p.A191T	ENST00000409261.1	37	c.571	CCDS46418.1	2	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925494	0.73213	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661;ENST00000542834	T;T;T;T	0.46063	2.87;0.88;2.87;0.88	5.4	5.4	0.78164	.	.	.	.	.	T	0.47248	0.1435	N	0.14661	0.345	0.27565	N	0.950053	P;P;D	0.60160	0.59;0.93;0.987	B;P;D	0.64595	0.187;0.558;0.927	T	0.45011	-0.9290	9	0.49607	T	0.09	.	16.0277	0.80555	0.0:1.0:0.0:0.0	.	166;191;191	O14513-3;O14513-2;O14513	.;.;NCKP5_HUMAN	T	191;191;191;191;191;166	ENSP00000387128:A191T;ENSP00000386952:A191T;ENSP00000380603:A191T;ENSP00000385692:A191T	ENSP00000380603:A191T	A	-	1	0	NCKAP5	133437771	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	4.976000	0.63785	2.822000	0.97130	0.650000	0.86243	GCT	-	NULL		0.368	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAP5	protein_coding	OTTHUMT00000331663.1	C	NM_207481		133437771	-1	no_errors	NM_207363.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	133721301	C	T	133721301	3	4	96	1	0	0	0	0	1	0	0	0	10223	797	28	2	5210	2	NCKAP5	2	133721301	Missense_Mutation	SNP	C	TCGA-AB-2904-03A-01W-0732-08	106255215	133721301	109478072	5	1024											
SNED1	25992	genome.wustl.edu	37	2	242004814	242004814	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr2:242004814T>A	ENST00000310397.8	+	21	2813	c.2813T>A	c.(2812-2814)cTt>cAt	p.L938H	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.L938H|SNED1_ENST00000401884.1_Missense_Mutation_p.L938H|SNED1_ENST00000405547.3_Missense_Mutation_p.L938H	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	938	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCAGATGCTTGATGGCTAC	0.647																																						dbGAP											0			2											44	53	50					2																	242004814		2048	4173	6221	241653487	SO:0001583	missense	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"Fibronectin type III domain containing"	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2813T>A	2.37:g.242004814T>A	ENSP00000308893:p.Leu938His	9	0	0		1	50	1	241653487	23	23.33	7	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMSmart_SM00179,HMMPfam_NIDO,HMMSmart_SM00539,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.L938H	ENST00000310397.8	37	c.2813	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	T	16.50	3.140014	0.56936	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.65	4.65	0.58169	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.160830	0.28354	N	0.015656	T	0.56630	0.1998	N	0.24115	0.695	0.37154	D	0.90227	D;D;D	0.69078	0.996;0.996;0.997	P;P;P	0.62813	0.896;0.905;0.907	T	0.55692	-0.8101	10	0.13470	T	0.59	.	12.6471	0.56742	0.0:0.0:0.0:1.0	.	938;938;938	Q8TER0-5;B5MEF5;Q8TER0	.;.;SNED1_HUMAN	H	938	ENSP00000384871:L938H;ENSP00000386007:L938H;ENSP00000308893:L938H;ENSP00000342992:L938H	ENSP00000308893:L938H	L	+	2	0	SNED1	241653487	1.000000	0.71417	0.891000	0.34965	0.019000	0.09904	6.849000	0.75414	1.744000	0.51775	0.533000	0.62120	CTT	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.647	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	protein_coding	OTTHUMT00000323935.2	T	XM_059482		241653487	1	no_errors	NM_001080437.1	genbank	human	provisional	54_36p	missense	SNP	0.986	A	A	242004814	T	A	242004814	3	1	96	1	0	0	0	0	1	0	0	0	14845	1609	56	5	2895	5	SNED1	2	242004814	Missense_Mutation	SNP	T	TCGA-AB-2904-03A-01W-0732-08	108283513	242004814	1194559	6	1025											
KCNH8	131096	genome.wustl.edu	37	3	19498262	19498262	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr3:19498262A>C	ENST00000328405.2	+	11	2094	c.1828A>C	c.(1828-1830)Aaa>Caa	p.K610Q		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	610					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTTTCTAGGGAAAGGGGATTT	0.363																																					NSCLC(124;1625 1765 8018 24930 42026)	dbGAP											0			3											84	82	83					3																	19498262		2203	4300	6503	19473266	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1828A>C	3.37:g.19498262A>C	ENSP00000328813:p.Lys610Gln	115	0	0					19473266	125	39.13	81	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_cNMP,HMMSmart_PAC,HMMPfam_Ion_trans,HMMPfam_PAS,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_cNMP_binding,superfamily_SSF55785,superfamily_SSF81324	p.K610Q	ENST00000328405.2	37	c.1828	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	A	24.0	4.477164	0.84640	.	.	ENSG00000183960	ENST00000328405	D	0.92647	-3.08	5.58	5.58	0.84498	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.33075	U	0.005307	D	0.94761	0.8309	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	D	0.94306	0.7541	9	.	.	.	.	16.0489	0.80740	1.0:0.0:0.0:0.0	.	610	Q96L42	KCNH8_HUMAN	Q	610	ENSP00000328813:K610Q	.	K	+	1	0	KCNH8	19473266	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	9.221000	0.95188	2.253000	0.74438	0.455000	0.32223	AAA	-	HMMPfam_cNMP_binding,HMMSmart_cNMP,superfamily_cNMP_binding		0.363	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	A	NM_144633		19473266	1	no_errors	NM_144633.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	19498262	A	C	19498262	3	2	96	1	0	0	0	0	1	0	0	0	8038	247	9	5	1870	5	KCNH8	3	19498262	Missense_Mutation	SNP	A	TCGA-AB-2904-03A-01W-0732-08		19498262	178524168	7	1026											
NPNT	255743	genome.wustl.edu	37	4	106863541	106863541	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr4:106863541A>T	ENST00000379987.2	+	8	1057	c.841A>T	c.(841-843)Aca>Tca	p.T281S	NPNT_ENST00000453617.2_Missense_Mutation_p.T298S|NPNT_ENST00000305572.8_Missense_Mutation_p.T281S|NPNT_ENST00000427316.2_Missense_Mutation_p.T311S|NPNT_ENST00000506666.1_Missense_Mutation_p.T311S|NPNT_ENST00000514622.1_Missense_Mutation_p.T281S	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	281					branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AAAGGGTGACACAGGAAATAA	0.393																																						dbGAP											0			4											96	88	91					4																	106863541		2203	4300	6503	107082990	SO:0001583	missense	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.841A>T	4.37:g.106863541A>T	ENSP00000369323:p.Thr281Ser	166	0	0					107082990	119	30.23	52	A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_MAM,HMMSmart_SM00137,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.T281S	ENST00000379987.2	37	c.841	CCDS34046.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.336|2.336	-0.352275|-0.352275	0.05173|0.05173	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000514837|ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	.|T;T;T;T;T;T;T	.|0.78003	.|-0.74;-1.11;-0.83;-1.14;-0.83;-0.81;0.01	4.85|4.85	4.01|4.01	0.46588|0.46588	.|.	.|0.506479	.|0.22421	.|N	.|0.060289	T|T	0.54743|0.54743	0.1877|0.1877	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999999|0.999999	.|B;B;B;B;B;B;B	.|0.15930	.|0.007;0.002;0.002;0.004;0.001;0.015;0.014	.|B;B;B;B;B;B;B	.|0.18561	.|0.004;0.005;0.003;0.013;0.005;0.022;0.005	T|T	0.33599|0.33599	-0.9862|-0.9862	5|10	.|0.08837	.|T	.|0.75	.|.	10.3779|10.3779	0.44092|0.44092	0.1743:0.0:0.8257:0.0|0.1743:0.0:0.8257:0.0	.|.	.|281;311;311;298;328;281;281	.|E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9	.|.;.;.;.;.;.;NPNT_HUMAN	L|S	257|281;298;311;281;281;311;328	.|ENSP00000369323:T281S;ENSP00000402884:T298S;ENSP00000389252:T311S;ENSP00000422044:T281S;ENSP00000302557:T281S;ENSP00000422474:T311S;ENSP00000426146:T328S	.|ENSP00000302557:T281S	H|T	+|+	2|1	0|0	NPNT|NPNT	107082990|107082990	0.742000|0.742000	0.28228|0.28228	0.998000|0.998000	0.56505|0.56505	0.262000|0.262000	0.26303|0.26303	1.631000|1.631000	0.37092|0.37092	1.175000|1.175000	0.42826|0.42826	-0.232000|-0.232000	0.12228|0.12228	CAC|ACA	-	NULL		0.393	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	protein_coding	OTTHUMT00000364083.1	A	NM_198278		107082990	1	no_errors	NM_001033047.1	genbank	human	validated	54_36p	missense	SNP	0.984	T	T	106863541	A	T	106863541	3	4	96	1	0	0	0	0	1	0	0	0	10590	159	6	5	1020	5	NPNT	4	106863541	Missense_Mutation	SNP	A	TCGA-AB-2904-03A-01W-0732-08		106863541	84290735	8	1027											
PPWD1	23398	genome.wustl.edu	37	5	64875362	64875362	+	Silent	SNP	T	T	G			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr5:64875362T>G	ENST00000261308.5	+	7	1344	c.1272T>G	c.(1270-1272)tcT>tcG	p.S424S	PPWD1_ENST00000535264.1_Silent_p.S394S|PPWD1_ENST00000538977.1_Silent_p.S268S	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	424					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TGAAAGCTTCTGAAAATCCTG	0.348																																						dbGAP											0			5											61	63	62					5																	64875362		2203	4300	6503	64911118	SO:0001819	synonymous_variant	0			AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"WD repeat domain containing"	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1272T>G	5.37:g.64875362T>G		116	0	0		55	40.86	38	64911118	112	32.54	55	B4DWR9|Q15002|Q7KZ89	Silent	SNP	HMMSmart_WD40,HMMPfam_Pro_isomerase,PatternScan_CSA_PPIASE_1,superfamily_WD40_like,superfamily_CSA_PPIase,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.S424	ENST00000261308.5	37	c.1272	CCDS3985.1	5																																																																																			-	superfamily_WD40_like		0.348	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPWD1	protein_coding	OTTHUMT00000253970.2	T	NM_015342		64911118	1	no_errors	NM_015342.2	genbank	human	validated	54_36p	silent	SNP	0.994	G	G	64875362	T	G	64875362	2	3	96	1	0	0	0	0	0	0	0	1	12414	1567	55	5		5	PPWD1	5	64875362	Silent	SNP	T	TCGA-AB-2904-03A-01W-0732-08		64875362	116039898	9	1028											
PCDHGA5	56110	genome.wustl.edu	37	5	140745018	140745018	+	Missense_Mutation	SNP	G	G	T	rs553043540	byFrequency	TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr5:140745018G>T	ENST00000518069.1	+	1	1121	c.1121G>T	c.(1120-1122)gGt>gTt	p.G374V	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACATGATGGTGATTCTGGA	0.423																																						dbGAP											0			5											102	101	101					5																	140745018		2022	4182	6204	140725202	SO:0001583	missense	0			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"Cadherins / Protocadherins : Clustered"	8703	other	protocadherin	"cadherin ME3"	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.1121G>T	5.37:g.140745018G>T	ENSP00000429834:p.Gly374Val	80	1.2	1					140725202	31	56.94	41	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.G374V	ENST00000518069.1	37	c.1121	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	1.391	-0.580908	0.03854	.	.	ENSG00000253485	ENST00000518069	T	0.01665	4.7	5.52	-3.14	0.05250	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01421	0.0046	N	0.21373	0.66	0.09310	N	1	B;B	0.23058	0.004;0.079	B;B	0.33121	0.038;0.158	T	0.50224	-0.8853	9	0.66056	D	0.02	.	0.15	0.00092	0.2546:0.2028:0.2485:0.2941	.	374;374	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	V	374	ENSP00000429834:G374V	ENSP00000429834:G374V	G	+	2	0	PCDHGA5	140725202	0.000000	0.05858	0.178000	0.23040	0.086000	0.17979	-1.607000	0.02070	-0.422000	0.07405	-1.278000	0.01390	GGT	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.423	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	protein_coding	OTTHUMT00000374742.1	G	NM_018918		140725202	1	no_errors	NM_018918.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	T	T	140745018	G	T	140745018	3	4	96	1	0	0	0	0	1	0	0	0	11557	1261	44	4	1123	4	PCDHGA5	5	140745018	Missense_Mutation	SNP	G	TCGA-AB-2904-03A-01W-0732-08	75869656	140745018	40170242	10	1029											
BMP6	654	genome.wustl.edu	37	6	7845456	7845456	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr6:7845456G>A	ENST00000283147.6	+	2	907	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	250					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGAGGGTGAGGTGGTGACGGC	0.438																																						dbGAP											0			6											124	122	123					6																	7845456		2203	4300	6503	7790455	SO:0001583	missense	0			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"Bone morphogenetic proteins", "Endogenous ligands"	1073	protein-coding gene	gene with protein product		112266	"vegetal related growth factor (TGFB-related)"	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.748G>A	6.37:g.7845456G>A	ENSP00000283147:p.Val250Met	194	0	0		3	0	0	7790455	150	39.2	98	Q5TCP3	Missense_Mutation	SNP	HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501	p.V250M	ENST00000283147.6	37	c.748	CCDS4503.1	6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.362624	0.82353	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.65916	-0.18	5.41	5.41	0.78517	Transforming growth factor-beta, N-terminal (1);	0.100678	0.64402	D	0.000002	T	0.52773	0.1755	L	0.45352	1.415	0.20873	N	0.999835	P	0.45715	0.865	P	0.51055	0.657	T	0.52162	-0.8612	10	0.54805	T	0.06	.	13.4972	0.61432	0.0751:0.0:0.9249:0.0	.	250	P22004	BMP6_HUMAN	M	172;250;213	ENSP00000283147:V250M	ENSP00000283147:V250M	V	+	1	0	BMP6	7790455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.428000	0.80296	2.528000	0.85240	0.557000	0.71058	GTG	-	HMMPfam_TGFb_propeptide		0.438	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	protein_coding	OTTHUMT00000039794.1	G	NM_001718		7790455	1	no_errors	NM_001718.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	7845456	G	A	7845456	3	1	96	1	0	0	0	0	1	0	0	0	1464	1261	44	2	754	2	BMP6	6	7845456	Missense_Mutation	SNP	G	TCGA-AB-2904-03A-01W-0732-08		7845456	163269611	11	1030											
WDR27	253769	genome.wustl.edu	37	6	170033132	170033132	+	Missense_Mutation	SNP	C	C	T	rs562314826		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr6:170033132C>T	ENST00000448612.1	-	21	2243	c.2134G>A	c.(2134-2136)Gtg>Atg	p.V712M	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.V585M|WDR27_ENST00000333572.6_Missense_Mutation_p.V712M	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	682						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		AACACTTCCACGGTCCTGTTC	0.537													C|||	1	0.000199681	0	0	5008	,	,		16621	0		0	False		,,,				2504	0.001					dbGAP											0			6											61	63	62					6																	170033132		1997	4162	6159	169775057	SO:0001583	missense	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"WD repeat domain containing"	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2134G>A	6.37:g.170033132C>T	ENSP00000416289:p.Val712Met	43	0	0		2	50	2	169775057	62	38.83	40	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.V712M	ENST00000448612.1	37	c.2134	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	C	14.62	2.588345	0.46110	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.39056	4.61;1.1;4.61	5.04	-10.1	0.00402	.	0.598876	0.15252	N	0.272258	T	0.24699	0.0599	L	0.35644	1.08	0.44825	D	0.997837	P;D;P	0.65815	0.517;0.995;0.802	B;P;B	0.56514	0.078;0.8;0.162	T	0.72250	-0.4348	10	0.72032	D	0.01	-3.5969	12.5104	0.56003	0.217:0.2684:0.5146:0.0	.	712;585;712	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	M	712;712;585	ENSP00000416289:V712M;ENSP00000330265:V712M;ENSP00000397869:V585M	ENSP00000330265:V712M	V	-	1	0	WDR27	169775057	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.526000	0.02229	-2.863000	0.00326	-1.036000	0.02392	GTG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like		0.537	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	protein_coding	OTTHUMT00000407334.1	C	NM_182552		169775057	-1	no_errors	NM_182552.3	genbank	human	validated	54_36p	missense	SNP	0.002	T	T	170033132	C	T	170033132	3	4	96	1	0	0	0	0	1	0	0	0	17281	536	19	1	459	1	WDR27	6	170033132	Missense_Mutation	SNP	C	TCGA-AB-2904-03A-01W-0732-08	162187676	170033132	1081935	12	1031											
PKHD1L1	93035	genome.wustl.edu	37	8	110523048	110523048	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr8:110523048G>A	ENST00000378402.5	+	71	11542	c.11438G>A	c.(11437-11439)aGa>aAa	p.R3813K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3813					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACATGCCAGAGAAGGCTGTCC	0.408										HNSCC(38;0.096)																												dbGAP											0			8											196	189	191					8																	110523048		1952	4162	6114	110592224	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11438G>A	8.37:g.110523048G>A	ENSP00000367655:p.Arg3813Lys	177	0	0					110592224	203	49.13	198	Q567P2|Q9UF27	Missense_Mutation	SNP	HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Cupredoxins,superfamily_Pectin lyase-like,HMMSmart_SM00758,superfamily_E set domains,HMMPfam_G8,superfamily_Anthrax protective antigen	p.R3813K	ENST00000378402.5	37	c.11438	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	3.758	-0.050292	0.07407	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.83250	-1.7;-1.55	5.87	4.05	0.47172	.	0.124881	0.53938	D	0.000059	T	0.54078	0.1836	N	0.02011	-0.69	0.21473	N	0.999671	B	0.02656	0.0	B	0.01281	0.0	T	0.46428	-0.9192	10	0.02654	T	1	.	8.4269	0.32733	0.2411:0.0:0.7589:0.0	.	3813	Q86WI1	PKHL1_HUMAN	K	3813;741	ENSP00000367655:R3813K;ENSP00000437376:R741K	ENSP00000367655:R3813K	R	+	2	0	PKHD1L1	110592224	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	1.123000	0.31308	1.616000	0.50265	0.655000	0.94253	AGA	-	NULL		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110592224	1	no_errors	NM_177531.4	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	110523048	G	A	110523048	3	1	96	1	0	0	0	0	1	0	0	0	11972	942	33	2	11720	2	PKHD1L1	8	110523048	Missense_Mutation	SNP	G	TCGA-AB-2904-03A-01W-0732-08		110523048	35840974	13	1032											
C9orf93	203238	genome.wustl.edu	37	9	15744617	15744617	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr9:15744617G>A	ENST00000380701.3	+	17	2724	c.2396G>A	c.(2395-2397)cGt>cAt	p.R799H	CCDC171_ENST00000297641.3_Missense_Mutation_p.R799H	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	799																	GGATTGATACGTATATTTCGG	0.393																																						dbGAP											0			9											82	80	80					9																	15744617		2203	4300	6503	15734617	SO:0001583	missense	0			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"myosin tail domain containing protein"		"chromosome 9 open reading frame 93"	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.2396G>A	9.37:g.15744617G>A	ENSP00000370077:p.Arg799His	163	0	0		15	28.57	6	15734617	158	29.52	67	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	NULL	p.R799H	ENST00000380701.3	37	c.2396	CCDS6481.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.00|11.00	1.511159|1.511159	0.27036|0.27036	.|.	.|.	ENSG00000164989|ENSG00000164989	ENST00000297641;ENST00000380689;ENST00000380701|ENST00000449575	T;T|.	0.16196|.	2.36;2.36|.	5.46|5.46	4.55|4.55	0.56014|0.56014	.|.	0.286938|.	0.38897|.	N|.	0.001524|.	T|T	0.27098|0.27098	0.0664|0.0664	N|N	0.08118|0.08118	0|0	0.34355|0.34355	D|D	0.690256|0.690256	B;B;B;B|.	0.06786|.	0.001;0.001;0.001;0.001|.	B;B;B;B|.	0.01281|.	0.0;0.0;0.0;0.0|.	T|T	0.28839|0.28839	-1.0031|-1.0031	10|5	0.17369|.	T|.	0.5|.	-0.191|-0.191	6.41|6.41	0.21686|0.21686	0.1919:0.0:0.8081:0.0|0.1919:0.0:0.8081:0.0	.|.	807;799;66;799|.	B7ZM22;Q6TFL3-3;A6NK04;Q6TFL3|.	.;.;.;CI093_HUMAN|.	H|I	799;66;799|39	ENSP00000297641:R799H;ENSP00000370077:R799H|.	ENSP00000297641:R799H|.	R|V	+|+	2|1	0|0	C9orf93|C9orf93	15734617|15734617	0.037000|0.037000	0.19845|0.19845	0.164000|0.164000	0.22755|0.22755	0.263000|0.263000	0.26337|0.26337	0.847000|0.847000	0.27696|0.27696	2.733000|2.733000	0.93635|0.93635	0.467000|0.467000	0.42956|0.42956	CGT|GTA	-	NULL		0.393	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf93	protein_coding	OTTHUMT00000051768.4	G	NM_173550		15734617	1	no_errors	NM_173550.2	genbank	human	predicted	54_36p	missense	SNP	0.887	A	A	15744617	G	A	15744617	3	1	96	1	0	0	0	0	1	0	0	0	2506	1145	40	1	2458	1	C9orf93	9	15744617	Missense_Mutation	SNP	G	TCGA-AB-2904-03A-01W-0732-08		15744617	125468814	14	1033											
CSTF2T	23283	genome.wustl.edu	37	10	53458696	53458696	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr10:53458696G>T	ENST00000331173.4	-	1	659	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	205					mRNA processing (GO:0006397)	intracellular (GO:0005622)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		CACAGACTGAGATTTGCCTGG	0.537																																						dbGAP											0			10											97	85	89					10																	53458696		2203	4300	6503	53128702	SO:0001583	missense	0			AB014589	CCDS7245.1	10q11	2013-02-12			ENSG00000177613	ENSG00000177613		"RNA binding motif (RRM) containing"	17086	protein-coding gene	gene with protein product		611968				12408968, 11113135	Standard	NM_015235		Approved	DKFZp434C1013, KIAA0689, CstF-64T	uc001jjp.3	Q9H0L4	OTTHUMG00000018246	ENST00000331173.4:c.614C>A	10.37:g.53458696G>T	ENSP00000332444:p.Ser205Tyr	101	0.98	1		17	34.62	9	53128702	137	36.57	79	B2RAR9|O75174|Q53HK6|Q7LGE8|Q8N6T1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.S205Y	ENST00000331173.4	37	c.614	CCDS7245.1	10	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066984	0.55539	.	.	ENSG00000177613	ENST00000331173	T	0.21734	1.99	5.0	5.0	0.66597	.	0.440036	0.19899	N	0.103555	T	0.19805	0.0476	N	0.08118	0	0.31509	N	0.663881	D	0.56968	0.978	P	0.53722	0.733	T	0.05801	-1.0863	10	0.62326	D	0.03	-0.0141	14.0016	0.64437	0.0:0.0:1.0:0.0	.	205	Q9H0L4	CSTFT_HUMAN	Y	205	ENSP00000332444:S205Y	ENSP00000332444:S205Y	S	-	2	0	CSTF2T	53128702	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.251000	0.43187	2.766000	0.95052	0.655000	0.94253	TCT	-	NULL		0.537	CSTF2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2T	protein_coding	OTTHUMT00000048097.1	G	NM_015235		53128702	-1	no_errors	NM_015235.2	genbank	human	validated	54_36p	missense	SNP	0.993	T	T	53458696	G	T	53458696	3	4	96	1	0	0	0	0	1	0	0	0	3985	942	33	4	1240	4	CSTF2T	10	53458696	Missense_Mutation	SNP	G	TCGA-AB-2904-03A-01W-0732-08		53458696	82076051	15	1034											
DDX11	1663	genome.wustl.edu	37	12	31245812	31245812	+	Silent	SNP	C	C	T			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr12:31245812C>T	ENST00000407793.2	+	11	1526	c.1275C>T	c.(1273-1275)taC>taT	p.Y425Y	DDX11_ENST00000350437.4_Silent_p.Y425Y|DDX11_ENST00000545668.1_Silent_p.Y425Y|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.Y425Y|DDX11_ENST00000228264.6_Silent_p.Y399Y|DDX11_ENST00000539673.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	425	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGCTGCAGTACGTGGAGCGAT	0.587										Multiple Myeloma(12;0.14)																												dbGAP											0			12											102	94	97					12																	31245812		2203	4300	6503	31137079	SO:0001819	synonymous_variant	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"DEAD-boxes"	2736	protein-coding gene	gene with protein product	"CHL1-like helicase homolog (S. cerevisiae)"	601150	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)", "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1275C>T	12.37:g.31245812C>T		61	0	0		53	25.35	18	31137079	72	38.98	46	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	HMMSmart_SM00488,HMMSmart_SM00491,HMMPfam_DEAD_2,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Y425	ENST00000407793.2	37	c.1275	CCDS44856.1	12																																																																																			-	HMMSmart_SM00488		0.587	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	protein_coding	OTTHUMT00000399728.1	C	NM_030653		31137079	1	no_errors	NM_152438.2	genbank	human	reviewed	54_36p	silent	SNP	0.997	T	T	31245812	C	T	31245812	2	4	96	1	0	0	0	0	0	0	0	1	4343	547	19	1		1	DDX11	12	31245812	Silent	SNP	C	TCGA-AB-2904-03A-01W-0732-08		31245812	102606083	16	1035											
SPG11	80208	genome.wustl.edu	37	15	44955823	44955823	+	Missense_Mutation	SNP	G	G	C	rs200939573		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr15:44955823G>C	ENST00000261866.7	-	1	39	c.23C>G	c.(22-24)gCg>gGg	p.A8G	SPG11_ENST00000535302.2_Missense_Mutation_p.A8G|SPG11_ENST00000558319.1_Missense_Mutation_p.A8G|SPG11_ENST00000427534.2_Missense_Mutation_p.A8G|SPG11_ENST00000559193.1_Missense_Mutation_p.A8G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	8					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AGCAGCACTCGCGACCCCTTC	0.687													G|||	1	0.000199681	0	0	5008	,	,		15637	0.001		0	False		,,,				2504	0					dbGAP											0			15											7	9	8					15																	44955823		2101	4178	6279	42743115	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"spatacsin"	610844	"KIAA1840"	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.23C>G	15.37:g.44955823G>C	ENSP00000261866:p.Ala8Gly	17	0	0		5	64.29	9	42743115	45	20.69	12	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	PatternScan_GLYCOSYL_HYDROL_F1_1	p.A8G	ENST00000261866.7	37	c.23	CCDS10112.1	15	3	0.0013736263736263737	2	0.0040650406504065045	0	0.0	1	0.0017482517482517483	0	0.0	G	3.883	-0.025632	0.07589	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.75367	-0.93;-0.66;-0.68	5.53	1.56	0.23342	.	0.934142	0.08960	N	0.868891	T	0.37972	0.1023	N	0.00583	-1.355	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.24476	-1.0159	10	0.02654	T	1	.	10.4812	0.44695	0.1412:0.4428:0.416:0.0	.	8;8;8;8	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	G	8	ENSP00000261866:A8G;ENSP00000445278:A8G;ENSP00000396110:A8G	ENSP00000261866:A8G	A	-	2	0	SPG11	42743115	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.012000	0.13287	0.046000	0.15833	-2.042000	0.00416	GCG	-	NULL		0.687	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	protein_coding	OTTHUMT00000253927.1	G			42743115	-1	no_errors	NM_025137.3	genbank	human	reviewed	54_36p	missense	SNP	0.021	C	C	44955823	G	C	44955823	3	2	96	1	0	0	0	0	1	0	0	0	15040	1087	38	4	7468	4	SPG11	15	44955823	Missense_Mutation	SNP	G	TCGA-AB-2904-03A-01W-0732-08		44955823	57575569	17	1036											
PRPF8	10594	genome.wustl.edu	37	17	1580392	1580392	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr17:1580392C>G	ENST00000572621.1	-	14	2324	c.2059G>C	c.(2059-2061)Gca>Cca	p.A687P	PRPF8_ENST00000304992.6_Missense_Mutation_p.A687P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	687					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATCACAGCTGCCCGCAGCTCA	0.547																																						dbGAP											0			17											162	133	143					17																	1580392		2203	4300	6503	1527142	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2059G>C	17.37:g.1580392C>G	ENSP00000460348:p.Ala687Pro	117	0	0		17	85.71	102	1527142	30	56.94	41	O14547|O75965	Missense_Mutation	SNP	HMMPfam_Mov34,HMMSmart_SM00232,HMMPfam_PRO8NT,HMMPfam_PROCN,HMMPfam_PROCT,HMMPfam_U6-snRNA_bdg,HMMPfam_U5_2-snRNA_bdg,HMMPfam_RRM_4	p.A687P	ENST00000572621.1	37	c.2059	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	C	21.0	4.081868	0.76528	.	.	ENSG00000174231	ENST00000304992	D	0.81821	-1.54	5.94	5.94	0.96194	PROCN (1);	0.000000	0.85682	D	0.000000	D	0.93109	0.7806	H	0.94385	3.53	0.80722	D	1	D	0.67145	0.996	D	0.76575	0.988	D	0.93978	0.7255	10	0.72032	D	0.01	-15.6891	20.3594	0.98849	0.0:1.0:0.0:0.0	.	687	Q6P2Q9	PRP8_HUMAN	P	687	ENSP00000304350:A687P	ENSP00000304350:A687P	A	-	1	0	PRPF8	1527142	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.784000	0.85713	2.816000	0.96949	0.563000	0.77884	GCA	-	HMMPfam_PROCN		0.547	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	protein_coding	OTTHUMT00000438412.2	C			1527142	-1	no_errors	NM_006445.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	1580392	C	G	1580392	3	3	96	1	0	0	0	0	1	0	0	0	12575	739	26	4	5064	4	PRPF8	17	1580392	Missense_Mutation	SNP	C	TCGA-AB-2904-03A-01W-0732-08		1580392	79614818	18	1037											
TP53	7157	genome.wustl.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	rs587782529		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9452042}.|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11481490}.|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATCTCGAAGCGCTCACGCCCA	0.522		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	17	GRCh37	CM981929	TP53	M							56	44	48					17																	7574018		2203	4300	6503	7514743	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	104	0	0		5	94.49	120	7514743	63	64.8	116	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.R337C	ENST00000269305.4	37	c.1009	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC	-	HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7514743	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	0.465	A	A	7574018	G	A	7574018	3	1	96	1	0	0	0	0	1	0	0	0	16378	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-AB-2904-03A-01W-0732-08	5993626	7574018	73621192	19	1038											
KRT19	3880	genome.wustl.edu	37	17	39681182	39681182	+	Silent	SNP	A	A	G			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr17:39681182A>G	ENST00000361566.3	-	3	633	c.573T>C	c.(571-573)gaT>gaC	p.D191D	KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	191	Coil 1B.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GGGTCAGCTCATCCAGCACCC	0.577																																						dbGAP											0			17											117	122	120					17																	39681182		2203	4300	6503	36934708	SO:0001819	synonymous_variant	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.573T>C	17.37:g.39681182A>G		29	0	0					36934708	35	32.08	17	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Silent	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.D191	ENST00000361566.3	37	c.573	CCDS11399.1	17																																																																																			-	superfamily_Prefoldin,HMMPfam_Filament		0.577	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	protein_coding	OTTHUMT00000257285.1	A	NM_002276		36934708	-1	no_errors	NM_002276.4	genbank	human	reviewed	54_36p	silent	SNP	0.633	G	G	39681182	A	G	39681182	2	3	96	1	0	0	0	0	0	0	0	1	8456	214	8	3		3	KRT19	17	39681182	Silent	SNP	A	TCGA-AB-2904-03A-01W-0732-08	32107164	39681182	41514028	20	1039											
CACNA1G	8913	genome.wustl.edu	37	17	48673940	48673940	+	Silent	SNP	C	C	T	rs202154530		TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr17:48673940C>T	ENST00000359106.5	+	15	2997	c.2997C>T	c.(2995-2997)tcC>tcT	p.S999S	CACNA1G_ENST00000515165.1_Silent_p.S999S|CACNA1G_ENST00000352832.5_Silent_p.S976S|CACNA1G_ENST00000358244.5_Silent_p.S976S|CACNA1G_ENST00000360761.4_Silent_p.S976S|CACNA1G_ENST00000505165.1_Silent_p.S999S|CACNA1G_ENST00000442258.2_Silent_p.S976S|CACNA1G_ENST00000416767.4_Silent_p.S999S|CACNA1G_ENST00000510366.1_Silent_p.S999S|CACNA1G_ENST00000514181.1_Silent_p.S999S|CACNA1G_ENST00000512389.1_Silent_p.S999S|CACNA1G_ENST00000354983.4_Silent_p.S976S|CACNA1G_ENST00000507336.1_Silent_p.S999S|CACNA1G_ENST00000515411.1_Silent_p.S999S|CACNA1G_ENST00000507510.2_Silent_p.S999S|CACNA1G_ENST00000502264.1_Silent_p.S976S|CACNA1G_ENST00000515765.1_Silent_p.S999S|CACNA1G_ENST00000507896.1_Silent_p.S999S|CACNA1G_ENST00000514717.1_Silent_p.S976S|CACNA1G_ENST00000510115.1_Silent_p.S976S|CACNA1G_ENST00000514079.1_Silent_p.S999S|CACNA1G_ENST00000429973.2_Silent_p.S999S|CACNA1G_ENST00000513964.1_Silent_p.S999S|CACNA1G_ENST00000507609.1_Silent_p.S999S|CACNA1G_ENST00000503485.1_Silent_p.S999S|CACNA1G_ENST00000513689.2_Silent_p.S999S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	999					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAACAAGTCCGAATCAGAGC	0.597																																						dbGAP											0			17											90	97	95					17																	48673940		2098	4211	6309	46028939	SO:0001819	synonymous_variant	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2997C>T	17.37:g.48673940C>T		50	0	0					46028939	82	30.25	36	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels	p.S999	ENST00000359106.5	37	c.2997	CCDS45730.1	17																																																																																			-	NULL		0.597	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	protein_coding	OTTHUMT00000367895.1	C	NM_018896		46028939	1	no_errors	NM_018896.3	genbank	human	validated	54_36p	silent	SNP	0.579	T	T	48673940	C	T	48673940	2	4	96	1	0	0	0	0	0	0	0	1	2544	639	23	1		1	CACNA1G	17	48673940	Silent	SNP	C	TCGA-AB-2904-03A-01W-0732-08	8992758	48673940	32521270	21	1040											
MUC16	94025	genome.wustl.edu	37	19	9076508	9076508	+	Silent	SNP	G	G	A			TCGA-AB-2904-03A-01W-0732-08	TCGA-AB-2904-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	13a3cb00-5cd7-4a71-a838-58ff943316a2	d4015d83-cbbf-4411-bd2d-3125cb0de849	g.chr19:9076508G>A	ENST00000397910.4	-	3	11141	c.10938C>T	c.(10936-10938)tcC>tcT	p.S3646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3647	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGCATCAGAGGATGGAGTGA	0.453																																						dbGAP											0			19											101	105	103					19																	9076508		1988	4163	6151	8937508	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10938C>T	19.37:g.9076508G>A		293	0.34	1					8937508	322	36.97	193	Q6ZQW5|Q96RK2	Silent	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain	p.S3646	ENST00000397910.4	37	c.10938	CCDS54212.1	19																																																																																			-	NULL		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690		8937508	-1	no_errors	NM_024690.2	genbank	human	validated	54_36p	silent	SNP	0.000	A	A	9076508	G	A	9076508	2	1	96	1	0	0	0	0	0	0	0	1	9973	987	35	2		2	MUC16	19	9076508	Silent	SNP	G	TCGA-AB-2904-03A-01W-0732-08		9076508	50052475	22	1041											
C1orf168	199920	genome.wustl.edu	37	1	57254703	57254703	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr1:57254703C>T	ENST00000343433.6	-	3	942	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	288								p.V288M(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGGAGGTTCACGATGGGAGGT	0.577																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											148	135	139					1																	57254703		2203	4300	6503	57027291	SO:0001583	missense	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.862G>A	1.37:g.57254703C>T	ENSP00000345972:p.Val288Met	1447	0.34	5					57027291	661	31.58	306	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3-domain	p.V288M	ENST00000343433.6	37	c.862	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	c	13.01	2.109771	0.37242	.	.	ENSG00000187889	ENST00000343433	T	0.47177	0.85	5.4	4.49	0.54785	.	0.113633	0.38663	N	0.001607	T	0.55016	0.1894	L	0.34521	1.04	0.26250	N	0.978747	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.47394	-0.9121	10	0.62326	D	0.03	-7.1295	10.1701	0.42904	0.0:0.9108:0.0:0.0892	.	288;288	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	M	288	ENSP00000345972:V288M	ENSP00000345972:V288M	V	-	1	0	C1orf168	57027291	0.954000	0.32549	0.800000	0.32199	0.037000	0.13140	2.300000	0.43620	1.531000	0.49152	-0.119000	0.15052	GTG	-	NULL		0.577	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	protein_coding	OTTHUMT00000022751.2	C	NM_001004303		57027291	-1	no_errors	NM_001004303.4	genbank	human	validated	54_36p	missense	SNP	0.410	T	T	57254703	C	T	57254703	3	4	97	1	0	0	0	0	1	0	0	0	2012	536	19	1	1396	1	C1orf168	1	57254703	Missense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09		57254703	191995918	1	1042											
PAPPA2	60676	genome.wustl.edu	37	1	176759024	176759024	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr1:176759024C>T	ENST00000367662.3	+	18	5959	c.4795C>T	c.(4795-4797)Cct>Tct	p.P1599S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1599	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P1599S(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGAGCCACCCCCTCCTGTGTT	0.478																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											126	127	126					1																	176759024		2012	4168	6180	175025647	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"placenta-specific 3"	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4795C>T	1.37:g.176759024C>T	ENSP00000356634:p.Pro1599Ser	1924	0.05	1					175025647	1086	32.48	523	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Notch,HMMSmart_SM00004,superfamily_Notch domain,PatternScan_N6_MTASE,PatternScan_ZINC_PROTEASE,HMMSmart_SM00560,HMMPfam_Peptidase_M43,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Complement control module/SCR domain,superfamily_Metalloproteases ("zincins") catalytic domain	p.P1599S	ENST00000367662.3	37	c.4795	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	9.066	0.995683	0.19043	.	.	ENSG00000116183	ENST00000367662	T	0.01963	4.53	5.51	0.234	0.15390	Complement control module (1);Sushi/SCR/CCP (2);	0.186704	0.45867	N	0.000321	T	0.01489	0.0048	N	0.20530	0.585	0.53005	D	0.999968	B	0.20368	0.044	B	0.20767	0.031	T	0.56715	-0.7933	10	0.34782	T	0.22	-5.1636	4.5672	0.12193	0.0:0.2664:0.3064:0.4272	.	1599	Q9BXP8	PAPP2_HUMAN	S	1599	ENSP00000356634:P1599S	ENSP00000356634:P1599S	P	+	1	0	PAPPA2	175025647	0.036000	0.19791	0.732000	0.30844	0.778000	0.44026	-0.006000	0.12833	0.062000	0.16340	-0.484000	0.04775	CCT	-	HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	protein_coding	OTTHUMT00000084763.1	C			175025647	1	no_errors	NM_020318.2	genbank	human	validated	54_36p	missense	SNP	0.691	T	T	176759024	C	T	176759024	3	4	97	1	0	0	0	0	1	0	0	0	11433	623	22	2	4914	2	PAPPA2	1	176759024	Missense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09	119504321	176759024	72491597	2	1043											
NAV1	89796	genome.wustl.edu	37	1	201777192	201777192	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr1:201777192C>G	ENST00000367296.4	+	18	4180	c.3760C>G	c.(3760-3762)Ccc>Gcc	p.P1254A	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.P1246A|NAV1_ENST00000367302.1_Missense_Mutation_p.P1207A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.P1251A|NAV1_ENST00000367300.3_Missense_Mutation_p.P1194A|NAV1_ENST00000367295.1_Missense_Mutation_p.P860A	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1254					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P1251A(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCCTCATCCCCCAAACTACA	0.517																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											135	134	134					1																	201777192		2203	4300	6503	200043815	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3760C>G	1.37:g.201777192C>G	ENSP00000356265:p.Pro1254Ala	1948	0	0					200043815	728	31.71	339	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540	p.P1251A	ENST00000367296.4	37	c.3751	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	c	20.5	4.005888	0.74932	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.96741	0.8936	M	0.76838	2.35	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.97130	0.9817	10	0.87932	D	0	-35.5464	18.8431	0.92192	0.0:1.0:0.0:0.0	.	860;1251	Q8NEY1-5;Q8NEY1-3	.;.	A	1207;1254;1251;1246;1194;860	ENSP00000356271:P1207A;ENSP00000356265:P1254A;ENSP00000295624:P1251A;ENSP00000356266:P1246A;ENSP00000356269:P1194A;ENSP00000356264:P860A	ENSP00000295624:P1251A	P	+	1	0	NAV1	200043815	1.000000	0.71417	1.000000	0.80357	0.256000	0.26092	7.809000	0.86057	2.538000	0.85594	0.552000	0.68991	CCC	-	NULL		0.517	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	protein_coding	OTTHUMT00000087013.1	C	NM_020443		200043815	1	no_errors	NM_020443.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	201777192	C	G	201777192	3	3	97	1	0	0	0	0	1	0	0	0	10183	623	22	4	3887	4	NAV1	1	201777192	Missense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09	25018168	201777192	47473429	3	1044											
ABCG8	64241	genome.wustl.edu	37	2	44079555	44079555	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr2:44079555G>A	ENST00000272286.2	+	5	714	c.624G>A	c.(622-624)atG>atA	p.M208I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	208	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.M208I(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGGGCAACATGTACGTGCGGG	0.672																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											35	39	37					2																	44079555		2203	4300	6503	43933059	SO:0001583	missense	0			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"ATP binding cassette transporters / subfamily G"	13887	protein-coding gene	gene with protein product	"gallbladder disease 4", "sterolin 2"	605460	"ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.624G>A	2.37:g.44079555G>A	ENSP00000272286:p.Met208Ile	1027	0	0					43933059	620	37.06	365	Q53QN8	Missense_Mutation	SNP	HMMPfam_ABC_tran,HMMPfam_ABC2_membrane,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.M208I	ENST00000272286.2	37	c.624	CCDS1815.1	2	.	.	.	.	.	.	.	.	.	.	G	5.439	0.266079	0.10294	.	.	ENSG00000143921	ENST00000272286	T	0.41400	1.0	5.11	-3.24	0.05094	ABC transporter-like (2);	1.890310	0.02274	N	0.068726	T	0.18551	0.0445	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06552	-1.0820	10	0.36615	T	0.2	.	1.5089	0.02492	0.2018:0.3547:0.2333:0.2102	.	208;208	Q9H221-2;Q9H221	.;ABCG8_HUMAN	I	208	ENSP00000272286:M208I	ENSP00000272286:M208I	M	+	3	0	ABCG8	43933059	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.298000	0.08265	-0.815000	0.04346	0.561000	0.74099	ATG	-	HMMPfam_ABC_tran,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.672	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	protein_coding	OTTHUMT00000250671.1	G	NM_022437		43933059	1	no_errors	NM_022437.2	genbank	human	reviewed	54_36p	missense	SNP	0.069	A	A	44079555	G	A	44079555	3	1	97	1	0	0	0	0	1	0	0	0	72	1377	48	2	642	2	ABCG8	2	44079555	Missense_Mutation	SNP	G	TCGA-AB-2905-03A-01D-0739-09		44079555	199119818	4	1045											
IL1R1	3554	genome.wustl.edu	37	2	102793205	102793205	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr2:102793205G>A	ENST00000410023.1	+	12	2014	c.1696G>A	c.(1696-1698)Gtg>Atg	p.V566M	IL1R1_ENST00000409929.1_Missense_Mutation_p.V535M|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.V566M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_3'UTR			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	566					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)	p.V566M(2)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGAGGCTCACGTGCCTCTCGG	0.522																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	2											80	81	81					2																	102793205		2202	4300	6502	102159637	SO:0001583	missense	0			M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"Interleukins and interleukin receptors", "CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1696G>A	2.37:g.102793205G>A	ENSP00000386380:p.Val566Met	1704	0.06	1					102159637	985	32.67	478	Q587I7	Missense_Mutation	SNP	HMMPfam_TIR,HMMSmart_SM00255,superfamily_Toll/Interleukin receptor TIR domain,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin	p.V566M	ENST00000410023.1	37	c.1696	CCDS2055.1	2	.	.	.	.	.	.	.	.	.	.	G	9.782	1.175469	0.21704	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.02345	4.33;4.35;4.35	5.52	-4.89	0.03103	.	3.314520	0.00520	N	0.000189	T	0.02807	0.0084	L	0.44542	1.39	0.09310	N	1	B;B	0.19073	0.033;0.009	B;B	0.08055	0.003;0.003	T	0.43065	-0.9414	10	0.49607	T	0.09	.	1.2151	0.01913	0.3211:0.2862:0.2584:0.1343	.	535;566	B8ZZW4;P14778	.;IL1R1_HUMAN	M	535;566;566	ENSP00000386776:V535M;ENSP00000386380:V566M;ENSP00000233946:V566M	ENSP00000233946:V566M	V	+	1	0	IL1R1	102159637	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-0.679000	0.05203	-0.923000	0.03785	-1.289000	0.01358	GTG	-	NULL		0.522	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1R1	protein_coding	OTTHUMT00000253299.1	G			102159637	1	no_errors	NM_000877.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	A	A	102793205	G	A	102793205	3	1	97	1	0	0	0	0	1	0	0	0	7658	1145	40	1	1734	1	IL1R1	2	102793205	Missense_Mutation	SNP	G	TCGA-AB-2905-03A-01D-0739-09	58713650	102793205	140406168	5	1046											
LRP1B	53353	genome.wustl.edu	37	2	141083356	141083356	+	Silent	SNP	T	T	C			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr2:141083356T>C	ENST00000389484.3	-	80	13286	c.12315A>G	c.(12313-12315)tcA>tcG	p.S4105S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4105					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S4105S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGAGACTACTGAATTAGAGC	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											111	100	103					2																	141083356		2203	4300	6503	140799826	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"Low density lipoprotein receptors"	6693	protein-coding gene	gene with protein product	"LRP-deleted in tumors"	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12315A>G	2.37:g.141083356T>C		1711	0.12	2					140799826	1223	28.69	492	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	HMMPfam_Ldl_recept_b,HMMSmart_LY,PatternScan_ASX_HYDROXYL,HMMPfam_NHL,HMMSmart_EGF_CA,HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_SSF57196,superfamily_SSF63825	p.S4105	ENST00000389484.3	37	c.12315	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	T	0.080	-1.186285	0.01620	.	.	ENSG00000168702	ENST00000437977	.	.	.	5.13	-2.66	0.06077	.	.	.	.	.	T	0.28433	0.0703	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.33369	-0.9871	4	.	.	.	.	6.8077	0.23786	0.3477:0.0:0.3577:0.2946	.	.	.	.	R	337	.	.	Q	-	2	0	LRP1B	140799826	0.884000	0.30299	0.000000	0.03702	0.007000	0.05969	-0.107000	0.10873	-0.337000	0.08426	-0.438000	0.05819	CAG	-	HMMPfam_Ldl_recept_b,HMMSmart_LY,superfamily_SSF63825		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	T	NM_018557		140799826	-1	no_errors	NM_018557.2	genbank	human	validated	54_36p	silent	SNP	0.934	C	C	141083356	T	C	141083356	2	2	97	1	0	0	0	0	0	0	0	1	8955	1567	55	3		3	LRP1B	2	141083356	Silent	SNP	T	TCGA-AB-2905-03A-01D-0739-09	38290151	141083356	102116017	6	1047											
UGT1A10	54575	genome.wustl.edu	37	2	234545658	234545658	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr2:234545658C>T	ENST00000344644.5	+	1	559	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.P164S	NM_019075.2	NP_061948.1	Q9HAW8	UD110_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A10	164					cellular glucuronidation (GO:0052695)|flavone metabolic process (GO:0051552)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)	p.P164S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)	Acetaminophen(DB00316)|Etodolac(DB00749)|Losartan(DB00678)|Mycophenolate mofetil(DB00688)|Valproic Acid(DB00313)	TTTCTCCCTCCCCTCTGTGGT	0.433																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											138	144	142					2																	234545658		2203	4300	6503	234210397	SO:0001583	missense	0			U39550	CCDS33403.1	2q37	2010-03-05	2005-07-20		ENSG00000242515	ENSG00000242515		"UDP glucuronosyltransferases"	12531	other	complex locus constituent		606435	"UDP glycosyltransferase 1 family, polypeptide A10"			9295054, 9325166	Standard	NM_019075		Approved	UGT1J		Q9HAW8	OTTHUMG00000059121	ENST00000344644.5:c.490C>T	2.37:g.234545658C>T	ENSP00000343838:p.Pro164Ser	420	0.24	1					234210397	400	30.56	176	O00474|Q6NT91|Q7Z6H8	Missense_Mutation	SNP	HMMPfam_UDPGT,PatternScan_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase	p.P164S	ENST00000344644.5	37	c.490	CCDS33403.1	2	.	.	.	.	.	.	.	.	.	.	C	16.11	3.029325	0.54790	.	.	ENSG00000242515	ENST00000344644;ENST00000373445	T;T	0.74002	-0.8;-0.8	3.52	3.52	0.40303	.	.	.	.	.	D	0.89136	0.6629	M	0.93375	3.41	0.40420	D	0.979832	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92840	0.6288	9	0.87932	D	0	.	15.6441	0.77033	0.0:1.0:0.0:0.0	.	164;164	Q9HAW8;Q7Z6H8	UD110_HUMAN;.	S	164	ENSP00000343838:P164S;ENSP00000362544:P164S	ENSP00000343838:P164S	P	+	1	0	UGT1A10	234210397	1.000000	0.71417	0.583000	0.28640	0.551000	0.35334	7.548000	0.82154	1.997000	0.58415	0.405000	0.27470	CCC	-	HMMPfam_UDPGT,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase		0.433	UGT1A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT1A10	protein_coding	OTTHUMT00000130986.1	C	NM_019075		234210397	1	no_errors	NM_019075.2	genbank	human	reviewed	54_36p	missense	SNP	0.874	T	T	234545658	C	T	234545658	3	4	97	1	0	0	0	0	1	0	0	0	16942	623	22	2	492	2	UGT1A10	2	234545658	Missense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09	93462302	234545658	8653715	7	1048											
FAM19A4	151647	genome.wustl.edu	37	3	68802037	68802037	+	Missense_Mutation	SNP	C	C	T	rs148065010		TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr3:68802037C>T	ENST00000295569.7	-	4	755	c.263G>A	c.(262-264)cGg>cAg	p.R88Q		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	88						extracellular region (GO:0005576)		p.R88Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AGGTTGAGCCCGAGTTGTGCC	0.522																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3						C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	88	80	82		263,263	4.6	1	3	dbSNP_134	82	0,8600		0,0,4300	no	missense,missense	FAM19A4	NM_001005527.1,NM_182522.3	43,43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	88/141,88/141	68802037	1,13005	2203	4300	6503	68884727	SO:0001583	missense	0			AY325117	CCDS2907.1	3p14.1	2014-08-14			ENSG00000163377	ENSG00000163377			21591	protein-coding gene	gene with protein product						15028294, 25109685	Standard	NM_182522		Approved	TAFA-4	uc021xah.1	Q96LR4	OTTHUMG00000158744	ENST00000295569.7:c.263G>A	3.37:g.68802037C>T	ENSP00000295569:p.Arg88Gln	1486	0	0					68884727	911	32.42	438	A8MVT2	Missense_Mutation	SNP	NULL	p.R88Q	ENST00000295569.7	37	c.263	CCDS2907.1	3	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786908	0.70337	2.27E-4	0.0	ENSG00000163377	ENST00000295569	.	.	.	5.46	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.72894	2.215	0.38512	D	0.948503	B	0.30605	0.287	B	0.42138	0.377	T	0.73987	-0.3809	9	0.66056	D	0.02	-17.9842	14.5115	0.67791	0.0:0.9286:0.0:0.0714	.	88	Q96LR4	F19A4_HUMAN	Q	88	.	ENSP00000295569:R88Q	R	-	2	0	FAM19A4	68884727	0.946000	0.32159	0.999000	0.59377	0.337000	0.28794	4.906000	0.63293	1.274000	0.44362	0.591000	0.81541	CGG	-	NULL		0.522	FAM19A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A4	protein_coding	OTTHUMT00000352002.1	C	NM_182522		68884727	-1	no_errors	NM_001005527.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	68802037	C	T	68802037	3	4	97	1	0	0	0	0	1	0	0	0	5534	652	23	1	171	1	FAM19A4	3	68802037	Missense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09		68802037	129220393	8	1049											
MGLL	11343	genome.wustl.edu	37	3	127414007	127414007	+	Silent	SNP	C	C	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr3:127414007C>T	ENST00000434178.2	-	7	1493	c.597G>A	c.(595-597)ctG>ctA	p.L199L	MGLL_ENST00000453507.2_Silent_p.L179L|MGLL_ENST00000398101.3_Silent_p.L173L|MGLL_ENST00000398104.1_Silent_p.L199L|MGLL_ENST00000265052.5_Silent_p.L209L|MGLL_ENST00000476682.1_5'UTR			Q99685	MGLL_HUMAN	monoglyceride lipase	199					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)	p.L199L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CCCGGCAGATCAGGGGGTCTG	0.592																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											42	47	45					3																	127414007		2021	4180	6201	128896697	SO:0001819	synonymous_variant	0			BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.597G>A	3.37:g.127414007C>T		768	0	0					128896697	414	30.3	180	B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Silent	SNP	HMMPfam_Abhydrolase_1,PatternScan_LIPASE_SER,superfamily_SSF53474	p.L209	ENST00000434178.2	37	c.627	CCDS43148.1	3																																																																																			-	HMMPfam_Abhydrolase_1,superfamily_SSF53474		0.592	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGLL	protein_coding	OTTHUMT00000356637.2	C	NM_007283		128896697	-1	no_errors	NM_007283.1	genbank	human	validated	54_36p	silent	SNP	0.991	T	T	127414007	C	T	127414007	2	4	97	1	0	0	0	0	0	0	0	1	9556	813	29	2		2	MGLL	3	127414007	Silent	SNP	C	TCGA-AB-2905-03A-01D-0739-09	58611970	127414007	70608423	9	1050											
PLRG1	5356	genome.wustl.edu	37	4	155458482	155458482	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr4:155458482C>T	ENST00000499023.2	-	14	1567	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K	PLRG1_ENST00000302078.5_Missense_Mutation_p.E472K|PLRG1_ENST00000393905.2_Missense_Mutation_p.E481K	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	481					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.E481K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				TTATCAGCTTCAGCTGTTAGT	0.408																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											110	108	108					4																	155458482		2203	4300	6503	155677932	SO:0001583	missense	0			AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"WD repeat domain containing"	9089	protein-coding gene	gene with protein product	"transport and golgi organization 4 homolog (Drosophila)"	605961	"pleiotropic regulator 1 (PRL1, Arabidopsis homolog)", "pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.1441G>A	4.37:g.155458482C>T	ENSP00000424417:p.Glu481Lys	1182	0.34	4					155677932	688	32.28	328	B3KMK4|Q3KQY5|Q8WUD8	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.E481K	ENST00000499023.2	37	c.1441	CCDS34083.1	4	.	.	.	.	.	.	.	.	.	.	C	35	5.560531	0.96527	.	.	ENSG00000171566	ENST00000499023;ENST00000393905;ENST00000302078	T;T;T	0.81078	-1.45;-1.45;-1.45	5.59	5.59	0.84812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.176286	0.64402	D	0.000010	D	0.93171	0.7825	H	0.95187	3.635	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.964;0.995	D	0.94538	0.7742	10	0.66056	D	0.02	-32.0772	19.5896	0.95503	0.0:1.0:0.0:0.0	.	472;481	O43660-2;O43660	.;PLRG1_HUMAN	K	481;481;472	ENSP00000424417:E481K;ENSP00000377483:E481K;ENSP00000303191:E472K	ENSP00000303191:E472K	E	-	1	0	PLRG1	155677932	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.818000	0.86416	2.632000	0.89209	0.585000	0.79938	GAA	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.408	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLRG1	protein_coding	OTTHUMT00000364824.1	C	NM_002669		155677932	-1	no_errors	NM_002669.2	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	155458482	C	T	155458482	3	4	97	1	0	0	0	0	1	0	0	0	12106	835	29	2	111	2	PLRG1	4	155458482	Missense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09		155458482	35695794	10	1051											
SLC26A2	1836	genome.wustl.edu	37	5	149357812	149357812	+	Silent	SNP	T	T	C			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr5:149357812T>C	ENST00000286298.4	+	2	865	c.597T>C	c.(595-597)aaT>aaC	p.N199N		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	199					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|ossification (GO:0001503)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)	p.N199N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGGTTTCAAATGGGAGCACAT	0.413																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	5											138	128	131					5																	149357812		2203	4300	6503	149338005	SO:0001819	synonymous_variant	0			U14528	CCDS4300.1	5q31-q34	2014-09-17	2013-07-18		ENSG00000155850	ENSG00000155850		"Solute carriers"	10994	protein-coding gene	gene with protein product		606718	"solute carrier family 26 (sulfate transporter), member 2"	DTD		7923357	Standard	NM_000112		Approved	DTDST	uc003lrh.3	P50443	OTTHUMG00000130054	ENST00000286298.4:c.597T>C	5.37:g.149357812T>C		1500	0	0					149338005	675	30.98	303	A8K2U3|B2R6J1|Q6N051	Silent	SNP	HMMPfam_STAS,superfamily_STAS,HMMPfam_Sulfate_transp,PatternScan_SLC26A	p.N199	ENST00000286298.4	37	c.597	CCDS4300.1	5																																																																																			-	NULL		0.413	SLC26A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A2	protein_coding	OTTHUMT00000252333.2	T	NM_000112		149338005	1	no_errors	NM_000112.3	genbank	human	reviewed	54_36p	silent	SNP	0.008	C	C	149357812	T	C	149357812	2	2	97	1	0	0	0	0	0	0	0	1	14517	1461	51	3		3	SLC26A2	5	149357812	Silent	SNP	T	TCGA-AB-2905-03A-01D-0739-09		149357812	31557448	11	1052											
CSMD1	64478	genome.wustl.edu	37	8	3000053	3000053	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr8:3000053delC	ENST00000520002.1	-	42	6733	c.6178delG	c.(6178-6180)gaafs	p.E2060fs	CSMD1_ENST00000602557.1_Frame_Shift_Del_p.E2060fs|CSMD1_ENST00000400186.3_Frame_Shift_Del_p.E2060fs|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Frame_Shift_Del_p.E2059fs|CSMD1_ENST00000537824.1_Frame_Shift_Del_p.E2059fs|CSMD1_ENST00000602723.1_Frame_Shift_Del_p.E2060fs|CSMD1_ENST00000542608.1_Frame_Shift_Del_p.E2059fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2060	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.E1788fs*40(1)|p.E2059fs*40(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGAGGGTTTCATGCGTTGTG	0.478																																						dbGAP											2	Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)	8											98	102	101					8																	3000053		1977	4163	6140	2987460	SO:0001589	frameshift_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6178delG	8.37:g.3000053delC	ENSP00000430733:p.Glu2060fs	709	0	0					2987460	374	30.23	169	Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain	p.N2061fs	ENST00000520002.1	37	c.6179		8																																																																																			-	NULL		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	C	NM_033225		2987460	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033225.4	genbank	human	validated	54_36p	frame_shift_del	DEL	0.975	-	-	3000053	C	-	3000053	7	5	97	1	0	1	0	1	0	0	0	0	3944	835	29	0	4639	0	CSMD1	8	3000053	Frame_Shift_Del	DEL	C	TCGA-AB-2905-03A-01D-0739-09		3000053	143363969	12	1053											
WT1	7490	genome.wustl.edu	37	11	32417922	32417923	+	Frame_Shift_Ins	INS	-	-	TCGGGGCTAC			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	-	-	-	TCGGGGCTAC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr11:32417922_32417923insTCGGGGCTAC	ENST00000379079.2	-	7	766_767	c.493_494insGTAGCCCCGA	c.(493-495)actfs	p.T165fs	WT1_ENST00000530998.1_Frame_Shift_Ins_p.T148fs|WT1_ENST00000448076.3_Frame_Shift_Ins_p.T377fs|WT1_ENST00000332351.3_Frame_Shift_Ins_p.T377fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	309					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T309fs*71(3)|p.T309fs*9(2)|p.T309fs*75(2)|p.L310fs*9(2)|p.L310fs*73(2)|p.T309fs*12(2)|p.R301fs*3(1)|p.A307fs*69(1)|p.P308fs*67(1)|p.A307fs*70(1)|p.T309fs*5(1)|p.T309fs*4(1)|p.?fs(1)|p.V300fs*6(1)|p.R301fs*73(1)|p.T309fs*74(1)|p.T309fs*73(1)|p.P308fs*9(1)|p.R302fs*12(1)|p.T309fs*11(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCGTACAAGAGTCGGGGCTACT	0.52			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	27	Insertion - Frameshift(12)|Deletion - Frameshift(8)|Complex - frameshift(7)	haematopoietic_and_lymphoid_tissue(24)|kidney(3)	11																																								32374499	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.484_493dupGTAGCCCCGA	11.37:g.32417923_32417932dupTCGGGGCTAC	ENSP00000368370:p.Thr165fs								32374498				A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.T377fs	ENST00000379079.2	37	c.1130_1129	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.52	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374499	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.991:0.888	TCGGGGCTAC	TCGGGGCTAC	32417923	-	TCGGGGCTAC	32417922	7	5	97	1	0	1	1	0	0	0	0	0	17405	1029	36	0	439	0	WT1	11	32417922	Frame_Shift_Ins	INS	-	TCGA-AB-2905-03A-01D-0739-09		32417922	102588594	13	1054											
LRP4	4038	genome.wustl.edu	37	11	46905472	46905472	+	Silent	SNP	G	G	A			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr11:46905472G>A	ENST00000378623.1	-	19	2804	c.2562C>T	c.(2560-2562)atC>atT	p.I854I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	854					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.I854I(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GGTTCTCCCAGATGAGTACTG	0.512																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	11											284	218	240					11																	46905472		2201	4299	6500	46862048	SO:0001819	synonymous_variant	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"Low density lipoprotein receptors"	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2562C>T	11.37:g.46905472G>A		1651	0	0					46862048	826	29.57	348	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	HMMPfam_Ldl_recept_b,HMMSmart_SM00135,PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_YWTD domain	p.I854	ENST00000378623.1	37	c.2562	CCDS31478.1	11																																																																																			-	HMMPfam_Ldl_recept_b,HMMSmart_SM00135,superfamily_YWTD domain		0.512	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	protein_coding	OTTHUMT00000391133.1	G	NM_002334		46862048	-1	no_errors	NM_002334.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	46905472	G	A	46905472	2	1	97	1	0	0	0	0	0	0	0	1	8959	932	33	2		2	LRP4	11	46905472	Silent	SNP	G	TCGA-AB-2905-03A-01D-0739-09	14487550	46905472	88101044	14	1055											
BICD1	636	genome.wustl.edu	37	12	32530523	32530523	+	Missense_Mutation	SNP	G	G	A	rs200603103		TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr12:32530523G>A	ENST00000281474.5	+	10	2993	c.2890G>A	c.(2890-2892)Gcc>Acc	p.A964T	BICD1_ENST00000548411.1_3'UTR	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	964					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.A964T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CTCCCAGTGCGCCCCTCTCCA	0.547																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											172	144	154					12																	32530523		2203	4300	6503	32421790	SO:0001583	missense	0			U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"Bicaudal D (Drosophila) homolog 1"			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2890G>A	12.37:g.32530523G>A	ENSP00000281474:p.Ala964Thr	758	0.26	2					32421790	430	32.87	211	A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	HMMPfam_BicD	p.A964T	ENST00000281474.5	37	c.2890	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950156	0.34377	.	.	ENSG00000151746	ENST00000281474	T	0.48836	0.8	5.16	1.21	0.21127	.	0.717749	0.12085	N	0.500956	T	0.23886	0.0578	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.04360	-1.0957	10	0.40728	T	0.16	.	5.0119	0.14317	0.2069:0.0:0.5391:0.254	.	964	Q96G01	BICD1_HUMAN	T	964	ENSP00000281474:A964T	ENSP00000281474:A964T	A	+	1	0	BICD1	32421790	1.000000	0.71417	0.601000	0.28877	0.974000	0.67602	2.240000	0.43088	-0.048000	0.13401	-0.225000	0.12378	GCC	-	NULL		0.547	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	protein_coding	OTTHUMT00000403380.1	G	NM_001714		32421790	1	no_errors	NM_001714.1	genbank	human	reviewed	54_36p	missense	SNP	0.995	A	A	32530523	G	A	32530523	3	1	97	1	0	0	0	0	1	0	0	0	1428	1087	38	1	2928	1	BICD1	12	32530523	Missense_Mutation	SNP	G	TCGA-AB-2905-03A-01D-0739-09		32530523	101321372	15	1056											
NOS1	4842	genome.wustl.edu	37	12	117669802	117669802	+	Missense_Mutation	SNP	C	C	T	rs372660293		TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr12:117669802C>T	ENST00000338101.4	-	22	3476	c.3472G>A	c.(3472-3474)Gag>Aag	p.E1158K	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.E1124K			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.E1124K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TTCTCCTTCTCGCTGGTAGCT	0.592																																					Esophageal Squamous(162;1748 2599 51982 52956)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12						C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4278		0,0,2139	48	54	52		3472,2362,2362,3370	4.4	0.9	12		52	1,8499		0,1,4249	no	missense,missense,missense,missense	NOS1	NM_001204218.1,NM_001204214.1,NM_001204213.1,NM_000620.4	56,56,56,56	0,1,6388	TT,TC,CC		0.0118,0.0,0.0078	benign,benign,benign,benign	1158/1469,788/1099,788/1099,1124/1435	117669802	1,12777	2139	4250	6389	116154185	SO:0001583	missense	0				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3472G>A	12.37:g.117669802C>T	ENSP00000337459:p.Glu1158Lys	1929	0.05	1					116154185	735	33.45	370		Missense_Mutation	SNP	HMMPfam_NAD_binding_1,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_FAD_binding_1,HMMPfam_NO_synthase,PatternScan_NOS,superfamily_Nitric oxide (NO) synthase oxygenase domain,HMMPfam_Flavodoxin_1,superfamily_Riboflavin synthase domain-like,superfamily_Flavoproteins,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain	p.E1124K	ENST00000338101.4	37	c.3370	CCDS55890.1	12	.	.	.	.	.	.	.	.	.	.	C	14.27	2.483927	0.44147	0.0	1.18E-4	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.70749	-0.51;-0.51	4.45	4.45	0.53987	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.101978	0.64402	D	0.000003	T	0.63177	0.2489	L	0.41079	1.255	0.80722	D	1	B	0.27594	0.182	B	0.22753	0.041	T	0.63523	-0.6618	10	0.45353	T	0.12	-35.581	17.257	0.87060	0.0:1.0:0.0:0.0	.	1124	P29475	NOS1_HUMAN	K	1019;1124;1124;1158	ENSP00000320758:E1124K;ENSP00000337459:E1158K	ENSP00000320758:E1124K	E	-	1	0	NOS1	116154185	1.000000	0.71417	0.945000	0.38365	0.016000	0.09150	7.651000	0.83577	2.313000	0.78055	0.305000	0.20034	GAG	-	HMMPfam_FAD_binding_1,superfamily_Riboflavin synthase domain-like		0.592	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NOS1	protein_coding	OTTHUMT00000268053.1	C			116154185	-1	no_errors	NM_000620.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	117669802	C	T	117669802	3	4	97	1	0	0	0	0	1	0	0	0	10541	893	31	1	966	1	NOS1	12	117669802	Missense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09	85139279	117669802	16182093	16	1057											
TTLL5	23093	genome.wustl.edu	37	14	76232532	76232532	+	Silent	SNP	A	A	G			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr14:76232532A>G	ENST00000298832.9	+	20	2041	c.1836A>G	c.(1834-1836)agA>agG	p.R612R	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Silent_p.R626R|TTLL5_ENST00000556893.1_Silent_p.R163R|TTLL5_ENST00000554510.1_Silent_p.R121R	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	612					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)	p.R612R(1)		NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GATTTCTTAGAGAAAATCAAG	0.398																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	14											64	62	63					14																	76232532		2203	4300	6503	75302285	SO:0001819	synonymous_variant	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"Tubulin tyrosine ligase-like family"	19963	protein-coding gene	gene with protein product		612268	"KIAA0998"	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1836A>G	14.37:g.76232532A>G		936	0.11	1					75302285	705	30.75	313	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like	p.R612	ENST00000298832.9	37	c.1836	CCDS32124.1	14																																																																																			-	NULL		0.398	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	protein_coding	OTTHUMT00000414453.1	A	NM_015072		75302285	1	no_errors	NM_015072.3	genbank	human	validated	54_36p	silent	SNP	0.056	G	G	76232532	A	G	76232532	2	3	97	1	0	0	0	0	0	0	0	1	16727	301	11	3		3	TTLL5	14	76232532	Silent	SNP	A	TCGA-AB-2905-03A-01D-0739-09		76232532	31117008	17	1058											
RNF111	54778	genome.wustl.edu	37	15	59368279	59368279	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr15:59368279C>T	ENST00000557998.1	+	7	2100	c.1813C>T	c.(1813-1815)Cag>Tag	p.Q605*	RNF111_ENST00000434298.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000561186.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000559209.1_Nonsense_Mutation_p.Q605*|RNF111_ENST00000348370.4_Nonsense_Mutation_p.Q605*	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	605					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q605*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CTTTGGCCATCAGGCCGCTGC	0.557																																					NSCLC(72;983 1365 10746 34387 47081)	dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	15											90	87	88					15																	59368279		2192	4291	6483	57155571	SO:0001587	stop_gained	0			AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"RING-type (C3HC4) zinc fingers"	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1813C>T	15.37:g.59368279C>T	ENSP00000452732:p.Gln605*	941	0	0					57155571	523	29.53	220	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Nonsense_Mutation	SNP	HMMSmart_SM00184,HMMPfam_zf-C3HC4,superfamily_RING/U-box	p.Q605*	ENST00000557998.1	37	c.1813	CCDS58366.1	15	.	.	.	.	.	.	.	.	.	.	C	43	10.212615	0.99360	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.66	5.66	0.87406	.	0.111307	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-11.346	20.1225	0.97967	0.0:1.0:0.0:0.0	.	.	.	.	X	605	.	ENSP00000288199:Q605X	Q	+	1	0	RNF111	57155571	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.231000	0.78106	2.831000	0.97527	0.650000	0.86243	CAG	-	NULL		0.557	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	protein_coding	OTTHUMT00000416012.1	C	NM_017610		57155571	1	no_errors	NM_017610.6	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	59368279	C	T	59368279	4	4	97	1	0	0	0	0	0	1	0	0	13425	827	29	2	1835	2	RNF111	15	59368279	Nonsense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09		59368279	43163113	18	1059											
PARP6	56965	genome.wustl.edu	37	15	72549766	72549766	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr15:72549766G>T	ENST00000569795.1	-	13	1609	c.922C>A	c.(922-924)Cgt>Agt	p.R308S	PARP6_ENST00000287196.9_Missense_Mutation_p.R308S|PARP6_ENST00000260376.7_Missense_Mutation_p.R308S|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	308							NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R308S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CATAGTTCACGAGTACAGACA	0.527																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	15											129	137	134					15																	72549766		2056	4205	6261	70336820	SO:0001583	missense	0			AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"Poly (ADP-ribose) polymerases"	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.922C>A	15.37:g.72549766G>T	ENSP00000456348:p.Arg308Ser	1316	0.75	10					70336820	725	31.41	332	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	HMMPfam_PARP,superfamily_ADP-ribosylation	p.R308S	ENST00000569795.1	37	c.922	CCDS10241.2	15	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816504	0.70912	.	.	ENSG00000137817	ENST00000419739;ENST00000287196;ENST00000260376;ENST00000413097;ENST00000544520;ENST00000336471	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.74688	0.3749	L	0.54323	1.7	0.51012	D	0.999905	D;D;D	0.69078	0.981;0.995;0.997	P;D;P	0.70227	0.654;0.968;0.873	T	0.70916	-0.4742	9	0.30078	T	0.28	-43.6955	18.1578	0.89699	0.0:0.0:1.0:0.0	.	308;308;240	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	S	308;308;308;153;153;308	.	ENSP00000260376:R308S	R	-	1	0	PARP6	70336820	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.230000	0.65321	2.533000	0.85409	0.650000	0.86243	CGT	-	NULL		0.527	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP6	protein_coding	OTTHUMT00000257315.2	G	NM_020214		70336820	-1	no_errors	NM_020214.2	genbank	human	provisional	54_36p	missense	SNP	0.993	T	T	72549766	G	T	72549766	3	4	97	1	0	0	0	0	1	0	0	0	11464	1058	37	4	1018	4	PARP6	15	72549766	Missense_Mutation	SNP	G	TCGA-AB-2905-03A-01D-0739-09	13181487	72549766	29981626	19	1060											
NAPA	8775	genome.wustl.edu	37	19	47995334	47995334	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr19:47995334C>T	ENST00000263354.3	-	8	903	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000595227.1_Missense_Mutation_p.A163T	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	202					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)		p.A202T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		TAGTCTTTGGCGCTGTACTTG	0.622																																					Ovarian(185;1135 2042 27703 31345 42493)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											206	166	180					19																	47995334		2203	4300	6503	52687146	SO:0001583	missense	0			U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"alpha SNAP"	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.604G>A	19.37:g.47995334C>T	ENSP00000263354:p.Ala202Thr	1045	0.29	3					52687146	566	26.64	207	A8K879|Q96IK3|Q9BVJ3	Missense_Mutation	SNP	HMMPfam_NSF,superfamily_TPR-like	p.A202T	ENST00000263354.3	37	c.604	CCDS12702.1	19	.	.	.	.	.	.	.	.	.	.	C	30	5.055522	0.93793	.	.	ENSG00000105402	ENST00000263354	T	0.34275	1.37	5.02	5.02	0.67125	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	M	0.88031	2.925	0.80722	D	1	D	0.59357	0.985	P	0.50082	0.63	T	0.66114	-0.6004	10	0.52906	T	0.07	-13.2717	17.2678	0.87092	0.0:1.0:0.0:0.0	.	202	P54920	SNAA_HUMAN	T	202	ENSP00000263354:A202T	ENSP00000263354:A202T	A	-	1	0	NAPA	52687146	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	7.350000	0.79385	2.616000	0.88540	0.511000	0.50034	GCC	-	superfamily_TPR-like		0.622	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	protein_coding	OTTHUMT00000466048.2	C	NM_003827		52687146	-1	no_errors	NM_003827.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	47995334	C	T	47995334	3	4	97	1	0	0	0	0	1	0	0	0	10161	768	27	1	299	1	NAPA	19	47995334	Missense_Mutation	SNP	C	TCGA-AB-2905-03A-01D-0739-09		47995334	11133649	20	1061											
KCNQ2	3785	genome.wustl.edu	37	20	62038564	62038564	+	Silent	SNP	G	G	T			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr20:62038564G>T	ENST00000359125.2	-	17	2226	c.2052C>A	c.(2050-2052)ggC>ggA	p.G684G	KCNQ2_ENST00000354587.3_Silent_p.G692G|KCNQ2_ENST00000370224.1_Silent_p.G692G|KCNQ2_ENST00000359689.1_Silent_p.G684G|KCNQ2_ENST00000360480.3_Silent_p.G656G|KCNQ2_ENST00000344462.4_Silent_p.G653G|KCNQ2_ENST00000357249.2_Silent_p.G666G	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	684					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.G684G(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGACAATGCAGCCGTGCCTGT	0.692																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	20											13	16	15					20																	62038564		2189	4282	6471	61509008	SO:0001819	synonymous_variant	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2052C>A	20.37:g.62038564G>T		163	0	0					61509008	84	33.33	42	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_Voltage-gated potassium channels	p.G684	ENST00000359125.2	37	c.2052	CCDS13520.1	20																																																																																			-	NULL		0.692	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	protein_coding	OTTHUMT00000080353.1	G	NM_172109		61509008	-1	no_errors	NM_172107.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	62038564	G	T	62038564	2	4	97	1	0	0	0	0	0	0	0	1	8083	958	34	4		4	KCNQ2	20	62038564	Silent	SNP	G	TCGA-AB-2905-03A-01D-0739-09		62038564	986956	21	1062											
JAM2	58494	genome.wustl.edu	37	21	27066149	27066149	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chr21:27066149G>A	ENST00000480456.1	+	4	873	c.323G>A	c.(322-324)cGt>cAt	p.R108H	JAM2_ENST00000400532.1_Missense_Mutation_p.R108H|JAM2_ENST00000425221.2_Missense_Mutation_p.R72H|JAM2_ENST00000312957.5_Missense_Mutation_p.R108H	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	108	Ig-like V-type.				blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.R108H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GGGAAATATCGTTGTGAAGTT	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	21											176	181	180					21																	27066149		2013	4158	6171	25988020	SO:0001583	missense	0			AF255910	CCDS42911.1, CCDS58787.1, CCDS58788.1	21q21.2	2013-01-11			ENSG00000154721	ENSG00000154721		"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing"	14686	protein-coding gene	gene with protein product		606870		C21orf43		10779521, 10945976	Standard	NM_021219		Approved	VE-JAM, JAM-B, JAMB, CD322	uc031rvc.1	P57087	OTTHUMG00000078441	ENST00000480456.1:c.323G>A	21.37:g.27066149G>A	ENSP00000420419:p.Arg108His	1121	0.09	1					25988020	710	33.46	357	B2R6T9|B4DGT9|Q6UXG6|Q6YNC1	Missense_Mutation	SNP	HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,superfamily_SSF48726	p.R108H	ENST00000480456.1	37	c.323	CCDS42911.1	21	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562852	0.86335	.	.	ENSG00000154721	ENST00000480456;ENST00000400533;ENST00000400532;ENST00000400537;ENST00000312957;ENST00000425221	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.56	5.56	0.83823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.77565	0.4149	M	0.68952	2.095	0.54753	D	0.999985	D;D;D;D;D	0.89917	0.997;1.0;0.999;1.0;0.997	P;D;D;D;P	0.91635	0.864;0.973;0.932;0.999;0.898	T	0.76353	-0.2990	10	0.48119	T	0.1	.	16.5363	0.84373	0.0:0.0:1.0:0.0	.	72;108;108;108;108	B4DGT9;A8MQ45;A8MXS1;A8MTB0;P57087	.;.;.;.;JAM2_HUMAN	H	108;108;108;108;108;72	ENSP00000420419:R108H;ENSP00000383376:R108H;ENSP00000318416:R108H;ENSP00000392611:R72H	ENSP00000318416:R108H	R	+	2	0	JAM2	25988020	1.000000	0.71417	0.923000	0.36655	0.973000	0.67179	5.606000	0.67641	2.890000	0.99128	0.655000	0.94253	CGT	-	HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726		0.403	JAM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JAM2	protein_coding	OTTHUMT00000171347.1	G			25988020	1	no_errors	NM_021219.2	genbank	human	reviewed	54_36p	missense	SNP	0.994	A	A	27066149	G	A	27066149	3	1	97	1	0	0	0	0	1	0	0	0	7943	1145	40	1	337	1	JAM2	21	27066149	Missense_Mutation	SNP	G	TCGA-AB-2905-03A-01D-0739-09		27066149	21063746	22	1063											
CYBB	1536	genome.wustl.edu	37	X	37665662	37665662	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2905-03A-01D-0739-09	TCGA-AB-2905-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ccdc0b99-43b9-465c-97cc-199fa22b7d06	d38f4cbf-101a-445d-adaf-b3803d5dcfc5	g.chrX:37665662G>A	ENST00000378588.4	+	11	1404	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	CYBB_ENST00000545017.1_Missense_Mutation_p.R414Q|CYBB_ENST00000536160.1_Missense_Mutation_p.R179Q|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	446					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)	p.R446Q(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	TGGCTGTGCCGGGACACACAT	0.488																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											131	110	117					X																	37665662		2202	4300	6502	37550606	SO:0001583	missense	0			X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"Cytochrome b genes"	2578	protein-coding gene	gene with protein product		300481	"chronic granulomatous disease"	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.1337G>A	X.37:g.37665662G>A	ENSP00000367851:p.Arg446Gln	1460	0.14	2					37550606	408	60.98	644	A8K138|Q2PP16	Missense_Mutation	SNP	HMMPfam_FAD_binding_8,HMMPfam_NAD_binding_6,HMMPfam_Ferric_reduct,superfamily_Riboflavin synthase domain-like,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain	p.R446Q	ENST00000378588.4	37	c.1337	CCDS14242.1	X	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844486	0.91197	.	.	ENSG00000165168	ENST00000378588;ENST00000545017;ENST00000536160	D;D;D	0.97455	-4.39;-4.39;-4.39	5.63	5.63	0.86233	Ferric reductase, NAD binding (1);	0.174489	0.49305	D	0.000141	D	0.98251	0.9421	H	0.94698	3.57	0.35259	D	0.77943	D;P	0.57899	0.981;0.895	P;B	0.48901	0.594;0.355	D	0.99979	1.2410	10	0.72032	D	0.01	.	18.6209	0.91321	0.0:0.0:1.0:0.0	.	414;446	F5GWD2;P04839	.;CY24B_HUMAN	Q	446;414;179	ENSP00000367851:R446Q;ENSP00000441896:R414Q;ENSP00000441958:R179Q	ENSP00000367851:R446Q	R	+	2	0	CYBB	37550606	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	5.003000	0.63959	2.341000	0.79615	0.513000	0.50165	CGG	-	HMMPfam_NAD_binding_6,superfamily_Ferredoxin reductase-like C-terminal NADP-linked domain		0.488	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBB	protein_coding	OTTHUMT00000080881.1	G			37550606	1	no_errors	NM_000397.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	37665662	G	A	37665662	3	1	97	1	0	0	0	0	1	0	0	0	4133	1116	39	1	1379	1	CYBB	23	37665662	Missense_Mutation	SNP	G	TCGA-AB-2905-03A-01D-0739-09		37665662	117604898	23	1064											
DLGAP3	58512	genome.wustl.edu	37	1	35370196	35370196	+	Silent	SNP	G	G	A			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr1:35370196G>A	ENST00000373347.1	-	3	1057	c.789C>T	c.(787-789)tcC>tcT	p.S263S	DLGAP3_ENST00000235180.4_Silent_p.S263S|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	263					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)	p.S263S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				AGTTGTCATCGGAACTCCACC	0.652																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											114	105	108					1																	35370196		2203	4300	6503	35142783	SO:0001819	synonymous_variant	0			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.789C>T	1.37:g.35370196G>A		1820	0.05	1					35142783	1242	41.58	884	Q5TDD5|Q9H3X7	Silent	SNP	HMMPfam_GKAP	p.S263	ENST00000373347.1	37	c.789	CCDS30670.1	1																																																																																			-	NULL		0.652	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	protein_coding	OTTHUMT00000011554.1	G	NM_021234		35142783	-1	no_errors	NM_001080418.1	genbank	human	provisional	54_36p	silent	SNP	0.929	A	A	35370196	G	A	35370196	2	1	98	1	0	0	0	0	0	0	0	1	4561	1103	39	1		1	DLGAP3	1	35370196	Silent	SNP	G	TCGA-AB-2906-03A-01D-0739-09		35370196	213880425	1	1065											
NES	10763	genome.wustl.edu	37	1	156642555	156642555	+	Silent	SNP	G	G	A			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr1:156642555G>A	ENST00000368223.3	-	4	1557	c.1425C>T	c.(1423-1425)tcC>tcT	p.S475S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	475	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)	p.S475S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCTAAACTGGAGTGGTCAG	0.592																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											84	86	86					1																	156642555		2203	4300	6503	154909179	SO:0001819	synonymous_variant	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"Intermediate filaments type IV"	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1425C>T	1.37:g.156642555G>A		178	1.11	2					154909179	170	46.03	145	O00552|Q3LIF5|Q5SYZ6	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.S475	ENST00000368223.3	37	c.1425	CCDS1151.1	1																																																																																			-	NULL		0.592	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	protein_coding	OTTHUMT00000082844.2	G	NM_006617		154909179	-1	no_errors	NM_006617.1	genbank	human	reviewed	54_36p	silent	SNP	0.000	A	A	156642555	G	A	156642555	2	1	98	1	0	0	0	0	0	0	0	1	10337	1335	47	2		2	NES	1	156642555	Silent	SNP	G	TCGA-AB-2906-03A-01D-0739-09	121272359	156642555	92608066	2	1066											
IL17RD	54756	genome.wustl.edu	37	3	57131719	57131719	+	Nonsense_Mutation	SNP	G	G	C	rs200787099	byFrequency	TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr3:57131719G>C	ENST00000296318.7	-	12	2100	c.2012C>G	c.(2011-2013)tCa>tGa	p.S671*	IL17RD_ENST00000320057.5_Nonsense_Mutation_p.S527*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.S527*|IL17RD_ENST00000427856.2_Nonsense_Mutation_p.S647*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	671					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S527*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CAGCTCGGATGAGGGCACAGA	0.627																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	3											41	36	38					3																	57131719		2203	4300	6503	57106759	SO:0001587	stop_gained	0			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"Interleukins and interleukin receptors"	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.2012C>G	3.37:g.57131719G>C	ENSP00000296318:p.Ser671*	452	0	0					57106759	354	40.6	242	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Nonsense_Mutation	SNP	HMMPfam_SEFIR	p.S639*	ENST00000296318.7	37	c.1916	CCDS2880.2	3	.	.	.	.	.	.	.	.	.	.	G	39	7.716873	0.98450	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.7697	20.04	0.97581	0.0:0.0:1.0:0.0	.	.	.	.	X	671;527;647;527	.	ENSP00000296318:S671X	S	-	2	0	IL17RD	57106759	1.000000	0.71417	0.986000	0.45419	0.693000	0.40251	9.225000	0.95219	2.733000	0.93635	0.655000	0.94253	TCA	-	NULL		0.627	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RD	protein_coding	OTTHUMT00000316680.1	G	NM_017563		57106759	-1	no_errors	NM_017563.3	genbank	human	validated	54_36p	nonsense	SNP	0.998	C	C	57131719	G	C	57131719	4	2	98	1	0	0	0	0	0	1	0	0	7642	1294	45	4	215	4	IL17RD	3	57131719	Nonsense_Mutation	SNP	G	TCGA-AB-2906-03A-01D-0739-09		57131719	140890711	3	1067											
PTPRG	5793	genome.wustl.edu	37	3	61734593	61734593	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr3:61734593C>G	ENST00000474889.1	+	2	504	c.127C>G	c.(127-129)Cac>Gac	p.H43D	PTPRG_ENST00000295874.10_Missense_Mutation_p.H43D|PTPRG_ENST00000495879.1_3'UTR	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	43					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.H43D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CGAGAATAGACACGGCAGCGC	0.567																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											114	106	109					3																	61734593		2203	4300	6503	61709633	SO:0001583	missense	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.127C>G	3.37:g.61734593C>G	ENSP00000418112:p.His43Asp	941	0	0					61709633	464	43.03	352	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_Carb_anhydrase,superfamily_Carbonic anhydrase,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II	p.H43D	ENST00000474889.1	37	c.127	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800507	0.50315	.	.	ENSG00000144724	ENST00000536499;ENST00000474889;ENST00000295874	T;T	0.50548	0.74;0.74	5.95	5.95	0.96441	.	0.506403	0.20792	N	0.085584	T	0.46249	0.1383	L	0.40543	1.245	0.40130	D	0.976706	B;B	0.16802	0.019;0.006	B;B	0.18561	0.022;0.005	T	0.36237	-0.9756	10	0.72032	D	0.01	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	43;43	P23470-2;P23470	.;PTPRG_HUMAN	D	43	ENSP00000418112:H43D;ENSP00000295874:H43D	ENSP00000295874:H43D	H	+	1	0	PTPRG	61709633	1.000000	0.71417	1.000000	0.80357	0.386000	0.30323	5.515000	0.67049	2.824000	0.97209	0.655000	0.94253	CAC	-	NULL		0.567	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	C	NM_002841		61709633	1	no_errors	NM_002841.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	61734593	C	G	61734593	3	3	98	1	0	0	0	0	1	0	0	0	12802	478	17	4	133	4	PTPRG	3	61734593	Missense_Mutation	SNP	C	TCGA-AB-2906-03A-01D-0739-09	4602874	61734593	136287837	4	1068											
EPHB1	2047	genome.wustl.edu	37	3	134873071	134873071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr3:134873071C>T	ENST00000398015.3	+	6	1745	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*	EPHB1_ENST00000493838.1_Nonsense_Mutation_p.Q20*	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	459	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.Q459*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACAGCCGGAGCAGCCCAATGG	0.557																																						dbGAP											2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	3											134	143	140					3																	134873071		2193	4298	6491	136355761	SO:0001587	stop_gained	0			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3392	protein-coding gene	gene with protein product		600600	"EphB1"	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1375C>T	3.37:g.134873071C>T	ENSP00000381097:p.Gln459*	1302	0	0					136355761	698	46.08	600	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Nonsense_Mutation	SNP	HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP	p.Q459*	ENST00000398015.3	37	c.1375	CCDS46921.1	3	.	.	.	.	.	.	.	.	.	.	C	44	10.942351	0.99492	.	.	ENSG00000154928	ENST00000398015;ENST00000493838	.	.	.	5.0	5.0	0.66597	.	0.062205	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.0819	0.89443	0.0:1.0:0.0:0.0	.	.	.	.	X	459;20	.	ENSP00000381097:Q459X	Q	+	1	0	EPHB1	136355761	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.589000	0.61006	2.610000	0.88304	0.655000	0.94253	CAG	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.557	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB1	protein_coding	OTTHUMT00000357671.1	C	NM_004441		136355761	1	no_errors	NM_004441.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	134873071	C	T	134873071	4	4	98	1	0	0	0	0	0	1	0	0	5174	711	25	2	1397	2	EPHB1	3	134873071	Nonsense_Mutation	SNP	C	TCGA-AB-2906-03A-01D-0739-09	73138478	134873071	63149359	5	1069											
MASP1	5648	genome.wustl.edu	37	3	186937934	186937934	+	Silent	SNP	C	C	T			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr3:186937934C>T	ENST00000337774.5	-	16	2414	c.2025G>A	c.(2023-2025)aaG>aaA	p.K675K		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	675	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.K675K(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGTAGCGGTCCTTCTTCCCAC	0.572											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											147	129	135					3																	186937934		2203	4300	6503	188420628	SO:0001819	synonymous_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"Serine peptidases / Serine peptidases"	6901	protein-coding gene	gene with protein product		600521	"mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.2025G>A	3.37:g.186937934C>T		1566	0	0	2011				188420628	993	43.68	770	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMPfam_Trypsin,HMMSmart_SM00020,HMMSmart_SM00179,superfamily_Trypsin-like serine proteases,PatternScan_EGF_2,superfamily_Complement control module/SCR domain,PatternScan_EGF_CA,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_EGF/Laminin	p.K675	ENST00000337774.5	37	c.2025	CCDS33907.1	3																																																																																			-	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases		0.572	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	protein_coding	OTTHUMT00000344262.1	C	NM_001879		188420628	-1	no_errors	NM_001879.1	genbank	human	reviewed	54_36p	silent	SNP	0.930	T	T	186937934	C	T	186937934	2	4	98	1	0	0	0	0	0	0	0	1	9322	680	24	2		2	MASP1	3	186937934	Silent	SNP	C	TCGA-AB-2906-03A-01D-0739-09	52064863	186937934	11084496	6	1070											
COL9A1	1297	genome.wustl.edu	37	6	70984444	70984444	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr6:70984444G>A	ENST00000357250.6	-	11	1165	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.S93F|COL9A1_ENST00000370499.4_Missense_Mutation_p.S93F	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	336	Collagen-like 2.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.S336F(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGACCCAATGGAGCCAGGGGA	0.388																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											102	98	99					6																	70984444		2203	4300	6503	71041165	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens"	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1007C>T	6.37:g.70984444G>A	ENSP00000349790:p.Ser336Phe	1091	0	0					71041165	622	34.04	321	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	HMMSmart_TSPN,HMMPfam_Collagen,superfamily_ConA_like_lec_gl	p.S336F	ENST00000357250.6	37	c.1007	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376875	0.42105	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	T;D;D	0.93659	1.8;-3.26;-3.23	5.85	5.85	0.93711	.	0.221478	0.47852	D	0.000210	D	0.91811	0.7409	N	0.16790	0.44	0.41594	D	0.988812	D;P	0.67145	0.996;0.891	P;B	0.62014	0.897;0.444	D	0.92525	0.6028	10	0.48119	T	0.1	.	18.7369	0.91757	0.0:0.0:1.0:0.0	.	336;93	P20849;P20849-2	CO9A1_HUMAN;.	F	336;93;93	ENSP00000349790:S336F;ENSP00000315252:S93F;ENSP00000359530:S93F	ENSP00000315252:S93F	S	-	2	0	COL9A1	71041165	0.999000	0.42202	0.993000	0.49108	0.793000	0.44817	4.099000	0.57755	2.768000	0.95171	0.655000	0.94253	TCC	-	HMMPfam_Collagen		0.388	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	protein_coding	OTTHUMT00000041131.2	G			71041165	-1	no_errors	NM_001851.4	genbank	human	reviewed	54_36p	missense	SNP	0.948	A	A	70984444	G	A	70984444	3	1	98	1	0	0	0	0	1	0	0	0	3707	1174	41	2	1870	2	COL9A1	6	70984444	Missense_Mutation	SNP	G	TCGA-AB-2906-03A-01D-0739-09		70984444	100130623	7	1071											
IKZF1	10320	genome.wustl.edu	37	7	50444459	50444459	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr7:50444459A>G	ENST00000331340.3	+	4	544	c.389A>G	c.(388-390)aAt>aGt	p.N130S	IKZF1_ENST00000349824.4_Missense_Mutation_p.N130S|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000440768.2_Missense_Mutation_p.N130S|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.N130S|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Missense_Mutation_p.N130S|IKZF1_ENST00000357364.4_Missense_Mutation_p.N130S	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	130					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)|p.N130S(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATCGGGCCCAATGTGCTCATG	0.507			"D,T"	BCL6	"ALL, DLBCL"																																	dbGAP		"Rec,Dom"	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	132	Unknown(131)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(132)	7											59	59	59					7																	50444459		1953	4161	6114	50411953	SO:0001583	missense	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13176	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 92"	603023	"zinc finger protein, subfamily 1A, 1 (Ikaros)"	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.389A>G	7.37:g.50444459A>G	ENSP00000331614:p.Asn130Ser	533	0	0					50411953	346	40.38	235	A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.N130S	ENST00000331340.3	37	c.389		7	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734456	0.69189	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.04758	3.72;3.58;4.02;3.82;3.56;3.72	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.14013	0.0339	.	.	.	0.58432	D	0.999996	D;P	0.76494	0.999;0.833	D;P	0.85130	0.997;0.554	T	0.21552	-1.0242	9	0.13108	T	0.6	-10.4364	14.274	0.66167	1.0:0.0:0.0:0.0	.	130;130	Q13422-7;Q13422	.;IKZF1_HUMAN	S	130	ENSP00000352123:N130S;ENSP00000401507:N130S;ENSP00000342485:N130S;ENSP00000349928:N130S;ENSP00000331614:N130S;ENSP00000413025:N130S	ENSP00000331614:N130S	N	+	2	0	IKZF1	50411953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.277000	0.95755	1.842000	0.53543	0.379000	0.24179	AAT	-	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.507	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	protein_coding	OTTHUMT00000342242.1	A	NM_006060		50411953	1	no_errors	ENST00000331340	ensembl	human	known	54_36p	missense	SNP	1.000	G	G	50444459	A	G	50444459	3	3	98	1	0	0	0	0	1	0	0	0	7614	101	4	3	399	3	IKZF1	7	50444459	Missense_Mutation	SNP	A	TCGA-AB-2906-03A-01D-0739-09		50444459	108694204	8	1072											
LONRF1	91694	genome.wustl.edu	37	8	12583332	12583332	+	Silent	SNP	A	A	G			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr8:12583332A>G	ENST00000398246.3	-	11	2136	c.2067T>C	c.(2065-2067)tcT>tcC	p.S689S	LONRF1_ENST00000525024.1_Silent_p.S115S|MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000533751.1_Silent_p.S332S	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	689	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.S689S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TGCAGGCTTGAGAGTAAACCA	0.413																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	8											84	82	82					8																	12583332		1832	4086	5918	12627703	SO:0001819	synonymous_variant	0			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"RING-type (C3HC4) zinc fingers"	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.2067T>C	8.37:g.12583332A>G		988	0.2	2					12627703	640	42.25	469	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	HMMSmart_SM00184,HMMPfam_LON,HMMSmart_SM00464,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RING/U-box	p.S689	ENST00000398246.3	37	c.2067	CCDS5987.2	8																																																																																			-	HMMPfam_LON,HMMSmart_SM00464		0.413	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	protein_coding	OTTHUMT00000251693.2	A	NM_152271		12627703	-1	no_errors	NM_152271.3	genbank	human	provisional	54_36p	silent	SNP	0.951	G	G	12583332	A	G	12583332	2	3	98	1	0	0	0	0	0	0	0	1	8894	291	11	3		3	LONRF1	8	12583332	Silent	SNP	A	TCGA-AB-2906-03A-01D-0739-09		12583332	133780690	9	1073											
CUBN	8029	genome.wustl.edu	37	10	16870963	16870963	+	Silent	SNP	C	C	T			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr10:16870963C>T	ENST00000377833.4	-	66	10670	c.10605G>A	c.(10603-10605)acG>acA	p.T3535T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3535	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.T3535T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTCGCAGTACGTGTTGTTTG	0.512																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											156	112	127					10																	16870963		2203	4300	6503	16910969	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10605G>A	10.37:g.16870963C>T		1390	0.36	5					16910969	747	44.35	596	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.T3535	ENST00000377833.4	37	c.10605	CCDS7113.1	10																																																																																			-	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain		0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	protein_coding	OTTHUMT00000047009.1	C	NM_001081		16910969	-1	no_errors	NM_001081.3	genbank	human	reviewed	54_36p	silent	SNP	0.938	T	T	16870963	C	T	16870963	2	4	98	1	0	0	0	0	0	0	0	1	4051	523	19	1		1	CUBN	10	16870963	Silent	SNP	C	TCGA-AB-2906-03A-01D-0739-09		16870963	118663784	10	1074											
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1800dupTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Asp593_Tyr599dup								27506255				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAA	ATCATATTCATATTCTCTGAA	28608256	-	ATCATATTCATATTCTCTGAA	28608255	7	5	98	1	0	1	1	0	0	0	0	0	5942	942	33	0	1224	0	FLT3	13	28608255	In_Frame_Ins	INS	-	TCGA-AB-2906-03A-01D-0739-09		28608255	86561623	11	1075											
AURKB	9212	genome.wustl.edu	37	17	8110166	8110166	+	Missense_Mutation	SNP	G	G	A	rs148133660	byFrequency	TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr17:8110166G>A	ENST00000585124.1	-	6	532	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	AURKB_ENST00000534871.1_Missense_Mutation_p.R106W|AURKB_ENST00000535053.1_Intron|AURKB_ENST00000578549.1_Missense_Mutation_p.R115W|AURKB_ENST00000316199.6_Missense_Mutation_p.R148W	NM_004217.3	NP_004208.2	Q96GD4	AURKB_HUMAN	aurora kinase B	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				abscission (GO:0009838)|aging (GO:0007568)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|attachment of spindle microtubules to kinetochore (GO:0008608)|cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|cleavage furrow formation (GO:0036089)|cytokinesis checkpoint (GO:0031565)|histone H3-S28 phosphorylation (GO:0043988)|histone modification (GO:0016570)|mitotic cell cycle (GO:0000278)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytokinesis (GO:0032467)|protein autophosphorylation (GO:0046777)|protein localization to kinetochore (GO:0034501)|protein phosphorylation (GO:0006468)|regulation of chromosome segregation (GO:0051983)|spindle checkpoint (GO:0031577)|spindle midzone assembly involved in mitosis (GO:0051256)|spindle stabilization (GO:0043146)	chromocenter (GO:0010369)|chromosome passenger complex (GO:0032133)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R147W(1)		breast(1)|central_nervous_system(1)|lung(2)	4						ATCCTCCTCCGGTCATAAAAA	0.527													G|||	2	0.000399361	0	0.0029	5008	,	,		14059	0		0	False		,,,				2504	0				NSCLC(134;1161 2470 43664 51568)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17						G	TRP/ARG	0,4406		0,0,2203	37	38	38		439	3	0.9	17	dbSNP_134	38	2,8598	2.2+/-6.3	0,2,4298	yes	missense	AURKB	NM_004217.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	147/345	8110166	2,13004	2203	4300	6503	8050891	SO:0001583	missense	0			AF004022	CCDS11134.1, CCDS58514.1, CCDS67162.1	17p13.1	2013-01-17	2003-07-21	2003-07-23	ENSG00000178999	ENSG00000178999		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	11390	protein-coding gene	gene with protein product	"aurora-B", "aurora-1", "protein phosphatase 1, regulatory subunit 48"	604970	"serine/threonine kinase 12"	STK12		9858806	Standard	NM_001256834		Approved	Aik2, IPL1, AurB, AIM-1, ARK2, STK5, PPP1R48	uc002gkm.4	Q96GD4	OTTHUMG00000108189	ENST00000585124.1:c.439C>T	17.37:g.8110166G>A	ENSP00000463999:p.Arg147Trp	806	0.12	1					8050891	319	46.33	278	B4DNM4|C7G533|C7G534|C7G535|D3DTR4|J9JID1|O14630|O60446|O95083|Q96DV5|Q9UQ46	Missense_Mutation	SNP	HMMSmart_SM00219,PatternScan_N6_MTASE,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R147W	ENST00000585124.1	37	c.439	CCDS11134.1	17	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198624	0.38806	0.0	2.33E-4	ENSG00000178999	ENST00000316199;ENST00000534871	T	0.08634	3.07	6.07	2.96	0.34315	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.253719	0.39759	N	0.001267	T	0.08846	0.0219	L	0.49126	1.545	0.80722	D	1	B;B	0.20368	0.044;0.044	B;B	0.06405	0.002;0.002	T	0.09271	-1.0682	10	0.72032	D	0.01	-30.0632	9.4351	0.38635	0.0746:0.2754:0.65:0.0	.	147;147	C7G533;Q96GD4	.;AURKB_HUMAN	W	147;106	ENSP00000443869:R106W	ENSP00000313950:R147W	R	-	1	2	AURKB	8050891	0.724000	0.28038	0.940000	0.37924	0.951000	0.60555	1.953000	0.40352	0.859000	0.35456	0.655000	0.94253	CGG	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.527	AURKB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AURKB	protein_coding	OTTHUMT00000226995.2	G	NM_004217		8050891	-1	no_errors	NM_004217.2	genbank	human	validated	54_36p	missense	SNP	0.999	A	A	8110166	G	A	8110166	3	1	98	1	0	0	0	0	1	0	0	0	1223	1115	39	1	611	1	AURKB	17	8110166	Missense_Mutation	SNP	G	TCGA-AB-2906-03A-01D-0739-09		8110166	73085044	12	1076											
ADAM11	4185	genome.wustl.edu	37	17	42837242	42837242	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr17:42837242C>T	ENST00000200557.6	+	2	383	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ADAM11_ENST00000535346.1_5'UTR	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	72					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R72C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CACAAGGGTCCGCCAGGAGCC	0.697																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											11	14	13					17																	42837242		2189	4283	6472	40192768	SO:0001583	missense	0			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"ADAM metallopeptidase domain containing"	189	protein-coding gene	gene with protein product	"metalloproteinase-like, disintegrin-like, cysteine-rich protein"	155120	"a disintegrin and metalloproteinase domain 11"	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.214C>T	17.37:g.42837242C>T	ENSP00000200557:p.Arg72Cys	78	0	0					40192768	74	41.41	53	Q14808|Q14809|Q14810	Missense_Mutation	SNP	HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_CR,HMMSmart_SM00608,PatternScan_EGF_1,HMMPfam_EGF_2,PatternScan_DISINTEGRIN_1,superfamily_Metalloproteases ("zincins") catalytic domain,superfamily_EGF/Laminin	p.R72C	ENST00000200557.6	37	c.214	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977204	0.34848	.	.	ENSG00000073670	ENST00000200557	T	0.02525	4.26	4.06	3.0	0.34707	Peptidase M12B, propeptide (1);	0.092675	0.43416	D	0.000568	T	0.10035	0.0246	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.01108	-1.1449	10	0.87932	D	0	.	8.8222	0.35032	0.0:0.7683:0.2317:0.0	.	72	O75078	ADA11_HUMAN	C	72	ENSP00000200557:R72C	ENSP00000200557:R72C	R	+	1	0	ADAM11	40192768	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.653000	0.24902	1.781000	0.52344	0.455000	0.32223	CGC	-	HMMPfam_Pep_M12B_propep		0.697	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	protein_coding	OTTHUMT00000444531.1	C	NM_002390		40192768	1	no_errors	NM_002390.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	42837242	C	T	42837242	3	4	98	1	0	0	0	0	1	0	0	0	235	652	23	1	220	1	ADAM11	17	42837242	Missense_Mutation	SNP	C	TCGA-AB-2906-03A-01D-0739-09	34727076	42837242	38357968	13	1077											
CCDC57	284001	genome.wustl.edu	37	17	80059710	80059710	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr17:80059710G>A	ENST00000389641.4	-	18	2635	c.2599C>T	c.(2599-2601)Ccc>Tcc	p.P867S	CCDC57_ENST00000392347.1_Missense_Mutation_p.P867S			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	867								p.P867S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			ATCTTGACGGGCCTCCTGTCG	0.602																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											54	58	57					17																	80059710		2042	4199	6241	77652999	SO:0001583	missense	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2599C>T	17.37:g.80059710G>A	ENSP00000374292:p.Pro867Ser	154	0	0					77652999	109	43.3	84	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.P866S	ENST00000389641.4	37	c.2596		17	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208752	0.39003	.	.	ENSG00000176155	ENST00000389641;ENST00000392347	T;T	0.11712	2.75;2.75	3.09	-0.569	0.11756	.	.	.	.	.	T	0.06600	0.0169	L	0.27053	0.805	0.09310	N	0.999995	B	0.06786	0.001	B	0.11329	0.006	T	0.39272	-0.9622	9	0.87932	D	0	.	2.2303	0.03994	0.3082:0.0:0.4457:0.2461	.	867	Q2TAC2	CCD57_HUMAN	S	867	ENSP00000374292:P867S;ENSP00000376158:P867S	ENSP00000374292:P867S	P	-	1	0	CCDC57	77652999	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.785000	0.04628	0.395000	0.25257	0.462000	0.41574	CCC	-	NULL		0.602	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	protein_coding	OTTHUMT00000277182.3	G	NM_198082		77652999	-1	no_errors	NM_198082.2	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	80059710	G	A	80059710	3	1	98	1	0	0	0	0	1	0	0	0	2827	1203	42	2	155	2	CCDC57	17	80059710	Missense_Mutation	SNP	G	TCGA-AB-2906-03A-01D-0739-09	37222468	80059710	1135500	14	1078											
THEG	51298	genome.wustl.edu	37	19	373949	373949	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2906-03A-01D-0739-09	TCGA-AB-2906-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab4740e-e48f-4d5f-8b48-1b249e12b164	b5561c6c-eece-4ac3-969b-094285b5e3ff	g.chr19:373949C>G	ENST00000342640.4	-	3	536	c.494G>C	c.(493-495)tGt>tCt	p.C165S	THEG_ENST00000346878.2_Intron	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	165					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.C165S(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGAGACAGAAGTGCAA	0.612																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											133	94	107					19																	373949		2203	4300	6503	324949	SO:0001583	missense	0			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"cancer/testis antigen 56"	609503	"Theg homolog (mouse)"			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.494G>C	19.37:g.373949C>G	ENSP00000340088:p.Cys165Ser	373	0	0					324949	166	37.36	99	A6NMJ8	Missense_Mutation	SNP	HMMSmart_SM00705	p.C165S	ENST00000342640.4	37	c.494	CCDS12025.1	19	.	.	.	.	.	.	.	.	.	.	C	1.733	-0.493767	0.04322	.	.	ENSG00000105549	ENST00000342640	T	0.36699	1.24	2.99	0.709	0.18150	.	0.291342	0.24373	N	0.039081	T	0.27384	0.0672	L	0.60455	1.87	0.58432	D	0.999997	B	0.19331	0.035	B	0.14023	0.01	T	0.05903	-1.0857	10	0.34782	T	0.22	-7.784	4.2338	0.10616	0.0:0.5694:0.286:0.1446	.	165	Q9P2T0	THEG_HUMAN	S	165	ENSP00000340088:C165S	ENSP00000340088:C165S	C	-	2	0	THEG	324949	1.000000	0.71417	0.797000	0.32132	0.050000	0.14768	0.901000	0.28445	0.278000	0.22164	-0.350000	0.07774	TGT	-	NULL		0.612	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	protein_coding	OTTHUMT00000384431.2	C			324949	-1	no_errors	NM_016585.3	genbank	human	reviewed	54_36p	missense	SNP	0.051	G	G	373949	C	G	373949	3	3	98	1	0	0	0	0	1	0	0	0	15854	478	17	4	669	4	THEG	19	373949	Missense_Mutation	SNP	C	TCGA-AB-2906-03A-01D-0739-09		373949	58755034	15	1079											
WLS	79971	genome.wustl.edu	37	1	68659721	68659721	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr1:68659721G>C	ENST00000262348.4	-	2	549	c.296C>G	c.(295-297)cCc>cGc	p.P99R	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000370971.1_Missense_Mutation_p.P99R|WLS_ENST00000370976.3_Intron|WLS_ENST00000540432.1_Missense_Mutation_p.P99R|WLS_ENST00000354777.2_Missense_Mutation_p.P97R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	99					anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)	p.P99R(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTCCATGTGGGGGAGGGGAAT	0.453																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											191	153	166					1																	68659721		2203	4300	6503	68432309	SO:0001583	missense	0			BX538320	CCDS642.1, CCDS30750.1, CCDS53331.1	1p31.2	2013-10-03	2013-10-03	2010-03-02	ENSG00000116729	ENSG00000116729			30238	protein-coding gene	gene with protein product	"wntless homolog"	611514	"chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)"	C1orf139, GPR177		12761501	Standard	NM_024911		Approved	FLJ23091, MRP, wls, EVI, mig-14	uc001dee.3	Q5T9L3	OTTHUMG00000009153	ENST00000262348.4:c.296C>G	1.37:g.68659721G>C	ENSP00000262348:p.Pro99Arg	274	1.79	5					68432309	198	30.66	88	B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43	Missense_Mutation	SNP	HMMPfam_DUF1171	p.P97R	ENST00000262348.4	37	c.290	CCDS642.1	1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009035	0.54361	.	.	ENSG00000116729	ENST00000540432;ENST00000354777;ENST00000262348;ENST00000530486;ENST00000471243;ENST00000370971	T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52	5.27	5.27	0.74061	.	0.104228	0.64402	D	0.000002	T	0.26159	0.0638	M	0.81802	2.56	0.80722	D	1	B;B;B;B	0.32467	0.326;0.372;0.005;0.326	B;B;B;B	0.31614	0.129;0.133;0.007;0.129	T	0.10965	-1.0607	10	0.49607	T	0.09	-11.0637	14.8038	0.69935	0.0:0.144:0.856:0.0	.	99;99;99;97	F5H4K0;Q7Z430;Q5T9L3;Q5T9L3-2	.;.;WLS_HUMAN;.	R	99;97;99;54;54;99	ENSP00000446112:P99R;ENSP00000346829:P97R;ENSP00000262348:P99R;ENSP00000433111:P54R;ENSP00000436196:P54R;ENSP00000360010:P99R	ENSP00000262348:P99R	P	-	2	0	WLS	68432309	1.000000	0.71417	0.922000	0.36590	0.946000	0.59487	5.434000	0.66526	2.615000	0.88500	0.655000	0.94253	CCC	-	NULL		0.453	WLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR177	protein_coding	OTTHUMT00000025368.1	G	NM_024911		68432309	-1	no_errors	NM_001002292.1	genbank	human	validated	54_36p	missense	SNP	0.975	C	C	68659721	G	C	68659721	3	2	99	1	0	0	0	0	1	0	0	0	17373	1232	43	4	1499	4	WLS	1	68659721	Missense_Mutation	SNP	G	TCGA-AB-2907-03A-01D-0739-09		68659721	180590900	1	1080											
TTN	7273	genome.wustl.edu	37	2	179647547	179647547	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr2:179647547T>C	ENST00000591111.1	-	18	3310	c.3086A>G	c.(3085-3087)tAt>tGt	p.Y1029C	TTN_ENST00000460472.2_Missense_Mutation_p.Y983C|TTN_ENST00000342992.6_Missense_Mutation_p.Y1029C|TTN_ENST00000342175.6_Missense_Mutation_p.Y983C|TTN_ENST00000589042.1_Missense_Mutation_p.Y1029C|TTN_ENST00000359218.5_Missense_Mutation_p.Y983C|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Y1029C			Q8WZ42	TITIN_HUMAN	titin	32579	Ig-like 3.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y983C(2)|p.Y1029C(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGCCAGATAGCAGGATGT	0.502																																						dbGAP											4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(4)	2											78	64	69					2																	179647547		2203	4300	6503	179355792	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3086A>G	2.37:g.179647547T>C	ENSP00000465570:p.Tyr1029Cys	225	0.88	2					179355792	183	27.95	71	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726	p.Y1029C	ENST00000591111.1	37	c.3086		2	.	.	.	.	.	.	.	.	.	.	T	14.82	2.649870	0.47362	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74891	0.3776	L	0.32530	0.975	0.39125	D	0.961744	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.72338	0.964;0.964;0.964;0.964;0.977	T	0.78687	-0.2107	9	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	983;983;983;1029;1029	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	C	1029;983;983;983;983;1029	ENSP00000343764:Y1029C;ENSP00000434586:Y983C;ENSP00000340554:Y983C;ENSP00000352154:Y983C;ENSP00000354117:Y1029C	ENSP00000340554:Y983C	Y	-	2	0	TTN	179355792	1.000000	0.71417	0.960000	0.40013	0.953000	0.61014	6.148000	0.71788	2.371000	0.80710	0.533000	0.62120	TAT	-	HMMPfam_I-set,superfamily_SSF48726		0.502	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179355792	-1	no_errors	NM_133379.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	179647547	T	C	179647547	3	2	99	1	0	0	0	0	1	0	0	0	16732	1406	49	3	108282	3	TTN	2	179647547	Missense_Mutation	SNP	T	TCGA-AB-2907-03A-01D-0739-09		179647547	63551826	2	1081											
FRZB	2487	genome.wustl.edu	37	2	183731076	183731076	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr2:183731076T>C	ENST00000295113.4	-	1	814	c.205A>G	c.(205-207)Atc>Gtc	p.I69V		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	69	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I69V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			AACTGCTCGATGGCCAGGATG	0.607																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											109	89	95					2																	183731076		2203	4300	6503	183439321	SO:0001583	missense	0			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"Secreted frizzled-related proteins"	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.205A>G	2.37:g.183731076T>C	ENSP00000295113:p.Ile69Val	744	0.93	7					183439321	205	30.87	92	O00181|Q99686	Missense_Mutation	SNP	superfamily_Frizzled cysteine-rich domain,superfamily_TIMP-like,HMMPfam_NTR,HMMSmart_SM00643,HMMPfam_Fz,HMMSmart_SM00063	p.I69V	ENST00000295113.4	37	c.205	CCDS2286.1	2	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469446	0.26423	.	.	ENSG00000162998	ENST00000295113	T	0.79141	-1.24	4.91	3.76	0.43208	Frizzled domain (5);	0.119302	0.56097	D	0.000031	T	0.64821	0.2633	N	0.25031	0.7	0.50632	D	0.999886	B	0.21688	0.059	B	0.30716	0.119	T	0.55509	-0.8130	10	0.22706	T	0.39	.	10.2962	0.43625	0.0:0.0773:0.0:0.9227	.	69	Q92765	SFRP3_HUMAN	V	69	ENSP00000295113:I69V	ENSP00000295113:I69V	I	-	1	0	FRZB	183439321	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.034000	0.57289	0.899000	0.36444	0.459000	0.35465	ATC	-	superfamily_Frizzled cysteine-rich domain,HMMPfam_Fz,HMMSmart_SM00063		0.607	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	protein_coding	OTTHUMT00000255808.1	T	NM_001463		183439321	-1	no_errors	NM_001463.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	183731076	T	C	183731076	3	2	99	1	0	0	0	0	1	0	0	0	6065	1464	51	3	796	3	FRZB	2	183731076	Missense_Mutation	SNP	T	TCGA-AB-2907-03A-01D-0739-09	4083529	183731076	59468297	3	1082											
ALS2CR11	151254	genome.wustl.edu	37	2	202400926	202400926	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr2:202400926C>T	ENST00000286195.3	-	13	1368	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	ALS2CR11_ENST00000439802.1_Intron|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.V442M|ALS2CR11_ENST00000439140.1_Missense_Mutation_p.V442M	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	442								p.V442M(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AATGAGTGCACTTCTGTGGGT	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											169	156	160					2																	202400926		2203	4300	6503	202109171	SO:0001583	missense	0			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.1324G>A	2.37:g.202400926C>T	ENSP00000286195:p.Val442Met	277	1.42	4					202109171	266	35.65	149	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	NULL	p.V442M	ENST00000286195.3	37	c.1324	CCDS2349.1	2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989238	0.35131	.	.	ENSG00000155754	ENST00000286195;ENST00000439140;ENST00000450242	T;T;T	0.44482	0.92;0.92;0.92	4.57	-9.14	0.00701	.	5.002730	0.00754	N	0.001094	T	0.25158	0.0611	N	0.22421	0.69	0.09310	N	1	P;P	0.49090	0.919;0.919	P;P	0.45558	0.485;0.485	T	0.48703	-0.9012	10	0.36615	T	0.2	.	1.1364	0.01755	0.3619:0.3382:0.1103:0.1897	.	442;442	E9PGG4;Q53TS8	.;AL2SA_HUMAN	M	442	ENSP00000286195:V442M;ENSP00000409937:V442M;ENSP00000399016:V442M	ENSP00000286195:V442M	V	-	1	0	ALS2CR11	202109171	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.583000	0.02115	-2.292000	0.00665	-0.467000	0.05162	GTG	-	NULL		0.403	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALS2CR11	protein_coding	OTTHUMT00000256296.2	C	NM_152525		202109171	-1	no_errors	NM_152525.4	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	202400926	C	T	202400926	3	4	99	1	0	0	0	0	1	0	0	0	552	565	20	2	4301	2	ALS2CR11	2	202400926	Missense_Mutation	SNP	C	TCGA-AB-2907-03A-01D-0739-09	18669850	202400926	40798447	4	1083											
RBM46	166863	genome.wustl.edu	37	4	155749093	155749093	+	Silent	SNP	C	C	T			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr4:155749093C>T	ENST00000281722.3	+	5	1711	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	492							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.S492S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GGACTCCCAGCGTGCTTCCTT	0.423																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	4											199	199	199					4																	155749093		2203	4300	6503	155968543	SO:0001819	synonymous_variant	0			BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"RNA binding motif (RRM) containing"	28401	protein-coding gene	gene with protein product	"cancer/testis antigen 68"					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1476C>T	4.37:g.155749093C>T		341	0.29	1					155968543	167	34.5	89	B3KWU8|B4DZ27	Silent	SNP	HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928	p.S492	ENST00000281722.3	37	c.1476	CCDS3790.1	4																																																																																			-	NULL		0.423	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM46	protein_coding	OTTHUMT00000365259.1	C	NM_144979		155968543	1	no_errors	NM_144979.3	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	155749093	C	T	155749093	2	4	99	1	0	0	0	0	0	0	0	1	13140	767	27	1		1	RBM46	4	155749093	Silent	SNP	C	TCGA-AB-2907-03A-01D-0739-09		155749093	35405183	5	1084											
PCDHB1	29930	genome.wustl.edu	37	5	140432819	140432819	+	Silent	SNP	C	C	A			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr5:140432819C>A	ENST00000306549.3	+	1	1841	c.1764C>A	c.(1762-1764)acC>acA	p.T588T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	588	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T588T(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTAGTGACCAAAGTGGTGG	0.483																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	5											85	76	79					5																	140432819		2203	4300	6503	140413003	SO:0001819	synonymous_variant	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1764C>A	5.37:g.140432819C>A		240	0.82	2					140413003	136	32.67	66	Q2M257	Silent	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.T588	ENST00000306549.3	37	c.1764	CCDS4243.1	5																																																																																			-	HMMPfam_Cadherin,superfamily_Cadherin		0.483	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	protein_coding	OTTHUMT00000251822.2	C	NM_013340		140413003	1	no_errors	NM_013340.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	140432819	C	A	140432819	2	1	99	1	0	0	0	0	0	0	0	1	11534	581	21	4		4	PCDHB1	5	140432819	Silent	SNP	C	TCGA-AB-2907-03A-01D-0739-09		140432819	40482441	6	1085											
RCAN2	10231	genome.wustl.edu	37	6	46190881	46190881	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr6:46190881G>C	ENST00000330430.6	-	4	779	c.591C>G	c.(589-591)aaC>aaG	p.N197K	RCAN2_ENST00000306764.7_Missense_Mutation_p.N243K|RCAN2_ENST00000371374.1_Missense_Mutation_p.N243K|RCAN2_ENST00000405162.1_Missense_Mutation_p.N243K	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	197					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)	p.N197K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGGCAGCTCAGTTGGACACGG	0.483																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											181	208	200					6																	46190881		1989	4166	6155	46298840	SO:0001583	missense	0			D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"Down syndrome critical region gene 1-like 1"	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.591C>G	6.37:g.46190881G>C	ENSP00000329454:p.Asn197Lys	258	0.77	2					46298840	218	22.26	63	A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	HMMPfam_Calcipressin	p.N197K	ENST00000330430.6	37	c.591	CCDS43469.1	6	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961371	0.74016	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	5.47	5.47	0.80525	.	0.139923	0.48286	D	0.000190	T	0.70133	0.3189	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.979	T	0.73219	-0.4052	9	0.87932	D	0	-11.7121	16.4648	0.84076	0.0:0.0:1.0:0.0	.	243;197	Q14206-2;Q14206	.;RCAN2_HUMAN	K	197;243;243;243	.	ENSP00000305223:N243K	N	-	3	2	RCAN2	46298840	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.073000	0.71245	2.558000	0.86282	0.655000	0.94253	AAC	-	NULL		0.483	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN2	protein_coding	OTTHUMT00000040782.1	G			46298840	-1	no_errors	NM_005822.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	46190881	G	C	46190881	3	2	99	1	0	0	0	0	1	0	0	0	13169	1020	36	4	6	4	RCAN2	6	46190881	Missense_Mutation	SNP	G	TCGA-AB-2907-03A-01D-0739-09		46190881	124924186	7	1086											
CLVS2	134829	genome.wustl.edu	37	6	123384853	123384853	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr6:123384853C>T	ENST00000275162.5	+	6	2266	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	CLVS2_ENST00000368438.1_Missense_Mutation_p.R165C	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	311					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.R311C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AGTACTAAAACGCATGGATAA	0.388																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											152	138	142					6																	123384853		2203	4300	6503	123426552	SO:0001583	missense	0			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 212", "chromosome 6 open reading frame 213", "retinaldehyde binding protein 1-like 2"	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.931C>T	6.37:g.123384853C>T	ENSP00000275162:p.Arg311Cys	327	0.91	3					123426552	471	23.18	143	B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	HMMPfam_CRAL_TRIO,HMMSmart_SM00516,superfamily_CRAL/TRIO domain,PatternScan_SUGAR_TRANSPORT_1,HMMPfam_CRAL_TRIO_N,superfamily_CRAL/TRIO N-terminal domain	p.R311C	ENST00000275162.5	37	c.931	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606479	0.66445	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	T;T	0.80480	-1.38;-0.67	5.52	5.52	0.82312	.	0.211201	0.51477	D	0.000095	T	0.61714	0.2369	N	0.14661	0.345	0.80722	D	1	D	0.55172	0.97	B	0.40534	0.332	T	0.71862	-0.4464	10	0.72032	D	0.01	-13.719	19.7987	0.96497	0.0:1.0:0.0:0.0	.	311	Q5SYC1	CLVS2_HUMAN	C	311;165	ENSP00000275162:R311C;ENSP00000357423:R165C	ENSP00000275162:R311C	R	+	1	0	CLVS2	123426552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.070000	0.64376	2.767000	0.95098	0.655000	0.94253	CGC	-	NULL		0.388	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLBP1L2	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123426552	1	no_errors	NM_001010852.2	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	123384853	C	T	123384853	3	4	99	1	0	0	0	0	1	0	0	0	3572	536	19	1	949	1	CLVS2	6	123384853	Missense_Mutation	SNP	C	TCGA-AB-2907-03A-01D-0739-09	77193972	123384853	47730214	8	1087											
FKTN	2218	genome.wustl.edu	37	9	108363630	108363630	+	Splice_Site	SNP	G	G	T			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr9:108363630G>T	ENST00000223528.2	+	4	493		c.e4+1		FKTN_ENST00000448551.2_Splice_Site|FKTN_ENST00000540160.1_Splice_Site|FKTN_ENST00000357998.5_Splice_Site|FKTN_ENST00000602661.1_Splice_Site	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin						muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|nervous system development (GO:0007399)|regulation of protein glycosylation (GO:0060049)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	transferase activity (GO:0016740)	p.?(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GAAGAATGAGGTAAGTGACTT	0.328																																						dbGAP											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	9																																								107403451	SO:0001630	splice_region_variant	0				CCDS6766.1	9q31-q33	2014-09-17	2007-11-21	2007-11-21	ENSG00000106692	ENSG00000106692			3622	protein-coding gene	gene with protein product		607440	"Fukuyama type congenital muscular dystrophy (fukutin)"	FCMD		8275093, 17036286, 17044012	Standard	NM_001079802		Approved	LGMD2M	uc004bcs.3	O75072	OTTHUMG00000020425	ENST00000223528.2:c.369+1G>T	9.37:g.108363630G>T		162	0.61	1					107403451	314	24.52	102	B4DUX9|J3KP13|Q3MIJ1|Q96TE1|Q9P295	Splice_Site	SNP	-	e3+1	ENST00000223528.2	37	c.369+1	CCDS6766.1	9	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164545	0.78339	.	.	ENSG00000106692	ENST00000223528;ENST00000448551;ENST00000540160;ENST00000357998;ENST00000374705	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9897	0.92786	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FKTN	107403451	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.951000	0.87819	2.732000	0.93576	0.563000	0.77884	.	-	-		0.328	FKTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKTN	protein_coding	OTTHUMT00000053505.1	G	NM_006731	Intron	107403451	1	no_errors	NM_001079802.1	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	108363630	G	T	108363630	5	4	99	1	0	0	0	0	0	0	1	0	5919	1275	44	4	380	4	FKTN	9	108363630	Splice_Site	SNP	G	TCGA-AB-2907-03A-01D-0739-09		108363630	32849801	9	1088											
GDF10	2662	genome.wustl.edu	37	10	48429357	48429357	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr10:48429357G>A	ENST00000224605.2	-	2	794	c.529C>T	c.(529-531)Ctc>Ttc	p.L177F		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	177					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)	p.L177F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTCTGCGAGAGGCTGCGGAAG	0.721																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											15	21	19					10																	48429357		2195	4288	6483	48049363	SO:0001583	missense	0			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"Endogenous ligands"	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.529C>T	10.37:g.48429357G>A	ENSP00000224605:p.Leu177Phe	85	1.16	1					48049363	30	44.44	24	Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1,superfamily_Cystine-knot cytokines	p.L177F	ENST00000224605.2	37	c.529	CCDS7220.1	10	.	.	.	.	.	.	.	.	.	.	G	6.056	0.378589	0.11466	.	.	ENSG00000107623	ENST00000224605	T	0.76186	-1.0	5.44	1.24	0.21308	.	0.519989	0.19990	N	0.101583	T	0.63260	0.2496	L	0.55481	1.735	0.09310	N	1	B	0.22211	0.066	B	0.20184	0.028	T	0.49679	-0.8914	9	.	.	.	.	6.1518	0.20316	0.0833:0.522:0.2703:0.1243	.	177	P55107	BMP3B_HUMAN	F	177	ENSP00000224605:L177F	.	L	-	1	0	GDF10	48049363	0.051000	0.20477	0.446000	0.26920	0.238000	0.25445	0.280000	0.18790	0.263000	0.21812	-0.266000	0.10368	CTC	-	NULL		0.721	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF10	protein_coding	OTTHUMT00000047884.1	G	NM_004962		48049363	-1	no_errors	NM_004962.2	genbank	human	reviewed	54_36p	missense	SNP	0.005	A	A	48429357	G	A	48429357	3	1	99	1	0	0	0	0	1	0	0	0	6311	1000	35	2	915	2	GDF10	10	48429357	Missense_Mutation	SNP	G	TCGA-AB-2907-03A-01D-0739-09		48429357	87105390	10	1089											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q|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	103	103					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	50	1.92	1					88432938	49	30.99	22	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	T	90631934	C	T	90631934	3	4	99	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2907-03A-01D-0739-09		90631934	11899458	11	1090											
ZNF236	7776	genome.wustl.edu	37	18	74580744	74580744	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr18:74580744C>G	ENST00000253159.8	+	4	659	c.461C>G	c.(460-462)gCc>gGc	p.A154G	ZNF236_ENST00000320610.9_Missense_Mutation_p.A156G|ZNF236_ENST00000583095.1_3'UTR	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	154					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A154G(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGGCAGCATGCCTGCAAGGCC	0.532																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	18											97	103	101					18																	74580744		2010	4191	6201	72709732	SO:0001583	missense	0			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"Zinc fingers, C2H2-type"	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.461C>G	18.37:g.74580744C>G	ENSP00000253159:p.Ala154Gly	308	0.65	2					72709732	154	31.14	71	B2RTX9|Q9UL37	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A154G	ENST00000253159.8	37	c.461	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	C	3.904	-0.021488	0.07634	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.51817	0.69;0.69	5.17	3.39	0.38822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.701009	0.13310	N	0.397559	T	0.35998	0.0951	N	0.21324	0.655	0.19775	N	0.999958	B;B	0.29212	0.237;0.042	B;B	0.37731	0.257;0.089	T	0.33548	-0.9864	10	0.28530	T	0.3	.	7.4377	0.27164	0.0:0.6046:0.2414:0.154	.	154;154	Q9NWI2;Q9UL36	.;ZN236_HUMAN	G	154	ENSP00000253159:A154G;ENSP00000444524:A154G	ENSP00000253159:A154G	A	+	2	0	ZNF236	72709732	0.523000	0.26274	0.091000	0.20842	0.176000	0.22953	1.019000	0.30014	0.578000	0.29487	-0.222000	0.12452	GCC	-	HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.532	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	protein_coding	OTTHUMT00000445776.1	C			72709732	1	no_errors	NM_007345.3	genbank	human	validated	54_36p	missense	SNP	0.953	G	G	74580744	C	G	74580744	3	3	99	1	0	0	0	0	1	0	0	0	17786	739	26	4	475	4	ZNF236	18	74580744	Missense_Mutation	SNP	C	TCGA-AB-2907-03A-01D-0739-09		74580744	3496504	12	1091											
ZNF324B	388569	genome.wustl.edu	37	19	58967602	58967602	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr19:58967602G>A	ENST00000336614.4	+	4	1398	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	ZNF324B_ENST00000391696.1_Missense_Mutation_p.G421S|ZNF324B_ENST00000545523.1_Missense_Mutation_p.G431S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G431S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCCCAGTGCGGCCGCTCCTT	0.672																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											41	46	44					19																	58967602		2202	4300	6502	63659414	SO:0001583	missense	0			AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"Zinc fingers, C2H2-type", "-"	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1291G>A	19.37:g.58967602G>A	ENSP00000337473:p.Gly431Ser	207	2.82	6					63659414	54	28	21	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.G431S	ENST00000336614.4	37	c.1291	CCDS33138.1	19	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340043	0.41398	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.20463	2.07;2.07;2.07	3.07	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42682	D	0.000680	T	0.41766	0.1173	M	0.68593	2.085	0.35828	D	0.825114	D;D	0.89917	1.0;0.997	D;P	0.97110	1.0;0.874	T	0.55237	-0.8172	10	0.59425	D	0.04	.	11.9317	0.52849	0.0:0.0:1.0:0.0	.	431;421	Q6AW86;C9JTQ8	Z324B_HUMAN;.	S	431;431;421	ENSP00000337473:G431S;ENSP00000438930:G431S;ENSP00000375578:G421S	ENSP00000337473:G431S	G	+	1	0	ZNF324B	63659414	0.997000	0.39634	0.141000	0.22245	0.030000	0.12068	3.198000	0.51035	1.703000	0.51240	0.591000	0.81541	GGC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.672	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF324B	protein_coding	OTTHUMT00000467038.1	G	NM_207395		63659414	1	no_errors	NM_207395.2	genbank	human	validated	54_36p	missense	SNP	0.719	A	A	58967602	G	A	58967602	3	1	99	1	0	0	0	0	1	0	0	0	17842	1116	39	1	1301	1	ZNF324B	19	58967602	Missense_Mutation	SNP	G	TCGA-AB-2907-03A-01D-0739-09		58967602	161381	13	1092											
ASXL1	171023	genome.wustl.edu	37	20	31024758	31024758	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr20:31024758C>T	ENST00000375687.4	+	13	4667	c.4243C>T	c.(4243-4245)Cga>Tga	p.R1415*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R1410*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1415					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1415*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAAATTACCCCGAGAGCCAGG	0.542			"F, N, Mis"		"MDS, CMML"																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	20											105	109	108					20																	31024758		2203	4300	6503	30488419	SO:0001587	stop_gained	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.4243C>T	20.37:g.31024758C>T	ENSP00000364839:p.Arg1415*	86	0	0					30488419	35	35.19	19	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	NULL	p.R1415*	ENST00000375687.4	37	c.4243	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	43	9.990302	0.99312	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	4.42	2.28	0.28536	.	0.558909	0.16371	N	0.217335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.5323	6.252	0.20852	0.5194:0.3873:0.0:0.0933	.	.	.	.	X	1415;1415;1415;1336;1410	.	ENSP00000305119:R1410X	R	+	1	2	ASXL1	30488419	1.000000	0.71417	0.996000	0.52242	0.773000	0.43773	0.841000	0.27613	0.638000	0.30545	-0.136000	0.14681	CGA	-	NULL		0.542	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	C	NM_015338		30488419	1	no_errors	NM_015338.4	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	31024758	C	T	31024758	4	4	99	1	0	0	0	0	0	1	0	0	1066	644	23	1	4299	1	ASXL1	20	31024758	Nonsense_Mutation	SNP	C	TCGA-AB-2907-03A-01D-0739-09		31024758	32000762	14	1093											
RUNX1	861	genome.wustl.edu	37	21	36231877	36231877	+	Splice_Site	SNP	T	T	G			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr21:36231877T>G	ENST00000344691.4	-	3	2005		c.e3-2		RUNX1_ENST00000399240.1_Splice_Site|RUNX1_ENST00000300305.3_Splice_Site|RUNX1_ENST00000486278.2_Splice_Site|RUNX1_ENST00000437180.1_Splice_Site|RUNX1_ENST00000358356.5_Splice_Site|RUNX1_ENST00000325074.5_Splice_Site	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1						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.?(1)		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						AGCTTTTCCCTGTGGGGACAC	0.483			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	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	21											242	215	224					21																	36231877		2203	4300	6503	35153747	SO:0001630	splice_region_variant	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.428-2A>C	21.37:g.36231877T>G		128	0	0					35153747	90	44.44	72	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Splice_Site	SNP	-	e5-2	ENST00000344691.4	37	c.509-2	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	T	14.07	2.425604	0.43020	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8771	0.57996	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RUNX1	35153747	1.000000	0.71417	0.999000	0.59377	0.582000	0.36321	7.698000	0.84413	1.923000	0.55706	0.528000	0.53228	.	-	-		0.483	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	T		Intron	35153747	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G	G	36231877	T	G	36231877	5	3	99	1	0	0	0	0	0	0	1	0	13746	1594	55	5	984	5	RUNX1	21	36231877	Splice_Site	SNP	T	TCGA-AB-2907-03A-01D-0739-09		36231877	11898018	15	1094											
UQCR10	29796	genome.wustl.edu	37	22	30163401	30163401	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2907-03A-01D-0739-09	TCGA-AB-2907-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f0881a0-c9bc-4636-a99f-36551df20deb	a29c2d2b-1e78-443f-aac3-def013f368ca	g.chr22:30163401C>A	ENST00000330029.6	+	1	44	c.14C>A	c.(13-15)aCg>aAg	p.T5K	ZMAT5_ENST00000344318.3_5'Flank|ZMAT5_ENST00000397781.3_5'Flank|UQCR10_ENST00000401406.3_Missense_Mutation_p.T5K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	5					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)	ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.T5K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						GCGGCCGCGACGTTGACTTCG	0.602																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	22											48	56	53					22																	30163401		2054	4190	6244	28493401	SO:0001583	missense	0			AB028598	CCDS46680.1, CCDS46681.1	22q12.2	2011-07-04			ENSG00000184076	ENSG00000184076		"Mitochondrial respiratory chain complex / Complex III"	30863	protein-coding gene	gene with protein product	"ubiquinol-cytochrome c reductase, complex III subunit X, 7.2kDa", "complex III subunit 9"	610843				11042152	Standard	NM_013387		Approved	HSPC051, UCRC, QCR9, UCCR7.2	uc003agq.1	Q9UDW1	OTTHUMG00000151283	ENST00000330029.6:c.14C>A	22.37:g.30163401C>A	ENSP00000332887:p.Thr5Lys	141	0.7	1					28493401	75	34.78	40	B5MCM5|Q9T2V6	Missense_Mutation	SNP	HMMPfam_UCR_UQCRX_QCR9,superfamily_Ubiquinol_cytC_Reductase_QCR9	p.T5K	ENST00000330029.6	37	c.14	CCDS46680.1	22	.	.	.	.	.	.	.	.	.	.	C	14.64	2.595483	0.46318	.	.	ENSG00000184076	ENST00000332801;ENST00000330029;ENST00000401406;ENST00000406782	T;T	0.42900	0.96;0.96	5.73	4.65	0.58169	.	0.532223	0.15837	N	0.242222	T	0.28830	0.0715	.	.	.	0.09310	N	1	P;P	0.38020	0.561;0.615	B;B	0.32724	0.103;0.151	T	0.14420	-1.0473	9	0.39692	T	0.17	-0.692	11.2595	0.49074	0.182:0.818:0.0:0.0	.	5;5	Q9UDW1;Q9UDW1-2	QCR9_HUMAN;.	K	5	ENSP00000332887:T5K;ENSP00000384962:T5K	ENSP00000332887:T5K	T	+	2	0	UQCR10	28493401	0.012000	0.17670	0.011000	0.14972	0.005000	0.04900	1.418000	0.34782	2.720000	0.93068	0.558000	0.71614	ACG	-	superfamily_Ubiquinol_cytC_Reductase_QCR9		0.602	UQCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCRC	protein_coding	OTTHUMT00000322081.1	C	NM_013387		28493401	1	no_errors	NM_013387.1	genbank	human	validated	54_36p	missense	SNP	0.003	A	A	30163401	C	A	30163401	3	1	99	1	0	0	0	0	1	0	0	0	17013	536	19	4	16	4	UQCR10	22	30163401	Missense_Mutation	SNP	C	TCGA-AB-2907-03A-01D-0739-09		30163401	21141165	16	1095											
ARID1A	8289	genome.wustl.edu	37	1	27101691	27101691	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr1:27101691G>A	ENST00000324856.7	+	18	5344	c.4973G>A	c.(4972-4974)cGg>cAg	p.R1658Q	ARID1A_ENST00000457599.2_Missense_Mutation_p.R1441Q|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1275Q	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1658			R -> W (found in a gastric cancer sample; somatic mutation). {ECO:0000269|PubMed:22009941}.		androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGAGGAGGCGGCTCACAATG	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0			1											37	39	39					1																	27101691		2202	4291	6493	26974278	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"-"	11110	protein-coding gene	gene with protein product		603024	"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)"	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4973G>A	1.37:g.27101691G>A	ENSP00000320485:p.Arg1658Gln	204	2.86	6		64	49.21	62	26974278	150	39.36	98	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like	p.R1658Q	ENST00000324856.7	37	c.4973	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460022	0.84317	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.04317	3.8;3.73;3.65	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.22975	0.0555	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.991;0.99;0.978	T	0.00334	-1.1809	10	0.72032	D	0.01	-14.1321	18.5061	0.90898	0.0:0.0:1.0:0.0	.	1275;1658;1441;1311	O14497-3;O14497;O14497-2;Q4LE49	.;ARI1A_HUMAN;.;.	Q	1658;1441;1275	ENSP00000320485:R1658Q;ENSP00000387636:R1441Q;ENSP00000363267:R1275Q	ENSP00000320485:R1658Q	R	+	2	0	ARID1A	26974278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.356000	0.79445	2.619000	0.88677	0.655000	0.94253	CGG	-	NULL		0.532	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	protein_coding	OTTHUMT00000011437.2	G	NM_139135		26974278	1	no_errors	NM_006015.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	27101691	G	A	27101691	3	1	100	1	0	0	0	0	1	0	0	0	913	1116	39	1	5043	1	ARID1A	1	27101691	Missense_Mutation	SNP	G	TCGA-AB-2908-03A-01W-0745-08		27101691	222148930	1	1096											
SLAMF7	57823	genome.wustl.edu	37	1	160718302	160718302	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr1:160718302A>G	ENST00000368043.3	+	2	411	c.374A>G	c.(373-375)tAc>tGc	p.Y125C	SLAMF7_ENST00000359331.4_Missense_Mutation_p.Y125C|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000441662.2_Missense_Mutation_p.Y125C|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000444090.2_Missense_Mutation_p.Y125C	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	125					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCATGTCTACGGTGAGCAA	0.498																																						dbGAP											0			1											69	61	64					1																	160718302		2203	4300	6503	158984926	SO:0001583	missense	0			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"CD molecules", "Immunoglobulin superfamily / V-set domain containing"	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.374A>G	1.37:g.160718302A>G	ENSP00000357022:p.Tyr125Cys	347	2.53	9		31	0	0	158984926	295	34.29	155	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin	p.Y125C	ENST00000368043.3	37	c.374	CCDS1209.1	1	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689017	0.48097	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	T;T;T;T	0.58797	1.91;1.91;0.31;0.31	4.72	4.72	0.59763	Immunoglobulin subtype (1);	0.202523	0.42420	D	0.000707	T	0.72415	0.3457	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.993;0.999	D;D;P;P	0.79108	0.992;0.992;0.789;0.868	T	0.77882	-0.2422	9	.	.	.	-11.9512	10.7795	0.46369	1.0:0.0:0.0:0.0	.	125;125;125;125	B4DPY3;B4DPU4;A8K3U1;Q9NQ25	.;.;.;SLAF7_HUMAN	C	125	ENSP00000416592:Y125C;ENSP00000405605:Y125C;ENSP00000357022:Y125C;ENSP00000352281:Y125C	.	Y	+	2	0	SLAMF7	158984926	0.993000	0.37304	0.990000	0.47175	0.117000	0.20001	4.204000	0.58460	2.096000	0.63516	0.528000	0.53228	TAC	-	HMMPfam_V-set,superfamily_Immunoglobulin		0.498	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	protein_coding	OTTHUMT00000060464.1	A	NM_021181		158984926	1	no_errors	NM_021181.3	genbank	human	provisional	54_36p	missense	SNP	0.922	G	G	160718302	A	G	160718302	3	3	100	1	0	0	0	0	1	0	0	0	14369	391	14	3	380	3	SLAMF7	1	160718302	Missense_Mutation	SNP	A	TCGA-AB-2908-03A-01W-0745-08	133616611	160718302	88532319	2	1097											
C1orf105	92346	genome.wustl.edu	37	1	172425583	172425583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	T	T	T	-	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr1:172425583delT	ENST00000367727.4	+	4	425	c.227delT	c.(226-228)ctgfs	p.L77fs	C1orf105_ENST00000367725.4_Frame_Shift_Del_p.L67fs|C1orf105_ENST00000367726.1_Intron	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	77										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GACTCCATGCTGCTCAGAAAC	0.532																																						dbGAP											0			1											131	125	127					1																	172425583		2203	4300	6503	170692206	SO:0001589	frameshift_variant	0			AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.227delT	1.37:g.172425583delT	ENSP00000356700:p.Leu77fs	164	1.2	2		0	0	0	170692206	125	34.2	66	Q8IY02	Frame_Shift_Del	DEL	NULL	p.L76fs	ENST00000367727.4	37	c.227	CCDS1301.1	1																																																																																			-	NULL		0.532	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	protein_coding	OTTHUMT00000084062.2	T	NM_139240		170692206	1	no_errors	NM_139240.2	genbank	human	predicted	54_36p	frame_shift_del	DEL	0.060	-	-	172425583	T	-	172425583	7	5	100	1	0	1	0	1	0	0	0	0	1979	1580	55	0	241	0	C1orf105	1	172425583	Frame_Shift_Del	DEL	T	TCGA-AB-2908-03A-01W-0745-08	11707281	172425583	76825038	3	1098											
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55	50	52		2644,2077,2644	5.7	1	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	99	3.88	4		37	51.32	39	25310747	91	41.67	65	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25457243	G	A	25457243	3	1	100	1	0	0	0	0	1	0	0	0	4676	1116	39	1	98	1	DNMT3A	2	25457243	Missense_Mutation	SNP	G	TCGA-AB-2908-03A-01W-0745-08		25457243	217742130	4	1099											
TET2	54790	genome.wustl.edu	37	4	106164778	106164778	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr4:106164778C>T	ENST00000540549.1	+	6	4506	c.3646C>T	c.(3646-3648)Cga>Tga	p.R1216*	TET2_ENST00000513237.1_Nonsense_Mutation_p.R1237*|TET2_ENST00000545826.1_Silent_p.S1185S|TET2_ENST00000380013.4_Nonsense_Mutation_p.R1216*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1216					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGTGCGGGAGCGAGCTGGCCA	0.557			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4											179	172	174					4																	106164778		692	1591	2283	106384227	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3646C>T	4.37:g.106164778C>T	ENSP00000442788:p.Arg1216*	67	4.29	3		8	50	8	106384227	119	36.98	71	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.R18*	ENST00000540549.1	37	c.52	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	47	13.282312	0.99732	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	.	.	.	5.5	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.7953	0.69873	0.2633:0.7367:0.0:0.0	.	.	.	.	X	1216;1237;1216	.	ENSP00000369351:R1216X	R	+	1	2	TET2	106384227	1.000000	0.71417	0.947000	0.38551	0.302000	0.27658	3.037000	0.49775	0.668000	0.31126	-0.953000	0.02652	CGA	-	NULL		0.557	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106384227	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	nonsense	SNP	1.000	T	T	106164778	C	T	106164778	4	4	100	1	0	0	0	0	0	1	0	0	15767	760	27	1	3749	1	TET2	4	106164778	Nonsense_Mutation	SNP	C	TCGA-AB-2908-03A-01W-0745-08		106164778	84989498	5	1100											
KDM3B	51780	genome.wustl.edu	37	5	137727800	137727800	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr5:137727800delC	ENST00000314358.5	+	8	2679	c.2479delC	c.(2479-2481)cagfs	p.Q827fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.Q483fs	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	827					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTCTGAGGAGCAGCTGCAGGC	0.552																																						dbGAP											0			5											66	72	70					5																	137727800		2203	4300	6503	137755699	SO:0001589	frameshift_variant	0			AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"Chromatin-modifying enzymes / K-demethylases"	1337	protein-coding gene	gene with protein product		609373	"chromosome 5 open reading frame 7", "jumonji domain containing 1B"	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.2479delC	5.37:g.137727800delC	ENSP00000326563:p.Gln827fs	106	0.93	1		6	72.41	21	137755699	42	48.39	45	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Frame_Shift_Del	DEL	HMMSmart_SM00558,HMMPfam_JmjC,superfamily_Clavaminate synthase-like	p.Q827fs	ENST00000314358.5	37	c.2479	CCDS34242.1	5																																																																																			-	NULL		0.552	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD1B	protein_coding	OTTHUMT00000373597.1	C	NM_016604		137755699	1	no_errors	NM_016604.3	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-	-	137727800	C	-	137727800	7	5	100	1	0	1	0	1	0	0	0	0	8127	711	25	0	2509	0	KDM3B	5	137727800	Frame_Shift_Del	DEL	C	TCGA-AB-2908-03A-01W-0745-08		137727800	43187460	6	1101											
PCDHA8	56140	genome.wustl.edu	37	5	140222758	140222758	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr5:140222758C>A	ENST00000531613.1	+	1	1852	c.1852C>A	c.(1852-1854)Cct>Act	p.P618T	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P618T|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAGCAGCCCTCGCATCCC	0.672																																						dbGAP											0			5											95	93	94					5																	140222758		2197	4272	6469	140202942	SO:0001583	missense	0			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"Cadherins / Protocadherins : Clustered"	8674	other	complex locus constituent	"KIAA0345-like 6"	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1852C>A	5.37:g.140222758C>A	ENSP00000434655:p.Pro618Thr	36	0	0					140202942	7	80.56	29	B9EGT7|O75281	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.P618T	ENST00000531613.1	37	c.1852	CCDS54919.1	5	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.782029	0.00634	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.20881	2.04;2.04	2.93	1.0	0.19881	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11153	0.0272	N	0.13198	0.31	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27468	-1.0073	9	0.52906	T	0.07	.	5.3381	0.15969	0.1781:0.368:0.4539:0.0	.	618;618	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	618	ENSP00000434655:P618T;ENSP00000367363:P618T	ENSP00000367363:P618T	P	+	1	0	PCDHA8	140202942	0.004000	0.15560	0.000000	0.03702	0.018000	0.09664	0.000000	0.12993	0.080000	0.16959	-0.702000	0.03669	CCT	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.672	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA8	protein_coding	OTTHUMT00000372830.2	C	NM_018911		140202942	1	no_errors	NM_018911.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A	A	140222758	C	A	140222758	3	1	100	1	0	0	0	0	1	0	0	0	11530	623	22	4	1854	4	PCDHA8	5	140222758	Missense_Mutation	SNP	C	TCGA-AB-2908-03A-01W-0745-08	2494958	140222758	40692502	7	1102											
STK32A	202374	genome.wustl.edu	37	5	146752756	146752756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr5:146752756C>T	ENST00000397936.3	+	10	1135	c.802C>T	c.(802-804)Cga>Tga	p.R268*	STK32A_ENST00000398523.3_Nonsense_Mutation_p.R268*	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	268	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.R268R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGACCAACGATTTTCTCA	0.373																																						dbGAP											1	Substitution - coding silent(1)	prostate(1)	5											195	186	189					5																	146752756		1568	3582	5150	146732949	SO:0001587	stop_gained	0				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.802C>T	5.37:g.146752756C>T	ENSP00000381030:p.Arg268*	220	0.45	1					146732949	69	60.67	108	B3KSY0	Nonsense_Mutation	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R268*	ENST00000397936.3	37	c.802	CCDS47299.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.783377	0.96937	.	.	ENSG00000169302	ENST00000397936;ENST00000398523	.	.	.	5.52	3.53	0.40419	.	0.000000	0.38837	N	0.001549	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.1076	0.72332	0.2674:0.7326:0.0:0.0	.	.	.	.	X	268	.	ENSP00000381030:R268X	R	+	1	2	STK32A	146732949	0.989000	0.36119	0.943000	0.38184	0.989000	0.77384	2.612000	0.46343	1.317000	0.45149	0.591000	0.81541	CGA	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.373	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32A	protein_coding	OTTHUMT00000373306.1	C	NM_145001		146732949	1	no_errors	ENST00000306304	ensembl	human	known	54_36p	nonsense	SNP	0.997	T	T	146752756	C	T	146752756	4	4	100	1	0	0	0	0	0	1	0	0	15296	528	19	1	869	1	STK32A	5	146752756	Nonsense_Mutation	SNP	C	TCGA-AB-2908-03A-01W-0745-08	6529998	146752756	34162504	8	1103											
GRM3	2913	genome.wustl.edu	37	7	86468368	86468368	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr7:86468368G>C	ENST00000361669.2	+	4	2637	c.1538G>C	c.(1537-1539)tGt>tCt	p.C513S	GRM3_ENST00000546348.1_Missense_Mutation_p.C105S|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.C385S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	513					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					AGCGACCCCTGTGCCCCCAAT	0.512																																					GBM(52;969 1098 3139 52280)	dbGAP											0			7											90	83	85					7																	86468368		2203	4300	6503	86306304	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1538G>C	7.37:g.86468368G>C	ENSP00000355316:p.Cys513Ser	155	3.12	5					86306304	106	39.78	72	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I	p.C513S	ENST00000361669.2	37	c.1538	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.317966	0.81469	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.99494	-6.01;-5.88;-6.01	6.17	6.17	0.99709	GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	H	0.98276	4.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.97216	0.9874	10	0.87932	D	0	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	105;385;513	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	S	513;105;385	ENSP00000355316:C513S;ENSP00000444064:C105S;ENSP00000441407:C385S	ENSP00000355316:C513S	C	+	2	0	GRM3	86306304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGT	-	HMMPfam_NCD3G,superfamily_Periplasmic binding protein-like I		0.512	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G			86306304	1	no_errors	NM_000840.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	86468368	G	C	86468368	3	2	100	1	0	0	0	0	1	0	0	0	6798	1377	48	4	1548	4	GRM3	7	86468368	Missense_Mutation	SNP	G	TCGA-AB-2908-03A-01W-0745-08		86468368	72670295	9	1104											
ESCO2	157570	genome.wustl.edu	37	8	27634598	27634598	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr8:27634598G>A	ENST00000305188.8	+	3	1011	c.773G>A	c.(772-774)aGg>aAg	p.R258K	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	258					chromosome segregation (GO:0007059)|double-strand break repair (GO:0006302)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|post-translational protein acetylation (GO:0034421)|protein localization to chromatin (GO:0071168)|regulation of DNA replication (GO:0006275)	chromatin (GO:0000785)|chromocenter (GO:0010369)|Golgi apparatus (GO:0005794)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|XY body (GO:0001741)	lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TTTGCGACAAGGCAAGTGCCA	0.373									SC Phocomelia syndrome																													dbGAP											0			8											54	58	57					8																	27634598		2203	4299	6502	27690517	SO:0001583	missense	0	Familial Cancer Database	SC-Pseudothalidomide s., incl.: Roberts s.	AF306679	CCDS34872.1	8p21.1	2013-05-02	2013-05-02		ENSG00000171320	ENSG00000171320			27230	protein-coding gene	gene with protein product		609353	"Roberts syndrome", "establishment of cohesion 1 homolog 2 (S. cerevisiae)"	RBS		15958495, 16775838, 15821733, 16380922	Standard	XR_247122		Approved	EFO2	uc003xgg.3	Q56NI9	OTTHUMG00000163901	ENST00000305188.8:c.773G>A	8.37:g.27634598G>A	ENSP00000306999:p.Arg258Lys	70	2.78	2		4	50	4	27690517	108	36.78	64	B3KW59|Q49AP4	Missense_Mutation	SNP	NULL	p.R258K	ENST00000305188.8	37	c.773	CCDS34872.1	8	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.284674	0.01398	.	.	ENSG00000171320	ENST00000305188	T	0.61742	0.08	5.83	0.216	0.15258	.	1.066690	0.07062	N	0.833827	T	0.43722	0.1260	L	0.39898	1.24	0.19300	N	0.999978	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.26430	-1.0103	10	0.08599	T	0.76	0.0512	8.4723	0.32993	0.4649:0.0:0.5351:0.0	.	258;258	E5RFE4;Q56NI9	.;ESCO2_HUMAN	K	258	ENSP00000306999:R258K	ENSP00000306999:R258K	R	+	2	0	ESCO2	27690517	0.021000	0.18746	0.000000	0.03702	0.024000	0.10985	0.985000	0.29578	-0.267000	0.09325	-0.229000	0.12294	AGG	-	NULL		0.373	ESCO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESCO2	protein_coding	OTTHUMT00000376276.1	G	NM_001017420		27690517	1	no_errors	NM_001017420.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A	A	27634598	G	A	27634598	3	1	100	1	0	0	0	0	1	0	0	0	5249	1000	35	2	779	2	ESCO2	8	27634598	Missense_Mutation	SNP	G	TCGA-AB-2908-03A-01W-0745-08		27634598	118729424	10	1105											
FLJ43860	389690	genome.wustl.edu	37	8	142481264	142481264	+	RNA	SNP	G	G	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr8:142481264G>T	ENST00000430863.1	-	0	1977					NM_207414.2	NP_997297.2	Q6ZUA9	MROH5_HUMAN	maestro heat-like repeat family member 5																		CCCACCAATTGCCCAATCCTT	0.572																																						dbGAP											0			8											106	108	107					8																	142481264		1998	4181	6179	142550446			0					8q24.3	2012-12-20			ENSG00000226807	ENSG00000226807		"maestro heat-like repeat containing"	42976	protein-coding gene	gene with protein product							Standard	NM_207414		Approved	FLJ43860	uc003ywi.2	Q6ZUA9	OTTHUMG00000155944		8.37:g.142481264G>T		325	0.31	1					142550446	224	32.54	110		Missense_Mutation	SNP	HMMPfam_HEAT,superfamily_ARM repeat	p.Q633K	ENST00000430863.1	37	c.1897		8																																																																																			-	superfamily_ARM repeat		0.572	MROH5-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	FLJ43860	polymorphic_pseudogene	OTTHUMT00000342412.4	G	NM_207414		142550446	-1	pseudogene	NM_207414.2	genbank	human	validated	54_36p	missense	SNP	0.639	T	T	142481264	G	T	142481264	1	4	100	0	1	0	0	0	0	0	0	0	5930	1328	46	4		4	FLJ43860	8	142481264	RNA	SNP	G	TCGA-AB-2908-03A-01W-0745-08	114846666	142481264	3882758	11	1106											
SMC3	9126	genome.wustl.edu	37	10	112361832	112361832	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr10:112361832A>G	ENST00000361804.4	+	25	3127	c.3001A>G	c.(3001-3003)Ata>Gta	p.I1001V		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1001					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGAAAAGTTAATAAAGCGTCA	0.343																																						dbGAP											0			10											70	74	73					10																	112361832		2202	4300	6502	112351822	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.3001A>G	10.37:g.112361832A>G	ENSP00000354720:p.Ile1001Val	46	2.13	1		25	52.83	28	112351822	46	52.04	51	A8K156|O60464|Q5T482	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain	p.I1001V	ENST00000361804.4	37	c.3001	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	A	9.430	1.085371	0.20390	.	.	ENSG00000108055	ENST00000361804	T	0.74947	-0.89	4.99	4.99	0.66335	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.51890	0.1701	N	0.02697	-0.525	0.80722	D	1	B	0.15930	0.015	B	0.18871	0.023	T	0.49643	-0.8918	10	0.25751	T	0.34	.	14.976	0.71273	1.0:0.0:0.0:0.0	.	1001	Q9UQE7	SMC3_HUMAN	V	1001	ENSP00000354720:I1001V	ENSP00000354720:I1001V	I	+	1	0	SMC3	112351822	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.910000	0.92685	2.013000	0.59113	0.477000	0.44152	ATA	-	HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	A	NM_005445		112351822	1	no_errors	NM_005445.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	112361832	A	G	112361832	3	3	100	1	0	0	0	0	1	0	0	0	14784	101	4	3	3099	3	SMC3	10	112361832	Missense_Mutation	SNP	A	TCGA-AB-2908-03A-01W-0745-08		112361832	23172915	12	1107											
TMPRSS13	84000	genome.wustl.edu	37	11	117785122	117785122	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr11:117785122C>T	ENST00000430170.2	-	4	751	c.664G>A	c.(664-666)Gac>Aac	p.D222N	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.D222N|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.D187N|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.D222N|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.D222N	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	222	LDL-receptor class A.|SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCCAGCTCGTCACTCTTCAGC	0.592																																						dbGAP											0			11											185	209	201					11																	117785122		2199	4284	6483	117290332	SO:0001583	missense	0			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"Serine peptidases / Transmembrane"	29808	protein-coding gene	gene with protein product		610050	"transmembrane protease, serine 11"	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.664G>A	11.37:g.117785122C>T	ENSP00000387702:p.Asp222Asn	190	6.86	14		5	0	0	117290332	105	43.55	81	B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,HMMSmart_SM00202,superfamily_SRCR-like,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.D222N	ENST00000430170.2	37	c.664	CCDS58185.1	11	.	.	.	.	.	.	.	.	.	.	C	31	5.104680	0.94245	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000005	D	0.98795	0.9594	M	0.90870	3.155	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99589	1.0975	10	0.87932	D	0	.	17.9506	0.89052	0.0:1.0:0.0:0.0	.	217;222	Q9BYE2-4;E9PRA0	.;.	N	187;217;222;222;222;222	ENSP00000435813:D187N;ENSP00000434279:D222N;ENSP00000387702:D222N;ENSP00000394114:D222N;ENSP00000436502:D222N	ENSP00000337113:D217N	D	-	1	0	TMPRSS13	117290332	1.000000	0.71417	0.453000	0.27007	0.985000	0.73830	5.029000	0.64121	2.771000	0.95319	0.561000	0.74099	GAC	-	NULL		0.592	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	TMPRSS13	protein_coding	OTTHUMT00000392318.1	C	NM_032046		117290332	-1	no_errors	NM_001077263.1	genbank	human	validated	54_36p	missense	SNP	0.962	T	T	117785122	C	T	117785122	3	4	100	1	0	0	0	0	1	0	0	0	16242	826	29	2	1079	2	TMPRSS13	11	117785122	Missense_Mutation	SNP	C	TCGA-AB-2908-03A-01W-0745-08		117785122	17221394	13	1108											
POLE2	5427	genome.wustl.edu	37	14	50118023	50118023	+	Silent	SNP	G	G	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr14:50118023G>T	ENST00000216367.5	-	16	1383	c.1284C>A	c.(1282-1284)gtC>gtA	p.V428V	POLE2_ENST00000539565.2_Silent_p.V402V|POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000554396.1_Silent_p.V428V	NM_002692.3	NP_002683.2	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	428					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	epsilon DNA polymerase complex (GO:0008622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)				Cladribine(DB00242)	TAGGAAAACGGACGCAGTTTC	0.323																																						dbGAP											0			14											80	80	80					14																	50118023		2203	4300	6503	49187773	SO:0001819	synonymous_variant	0			AF025840	CCDS32073.1, CCDS55914.1, CCDS55915.1	14q21-q22	2012-05-18	2012-05-18		ENSG00000100479	ENSG00000100479		"DNA polymerases"	9178	protein-coding gene	gene with protein product	"DNA polymerase epsilon subunit B"	602670	"polymerase (DNA directed), epsilon 2 (p59 subunit)"			9405441, 9443964	Standard	NM_002692		Approved	DPE2	uc001wwu.3	P56282	OTTHUMG00000170813	ENST00000216367.5:c.1284C>A	14.37:g.50118023G>T		104	0	0		34	46.88	30	49187773	99	33.11	49	A0AV55|A4FU92|A4LBB7|A6NH58|B4DDE6|O43560	Silent	SNP	HMMPfam_DNA_pol_E_B	p.V428	ENST00000216367.5	37	c.1284	CCDS32073.1	14																																																																																			-	HMMPfam_DNA_pol_E_B		0.323	POLE2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	POLE2	protein_coding	OTTHUMT00000410512.1	G	NM_002692		49187773	-1	no_errors	NM_002692.2	genbank	human	provisional	54_36p	silent	SNP	1.000	T	T	50118023	G	T	50118023	2	4	100	1	0	0	0	0	0	0	0	1	12197	1161	41	4		4	POLE2	14	50118023	Silent	SNP	G	TCGA-AB-2908-03A-01W-0745-08		50118023	57231517	14	1109											
TJP1	7082	genome.wustl.edu	37	15	30000833	30000833	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr15:30000833A>G	ENST00000346128.6	-	25	5254	c.4780T>C	c.(4780-4782)Tct>Cct	p.S1594P	TJP1_ENST00000545208.2_Missense_Mutation_p.S1514P|TJP1_ENST00000356107.6_Missense_Mutation_p.S1594P|TJP1_ENST00000400011.2_Missense_Mutation_p.S1518P	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1594					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCATGGATAGAGAAAGTTTCA	0.408																																					Melanoma(77;681 1843 6309 6570)	dbGAP											0			15											140	129	133					15																	30000833		1848	4100	5948	27788125	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"zona occludens 1", "tight junction protein ZO-1"	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4780T>C	15.37:g.30000833A>G	ENSP00000281537:p.Ser1594Pro	150	2.6	4					27788125	127	36.18	72	B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	HMMPfam_ZU5,HMMSmart_SM00218,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,HMMPfam_SH3_2,HMMPfam_Gua_kin_assoc_C,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.S1594P	ENST00000346128.6	37	c.4780	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566115	0.65651	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.06687	3.27;3.33	6.17	6.17	0.99709	.	0.110132	0.64402	D	0.000005	T	0.12732	0.0309	L	0.56769	1.78	0.80722	D	1	P;P;P;P	0.52316	0.952;0.925;0.859;0.925	P;P;B;P	0.45712	0.475;0.491;0.372;0.491	T	0.00715	-1.1597	10	0.87932	D	0	.	9.5334	0.39207	0.7576:0.1239:0.0:0.1185	.	1587;1514;1594;1518	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	P	1594;1518;1594;1514;1514	ENSP00000281537:S1594P;ENSP00000382890:S1518P	ENSP00000281537:S1594P	S	-	1	0	TJP1	27788125	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	3.587000	0.53957	2.371000	0.80710	0.533000	0.62120	TCT	-	NULL		0.408	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	protein_coding	OTTHUMT00000268237.3	A	NM_003257		27788125	-1	no_errors	NM_003257.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	30000833	A	G	30000833	3	3	100	1	0	0	0	0	1	0	0	0	15926	304	11	3	482	3	TJP1	15	30000833	Missense_Mutation	SNP	A	TCGA-AB-2908-03A-01W-0745-08		30000833	72530559	15	1110											
CNTNAP4	85445	genome.wustl.edu	37	16	76523672	76523672	+	Missense_Mutation	SNP	G	G	A	rs372054509		TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr16:76523672G>A	ENST00000476707.1	+	12	2120	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.E657K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E585K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E609K			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	658	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGGTTTTTCGAGTATGTGGC	0.458																																						dbGAP											0			16						G	LYS/GLU,LYS/GLU	1,4395	2.1+/-5.4	0,1,2197	49	40	43		1753,1971	-2.2	0.4	16		43	0,8600		0,0,4300	no	missense,missense	CNTNAP4	NM_138994.3,NM_033401.3	56,56	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	585/1236,658/1309	76523672	1,12995	2198	4300	6498	75081173	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1981G>A	16.37:g.76523672G>A	ENSP00000417628:p.Glu661Lys	148	1.33	2					75081173	135	38.12	85	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00282,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2	p.E585K	ENST00000476707.1	37	c.1753		16	.	.	.	.	.	.	.	.	.	.	G	9.890	1.204022	0.22205	2.27E-4	0.0	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.55	-2.21	0.06973	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	.	.	.	.	T	0.16514	0.0397	.	.	.	0.28872	N	0.894875	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.35375	-0.9791	8	0.07482	T	0.82	.	5.0938	0.14723	0.4891:0.3038:0.2071:0.0	.	585;661;633;658	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	K	657;609;585;661	ENSP00000306893:E657K;ENSP00000439733:E609K;ENSP00000418741:E585K;ENSP00000417628:E661K	ENSP00000306893:E657K	E	+	1	0	CNTNAP4	75081173	0.129000	0.22400	0.400000	0.26346	0.985000	0.73830	0.598000	0.24074	-0.223000	0.09943	-0.252000	0.11476	GAG	-	superfamily_Concanavalin A-like lectins/glucanases		0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	G	NM_033401		75081173	1	no_errors	NM_138994.3	genbank	human	validated	54_36p	missense	SNP	0.993	A	A	76523672	G	A	76523672	3	1	100	1	0	0	0	0	1	0	0	0	3649	1059	37	1	2035	1	CNTNAP4	16	76523672	Missense_Mutation	SNP	G	TCGA-AB-2908-03A-01W-0745-08		76523672	13831081	16	1111											
TP53	7157	genome.wustl.edu	37	17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr17:7576897G>A	ENST00000269305.4	-	9	1138	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000420246.2_Nonsense_Mutation_p.Q317*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTTTGGCTGGGGAGAGGAG	0.473		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	46	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(4)|Substitution - Missense(3)|Insertion - Frameshift(1)|Unknown(1)	breast(7)|large_intestine(5)|skin(4)|bone(4)|upper_aerodigestive_tract(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(3)|ovary(3)|central_nervous_system(2)|lung(2)|NS(2)|pancreas(2)|thyroid(1)|stomach(1)|soft_tissue(1)|liver(1)|endometrium(1)|oesophagus(1)	17											129	119	122					17																	7576897		2203	4300	6503	7517622	SO:0001587	stop_gained	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.949C>T	17.37:g.7576897G>A	ENSP00000269305:p.Gln317*	409	0.24	1		43	12.24	6	7517622	198	39.94	133	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.Q317*	ENST00000269305.4	37	c.949	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	29.7	5.032676	0.93575	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.96	2.84	0.33178	.	1.146690	0.06159	N	0.675692	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-0.0856	5.403	0.16306	0.1029:0.0:0.6855:0.2116	.	.	.	.	X	317;317;317;317;317;306;185	.	ENSP00000269305:Q317X	Q	-	1	0	TP53	7517622	0.001000	0.12720	0.022000	0.16811	0.871000	0.50021	0.741000	0.26202	1.318000	0.45170	0.561000	0.74099	CAG	-	NULL		0.473	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7517622	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	nonsense	SNP	0.550	A	A	7576897	G	A	7576897	4	1	100	1	0	0	0	0	0	1	0	0	16378	1357	47	2	333	2	TP53	17	7576897	Nonsense_Mutation	SNP	G	TCGA-AB-2908-03A-01W-0745-08		7576897	73618313	17	1112											
TP53	7157	genome.wustl.edu	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr17:7578507G>C	ENST00000269305.4	-	5	612	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000455263.2_Missense_Mutation_p.C141W|TP53_ENST00000420246.2_Missense_Mutation_p.C141W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGCACAGGGCAGGTCTTGG	0.577		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	55	Substitution - Missense(16)|Substitution - Nonsense(11)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)|Insertion - In frame(1)	ovary(13)|lung(9)|breast(6)|oesophagus(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|kidney(1)|urinary_tract(1)	17											57	56	56					17																	7578507		2203	4300	6503	7519232	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.423C>G	17.37:g.7578507G>C	ENSP00000269305:p.Cys141Trp	185	1.07	2		17	71.67	43	7519232	152	24.02	49	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.C141W	ENST00000269305.4	37	c.423	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936103	0.34189	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99824	-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96;-6.96	5.48	2.07	0.26955	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.046412	0.85682	D	0.000000	D	0.99775	0.9907	M	0.90309	3.105	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.998;1.0;1.0;1.0;1.0	D	0.98853	1.0759	10	0.87932	D	0	-26.1094	8.3736	0.32430	0.2952:0.0:0.7048:0.0	.	102;141;141;48;141;141;141	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	W	141;141;141;141;141;141;130;48;9;48;9;141	ENSP00000410739:C141W;ENSP00000352610:C141W;ENSP00000269305:C141W;ENSP00000398846:C141W;ENSP00000391127:C141W;ENSP00000391478:C141W;ENSP00000425104:C9W;ENSP00000423862:C48W;ENSP00000424104:C141W	ENSP00000269305:C141W	C	-	3	2	TP53	7519232	1.000000	0.71417	0.987000	0.45799	0.022000	0.10575	1.115000	0.31209	0.236000	0.21180	0.655000	0.94253	TGC	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7519232	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	7578507	G	C	7578507	3	2	100	1	0	0	0	0	1	0	0	0	16378	1195	42	4	875	4	TP53	17	7578507	Missense_Mutation	SNP	G	TCGA-AB-2908-03A-01W-0745-08	1610	7578507	73616703	18	1113											
IKZF3	22806	genome.wustl.edu	37	17	37922154	37922154	+	Silent	SNP	G	G	A			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr17:37922154G>A	ENST00000346872.3	-	8	1480	c.1419C>T	c.(1417-1419)tgC>tgT	p.C473C	IKZF3_ENST00000377945.3_Silent_p.C339C|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000377944.3_Silent_p.C330C|IKZF3_ENST00000467757.1_Silent_p.C417C|IKZF3_ENST00000583368.1_Silent_p.C226C|IKZF3_ENST00000351680.3_Silent_p.C434C|IKZF3_ENST00000350532.3_Silent_p.C434C|IKZF3_ENST00000377958.2_Silent_p.C386C|IKZF3_ENST00000439167.2_Silent_p.C400C|IKZF3_ENST00000346243.3_Silent_p.C395C|IKZF3_ENST00000535189.1_Silent_p.C439C|IKZF3_ENST00000377952.2_Silent_p.C252C|IKZF3_ENST00000439016.2_Silent_p.C378C|IKZF3_ENST00000394189.2_Silent_p.C291C	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	473					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGAAGCCGTGGCAGCCCATGT	0.522																																						dbGAP											0			17											154	136	142					17																	37922154		2203	4300	6503	35175680	SO:0001819	synonymous_variant	0			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"Zinc fingers, C2H2-type", "IKAROS zinc fingers"	13178	protein-coding gene	gene with protein product		606221	"zinc finger protein, subfamily 1A, 3 (Aiolos)"	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1419C>T	17.37:g.37922154G>A		210	0.94	2		14	0	0	35175680	102	29.17	42	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.C473	ENST00000346872.3	37	c.1419	CCDS11346.1	17	.	.	.	.	.	.	.	.	.	.	G	8.893	0.954429	0.18431	.	.	ENSG00000161405	ENST00000439167;ENST00000439016	.	.	.	5.61	3.29	0.37713	.	.	.	.	.	T	0.63616	0.2526	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63028	-0.6728	4	.	.	.	-13.6274	13.0455	0.58924	0.1529:0.0:0.8471:0.0	.	.	.	.	V	388;427	.	.	A	-	2	0	IKZF3	35175680	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.470000	0.53100	1.384000	0.46424	0.591000	0.81541	GCC	-	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.522	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF3	protein_coding	OTTHUMT00000257004.2	G	NM_012481		35175680	-1	no_errors	NM_012481.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	37922154	G	A	37922154	2	1	100	1	0	0	0	0	0	0	0	1	7616	1195	42	2		2	IKZF3	17	37922154	Silent	SNP	G	TCGA-AB-2908-03A-01W-0745-08	30343647	37922154	43273056	19	1114											
CYP2F1	1572	genome.wustl.edu	37	19	41630694	41630694	+	Silent	SNP	C	C	T			TCGA-AB-2908-03A-01W-0745-08	TCGA-AB-2908-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a5785202-6842-4bf5-a4f6-c4e39a1b6521	77e017cf-a152-4721-9e70-2ee2806ae6cc	g.chr19:41630694C>T	ENST00000331105.2	+	8	1107	c.1035C>T	c.(1033-1035)gcC>gcT	p.A345A		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	345					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						ACCGCGCGGCCATGCCTTACA	0.677																																						dbGAP											0			19											27	25	25					19																	41630694		2202	4300	6502	46322534	SO:0001819	synonymous_variant	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"Cytochrome P450s"	2632	protein-coding gene	gene with protein product		124070	"cytochrome P450, subfamily IIF, polypeptide 1"	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1035C>T	19.37:g.41630694C>T		126	1.56	2					46322534	60	28.24	24	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.A345	ENST00000331105.2	37	c.1035	CCDS12572.1	19																																																																																			-	HMMPfam_p450,superfamily_Cytochrome P450		0.677	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	protein_coding	OTTHUMT00000394527.2	C			46322534	1	no_errors	NM_000774.3	genbank	human	reviewed	54_36p	silent	SNP	0.086	T	T	41630694	C	T	41630694	2	4	100	1	0	0	0	0	0	0	0	1	4171	581	21	2		2	CYP2F1	19	41630694	Silent	SNP	C	TCGA-AB-2908-03A-01W-0745-08		41630694	17498289	20	1115											
FLT3	2322	genome.wustl.edu	37	13	28608271	28608272	+	In_Frame_Ins	INS	-	-	ATTCTG			TCGA-AB-2909-03A-01W-0755-09	TCGA-AB-2909-11A-01W-0755-09	-	-	-	ATTCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39ad6508-a476-4a33-ae8d-6e25fa36369e	1019e10a-e958-4542-9266-f56f51834ac0	g.chr13:28608271_28608272insATTCTG	ENST00000241453.7	-	14	1865_1866	c.1784_1785insCAGAAT	c.(1783-1785)aga>agCAGAATa	p.595_595R>SRI	FLT3_ENST00000380982.4_In_Frame_Ins_p.595_595R>SRI|FLT3_ENST00000537084.1_In_Frame_Ins_p.595_595R>SRI	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	595	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R595_E596ins13(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTCATATTCTCTGAAATCAAC	0.381			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	1	Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	13																																								27506272	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1784_1785insCAGAAT	13.37:g.28608271_28608272insATTCTG	ENSP00000241453:p.Arg595delinsSerArgIle								27506271				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.R595in_frame_insSRI	ENST00000241453.7	37	c.1785_1784	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506272	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.996:0.999	ATTCTG	ATTCTG	28608272	-	ATTCTG	28608271	7	5	101	1	0	1	1	0	0	0	0	0	5942	1548	54	0	1240	0	FLT3	13	28608271	In_Frame_Ins	INS	-	TCGA-AB-2909-03A-01W-0755-09		28608271	86561607	1	1116											
ZBTB7B	51043	genome.wustl.edu	37	1	154987446	154987446	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr1:154987446G>A	ENST00000368426.3	+	3	447	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.E138K|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.E104K|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.E104K	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	104	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CGCCCTCCTTGAATTTGCCTA	0.647																																						dbGAP											0			1											25	29	27					1																	154987446		2202	4300	6502	153254070	SO:0001583	missense	0			AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"-", "Zinc fingers, C2H2-type", "BTB/POZ domain containing"	18668	protein-coding gene	gene with protein product	"zinc finger and BTB domain containing 15"	607646	"zinc finger protein 67 homolog (mouse)"	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.310G>A	1.37:g.154987446G>A	ENSP00000357411:p.Glu104Lys	24	0	0		133	50.19	134	153254070	172	36.16	98	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	HMMSmart_BTB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.E104K	ENST00000368426.3	37	c.310	CCDS1081.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525432	0.85600	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	3.66	3.66	0.41972	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.071587	0.53938	D	0.000048	T	0.76328	0.3972	M	0.74546	2.27	0.45554	D	0.998502	D;D;D	0.65815	0.995;0.995;0.995	P;P;P	0.62382	0.901;0.901;0.901	T	0.80264	-0.1455	10	0.72032	D	0.01	.	12.8864	0.58047	0.0:0.0:1.0:0.0	.	104;104;138	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	K	104;104;138;104	ENSP00000438647:E104K;ENSP00000357411:E104K;ENSP00000406286:E138K;ENSP00000292176:E104K	ENSP00000292176:E104K	E	+	1	0	ZBTB7B	153254070	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	9.560000	0.98139	1.867000	0.54127	0.455000	0.32223	GAA	-	HMMSmart_BTB,superfamily_BTB/POZ_fold,HMMPfam_BTB		0.647	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB7B	protein_coding	OTTHUMT00000091083.1	G	NM_015872		153254070	1	no_errors	NM_015872.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	154987446	G	A	154987446	3	1	102	1	0	0	0	0	1	0	0	0	17551	1291	45	2	312	2	ZBTB7B	1	154987446	Missense_Mutation	SNP	G	TCGA-AB-2910-03A-01W-0745-08		154987446	94263175	1	1117											
AFF4	27125	genome.wustl.edu	37	5	132228777	132228777	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr5:132228777T>G	ENST00000265343.5	-	12	2720	c.2341A>C	c.(2341-2343)Aaa>Caa	p.K781Q	AFF4_ENST00000378595.3_Missense_Mutation_p.K781Q	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	781					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTTTGGGTTTCTTGCTCTCA	0.418																																					Ovarian(126;889 1733 2942 10745 11605)	dbGAP											0			5											398	372	381					5																	132228777		2203	4300	6503	132256676	SO:0001583	missense	0			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"ALL1 fused gene from 5q31"	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2341A>C	5.37:g.132228777T>G	ENSP00000265343:p.Lys781Gln	75	1.32	1		13	51.85	14	132256676	89	33.81	47	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	HMMPfam_AF-4	p.K781Q	ENST00000265343.5	37	c.2341	CCDS4164.1	5	.	.	.	.	.	.	.	.	.	.	T	15.16	2.751167	0.49257	.	.	ENSG00000072364	ENST00000265343;ENST00000378595	T;T	0.69435	-0.4;-0.4	5.18	5.18	0.71444	.	0.272836	0.37483	N	0.002065	T	0.78547	0.4300	M	0.63843	1.955	0.52099	D	0.999941	P;D	0.62365	0.826;0.991	B;D	0.76071	0.341;0.987	T	0.78795	-0.2064	10	0.46703	T	0.11	-14.0242	13.7575	0.62946	0.0:0.0:0.0:1.0	.	781;781	Q9UHB7-2;Q9UHB7	.;AFF4_HUMAN	Q	781	ENSP00000265343:K781Q;ENSP00000367858:K781Q	ENSP00000265343:K781Q	K	-	1	0	AFF4	132256676	1.000000	0.71417	1.000000	0.80357	0.572000	0.35998	6.184000	0.72008	2.182000	0.69389	0.460000	0.39030	AAA	-	HMMPfam_AF-4		0.418	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF4	protein_coding	OTTHUMT00000133049.1	T	NM_014423		132256676	-1	no_errors	NM_014423.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	132228777	T	G	132228777	3	3	102	1	0	0	0	0	1	0	0	0	359	1792	62	5	1190	5	AFF4	5	132228777	Missense_Mutation	SNP	T	TCGA-AB-2910-03A-01W-0745-08		132228777	48686483	2	1118											
WEE2	494551	genome.wustl.edu	37	7	141429357	141429357	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr7:141429357A>T	ENST00000397541.2	+	11	1968	c.1562A>T	c.(1561-1563)cAg>cTg	p.Q521L	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	521					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CAGCAGGCCCAGTCACCCCAG	0.502																																						dbGAP											0			7											82	81	81					7																	141429357		1857	4111	5968	141075826	SO:0001583	missense	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1562A>T	7.37:g.141429357A>T	ENSP00000380675:p.Gln521Leu	73	3.95	3					141075826	116	36.22	67		Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.Q521L	ENST00000397541.2	37	c.1562	CCDS43660.1	7	.	.	.	.	.	.	.	.	.	.	A	11.94	1.790014	0.31685	.	.	ENSG00000214102	ENST00000397541	T	0.57273	0.41	5.77	-2.61	0.06171	Protein kinase-like domain (1);	0.910282	0.09272	U	0.825022	T	0.40448	0.1117	L	0.56769	1.78	0.09310	N	1	B	0.20887	0.049	B	0.12156	0.007	T	0.28073	-1.0055	10	0.25106	T	0.35	.	4.2872	0.10860	0.5292:0.0:0.2515:0.2193	.	521	P0C1S8	WEE2_HUMAN	L	521	ENSP00000380675:Q521L	ENSP00000380675:Q521L	Q	+	2	0	WEE2	141075826	0.000000	0.05858	0.004000	0.12327	0.946000	0.59487	0.013000	0.13310	-0.610000	0.05716	0.533000	0.62120	CAG	-	NULL		0.502	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2	protein_coding	OTTHUMT00000349091.1	A	NM_001105558		141075826	1	no_errors	NM_001105558.1	genbank	human	validated	54_36p	missense	SNP	0.043	T	T	141429357	A	T	141429357	3	4	102	1	0	0	0	0	1	0	0	0	17342	188	7	5	1604	5	WEE2	7	141429357	Missense_Mutation	SNP	A	TCGA-AB-2910-03A-01W-0745-08		141429357	17709306	3	1119											
KCNU1	157855	genome.wustl.edu	37	8	36666296	36666296	+	Silent	SNP	G	G	A			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr8:36666296G>A	ENST00000399881.3	+	7	754	c.717G>A	c.(715-717)gcG>gcA	p.A239A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	239					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCACAGCTGCGGGATTCATTC	0.448																																						dbGAP											0			8											124	117	119					8																	36666296		1888	4127	6015	36785454	SO:0001819	synonymous_variant	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.717G>A	8.37:g.36666296G>A		64	2.99	2					36785454	143	34.1	74		Silent	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324	p.A239	ENST00000399881.3	37	c.717	CCDS55220.1	8																																																																																			-	HMMPfam_Ion_trans,superfamily_SSF81324		0.448	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36785454	1	no_errors	NM_001031836.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	36666296	G	A	36666296	2	1	102	1	0	0	0	0	0	0	0	1	8093	1103	39	1		1	KCNU1	8	36666296	Silent	SNP	G	TCGA-AB-2910-03A-01W-0745-08		36666296	109697726	4	1120											
KCNE3	10008	genome.wustl.edu	37	11	74168526	74168526	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr11:74168526T>C	ENST00000310128.4	-	3	502	c.83A>G	c.(82-84)aAt>aGt	p.N28S	KCNE3_ENST00000525550.1_Missense_Mutation_p.N28S|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	28					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					GCAGAGCAAATTGCTGTGAAG	0.562																																						dbGAP											0			11											80	74	76					11																	74168526		2200	4293	6493	73846174	SO:0001583	missense	0			AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"Potassium channels"	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.83A>G	11.37:g.74168526T>C	ENSP00000310557:p.Asn28Ser	38	2.56	1		20	44.44	16	73846174	77	30.09	34		Missense_Mutation	SNP	NULL	p.N28S	ENST00000310128.4	37	c.83	CCDS8232.1	11	.	.	.	.	.	.	.	.	.	.	T	6.314	0.426031	0.11987	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569;ENST00000531854;ENST00000529425	D;D;D;T;T	0.85556	-2.0;-2.0;-2.0;-1.03;-0.62	5.01	3.89	0.44902	.	0.597000	0.16923	N	0.194007	T	0.60843	0.2300	N	0.03608	-0.345	0.22366	N	0.999163	B	0.02656	0.0	B	0.04013	0.001	T	0.51803	-0.8659	10	0.06365	T	0.9	-6.1159	5.6393	0.17554	0.0:0.1812:0.0:0.8188	.	28	Q9Y6H6	KCNE3_HUMAN	S	28	ENSP00000310557:N28S;ENSP00000433633:N28S;ENSP00000431739:N28S;ENSP00000433697:N28S;ENSP00000434890:N28S	ENSP00000310557:N28S	N	-	2	0	KCNE3	73846174	0.386000	0.25180	1.000000	0.80357	0.129000	0.20672	0.525000	0.22956	2.220000	0.72140	0.459000	0.35465	AAT	-	NULL		0.562	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNE3	protein_coding	OTTHUMT00000385531.1	T	NM_005472		73846174	-1	no_errors	NM_005472.4	genbank	human	reviewed	54_36p	missense	SNP	0.512	C	C	74168526	T	C	74168526	3	2	102	1	0	0	0	0	1	0	0	0	8024	1493	52	3	232	3	KCNE3	11	74168526	Missense_Mutation	SNP	T	TCGA-AB-2910-03A-01W-0745-08		74168526	60837990	5	1121											
ATF7IP	55729	genome.wustl.edu	37	12	14619468	14619471	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	ACAA	ACAA	ACAA	-	ACAA	ACAA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr12:14619468_14619471delACAA	ENST00000540793.1	+	9	2961_2964	c.2806_2809delACAA	c.(2806-2811)acaaacfs	p.TN936fs	ATF7IP_ENST00000543189.1_Frame_Shift_Del_p.TN935fs|ATF7IP_ENST00000261168.4_Frame_Shift_Del_p.TN936fs|ATF7IP_ENST00000536444.1_Frame_Shift_Del_p.TN935fs|ATF7IP_ENST00000544627.1_Frame_Shift_Del_p.TN944fs			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	936					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAAAACCAGACAAACAAAACAAT	0.299																																						dbGAP											0			12																																								14510738	SO:0001589	frameshift_variant	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2806_2809delACAA	12.37:g.14619472_14619475delACAA	ENSP00000444589:p.Thr936fs								14510735				F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Frame_Shift_Del	DEL	HMMPfam_fn3,superfamily_Fibronectin type III	p.N937fs	ENST00000540793.1	37	c.2806_2809	CCDS8663.1	12																																																																																			-	NULL		0.299	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	protein_coding	OTTHUMT00000401400.1	ACAA	NM_018179		14510738	1	no_errors	NM_018179.3	genbank	human	validated	54_36p	frame_shift_del	DEL	0.999:0.994:0.986:0.999	-	-	14619471	ACAA	-	14619468	7	5	102	1	0	1	0	1	0	0	0	0	1087	275	10	0	2840	0	ATF7IP	12	14619468	Frame_Shift_Del	DEL	ACAA	TCGA-AB-2910-03A-01W-0745-08		14619468	119232427	6	1122											
CKAP4	10970	genome.wustl.edu	37	12	106633326	106633326	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr12:106633326G>A	ENST00000378026.4	-	2	1421	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	CKAP4_ENST00000552828.1_5'Flank	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	429						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TCGGTCTGGCGCGCAGAAGCC	0.662																																						dbGAP											0			12											46	49	48					12																	106633326		2203	4300	6503	105157456	SO:0001583	missense	0			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.1285C>T	12.37:g.106633326G>A	ENSP00000367265:p.Arg429Cys	14	0	0		25	28.57	10	105157456	65	15.58	12	Q504S5|Q53ES6	Missense_Mutation	SNP	NULL	p.R429C	ENST00000378026.4	37	c.1285	CCDS9103.1	12	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153312	0.38021	.	.	ENSG00000136026	ENST00000378026	T	0.78816	-1.21	5.95	4.01	0.46588	.	0.961040	0.08746	N	0.899837	T	0.80407	0.4617	M	0.65975	2.015	0.09310	N	1	D	0.69078	0.997	P	0.46975	0.533	T	0.69705	-0.5073	10	0.66056	D	0.02	-8.5826	12.8386	0.57788	0.0:0.0:0.7055:0.2945	.	429	Q07065	CKAP4_HUMAN	C	429	ENSP00000367265:R429C	ENSP00000367265:R429C	R	-	1	0	CKAP4	105157456	0.001000	0.12720	0.005000	0.12908	0.490000	0.33462	1.188000	0.32102	1.500000	0.48636	0.655000	0.94253	CGC	-	NULL		0.662	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	protein_coding	OTTHUMT00000407196.1	G			105157456	-1	no_errors	NM_006825.3	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	106633326	G	A	106633326	3	1	102	1	0	0	0	0	1	0	0	0	3444	1087	38	1	527	1	CKAP4	12	106633326	Missense_Mutation	SNP	G	TCGA-AB-2910-03A-01W-0745-08	92013858	106633326	27218569	7	1123											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	G	rs121913486|rs121913488		TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr13:28592642C>G	ENST00000241453.7	-	20	2584	c.2503G>C	c.(2503-2505)Gat>Cat	p.D835H	FLT3_ENST00000380982.4_Missense_Mutation_p.D835H|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>C	13.37:g.28592642C>G	ENSP00000241453:p.Asp835His	44	0	0		401	43.78	313	27490642	100	30.46	46	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835H	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006191	0.93287	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83837	-1.77;-1.77	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.89378	0.6698	L	0.47016	1.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89468	0.3741	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	H	835	ENSP00000241453:D835H;ENSP00000370369:D835H	ENSP00000241453:D835H	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	28592642	C	G	28592642	3	3	102	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2910-03A-01W-0745-08		28592642	86577236	8	1124											
MBTPS1	8720	genome.wustl.edu	37	16	84101360	84101360	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr16:84101360C>T	ENST00000343411.3	-	16	2635	c.2140G>A	c.(2140-2142)Gtg>Atg	p.V714M	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	714					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCGTTGTCCACGTCCCTCCGG	0.473																																						dbGAP											0			16											119	99	106					16																	84101360		2200	4300	6500	82658861	SO:0001583	missense	0			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"membrane-bound transcription factor protease, site 1"			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.2140G>A	16.37:g.84101360C>T	ENSP00000344223:p.Val714Met	29	3.33	1		39	40	26	82658861	84	38.41	53	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	HMMPfam_Peptidase_S8,PatternScan_SUBTILASE_ASP,PatternScan_SUBTILASE_HIS,PatternScan_SUBTILASE_SER,superfamily_Pept_S8_S53	p.V714M	ENST00000343411.3	37	c.2140	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467255	0.63625	.	.	ENSG00000140943	ENST00000343411;ENST00000347334	T	0.51325	0.71	5.91	3.94	0.45596	.	0.209160	0.49916	D	0.000132	T	0.65101	0.2659	M	0.79475	2.455	0.45161	D	0.99817	D	0.65815	0.995	P	0.61592	0.891	T	0.70880	-0.4752	10	0.72032	D	0.01	-14.9766	13.0968	0.59197	0.0:0.8689:0.0:0.1311	.	714	Q14703	MBTP1_HUMAN	M	714;159	ENSP00000344223:V714M	ENSP00000344223:V714M	V	-	1	0	MBTPS1	82658861	0.999000	0.42202	0.947000	0.38551	0.465000	0.32709	3.732000	0.55021	1.500000	0.48636	0.655000	0.94253	GTG	-	NULL		0.473	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	protein_coding	OTTHUMT00000269080.2	C	NM_003791		82658861	-1	no_errors	NM_003791.2	genbank	human	reviewed	54_36p	missense	SNP	0.992	T	T	84101360	C	T	84101360	3	4	102	1	0	0	0	0	1	0	0	0	9361	536	19	1	1050	1	MBTPS1	16	84101360	Missense_Mutation	SNP	C	TCGA-AB-2910-03A-01W-0745-08		84101360	6253393	9	1125											
CIC	23152	genome.wustl.edu	37	19	42791518	42791518	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr19:42791518G>A	ENST00000575354.2	+	4	539	c.499G>A	c.(499-501)Gga>Aga	p.G167R	CIC_ENST00000572681.2_Missense_Mutation_p.G1076R|CIC_ENST00000160740.3_Missense_Mutation_p.G167R	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCTACCGCCCGGAAAACGTCG	0.607			"Mis, F, S"		oligodendroglioma																																	dbGAP		Rec	yes		19	19q13.2	23152	capicua homolog		O	0			19											115	112	113					19																	42791518		2203	4300	6503	47483358	SO:0001583	missense	0			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"capicua (Drosophila) homolog", "capicua homolog (Drosophila)"			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.499G>A	19.37:g.42791518G>A	ENSP00000458663:p.Gly167Arg	30	3.23	1		47	58.26	67	47483358	91	28.91	37	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box	p.G167R	ENST00000575354.2	37	c.499	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918253	0.52546	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.36	3.33	0.38152	.	.	.	.	.	T	0.40886	0.1135	N	0.19112	0.55	0.38927	D	0.957858	B	0.21520	0.057	B	0.13407	0.009	T	0.40905	-0.9538	8	0.87932	D	0	-7.3609	10.0287	0.42087	0.099:0.0:0.901:0.0	.	167	Q96RK0	CIC_HUMAN	R	167	.	ENSP00000160740:G167R	G	+	1	0	CIC	47483358	1.000000	0.71417	0.999000	0.59377	0.892000	0.51952	6.470000	0.73558	1.080000	0.41073	0.555000	0.69702	GGA	-	NULL		0.607	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	protein_coding	OTTHUMT00000438532.2	G			47483358	1	no_errors	NM_015125.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	42791518	G	A	42791518	3	1	102	1	0	0	0	0	1	0	0	0	3424	1117	39	1	513	1	CIC	19	42791518	Missense_Mutation	SNP	G	TCGA-AB-2910-03A-01W-0745-08		42791518	16337465	10	1126											
TTC3	7267	genome.wustl.edu	37	21	38538290	38538290	+	Silent	SNP	C	C	T	rs138345072	byFrequency	TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chr21:38538290C>T	ENST00000399017.2	+	33	6521	c.3774C>T	c.(3772-3774)tcC>tcT	p.S1258S	TTC3_ENST00000355666.1_Silent_p.S1258S|TTC3_ENST00000354749.2_Silent_p.S1258S|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1258					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AACCAGTATCCGACAATTCTT	0.448													C|||	4	0.000798722	0.003	0	5008	,	,		18248	0		0	False		,,,				2504	0				Ovarian(38;194 1649 35661)	dbGAP											0			21						C	,	13,4393	16.8+/-37.8	0,13,2190	63	70	68		3774,3774	-7.7	0	21	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TTC3	NM_001001894.1,NM_003316.3	,	0,13,6490	TT,TC,CC		0.0,0.2951,0.1	,	1258/2026,1258/2026	38538290	13,12993	2203	4300	6503	37460160	SO:0001819	synonymous_variant	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"RING-type (C3HC4) zinc fingers", "Tetratricopeptide (TTC) repeat domain containing"	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3774C>T	21.37:g.38538290C>T		37	5.13	2		29	61.84	47	37460160	89	37.24	54	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	HMMPfam_TPR_1,HMMSmart_RING,HMMPfam_zf-C3HC4,HMMSmart_TPR,superfamily_Spectrin,superfamily_SSF48452,superfamily_SSF57850	p.S1258	ENST00000399017.2	37	c.3774	CCDS13651.1	21																																																																																			-	superfamily_Spectrin,superfamily_SSF48452		0.448	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	protein_coding	OTTHUMT00000194776.1	C			37460160	1	no_errors	NM_001001894.1	genbank	human	validated	54_36p	silent	SNP	0.000	T	T	38538290	C	T	38538290	2	4	102	1	0	0	0	0	0	0	0	1	16694	639	23	1		1	TTC3	21	38538290	Silent	SNP	C	TCGA-AB-2910-03A-01W-0745-08		38538290	9591605	11	1127											
ATP2B3	492	genome.wustl.edu	37	X	152814259	152814259	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2910-03A-01W-0745-08	TCGA-AB-2910-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14873dc1-e10c-4d0f-b047-6ff5eb91f6fa	8dd5ac8c-f1e2-418b-b7a8-6c6ea3eb1f31	g.chrX:152814259G>T	ENST00000349466.2	+	9	1611	c.1285G>T	c.(1285-1287)Gtc>Ttc	p.V429F	ATP2B3_ENST00000370181.2_Missense_Mutation_p.V415F|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V415F|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V429F|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V429F|ATP2B3_ENST00000370186.1_Missense_Mutation_p.V415F			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	429					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCGTGGCTGTCCCAGAGGG	0.498																																						dbGAP											0			X											166	107	127					X																	152814259		2203	4300	6503	152467453	SO:0001583	missense	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"ATPases / P-type"	816	protein-coding gene	gene with protein product	"plasma membrane calcium-transporting ATPase 3", "cilia and flagella associated protein 39"	300014	"spinocerebellar ataxia, X-linked 1", "cerebellar ataxia 2 (X-linked)"	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1285G>T	X.37:g.152814259G>T	ENSP00000343886:p.Val429Phe	58	4.92	3					152467453	175	37.1	105	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M	p.V429F	ENST00000349466.2	37	c.1285	CCDS35440.1	X	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626901	0.87560	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	4.73	4.73	0.59995	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.97021	0.9027	M	0.93978	3.48	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.98225	1.0480	10	0.87932	D	0	-47.8674	15.9103	0.79467	0.0:0.0:1.0:0.0	.	429;429	Q16720;Q16720-2	AT2B3_HUMAN;.	F	415;429;415;429;429;415	ENSP00000359205:V415F;ENSP00000343886:V429F;ENSP00000377425:V415F;ENSP00000352062:V429F;ENSP00000263519:V429F;ENSP00000359200:V415F	ENSP00000263519:V429F	V	+	1	0	ATP2B3	152467453	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.768000	0.98965	2.091000	0.63221	0.517000	0.50305	GTC	-	HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transmembrane domain M		0.498	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	protein_coding	OTTHUMT00000060957.1	G	NM_021949		152467453	1	no_errors	NM_001001344.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	152814259	G	T	152814259	3	4	102	1	0	0	0	0	1	0	0	0	1141	1377	48	4	1315	4	ATP2B3	23	152814259	Missense_Mutation	SNP	G	TCGA-AB-2910-03A-01W-0745-08		152814259	2456301	12	1128											
MYH15	22989	genome.wustl.edu	37	3	108216937	108216937	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2911-03A-01W-0732-08	TCGA-AB-2911-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e7c29989-01f5-4ff3-beb2-03439d5da71b	e5629749-f529-4a81-9855-67a0f5fe8623	g.chr3:108216937C>T	ENST00000273353.3	-	7	696	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	214	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTATGGTGGCAAAATACTGG	0.408																																						dbGAP											0			3											147	147	147					3																	108216937		1929	4152	6081	109699627	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"Myosins / Myosin superfamily : Class II"	31073	protein-coding gene	gene with protein product		609929	"myosin, heavy polypeptide 15"			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.640G>A	3.37:g.108216937C>T	ENSP00000273353:p.Ala214Thr	69	8	6		3	0	0	109699627	156	43.12	119		Missense_Mutation	SNP	HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A214T	ENST00000273353.3	37	c.640	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665195	0.88251	.	.	ENSG00000144821	ENST00000273353	D	0.90004	-2.6	5.85	3.05	0.35203	Myosin head, motor domain (3);	.	.	.	.	D	0.94029	0.8087	M	0.88377	2.95	0.52501	D	0.999959	D	0.69078	0.997	D	0.78314	0.991	D	0.92738	0.6205	9	0.87932	D	0	.	8.2997	0.32006	0.1284:0.7368:0.0:0.1348	.	214	Q9Y2K3	MYH15_HUMAN	T	214	ENSP00000273353:A214T	ENSP00000273353:A214T	A	-	1	0	MYH15	109699627	1.000000	0.71417	0.955000	0.39395	0.956000	0.61745	3.776000	0.55356	0.459000	0.27016	0.655000	0.94253	GCC	-	HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.408	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	protein_coding	OTTHUMT00000353935.1	C	XM_036988		109699627	-1	no_errors	NM_014981.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	108216937	C	T	108216937	3	4	103	1	0	0	0	0	1	0	0	0	10034	710	25	2	5344	2	MYH15	3	108216937	Missense_Mutation	SNP	C	TCGA-AB-2911-03A-01W-0732-08		108216937	89805493	1	1129											
ADRBK1	156	genome.wustl.edu	37	11	67049291	67049291	+	Splice_Site	SNP	A	A	G			TCGA-AB-2911-03A-01W-0732-08	TCGA-AB-2911-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	e7c29989-01f5-4ff3-beb2-03439d5da71b	e5629749-f529-4a81-9855-67a0f5fe8623	g.chr11:67049291A>G	ENST00000308595.5	+	11	1116		c.e11-1		ADRBK1_ENST00000526285.1_Splice_Site	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1						activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGCCTCCCTCAGGTGGGGACC	0.662																																						dbGAP											0			11											77	74	75					11																	67049291		2200	4295	6495	66805867	SO:0001630	splice_region_variant	0			X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"Pleckstrin homology (PH) domain containing"	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.827-1A>G	11.37:g.67049291A>G		8	0	0		0	90	144	66805867	33	17.5	7	B0ZBE1|Q13837|Q6GTT3	Splice_Site	SNP	-	e11-2	ENST00000308595.5	37	c.827-2	CCDS8156.1	11	.	.	.	.	.	.	.	.	.	.	A	19.14	3.769887	0.69992	.	.	ENSG00000173020	ENST00000308595;ENST00000526285	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0089	0.71533	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADRBK1	66805867	1.000000	0.71417	0.996000	0.52242	0.841000	0.47740	8.416000	0.90244	2.016000	0.59253	0.482000	0.46254	.	-	-		0.662	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK1	protein_coding	OTTHUMT00000393153.1	A	NM_001619	Intron	66805867	1	no_errors	NM_001619.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G	G	67049291	A	G	67049291	5	3	103	1	0	0	0	0	0	0	1	0	343	202	7	3	867	3	ADRBK1	11	67049291	Splice_Site	SNP	A	TCGA-AB-2911-03A-01W-0732-08		67049291	67957225	2	1130											
BCAN	63827	genome.wustl.edu	37	1	156617332	156617332	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr1:156617332C>T	ENST00000329117.5	+	4	835	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	RP11-284F21.7_ENST00000448869.1_RNA|RP11-284F21.10_ENST00000605886.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.R167C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	167	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGCTCTGCCCGCTATGCTTT	0.657																																						dbGAP											0			1											49	51	50					1																	156617332		2203	4300	6503	154883956	SO:0001583	missense	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	23059	protein-coding gene	gene with protein product	"chondroitin sulfate proteoglycan 7", "brevican proteoglycan"	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.499C>T	1.37:g.156617332C>T	ENSP00000331210:p.Arg167Cys	121	1.63	2					154883956	146	43.63	113	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin	p.R167C	ENST00000329117.5	37	c.499	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.151304	0.78001	.	.	ENSG00000132692	ENST00000329117;ENST00000457777;ENST00000424639;ENST00000361588	T;T;T;T	0.15372	2.43;2.43;2.43;2.43	4.26	4.26	0.50523	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.000000	0.64402	D	0.000013	T	0.36963	0.0986	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.38845	-0.9642	10	0.87932	D	0	-17.5056	10.7581	0.46249	0.1901:0.8099:0.0:0.0	.	167;167	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	C	167;167;65;167	ENSP00000331210:R167C;ENSP00000389898:R167C;ENSP00000401709:R65C;ENSP00000354925:R167C	ENSP00000331210:R167C	R	+	1	0	BCAN	154883956	0.994000	0.37717	1.000000	0.80357	0.904000	0.53231	3.136000	0.50554	2.187000	0.69744	0.442000	0.29010	CGC	-	HMMPfam_Xlink,HMMSmart_SM00445,superfamily_C-type lectin-like		0.657	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	protein_coding	OTTHUMT00000081844.2	C	NM_021948		154883956	1	no_errors	NM_021948.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	156617332	C	T	156617332	3	4	104	1	0	0	0	0	1	0	0	0	1345	652	23	1	509	1	BCAN	1	156617332	Missense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08		156617332	92633289	1	1131											
ADSS	159	genome.wustl.edu	37	1	244580929	244580929	+	Splice_Site	SNP	C	C	T			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr1:244580929C>T	ENST00000366535.3	-	10	1387		c.e10+1		ADSS_ENST00000462358.1_5'Flank	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			AGAATACTCACGCAGTAAATC	0.363																																						dbGAP											0			1											86	85	85					1																	244580929		2203	4300	6503	242647552	SO:0001630	splice_region_variant	0			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.1070+1G>A	1.37:g.244580929C>T		92	0	0		8	27.27	3	242647552	87	32.03	41		Splice_Site	SNP	-	e10+1	ENST00000366535.3	37	c.1070+1	CCDS1624.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730303	0.89390	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7167	0.96124	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADSS	242647552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.667000	0.90743	0.655000	0.94253	.	-	-		0.363	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSS	protein_coding	OTTHUMT00000096697.1	C	NM_001126	Intron	242647552	-1	no_errors	NM_001126.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	244580929	C	T	244580929	5	4	104	1	0	0	0	0	0	0	1	0	347	550	19	1	315	1	ADSS	1	244580929	Splice_Site	SNP	C	TCGA-AB-2912-03A-01W-0732-08	87963597	244580929	4669692	2	1132											
DNMT3A	1788	genome.wustl.edu	37	2	25463308	25463308	+	Missense_Mutation	SNP	G	G	A	rs200018028		TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr2:25463308G>A	ENST00000264709.3	-	19	2522	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R540W|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R729W|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R506W|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	729	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R729W(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAAGAGCCGGCCAGTGCCC	0.612			"Mis, F, N, S"		AML								G|||	1	0.000199681	0	0	5008	,	,		18546	0.001		0	False		,,,				2504	0					dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											54	55	55					2																	25463308		2203	4300	6503	25316812	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2185C>T	2.37:g.25463308G>A	ENSP00000264709:p.Arg729Trp	19	0	0		15	40	10	25316812	27	49.06	26	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R729W	ENST00000264709.3	37	c.2185	CCDS33157.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	21.6	4.171186	0.78452	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.89462	0.6722	L	0.58354	1.805	0.80722	D	1	D;D	0.76494	0.999;0.997	P;D	0.65684	0.854;0.937	D	0.89215	0.3567	10	0.51188	T	0.08	-10.1334	12.7451	0.57278	0.0:0.0:0.8357:0.1643	.	729;540	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	W	540;729;729;506	ENSP00000370122:R540W;ENSP00000324375:R729W;ENSP00000264709:R729W;ENSP00000384237:R506W	ENSP00000264709:R729W	R	-	1	2	DNMT3A	25316812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.075000	0.57584	2.540000	0.85666	0.561000	0.74099	CGG	-	HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.612	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25316812	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25463308	G	A	25463308	3	1	104	1	0	0	0	0	1	0	0	0	4676	1115	39	1	573	1	DNMT3A	2	25463308	Missense_Mutation	SNP	G	TCGA-AB-2912-03A-01W-0732-08		25463308	217736065	3	1133											
ZNF638	27332	genome.wustl.edu	37	2	71654223	71654223	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr2:71654223G>A	ENST00000409544.1	+	24	5854	c.5224G>A	c.(5224-5226)Gac>Aac	p.D1742N	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.D1742N|ZNF638_ENST00000409407.1_Missense_Mutation_p.D682N	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1742					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AATACAAGATGACAGCAGTGA	0.388																																						dbGAP											0			2											113	117	116					2																	71654223		2203	4300	6503	71507731	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"RNA binding motif (RRM) containing"	17894	protein-coding gene	gene with protein product		614349	"zinc finger, matrin-like"	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5224G>A	2.37:g.71654223G>A	ENSP00000386433:p.Asp1742Asn	192	0.52	1		41	50	41	71507731	136	31.31	62	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00451,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_RNA-binding domain RBD	p.D1742N	ENST00000409544.1	37	c.5224	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900123	0.92035	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.50001	0.76;0.76;1.16	5.71	5.71	0.89125	.	0.114707	0.38959	N	0.001514	T	0.47911	0.1471	N	0.19112	0.55	0.80722	D	1	D;D	0.59357	0.985;0.974	P;P	0.54270	0.747;0.563	T	0.41088	-0.9528	10	0.38643	T	0.18	-2.2373	17.3445	0.87306	0.0:0.0:1.0:0.0	.	1742;1742	Q14966-3;Q14966	.;ZN638_HUMAN	N	1742;1742;682	ENSP00000264447:D1742N;ENSP00000386433:D1742N;ENSP00000386813:D682N	ENSP00000264447:D1742N	D	+	1	0	ZNF638	71507731	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.176000	0.77643	2.686000	0.91538	0.655000	0.94253	GAC	-	NULL		0.388	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	G	NM_014497		71507731	1	no_errors	NM_001014972.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	71654223	G	A	71654223	3	1	104	1	0	0	0	0	1	0	0	0	18052	1290	45	2	5314	2	ZNF638	2	71654223	Missense_Mutation	SNP	G	TCGA-AB-2912-03A-01W-0732-08	46190915	71654223	171545150	4	1134											
SCN3A	6328	genome.wustl.edu	37	2	166003485	166003485	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr2:166003485C>G	ENST00000360093.3	-	12	1926	c.1435G>C	c.(1435-1437)Gga>Cga	p.G479R	SCN3A_ENST00000283254.7_Missense_Mutation_p.G479R|RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000409101.3_Missense_Mutation_p.G479R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	479					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AACAGCTCTCCTAACCCACCT	0.443																																						dbGAP											0			2											114	116	115					2																	166003485		2203	4300	6503	165711731	SO:0001583	missense	0			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10590	protein-coding gene	gene with protein product		182391	"sodium channel, voltage-gated, type III, alpha polypeptide"			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1435G>C	2.37:g.166003485C>G	ENSP00000353206:p.Gly479Arg	88	4.35	4					165711731	97	40.49	66	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,superfamily_SSF81324	p.G479R	ENST00000360093.3	37	c.1435		2	.	.	.	.	.	.	.	.	.	.	C	20.0	3.931190	0.73327	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96073	-3.9;-3.9;-3.87;-3.75	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000007	D	0.96558	0.8877	L	0.36672	1.1	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.996;0.996;0.998;0.998;0.998	D	0.96983	0.9716	10	0.72032	D	0.01	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	479;479;479;479;479	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	479	ENSP00000353206:G479R;ENSP00000283254:G479R;ENSP00000386726:G479R;ENSP00000403348:G479R	ENSP00000283254:G479R	G	-	1	0	SCN3A	165711731	0.931000	0.31567	0.976000	0.42696	0.870000	0.49936	1.830000	0.39131	2.780000	0.95670	0.655000	0.94253	GGA	-	NULL		0.443	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		C	NM_006922		165711731	-1	no_errors	NM_006922.1	genbank	human	reviewed	54_36p	missense	SNP	0.985	G	G	166003485	C	G	166003485	3	3	104	1	0	0	0	0	1	0	0	0	13918	690	24	4	4635	4	SCN3A	2	166003485	Missense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08	94349262	166003485	77195888	5	1135											
POC1A	25886	genome.wustl.edu	37	3	52172304	52172304	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr3:52172304C>T	ENST00000296484.2	-	7	733	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	POC1A_ENST00000474012.1_Missense_Mutation_p.V194M|POC1A_ENST00000394970.2_Missense_Mutation_p.V232M	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	232					cell projection organization (GO:0030030)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGCCCGTTCACTGCTGCACTG	0.597																																						dbGAP											0			3											70	58	62					3																	52172304		2203	4300	6503	52147344	SO:0001583	missense	0			AL117629	CCDS2846.1, CCDS54591.1, CCDS54592.1	3p21.2	2014-05-02	2013-08-21	2010-03-26	ENSG00000164087	ENSG00000164087		"WD repeat domain containing"	24488	protein-coding gene	gene with protein product		614783	"WD repeat domain 51A", "POC1 centriolar protein homolog A (Chlamydomonas)"	WDR51A		19109428, 22840364	Standard	NM_015426		Approved	DKFZP434C245	uc003dcu.3	Q8NBT0	OTTHUMG00000157817	ENST00000296484.2:c.694G>A	3.37:g.52172304C>T	ENSP00000296484:p.Val232Met	121	1.63	2		13	48	12	52147344	131	45.19	108	A4FUW4|E9PFC6|Q0VDF8|Q2TAK6|Q96IK6|Q9UFJ8	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.V232M	ENST00000296484.2	37	c.694	CCDS2846.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150132	0.78001	.	.	ENSG00000164087	ENST00000296484;ENST00000394970;ENST00000474012	T;T;T	0.73897	-0.79;-0.79;-0.79	4.84	4.84	0.62591	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.065827	0.64402	D	0.000012	D	0.88897	0.6562	M	0.91249	3.19	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79108	0.992;0.985	D	0.91406	0.5147	10	0.87932	D	0	.	16.8786	0.86058	0.0:1.0:0.0:0.0	.	232;232	Q8NBT0-2;Q8NBT0	.;POC1A_HUMAN	M	232;232;194	ENSP00000296484:V232M;ENSP00000378421:V232M;ENSP00000418968:V194M	ENSP00000296484:V232M	V	-	1	0	POC1A	52147344	1.000000	0.71417	0.746000	0.31095	0.626000	0.37791	5.525000	0.67110	2.517000	0.84864	0.655000	0.94253	GTG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.597	POC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR51A	protein_coding	OTTHUMT00000349685.1	C	NM_015426		52147344	-1	no_errors	NM_015426.3	genbank	human	provisional	54_36p	missense	SNP	0.999	T	T	52172304	C	T	52172304	3	4	104	1	0	0	0	0	1	0	0	0	12175	565	20	2	549	2	POC1A	3	52172304	Missense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08		52172304	145850126	6	1136											
ILDR1	286676	genome.wustl.edu	37	3	121725901	121725901	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr3:121725901C>T	ENST00000344209.5	-	2	292	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	ILDR1_ENST00000273691.3_Missense_Mutation_p.V56M|ILDR1_ENST00000462014.1_Missense_Mutation_p.V68M|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.V56M	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	56	Ig-like V-type.				positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTCACCACCACGTCCTGGAGC	0.547																																						dbGAP											0			3											160	123	135					3																	121725901		2203	4300	6503	123208591	SO:0001583	missense	0			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"deafness, autosomal recessive 42"	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.166G>A	3.37:g.121725901C>T	ENSP00000345667:p.Val56Met	122	1.61	2		0	100	1	123208591	153	39.04	98	Q6ZP61|Q7Z578	Missense_Mutation	SNP	HMMSmart_IG,HMMPfam_LSR,superfamily_SSF48726	p.V56M	ENST00000344209.5	37	c.166	CCDS56271.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248618	0.80024	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000383663;ENST00000393631;ENST00000462014	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.54	5.54	0.83059	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72244	0.3436	M	0.70595	2.14	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.987;0.994;0.997	T	0.73811	-0.3865	10	0.59425	D	0.04	-18.9151	16.9785	0.86321	0.0:1.0:0.0:0.0	.	56;56;56;68	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	M	56;56;56;56;68	ENSP00000273691:V56M;ENSP00000345667:V56M;ENSP00000377251:V56M;ENSP00000419414:V68M	ENSP00000273691:V56M	V	-	1	0	ILDR1	123208591	1.000000	0.71417	0.973000	0.42090	0.984000	0.73092	4.675000	0.61619	2.598000	0.87819	0.650000	0.86243	GTG	-	HMMSmart_IG,superfamily_SSF48726		0.547	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	protein_coding	OTTHUMT00000355666.1	C	NM_175924		123208591	-1	no_errors	NM_175924.2	genbank	human	provisional	54_36p	missense	SNP	0.997	T	T	121725901	C	T	121725901	3	4	104	1	0	0	0	0	1	0	0	0	7709	536	19	1	1366	1	ILDR1	3	121725901	Missense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08	69553597	121725901	76296529	7	1137											
KDR	3791	genome.wustl.edu	37	4	55964954	55964954	+	Silent	SNP	C	C	T			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr4:55964954C>T	ENST00000263923.4	-	16	2578	c.2283G>A	c.(2281-2283)acG>acA	p.T761T		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	761					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|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 endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTCCAAGTTCGTCTTTTCCT	0.393			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											98	97	97					4																	55964954		2203	4300	6503	55659711	SO:0001819	synonymous_variant	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2283G>A	4.37:g.55964954C>T		84	0	0					55659711	95	35.37	52	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.T761	ENST00000263923.4	37	c.2283	CCDS3497.1	4																																																																																			-	NULL		0.393	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	protein_coding	OTTHUMT00000250645.1	C			55659711	-1	no_errors	NM_002253.2	genbank	human	validated	54_36p	silent	SNP	0.682	T	T	55964954	C	T	55964954	2	4	104	1	0	0	0	0	0	0	0	1	8139	871	31	1		1	KDR	4	55964954	Silent	SNP	C	TCGA-AB-2912-03A-01W-0732-08		55964954	135189322	8	1138											
DUSP26	78986	genome.wustl.edu	37	8	33451143	33451143	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr8:33451143C>A	ENST00000256261.4	-	3	861	c.344G>T	c.(343-345)gGt>gTt	p.G115V	DUSP26_ENST00000523956.1_Missense_Mutation_p.G115V	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	115	Tyrosine-protein phosphatase.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell adhesion (GO:0045785)|positive regulation of peptidyl-serine dephosphorylation (GO:1902310)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	p53 binding (GO:0002039)|phosphoprotein phosphatase activity (GO:0004721)|phosphoserine phosphatase activity (GO:0004647)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA polymerase II activating transcription factor binding (GO:0001102)			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GGCCTCAACACCCAGGTAGCG	0.662																																						dbGAP											0			8											60	52	54					8																	33451143		2203	4300	6503	33570685	SO:0001583	missense	0			AY902194	CCDS6092.1	8p12	2014-09-09			ENSG00000133878	ENSG00000133878		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"	28161	protein-coding gene	gene with protein product							Standard	NM_024025		Approved	MGC1136, DUSP24	uc003xjp.3	Q9BV47	OTTHUMG00000163961	ENST00000256261.4:c.344G>T	8.37:g.33451143C>A	ENSP00000256261:p.Gly115Val	106	0	0					33570685	155	33.33	78	D3DSV8|Q9BTW0	Missense_Mutation	SNP	HMMPfam_DSPc,PatternScan_TYR_PHOSPHATASE_1,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II	p.G115V	ENST00000256261.4	37	c.344	CCDS6092.1	8	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898842	0.91962	.	.	ENSG00000133878	ENST00000256261;ENST00000523956;ENST00000522982	T;T;T	0.59772	0.24;0.24;0.24	4.97	4.97	0.65823	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.050980	0.85682	D	0.000000	T	0.75867	0.3908	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78031	-0.2363	10	0.59425	D	0.04	-29.8557	18.1919	0.89809	0.0:1.0:0.0:0.0	.	115	Q9BV47	DUS26_HUMAN	V	115	ENSP00000256261:G115V;ENSP00000429176:G115V;ENSP00000430922:G115V	ENSP00000256261:G115V	G	-	2	0	DUSP26	33570685	1.000000	0.71417	0.978000	0.43139	0.918000	0.54935	7.667000	0.83888	2.470000	0.83445	0.563000	0.77884	GGT	-	HMMPfam_DSPc,HMMSmart_SM00195,superfamily_(Phosphotyrosine protein) phosphatases II		0.662	DUSP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP26	protein_coding	OTTHUMT00000376564.1	C	NM_024025		33570685	-1	no_errors	NM_024025.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	33451143	C	A	33451143	3	1	104	1	0	0	0	0	1	0	0	0	4823	507	18	4	299	4	DUSP26	8	33451143	Missense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08		33451143	112912879	9	1139											
KCNU1	157855	genome.wustl.edu	37	8	36641947	36641947	+	Nonsense_Mutation	SNP	C	C	T	rs567477009		TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr8:36641947C>T	ENST00000399881.3	+	1	56	c.19C>T	c.(19-21)Cga>Tga	p.R7*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	7					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GACTAAGCTACGAAATGAAAC	0.453																																						dbGAP											0			8											114	107	109					8																	36641947		1949	4146	6095	36761105	SO:0001587	stop_gained	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.19C>T	8.37:g.36641947C>T	ENSP00000382770:p.Arg7*	112	0.88	1					36761105	157	31.74	73		Nonsense_Mutation	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324	p.R7*	ENST00000399881.3	37	c.19	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153495	0.78114	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	.	.	.	5.36	-1.52	0.08637	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	8.7258	0.34469	0.4875:0.2511:0.2613:0.0	.	.	.	.	X	7	.	ENSP00000382770:R7X	R	+	1	2	KCNU1	36761105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.972000	0.03802	-0.177000	0.10690	-1.426000	0.01102	CGA	-	NULL		0.453	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	C	NM_001031836		36761105	1	no_errors	NM_001031836.2	genbank	human	validated	54_36p	nonsense	SNP	0.000	T	T	36641947	C	T	36641947	4	4	104	1	0	0	0	0	0	1	0	0	8093	528	19	1	21	1	KCNU1	8	36641947	Nonsense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08	3190804	36641947	109722075	10	1140											
KHDRBS3	10656	genome.wustl.edu	37	8	136554945	136554945	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr8:136554945C>T	ENST00000355849.5	+	3	666	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	86	KH.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R86C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCTCTGAAGCGTTTACAAGA	0.368																																						dbGAP											1	Substitution - Missense(1)	prostate(1)	8											122	128	126					8																	136554945		2203	4300	6503	136624127	SO:0001583	missense	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.256C>T	8.37:g.136554945C>T	ENSP00000348108:p.Arg86Cys	124	0.8	1					136624127	206	24.26	66	Q6NUL8|Q9UPA8	Missense_Mutation	SNP	HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I)	p.R86C	ENST00000355849.5	37	c.256	CCDS6374.1	8	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694485	0.68386	.	.	ENSG00000131773	ENST00000355849;ENST00000524199;ENST00000517394	T;T;T	0.22134	1.97;1.97;1.97	5.82	3.99	0.46301	K Homology (1);	0.044642	0.85682	D	0.000000	T	0.49830	0.1580	M	0.89353	3.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.54302	-0.8314	10	0.87932	D	0	-10.2283	10.0747	0.42353	0.279:0.5864:0.1346:0.0	.	86;86	O75525-2;O75525	.;KHDR3_HUMAN	C	86;58;59	ENSP00000348108:R86C;ENSP00000431022:R58C;ENSP00000430284:R59C	ENSP00000348108:R86C	R	+	1	0	KHDRBS3	136624127	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.922000	0.48860	0.768000	0.33290	0.655000	0.94253	CGT	-	HMMSmart_SM00322,superfamily_Eukaryotic type KH-domain (KH-domain type I)		0.368	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS3	protein_coding	OTTHUMT00000377529.1	C			136624127	1	no_errors	NM_006558.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	136554945	C	T	136554945	3	4	104	1	0	0	0	0	1	0	0	0	8148	768	27	1	266	1	KHDRBS3	8	136554945	Missense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08	99912998	136554945	9809077	11	1141											
SMC3	9126	genome.wustl.edu	37	10	112343991	112343991	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr10:112343991G>A	ENST00000361804.4	+	13	1268	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	381					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.R381L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGCAGGGTCGAGGAAGCCAG	0.378																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)	10											113	113	113					10																	112343991		2203	4300	6503	112333981	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1142G>A	10.37:g.112343991G>A	ENSP00000354720:p.Arg381Gln	102	1.92	2		51	40	34	112333981	120	34.78	64	A8K156|O60464|Q5T482	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain	p.R381Q	ENST00000361804.4	37	c.1142	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	33	5.233286	0.95207	.	.	ENSG00000108055	ENST00000361804	T	0.76060	-0.99	5.76	5.76	0.90799	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85819	0.1384	10	0.44086	T	0.13	.	19.973	0.97292	0.0:0.0:1.0:0.0	.	381	Q9UQE7	SMC3_HUMAN	Q	381	ENSP00000354720:R381Q	ENSP00000354720:R381Q	R	+	2	0	SMC3	112333981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.405000	0.97313	2.725000	0.93324	0.460000	0.39030	CGA	-	HMMPfam_SMC_N,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.378	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112333981	1	no_errors	NM_005445.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	112343991	G	A	112343991	3	1	104	1	0	0	0	0	1	0	0	0	14784	1058	37	1	1192	1	SMC3	10	112343991	Missense_Mutation	SNP	G	TCGA-AB-2912-03A-01W-0732-08		112343991	23190756	12	1142											
DOCK1	1793	genome.wustl.edu	37	10	128840889	128840889	+	Splice_Site	SNP	T	T	A			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr10:128840889T>A	ENST00000280333.6	+	20	2057	c.1948T>A	c.(1948-1950)Ttt>Att	p.F650I		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	650					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GTCTATGCAGTTTCTTCAGGA	0.468																																						dbGAP											0			10											170	167	168					10																	128840889		2066	4234	6300	128730879	SO:0001630	splice_region_variant	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"DOwnstream of CrK"	601403	"dedicator of cyto-kinesis 1"			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1948-1T>A	10.37:g.128840889T>A		138	0	0		3	76.92	10	128730879	107	39.89	71	A9Z1Z5	Missense_Mutation	SNP	HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SH3,superfamily_Cytochrome_c	p.F650I	ENST00000280333.6	37	c.1948		10	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196671	0.79015	.	.	ENSG00000150760	ENST00000280333	T	0.22743	1.94	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.38746	0.1052	M	0.93328	3.405	0.80722	D	1	P;P	0.45827	0.758;0.867	B;B	0.41412	0.356;0.356	T	0.57888	-0.7733	9	.	.	.	.	14.8377	0.70197	0.0:0.0:0.0:1.0	.	650;650	B2RUU3;Q14185	.;DOCK1_HUMAN	I	650	ENSP00000280333:F650I	.	F	+	1	0	DOCK1	128730879	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	7.768000	0.85345	2.145000	0.66743	0.533000	0.62120	TTT	-	NULL		0.468	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	protein_coding	OTTHUMT00000050979.2	T	NM_001380	Missense_Mutation	128730879	1	no_errors	ENST00000398025	ensembl	human	known	54_36p	missense	SNP	1.000	A	A	128840889	T	A	128840889	5	1	104	1	0	0	0	0	0	0	1	0	4684	1739	60	5	2026	5	DOCK1	10	128840889	Splice_Site	SNP	T	TCGA-AB-2912-03A-01W-0732-08	16496898	128840889	6693858	13	1143											
PUS1	80324	genome.wustl.edu	37	12	132425864	132425864	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr12:132425864A>T	ENST00000376649.3	+	5	1072	c.572A>T	c.(571-573)aAc>aTc	p.N191I	PUS1_ENST00000535067.1_Intron|PUS1_ENST00000440818.2_Missense_Mutation_p.N163I|PUS1_ENST00000542167.2_Missense_Mutation_p.N138I|PUS1_ENST00000443358.2_Missense_Mutation_p.N163I	NM_025215.5	NP_079491.2	Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	191					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|tRNA pseudouridine synthesis (GO:0031119)	mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|pseudouridylate synthase activity (GO:0004730)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GGCGGGTTTAACTCCAAGAAC	0.597																																					Esophageal Squamous(102;671 2009 17384 45666)	dbGAP											0			12											83	66	72					12																	132425864		2203	4300	6503	130991817	SO:0001583	missense	0			AF116238	CCDS9275.2, CCDS31928.1	12q24	2004-05-17			ENSG00000177192	ENSG00000177192			15508	protein-coding gene	gene with protein product		608109				10094309	Standard	NM_001002019		Approved		uc001ujf.3	Q9Y606	OTTHUMG00000128507	ENST00000376649.3:c.572A>T	12.37:g.132425864A>T	ENSP00000365837:p.Asn191Ile	38	0	0		11	56	14	130991817	54	45.45	45	A8K877|B3KQC1|Q8WYT2|Q9BU44	Missense_Mutation	SNP	HMMPfam_PseudoU_synth_1,superfamily_Pseudouridine synthase	p.N191I	ENST00000376649.3	37	c.572	CCDS9275.2	12	.	.	.	.	.	.	.	.	.	.	A	21.6	4.178917	0.78564	.	.	ENSG00000177192	ENST00000443358;ENST00000376649;ENST00000322060;ENST00000440818;ENST00000542167;ENST00000537484	T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44	5.37	5.37	0.77165	Pseudouridine synthase I, TruA, N-terminal (1);Pseudouridine synthase, catalytic domain (1);Pseudouridine synthase I, TruA, alpha/beta domain (1);	0.000000	0.85682	D	0.000000	T	0.74007	0.3660	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.78494	-0.2182	10	0.87932	D	0	-12.2595	15.3712	0.74568	1.0:0.0:0.0:0.0	.	138;191	F5H1S9;Q9Y606	.;TRUA_HUMAN	I	163;191;163;163;138;166	ENSP00000392451:N163I;ENSP00000365837:N191I;ENSP00000324726:N163I;ENSP00000400032:N163I;ENSP00000438948:N138I;ENSP00000440179:N166I	ENSP00000324726:N163I	N	+	2	0	PUS1	130991817	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	7.507000	0.81676	2.042000	0.60477	0.459000	0.35465	AAC	-	HMMPfam_PseudoU_synth_1,superfamily_Pseudouridine synthase		0.597	PUS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUS1	protein_coding	OTTHUMT00000250313.2	A	NM_025215		130991817	1	no_errors	NM_025215.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	132425864	A	T	132425864	3	4	104	1	0	0	0	0	1	0	0	0	12830	43	2	5	590	5	PUS1	12	132425864	Missense_Mutation	SNP	A	TCGA-AB-2912-03A-01W-0732-08		132425864	1426031	14	1144											
CCDC33	80125	genome.wustl.edu	37	15	74536466	74536466	+	Silent	SNP	C	C	T	rs368462763		TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr15:74536466C>T	ENST00000398814.3	+	2	593	c.162C>T	c.(160-162)tcC>tcT	p.S54S	CCDC33_ENST00000321288.5_Silent_p.S257S	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	257								p.S257S(1)|p.S54S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGATGGCTCCGAGCCGTGGC	0.587																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)	15						C		0,4058		0,0,2029	55	60	59		162	-8.3	0	15		59	1,8369		0,1,4184	no	coding-synonymous	CCDC33	NM_025055.3		0,1,6213	TT,TC,CC		0.0119,0.0,0.0080		54/756	74536466	1,12427	2029	4185	6214	72323519	SO:0001819	synonymous_variant	0			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"cancer/testis antigen 61"					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.162C>T	15.37:g.74536466C>T		159	0	0					72323519	229	12.21	32	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Silent	SNP	HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)	p.S54	ENST00000398814.3	37	c.162	CCDS42058.1	15																																																																																			-	HMMPfam_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB)		0.587	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	protein_coding	OTTHUMT00000419491.2	C	NM_182791		72323519	1	no_errors	NM_025055.3	genbank	human	validated	54_36p	silent	SNP	0.120	T	T	74536466	C	T	74536466	2	4	104	1	0	0	0	0	0	0	0	1	2806	639	23	1		1	CCDC33	15	74536466	Silent	SNP	C	TCGA-AB-2912-03A-01W-0732-08		74536466	27994926	15	1145											
SLC25A35	399512	genome.wustl.edu	37	17	8198093	8198093	+	Silent	SNP	G	G	A			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr17:8198093G>A	ENST00000577745.1	-	1	543	c.33C>T	c.(31-33)tgC>tgT	p.C11C	SLC25A35_ENST00000396278.1_Silent_p.C11C|SLC25A35_ENST00000580340.1_Silent_p.C11C|SLC25A35_ENST00000380067.2_Silent_p.C11C|SLC25A35_ENST00000579192.1_Silent_p.C11C			Q3KQZ1	S2535_HUMAN	solute carrier family 25, member 35	11					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.C11C(1)		breast(2)|large_intestine(2)|lung(2)	6						CACAGGCCCCGCAGGCTGCCA	0.552																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)	17											55	58	57					17																	8198093		2203	4300	6503	8138818	SO:0001819	synonymous_variant	0			AY498866	CCDS11138.1	17p13.1	2013-05-22			ENSG00000125434	ENSG00000125434		"Solute carriers"	31921	protein-coding gene	gene with protein product		610818					Standard	NM_201520		Approved	FLJ40217	uc002gku.1	Q3KQZ1		ENST00000577745.1:c.33C>T	17.37:g.8198093G>A		68	0	0		0	100	4	8138818	95	37.91	58	Q494X5|Q6RGS3|Q8N7Y5	Silent	SNP	superfamily_Mitoch_carrier,HMMPfam_Mito_carr	p.C11	ENST00000577745.1	37	c.33		17																																																																																			-	superfamily_Mitoch_carrier,HMMPfam_Mito_carr		0.552	SLC25A35-002	KNOWN	basic|appris_principal	protein_coding	SLC25A35	protein_coding	OTTHUMT00000442146.1	G	NM_201520		8138818	-1	no_errors	NM_201520.1	genbank	human	provisional	54_36p	silent	SNP	0.992	A	A	8198093	G	A	8198093	2	1	104	1	0	0	0	0	0	0	0	1	14499	1079	38	1		1	SLC25A35	17	8198093	Silent	SNP	G	TCGA-AB-2912-03A-01W-0732-08		8198093	72997117	16	1146											
KRT19	3880	genome.wustl.edu	37	17	39680218	39680218	+	Missense_Mutation	SNP	G	G	C	rs149987744		TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr17:39680218G>C	ENST00000361566.3	-	6	1040	c.980C>G	c.(979-981)aCg>aGg	p.T327R	KRT15_ENST00000393974.3_5'Flank|KRT15_ENST00000393976.2_5'Flank|KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19	327	Coil 2.|Necessary for interaction with PNN.|Rod.	Stutter.			cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GCGCGCCTCCGTTTCTGCCAG	0.607																																						dbGAP											0			17											38	40	39					17																	39680218		2203	4294	6497	36933744	SO:0001583	missense	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"-", "Intermediate filaments type I, keratins (acidic)"	6436	protein-coding gene	gene with protein product	"keratin, type I cytoskeletal 19", "keratin, type I, 40-kd", "cytokeratin 19", "40-kDa keratin intermediate filament"	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.980C>G	17.37:g.39680218G>C	ENSP00000355124:p.Thr327Arg	35	5.41	2					36933744	56	37.78	34	B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.T327R	ENST00000361566.3	37	c.980	CCDS11399.1	17	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576426	0.45902	.	.	ENSG00000171345	ENST00000361566	D	0.89552	-2.53	5.17	4.18	0.49190	Filament (1);	0.151167	0.30979	N	0.008497	D	0.95909	0.8668	H	0.95574	3.69	0.80722	D	1	P;D	0.76494	0.949;0.999	P;D	0.77557	0.872;0.99	D	0.96806	0.9593	10	0.87932	D	0	.	14.1268	0.65225	0.0738:0.0:0.9262:0.0	.	490;327	B4DE59;P08727	.;K1C19_HUMAN	R	327	ENSP00000355124:T327R	ENSP00000355124:T327R	T	-	2	0	KRT19	36933744	1.000000	0.71417	0.643000	0.29450	0.038000	0.13279	6.717000	0.74707	1.155000	0.42497	0.556000	0.70494	ACG	-	HMMPfam_Filament		0.607	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	protein_coding	OTTHUMT00000257285.1	G	NM_002276		36933744	-1	no_errors	NM_002276.4	genbank	human	reviewed	54_36p	missense	SNP	0.990	C	C	39680218	G	C	39680218	3	2	104	1	0	0	0	0	1	0	0	0	8456	1145	40	4	226	4	KRT19	17	39680218	Missense_Mutation	SNP	G	TCGA-AB-2912-03A-01W-0732-08	31482125	39680218	41514992	17	1147											
UQCC	55245	genome.wustl.edu	37	20	33962000	33962000	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr20:33962000C>A	ENST00000374385.5	-	5	570	c.393G>T	c.(391-393)gaG>gaT	p.E131D	UQCC1_ENST00000397554.1_Missense_Mutation_p.E131D|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000491125.1_5'UTR|UQCC1_ENST00000397556.3_Missense_Mutation_p.E32D|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000359226.2_Intron|UQCC1_ENST00000374380.2_Missense_Mutation_p.E63D|UQCC1_ENST00000542501.1_Intron|UQCC1_ENST00000349714.5_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.E131D	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	131						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)											GAAAGAATTCCTCGAAGTCAG	0.343																																						dbGAP											0			20											78	77	78					20																	33962000		2203	4300	6503	33425414	SO:0001583	missense	0			AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"Mitochondrial respiratory chain complex assembly factors"	15891	protein-coding gene	gene with protein product	"Basic FGF-repressed Zic-binding protein", "cytochrome B protein synthesis 3 homolog (S. cerevisiae)"	611797	"chromosome 20 open reading frame 44", "ubiquinol-cytochrome c reductase complex chaperone"	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.393G>T	20.37:g.33962000C>A	ENSP00000363506:p.Glu131Asp	112	3.45	4		17	32	8	33425414	99	40.36	67	B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	HMMPfam_Ubiq_cyt_C_chap	p.E131D	ENST00000374385.5	37	c.393	CCDS13252.1	20	.	.	.	.	.	.	.	.	.	.	C	10.44	1.351587	0.24512	.	.	ENSG00000101019	ENST00000374384;ENST00000374380;ENST00000374385;ENST00000397556;ENST00000424405;ENST00000438533;ENST00000397554	T;T;T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13;-0.13;-0.13	4.61	4.61	0.57282	.	0.061380	0.64402	D	0.000005	T	0.61540	0.2355	L	0.39085	1.19	0.80722	D	1	B;D;D;D;P	0.67145	0.0;0.99;0.996;0.99;0.604	B;P;P;P;B	0.59115	0.001;0.852;0.754;0.852;0.277	T	0.53892	-0.8374	10	0.13108	T	0.6	-1.4588	10.7304	0.46093	0.0:0.9109:0.0:0.0891	.	63;123;131;131;131	B1AKV5;Q59FR0;B7ZBG3;B1AKV2;Q9NVA1	.;.;.;.;UQCC_HUMAN	D	131;63;131;32;99;145;131	ENSP00000363505:E131D;ENSP00000363501:E63D;ENSP00000363506:E131D;ENSP00000380688:E32D;ENSP00000399713:E99D;ENSP00000398531:E145D;ENSP00000380686:E131D	ENSP00000363501:E63D	E	-	3	2	UQCC	33425414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.158000	0.42329	2.540000	0.85666	0.557000	0.71058	GAG	-	NULL		0.343	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCC	protein_coding	OTTHUMT00000078866.1	C	NM_018244		33425414	-1	no_errors	NM_018244.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	33962000	C	A	33962000	3	1	104	1	0	0	0	0	1	0	0	0	17012	680	24	4	530	4	UQCC	20	33962000	Missense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08		33962000	29063520	18	1148											
RUNX1	861	genome.wustl.edu	37	21	36252877	36252877	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr21:36252877C>T	ENST00000344691.4	-	2	1981	c.404G>A	c.(403-405)aGg>aAg	p.R135K	RUNX1_ENST00000358356.5_Missense_Mutation_p.R135K|RUNX1_ENST00000437180.1_Missense_Mutation_p.R162K|RUNX1_ENST00000486278.2_Missense_Mutation_p.R138K|RUNX1_ENST00000399240.1_Missense_Mutation_p.R135K|RUNX1_ENST00000325074.5_Missense_Mutation_p.R150K|RUNX1_ENST00000300305.3_Missense_Mutation_p.R162K	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	135	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.N159fs*49(1)|p.R162K(1)		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						ACCGACAAACCTGAGGTCATT	0.438			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	2	Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)	21											122	108	113					21																	36252877		2203	4300	6503	35174747	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.404G>A	21.37:g.36252877C>T	ENSP00000340690:p.Arg135Lys	49	3.92	2		230	48.31	215	35174747	36	37.93	22	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.R162K	ENST00000344691.4	37	c.485	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	36	5.747782	0.96882	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99677	-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37;-6.37	5.31	5.31	0.75309	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	0.99782	0.9909	M	0.91300	3.195	0.80722	D	1	D;P;P;P;D;D;D	0.76494	0.999;0.954;0.745;0.472;0.963;0.998;0.995	D;D;D;P;D;D;D	0.85130	0.997;0.975;0.942;0.901;0.983;0.992;0.989	D	0.97315	0.9940	10	0.87932	D	0	-23.5262	19.3355	0.94316	0.0:1.0:0.0:0.0	.	162;135;135;138;162;150;135	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	K	135;162;162;150;135;138;135;150;138	ENSP00000340690:R135K;ENSP00000300305:R162K;ENSP00000409227:R162K;ENSP00000319459:R150K;ENSP00000382184:R135K;ENSP00000351123:R135K;ENSP00000382182:R150K;ENSP00000438019:R138K	ENSP00000300305:R162K	R	-	2	0	RUNX1	35174747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.445000	0.80570	2.652000	0.90054	0.655000	0.94253	AGG	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.438	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	C			35174747	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	36252877	C	T	36252877	3	4	104	1	0	0	0	0	1	0	0	0	13746	681	24	2	1010	2	RUNX1	21	36252877	Missense_Mutation	SNP	C	TCGA-AB-2912-03A-01W-0732-08		36252877	11877018	19	1149											
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	21						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	43397525	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	39	0	0		78	46.94	69	43397525	55	36.05	31	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	G	NM_006758		43397525	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	44524456	G	A	44524456	3	1	104	1	0	0	0	0	1	0	0	0	16818	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-AB-2912-03A-01W-0732-08	8271579	44524456	3605439	20	1150											
RPS6KA6	27330	genome.wustl.edu	37	X	83320023	83320023	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chrX:83320023G>A	ENST00000262752.2	-	21	2075	c.2068C>T	c.(2068-2070)Cca>Tca	p.P690S	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.P690S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	690					axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TGATCATTTGGCAACTGGTCT	0.378																																						dbGAP											0			X											212	183	193					X																	83320023		2203	4300	6503	83206679	SO:0001583	missense	0			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"ribosomal protein S6 kinase, 90kD, polypeptide 6"			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2068C>T	X.37:g.83320023G>A	ENSP00000262752:p.Pro690Ser	94	1.05	1					83206679	69	18.82	16	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	PatternScan_SERPIN,HMMSmart_SM00133,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,HMMPfam_Pkinase_C	p.P690S	ENST00000262752.2	37	c.2068	CCDS14451.1	X	.	.	.	.	.	.	.	.	.	.	G	8.092	0.774640	0.16051	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.39056	1.1;1.1	4.86	2.1	0.27182	Protein kinase-like domain (1);	0.161160	0.56097	N	0.000028	T	0.22244	0.0536	N	0.26042	0.785	0.51233	D	0.999916	B;B	0.15141	0.012;0.006	B;B	0.15052	0.012;0.006	T	0.13980	-1.0489	10	0.06236	T	0.91	.	6.8886	0.24216	0.1557:0.0:0.7025:0.1418	.	690;690	B7ZL90;Q9UK32	.;KS6A6_HUMAN	S	690	ENSP00000262752:P690S;ENSP00000440830:P690S	ENSP00000262752:P690S	P	-	1	0	RPS6KA6	83206679	1.000000	0.71417	0.003000	0.11579	0.982000	0.71751	5.905000	0.69893	0.079000	0.16929	-0.191000	0.12829	CCA	-	superfamily_Protein kinase-like (PK-like)		0.378	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA6	protein_coding	OTTHUMT00000057372.1	G	NM_014496		83206679	-1	no_errors	NM_014496.2	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	83320023	G	A	83320023	3	1	104	1	0	0	0	0	1	0	0	0	13655	1203	42	2	177	2	RPS6KA6	23	83320023	Missense_Mutation	SNP	G	TCGA-AB-2912-03A-01W-0732-08		83320023	71950537	21	1151											
PHF6	84295	genome.wustl.edu	37	X	133511712	133511713	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2912-03A-01W-0732-08	TCGA-AB-2912-11A-01W-0761-09	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	da01cad7-961b-46e2-8a80-9c846694ad5b	c362f010-f227-4bf7-9e9c-15c7a15ce496	g.chrX:133511712_133511713insA	ENST00000332070.3	+	2	267_268	c.65_66insA	c.(64-69)tcaaatfs	p.N23fs	PHF6_ENST00000370799.1_Frame_Shift_Ins_p.N23fs|PHF6_ENST00000370803.3_Frame_Shift_Ins_p.N23fs|PHF6_ENST00000416404.2_Frame_Shift_Ins_p.N23fs|PHF6_ENST00000394292.1_Frame_Shift_Ins_p.N23fs|PHF6_ENST00000370800.4_Frame_Shift_Ins_p.N23fs	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	23	Extended PHD1 domain (ePHD1).				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)					TTTTGTAAGTCAAATAGAGACA	0.416			"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																																								133339379	SO:0001589	frameshift_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.68dupA	X.37:g.133511715_133511715dupA	ENSP00000329097:p.Asn23fs	24	0	0		4	66.67	8	133339378	17	64.58	31	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Frame_Shift_Ins	INS	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger	p.N23fs	ENST00000332070.3	37	c.65_66	CCDS14639.1	X																																																																																			-	NULL		0.416	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	-	NM_032458		133339379	1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	A	A	133511713	-	A	133511712	7	5	104	1	0	1	1	0	0	0	0	0	11838	838	29	0	67	0	PHF6	23	133511712	Frame_Shift_Ins	INS	-	TCGA-AB-2912-03A-01W-0732-08	50191689	133511712	21758848	22	1152											
ATP2B2	491	genome.wustl.edu	37	3	10387072	10387072	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr3:10387072G>A	ENST00000352432.4	-	17	2768	c.2699C>T	c.(2698-2700)aCg>aTg	p.T900M	ATP2B2_ENST00000397077.1_Missense_Mutation_p.T855M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T855M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T900M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T886M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	900					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCCACCTGCGTGATGCAGGC	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0			3											94	77	83					3																	10387072		2203	4300	6503	10362072	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"ATPases / P-type"	815	protein-coding gene	gene with protein product	"plasma membrane Ca2+ pump 2", "plasma membrane calcium-transporting ATPase 2"	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.2699C>T	3.37:g.10387072G>A	ENSP00000324172:p.Thr900Met	375	3.6	14					10362072	125	38.12	77	O00766|Q12994|Q16818	Missense_Mutation	SNP	HMMPfam_Cation_ATPase_N,HMMPfam_Hydrolase,HMMPfam_Cation_ATPase_C,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_Calcium ATPase transmembrane domain M	p.T900M	ENST00000352432.4	37	c.2699	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107114	0.77096	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42	4.15	4.15	0.48705	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.91253	0.7243	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;0.987;0.995	D;P;P	0.85130	0.997;0.743;0.852	D	0.92602	0.6092	10	0.66056	D	0.02	-17.7409	16.8194	0.85742	0.0:0.0:1.0:0.0	.	835;867;900	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	900;855;855;900;886;835;89;756;900	ENSP00000324172:T900M;ENSP00000373311:T855M;ENSP00000380267:T855M;ENSP00000353414:T900M;ENSP00000344677:T886M;ENSP00000414854:T756M	ENSP00000342954:T900M	T	-	2	0	ATP2B2	10362072	1.000000	0.71417	0.992000	0.48379	0.563000	0.35712	9.772000	0.98984	2.038000	0.60285	0.555000	0.69702	ACG	-	superfamily_Calcium ATPase transmembrane domain M		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	protein_coding	OTTHUMT00000250576.2	G	NM_001683		10362072	-1	no_errors	NM_001001331.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	10387072	G	A	10387072	3	1	105	1	0	0	0	0	1	0	0	0	1140	1145	40	1	1056	1	ATP2B2	3	10387072	Missense_Mutation	SNP	G	TCGA-AB-2913-03A-01W-0732-08		10387072	187635358	1	1153											
ADAMTS9	56999	genome.wustl.edu	37	3	64532572	64532572	+	Silent	SNP	A	A	T			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr3:64532572A>T	ENST00000498707.1	-	32	5268	c.4926T>A	c.(4924-4926)atT>atA	p.I1642I	ADAMTS9_ENST00000295903.4_Silent_p.I1614I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1642	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TCCCGGTGTAAATCTCGCTGC	0.537																																						dbGAP											0			3											142	127	132					3																	64532572		2203	4300	6503	64507612	SO:0001819	synonymous_variant	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"ADAM metallopeptidases with thrombospondin type 1 motif"	13202	protein-coding gene	gene with protein product		605421	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4926T>A	3.37:g.64532572A>T		130	3.6	5					64507612	150	49.5	148	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,HMMPfam_GON,superfamily_Metalloproteases ("zincins") catalytic domain	p.I1642	ENST00000498707.1	37	c.4926	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	A	9.970	1.225143	0.22457	.	.	ENSG00000163638	ENST00000481060	.	.	.	5.6	3.22	0.36961	.	.	.	.	.	T	0.57888	0.2084	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50617	-0.8807	4	.	.	.	.	8.32	0.32124	0.7846:0.0:0.2154:0.0	.	.	.	.	Y	698	.	.	F	-	2	0	ADAMTS9	64507612	0.931000	0.31567	1.000000	0.80357	0.967000	0.64934	0.130000	0.15850	0.405000	0.25532	-0.290000	0.09829	TTT	-	HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat		0.537	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	A			64507612	-1	no_errors	NM_182920.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	64532572	A	T	64532572	2	4	105	1	0	0	0	0	0	0	0	1	273	10	1	5		5	ADAMTS9	3	64532572	Silent	SNP	A	TCGA-AB-2913-03A-01W-0732-08	54145500	64532572	133489858	2	1154											
RGNEF	64283	genome.wustl.edu	37	5	73136563	73136563	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr5:73136563C>A	ENST00000426542.2	+	10	1425	c.1405C>A	c.(1405-1407)Caa>Aaa	p.Q469K	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.Q156K|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.Q469K|ARHGEF28_ENST00000513841.1_3'UTR			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	469					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TGAAAAGGAACAAAGTCATCT	0.373																																						dbGAP											0			5											62	57	59					5																	73136563		1874	4106	5980	73172319	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1405C>A	5.37:g.73136563C>A	ENSP00000412175:p.Gln469Lys	118	4.07	5					73172319	76	45.21	66	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_PH domain-like,superfamily_Cysteine-rich domain	p.Q469K	ENST00000426542.2	37	c.1405	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190059	0.38707	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10573	3.1;3.1;3.09;2.86;3.1;3.09;2.91	5.97	5.1	0.69264	.	.	.	.	.	T	0.13841	0.0335	L	0.59436	1.845	0.21822	N	0.999527	B;B;B;P;B	0.42296	0.172;0.062;0.049;0.775;0.082	B;B;B;B;B	0.39660	0.039;0.053;0.039;0.306;0.085	T	0.11203	-1.0597	9	0.33940	T	0.23	.	12.5439	0.56188	0.1666:0.8334:0.0:0.0	.	156;469;469;469;469	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	K	469;469;469;469;469;469;156	ENSP00000296794:Q469K;ENSP00000441913:Q469K;ENSP00000441436:Q469K;ENSP00000287898:Q469K;ENSP00000411459:Q469K;ENSP00000412175:Q469K;ENSP00000296799:Q156K	ENSP00000287898:Q469K	Q	+	1	0	RP11-428C6.1	73172319	0.995000	0.38212	0.211000	0.23655	0.726000	0.41606	4.097000	0.57741	1.517000	0.48917	-0.181000	0.13052	CAA	-	NULL		0.373	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGNEF	protein_coding	OTTHUMT00000368975.1	C			73172319	1	no_errors	NM_001080479.1	genbank	human	provisional	54_36p	missense	SNP	0.990	A	A	73136563	C	A	73136563	3	1	105	1	0	0	0	0	1	0	0	0	13283	479	17	4	1443	4	RGNEF	5	73136563	Missense_Mutation	SNP	C	TCGA-AB-2913-03A-01W-0732-08		73136563	107778697	3	1155											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	105	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2913-03A-01W-0732-08	97700984	170837547	10077713	4	1156											
WT1	7490	genome.wustl.edu	37	11	32417802	32417802	+	Splice_Site	SNP	C	C	G			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr11:32417802C>G	ENST00000379079.2	-	7	887		c.e7+1		WT1_ENST00000332351.3_Splice_Site|WT1_ENST00000448076.3_Splice_Site|WT1_ENST00000530998.1_Splice_Site	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGCACACTTACCAGTGTGCTT	0.502			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	0			11											110	94	100					11																	32417802		2202	4299	6501	32374378	SO:0001630	splice_region_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.613+1G>C	11.37:g.32417802C>G		150	10.71	18		0	100	5	32374378	8	89.61	69	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Splice_Site	SNP	-	e7+1	ENST00000379079.2	37	c.1249+1	CCDS55751.1	11	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614218	0.87359	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527882	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WT1	32374378	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	.	-	-		0.502	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	C	NM_000378	Intron	32374378	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G	G	32417802	C	G	32417802	5	3	105	1	0	0	0	0	0	0	1	0	17405	521	18	4	319	4	WT1	11	32417802	Splice_Site	SNP	C	TCGA-AB-2913-03A-01W-0732-08		32417802	102588714	5	1157											
FLT3	2322	genome.wustl.edu	37	13	28608240	28608241	+	In_Frame_Ins	INS	-	-	AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	rs61729139	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	-	-	-	AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr13:28608240_28608241insAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	ENST00000241453.7	-	14	1896_1897	c.1815_1816insTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTT	c.(1813-1818)tttcca>tttTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTcca	p.604_605insFSSDNEYFYVDFREYEYDLKWE	FLT3_ENST00000537084.1_In_Frame_Ins_p.604_605insFSSDNEYFYVDFREYEYDLKWE|FLT3_ENST00000380982.4_In_Frame_Ins_p.604_605insFSSDNEYFYVDFREYEYDLKWE	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	604					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.P606_R607ins21(1)|p.605_606>GSSDNEYFYVDFREYEYDLKWEF(1)|p.F605_P606insDLKWEF(1)|p.F605_P606ins13(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTCTCTTGGAAACTCCCATT	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	4	Insertion - In frame(3)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	13																																								27506241	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1750_1815dupTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTT	13.37:g.28608240_28608241insAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	ENSP00000241453:p.Glu604_Phe605insPheSerSerAspAsnGluTyrPheTyrValAspPheArgGluTyrGluTyrAspLeuLysTrpGlu								27506240				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.605in_frame_insSSDNEYFYVDFREYEYDLKWEF	ENST00000241453.7	37	c.1816_1815	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506241	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	28608241	-	AAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGA	28608240	7	5	105	1	0	1	1	0	0	0	0	0	5942	1174	41	0	1209	0	FLT3	13	28608240	In_Frame_Ins	INS	-	TCGA-AB-2913-03A-01W-0732-08		28608240	86561638	6	1158											
ALPK3	57538	genome.wustl.edu	37	15	85401206	85401206	+	Silent	SNP	G	G	A			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr15:85401206G>A	ENST00000258888.5	+	6	4010	c.3843G>A	c.(3841-3843)gaG>gaA	p.E1281E		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1281					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TAGACGAGGAGGACCCTGGGC	0.677																																						dbGAP											0			15											15	13	14					15																	85401206		2178	4260	6438	83202210	SO:0001819	synonymous_variant	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	17574	protein-coding gene	gene with protein product	"myocyte induction differentiation originator", "muscle alpha-kinase"					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.3843G>A	15.37:g.85401206G>A		122	3.17	4					83202210	80	46.36	70	Q9P2L6	Silent	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_Alpha_kinase,HMMSmart_SM00811,superfamily_Protein kinase-like (PK-like),HMMPfam_I-set,superfamily_Immunoglobulin	p.E1281	ENST00000258888.5	37	c.3843	CCDS10333.1	15																																																																																			-	NULL		0.677	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	protein_coding	OTTHUMT00000308997.1	G	NM_020778		83202210	1	no_errors	NM_020778.4	genbank	human	validated	54_36p	silent	SNP	0.865	A	A	85401206	G	A	85401206	2	1	105	1	0	0	0	0	0	0	0	1	546	991	35	2		2	ALPK3	15	85401206	Silent	SNP	G	TCGA-AB-2913-03A-01W-0732-08		85401206	17130186	7	1159											
ADAMTS17	170691	genome.wustl.edu	37	15	100589063	100589063	+	Splice_Site	SNP	G	G	A	rs61757475	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr15:100589063G>A	ENST00000268070.4	-	18	2695	c.2590C>T	c.(2590-2592)Cgg>Tgg	p.R864W		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	864	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GCTTCTTACCGTGACTGGCAG	0.577																																						dbGAP											0			15						G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	102	97	99		2590	1	1	15	dbSNP_129	99	2,8598	2.2+/-6.3	0,2,4298	yes	missense-near-splice	ADAMTS17	NM_139057.2	101	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	probably-damaging	864/1096	100589063	4,13002	2203	4300	6503	98406586	SO:0001630	splice_region_variant	0			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"ADAM metallopeptidases with thrombospondin type 1 motif"	17109	protein-coding gene	gene with protein product		607511	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2591+1C>T	15.37:g.100589063G>A		208	7.52	17					98406586	61	38.38	38	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMSmart_SM00608,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_ADAM_spacer1,HMMPfam_PLAC,superfamily_Metalloproteases ("zincins") catalytic domain	p.R864W	ENST00000268070.4	37	c.2590	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468888	0.43839	4.54E-4	2.33E-4	ENSG00000140470	ENST00000268070	T	0.61510	0.1	4.59	0.971	0.19698	.	0.083012	0.45867	N	0.000325	T	0.63414	0.2509	H	0.94925	3.6	0.58432	D	0.999998	B	0.15473	0.013	B	0.06405	0.002	T	0.63278	-0.6673	10	0.66056	D	0.02	.	7.9905	0.30237	0.0837:0.0:0.4823:0.434	rs61757475	864	Q8TE56	ATS17_HUMAN	W	864	ENSP00000268070:R864W	ENSP00000268070:R864W	R	-	1	2	ADAMTS17	98406586	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	0.740000	0.26188	0.342000	0.23796	0.655000	0.94253	CGG	-	HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat		0.577	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	G	NM_139057	Missense_Mutation	98406586	-1	no_errors	NM_139057.2	genbank	human	reviewed	54_36p	missense	SNP	0.986	A	A	100589063	G	A	100589063	5	1	105	1	0	0	0	0	0	0	1	0	262	1159	40	1	717	1	ADAMTS17	15	100589063	Splice_Site	SNP	G	TCGA-AB-2913-03A-01W-0732-08	15187857	100589063	1942329	8	1160											
ZNF646	9726	genome.wustl.edu	37	16	31090269	31090269	+	Missense_Mutation	SNP	C	C	T	rs75586809	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr16:31090269C>T	ENST00000394979.2	+	1	3047	c.2624C>T	c.(2623-2625)gCg>gTg	p.A875V	ZNF646_ENST00000300850.5_Missense_Mutation_p.A875V			O15015	ZN646_HUMAN	zinc finger protein 646	875					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CCTGGGGAGGCGACCTCAGCA	0.642													C|||	24	0.00479233	8e-04	0.0115	5008	,	,		21323	0		0.0139	False		,,,				2504	0.001					dbGAP											0			16						C	VAL/ALA	20,4374	26.2+/-53.5	0,20,2177	51	54	53		2624	2	0.3	16	dbSNP_131	53	149,8451	71.3+/-133.9	1,147,4152	yes	missense	ZNF646	NM_014699.3	64	1,167,6329	TT,TC,CC		1.7326,0.4552,1.3006	benign	875/1833	31090269	169,12825	2197	4300	6497	30997770	SO:0001583	missense	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"Zinc fingers, C2H2-type"	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.2624C>T	16.37:g.31090269C>T	ENSP00000378429:p.Ala875Val	385	11.24	49		3	70	7	30997770	43	45.78	38	Q8IVD8	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A875V	ENST00000394979.2	37	c.2624		16	14	0.00641025641025641	0	0.0	4	0.011049723756906077	0	0.0	10	0.013192612137203167	C	10.60	1.394311	0.25205	0.004552	0.017326	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.09538	2.97;2.99	5.1	2.01	0.26516	.	.	.	.	.	T	0.02533	0.0077	N	0.19112	0.55	0.21762	N	0.999553	B	0.24768	0.111	B	0.17722	0.019	T	0.44757	-0.9307	9	0.09590	T	0.72	-4.0386	7.7886	0.29106	0.0:0.6518:0.0:0.3482	.	875	O15015-2	.	V	875	ENSP00000300850:A875V;ENSP00000378429:A875V	ENSP00000300850:A875V	A	+	2	0	ZNF646	30997770	0.000000	0.05858	0.330000	0.25442	0.849000	0.48306	-1.042000	0.03539	0.163000	0.19507	0.563000	0.77884	GCG	-	NULL		0.642	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	protein_coding	OTTHUMT00000108510.2	C	NM_014699		30997770	1	no_errors	NM_014699.3	genbank	human	validated	54_36p	missense	SNP	0.122	T	T	31090269	C	T	31090269	3	4	105	1	0	0	0	0	1	0	0	0	18059	768	27	1	2626	1	ZNF646	16	31090269	Missense_Mutation	SNP	C	TCGA-AB-2913-03A-01W-0732-08		31090269	59264484	9	1161											
TOX3	27324	genome.wustl.edu	37	16	52479987	52479987	+	Silent	SNP	A	A	T			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr16:52479987A>T	ENST00000219746.9	-	5	1109	c.825T>A	c.(823-825)ggT>ggA	p.G275G	TOX3_ENST00000407228.3_Silent_p.G270G	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	275					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGGGTTTTGACCTTTAATTG	0.438																																						dbGAP											0			16											113	108	109					16																	52479987		1922	4162	6084	51037488	SO:0001819	synonymous_variant	0			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"Trinucleotide (CAG) repeat containing"	11972	protein-coding gene	gene with protein product		611416	"trinucleotide repeat containing 9"	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.825T>A	16.37:g.52479987A>T		364	2.67	10					51037488	224	40.11	152	B4DRD0|B5MCW4	Silent	SNP	HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box	p.G275	ENST00000219746.9	37	c.825	CCDS54009.1	16																																																																																			-	HMMPfam_HMG_box,HMMSmart_HMG,superfamily_HMG-box		0.438	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	protein_coding	OTTHUMT00000422534.1	A	XM_049037		51037488	-1	no_errors	NM_001080430.1	genbank	human	provisional	54_36p	silent	SNP	0.973	T	T	52479987	A	T	52479987	2	4	105	1	0	0	0	0	0	0	0	1	16376	262	10	5		5	TOX3	16	52479987	Silent	SNP	A	TCGA-AB-2913-03A-01W-0732-08	21389718	52479987	37874766	10	1162											
HSD17B1	3292	genome.wustl.edu	37	17	40706488	40706488	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr17:40706488A>G	ENST00000585807.1	+	5	4325	c.605A>G	c.(604-606)gAg>gGg	p.E202G	RP11-400F19.6_ENST00000590513.1_RNA|RP11-400F19.8_ENST00000585572.1_RNA|HSD17B1_ENST00000225929.5_Missense_Mutation_p.E203G	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	202					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	GGCAGCCCAGAGGAGGTGCTG	0.642																																						dbGAP											0			17											56	44	48					17																	40706488		2203	4300	6503	37960014	SO:0001583	missense	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"	5210	protein-coding gene	gene with protein product	"Estradiol 17-beta-dehydrogenase-1", "short chain dehydrogenase/reductase family 28CE, member 1"	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.605A>G	17.37:g.40706488A>G	ENSP00000466799:p.Glu202Gly	160	7.47	13		10	23.08	3	37960014	36	51.28	40	B3KXS1|Q2M2L8	Missense_Mutation	SNP	HMMPfam_adh_short,PatternScan_ADH_SHORT,superfamily_NAD(P)-binding Rossmann-fold domains	p.E202G	ENST00000585807.1	37	c.605	CCDS11428.1	17	.	.	.	.	.	.	.	.	.	.	A	4.774	0.143837	0.09134	.	.	ENSG00000108786	ENST00000225929	.	.	.	4.32	2.19	0.27852	NAD(P)-binding domain (1);	0.579077	0.19084	N	0.123161	T	0.06462	0.0166	N	0.00260	-1.75	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.37056	-0.9722	9	0.15499	T	0.54	.	6.5902	0.22642	0.2247:0.0:0.7753:0.0	.	233;202	B3RFR9;P14061	.;DHB1_HUMAN	G	202	.	ENSP00000225929:E202G	E	+	2	0	HSD17B1	37960014	0.087000	0.21565	0.004000	0.12327	0.001000	0.01503	0.774000	0.26675	0.462000	0.27095	-0.608000	0.04076	GAG	-	superfamily_NAD(P)-binding Rossmann-fold domains		0.642	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	protein_coding	OTTHUMT00000450392.1	A	NM_000413		37960014	1	no_errors	NM_000413.2	genbank	human	validated	54_36p	missense	SNP	0.008	G	G	40706488	A	G	40706488	3	3	105	1	0	0	0	0	1	0	0	0	7378	304	11	3	623	3	HSD17B1	17	40706488	Missense_Mutation	SNP	A	TCGA-AB-2913-03A-01W-0732-08		40706488	40488722	11	1163											
TMEM104	54868	genome.wustl.edu	37	17	72791224	72791224	+	Silent	SNP	G	G	A	rs117688715		TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr17:72791224G>A	ENST00000335464.5	+	7	663	c.501G>A	c.(499-501)gtG>gtA	p.V167V	TMEM104_ENST00000582773.1_Silent_p.V167V|TMEM104_ENST00000417024.2_Silent_p.V180V|TMEM104_ENST00000582330.1_Silent_p.V167V	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	167						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					CTGCTGCCGTGCCCTTCTCCC	0.567													G|||	1	0.000199681	0	0	5008	,	,		18694	0		0.001	False		,,,				2504	0					dbGAP											0			17						G		1,4405	2.1+/-5.4	0,1,2202	184	150	161		501	4.1	1	17	dbSNP_132	161	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	TMEM104	NM_017728.3		0,4,6499	AA,AG,GG		0.0349,0.0227,0.0308		167/497	72791224	4,13002	2203	4300	6503	70302819	SO:0001819	synonymous_variant	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.501G>A	17.37:g.72791224G>A		604	5.46	35		12	52	13	70302819	126	47.37	117	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	HMMPfam_Aa_trans	p.V167	ENST00000335464.5	37	c.501	CCDS32723.1	17																																																																																			-	NULL		0.567	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	protein_coding	OTTHUMT00000444442.1	G	NM_017728		70302819	1	no_errors	NM_017728.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	72791224	G	A	72791224	2	1	105	1	0	0	0	0	0	0	0	1	16015	1306	46	2		2	TMEM104	17	72791224	Silent	SNP	G	TCGA-AB-2913-03A-01W-0732-08	32084736	72791224	8403986	12	1164											
FKBP8	23770	genome.wustl.edu	37	19	18652580	18652580	+	Silent	SNP	C	C	T	rs61742106	byFrequency	TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr19:18652580C>T	ENST00000596558.2	-	2	310	c.201G>A	c.(199-201)gaG>gaA	p.E67E	FKBP8_ENST00000597960.3_Silent_p.E67E|FKBP8_ENST00000610101.1_Silent_p.E67E|FKBP8_ENST00000453489.2_Silent_p.E96E|FKBP8_ENST00000222308.4_Silent_p.E67E|FKBP8_ENST00000608443.1_Silent_p.E67E			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	67	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCCCAGGCTGCTCAGCCTCCT	0.667													C|||	14	0.00279553	0.0015	0.0029	5008	,	,		15804	0		0.0099	False		,,,				2504	0					dbGAP											0			19						C		9,4397	15.5+/-35.6	0,9,2194	27	28	28		201	1.8	0.9	19	dbSNP_129	28	77,8523	44.0+/-102.2	0,77,4223	no	coding-synonymous	FKBP8	NM_012181.3		0,86,6417	TT,TC,CC		0.8953,0.2043,0.6612		67/414	18652580	86,12920	2203	4300	6503	18513580	SO:0001819	synonymous_variant	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"Tetratricopeptide (TTC) repeat domain containing"	3724	protein-coding gene	gene with protein product	"FK506-binding protein 8 (38kD)"	604840	"FK506-binding protein 8 (38kD)"			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.201G>A	19.37:g.18652580C>T		606	6.05	39		39	45.83	33	18513580	47	40	32	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Silent	SNP	HMMPfam_FKBP_C,HMMPfam_TPR_1,superfamily_SSF48452,superfamily_SSF54534	p.E67	ENST00000596558.2	37	c.201		19																																																																																			-	superfamily_SSF54534		0.667	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	protein_coding	OTTHUMT00000466374.3	C	NM_012181		18513580	-1	no_errors	NM_012181.3	genbank	human	reviewed	54_36p	silent	SNP	0.994	T	T	18652580	C	T	18652580	2	4	105	1	0	0	0	0	0	0	0	1	5914	796	28	2		2	FKBP8	19	18652580	Silent	SNP	C	TCGA-AB-2913-03A-01W-0732-08		18652580	40476403	13	1165											
EGLN2	112398	genome.wustl.edu	37	19	41306984	41306984	+	Silent	SNP	G	G	A			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr19:41306984G>A	ENST00000593726.1	+	1	1535	c.507G>A	c.(505-507)gcG>gcA	p.A169A	CTC-490E21.12_ENST00000601627.1_5'Flank|EGLN2_ENST00000406058.2_Silent_p.A169A|EGLN2_ENST00000594140.1_5'Flank|RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000303961.4_Silent_p.A169A			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	169					cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	TGGAGGAGGCGCTGCCCTCTG	0.667																																						dbGAP											0			19											44	47	46					19																	41306984		2203	4300	6503	45998824	SO:0001819	synonymous_variant	0			AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"HIF prolyl hydroxylase 1"	606424	"EGL nine (C.elegans) homolog 2", "egl nine homolog 2 (C. elegans)"				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.507G>A	19.37:g.41306984G>A		158	0.63	1		8	50	8	45998824	50	47.96	47	A8K5S0|Q8WWY4|Q9BV14	Silent	SNP	HMMPfam_2OG-FeII_Oxy,HMMSmart_SM00702	p.A169	ENST00000593726.1	37	c.507	CCDS12567.1	19																																																																																			-	NULL		0.667	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EGLN2	protein_coding	OTTHUMT00000463218.1	G			45998824	1	no_errors	NM_053046.2	genbank	human	reviewed	54_36p	silent	SNP	0.001	A	A	41306984	G	A	41306984	2	1	105	1	0	0	0	0	0	0	0	1	4969	1074	38	1		1	EGLN2	19	41306984	Silent	SNP	G	TCGA-AB-2913-03A-01W-0732-08	22654404	41306984	17821999	14	1166											
ZNF548	147694	genome.wustl.edu	37	19	57911210	57911210	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chr19:57911210A>G	ENST00000366197.5	+	3	1805	c.1555A>G	c.(1555-1557)Acc>Gcc	p.T519A	ZNF548_ENST00000336128.7_Missense_Mutation_p.T531A|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	519					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAAACTCCAACCTCATTAAA	0.353																																						dbGAP											0			19											43	42	42					19																	57911210		1921	4153	6074	62603022	SO:0001583	missense	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"Zinc fingers, C2H2-type", "-"	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1555A>G	19.37:g.57911210A>G	ENSP00000379482:p.Thr519Ala	549	5.65	33		13	55.17	16	62603022	278	41.41	200	Q96M05	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.T519A	ENST00000366197.5	37	c.1555	CCDS46209.1	19	.	.	.	.	.	.	.	.	.	.	A	0.040	-1.289862	0.01387	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.05081	3.5;3.52	2.28	-4.56	0.03431	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40346	-0.9568	9	0.32370	T	0.25	.	8.0406	0.30519	0.1592:0.0:0.7328:0.1081	.	531;519	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	A	531;519	ENSP00000337555:T531A;ENSP00000379482:T519A	ENSP00000337555:T531A	T	+	1	0	ZNF548	62603022	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-2.532000	0.00943	-2.252000	0.00699	-1.264000	0.01445	ACC	-	NULL		0.353	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	protein_coding	OTTHUMT00000465937.1	A	NM_152909		62603022	1	no_errors	NM_152909.2	genbank	human	provisional	54_36p	missense	SNP	0.000	G	G	57911210	A	G	57911210	3	3	105	1	0	0	0	0	1	0	0	0	17977	43	2	3	1605	3	ZNF548	19	57911210	Missense_Mutation	SNP	A	TCGA-AB-2913-03A-01W-0732-08	16604226	57911210	1217773	15	1167											
STAG2	10735	genome.wustl.edu	37	X	123200288	123200288	+	Splice_Site	SNP	T	T	C			TCGA-AB-2913-03A-01W-0732-08	TCGA-AB-2913-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8efe9ea1-d3b2-4fe0-a602-d91c6fdedeb4	7543443c-c06e-445e-a2bd-aae43484175a	g.chrX:123200288T>C	ENST00000371160.1	+	23	2555		c.e23+2		STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTACAAAGGTTTGTGGTGGT	0.343																																						dbGAP											0			X											80	62	68					X																	123200288		2203	4300	6503	123027969	SO:0001630	splice_region_variant	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2265+2T>C	X.37:g.123200288T>C		63	3.08	2		0	100	100	123027969	11	85.33	64	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	-	e21+2	ENST00000371160.1	37	c.2265+2	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	T	19.46	3.830953	0.71258	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9839	0.58581	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123027969	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.997000	0.88414	1.849000	0.53698	0.486000	0.48141	.	-	-		0.343	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	T	NM_006603	Intron	123027969	1	no_errors	NM_001042749.1	genbank	human	validated	54_36p	splice_site	SNP	1.000	C	C	123200288	T	C	123200288	5	2	105	1	0	0	0	0	0	0	1	0	15242	1739	60	3	2349	3	STAG2	23	123200288	Splice_Site	SNP	T	TCGA-AB-2913-03A-01W-0732-08		123200288	32070272	16	1168											
LPPR4	9890	genome.wustl.edu	37	1	99772369	99772369	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr1:99772369G>A	ENST00000370185.3	+	7	2592	c.2095G>A	c.(2095-2097)Gga>Aga	p.G699R	LPPR4_ENST00000457765.1_Missense_Mutation_p.G641R|LPPR4_ENST00000370184.1_Missense_Mutation_p.G541R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		699					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TCACCACCACGGAATTACCAC	0.527																																						dbGAP											0			1											72	63	66					1																	99772369		2203	4300	6503	99544957	SO:0001583	missense	0																														ENST00000370185.3:c.2095G>A	1.37:g.99772369G>A	ENSP00000359204:p.Gly699Arg	82	6.82	6					99544957	159	25.12	54	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase	p.G699R	ENST00000370185.3	37	c.2095	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342162	0.61073	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.25085	2.39;2.36;1.82	6.02	6.02	0.97574	.	0.477070	0.23165	N	0.051184	T	0.28433	0.0703	L	0.29908	0.895	0.47153	D	0.999339	D;D	0.69078	0.997;0.99	P;P	0.59948	0.866;0.587	T	0.00666	-1.1619	9	.	.	.	-13.5534	20.5407	0.99260	0.0:0.0:1.0:0.0	.	641;699	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	699;641;541	ENSP00000359204:G699R;ENSP00000394913:G641R;ENSP00000359203:G541R	.	G	+	1	0	RP4-788L13.1	99544957	1.000000	0.71417	0.419000	0.26584	0.951000	0.60555	4.313000	0.59160	2.865000	0.98341	0.655000	0.94253	GGA	-	NULL		0.527	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	protein_coding	OTTHUMT00000029670.2	G			99544957	1	no_errors	NM_014839.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	99772369	G	A	99772369	3	1	106	1	0	0	0	0	1	0	0	0	8927	1117	39	1	2121	1	LPPR4	1	99772369	Missense_Mutation	SNP	G	TCGA-AB-2914-03A-01W-0732-08		99772369	149478252	1	1169											
HIST3H3	8290	genome.wustl.edu	37	1	228612763	228612763	+	Silent	SNP	C	C	T			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr1:228612763C>T	ENST00000366696.1	-	1	263	c.264G>A	c.(262-264)tcG>tcA	p.S88S		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	88					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CCATCACGGCCGAGCTCTGGA	0.592																																						dbGAP											0			1											92	87	89					1																	228612763		2203	4300	6503	226679386	SO:0001819	synonymous_variant	0			Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"Histones / Replication-dependent"	4778	protein-coding gene	gene with protein product		602820	"H3 histone family, member T", "histone 3, H3"	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.264G>A	1.37:g.228612763C>T		43	0	0		1	0	0	226679386	84	22.94	25	B2R5K3|Q6FGU4	Silent	SNP	HMMSmart_SM00428,PatternScan_HISTONE_H3_1,HMMPfam_Histone,superfamily_Histone-fold	p.S88	ENST00000366696.1	37	c.264	CCDS1572.1	1																																																																																			-	HMMSmart_SM00428,HMMPfam_Histone,superfamily_Histone-fold		0.592	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H3	protein_coding	OTTHUMT00000096595.2	C	NM_003493		226679386	-1	no_errors	NM_003493.2	genbank	human	reviewed	54_36p	silent	SNP	0.986	T	T	228612763	C	T	228612763	2	4	106	1	0	0	0	0	0	0	0	1	7184	639	23	1		1	HIST3H3	1	228612763	Silent	SNP	C	TCGA-AB-2914-03A-01W-0732-08	128840394	228612763	20637858	2	1170											
SYNGAP1	8831	genome.wustl.edu	37	6	33391288	33391288	+	Silent	SNP	C	C	T	rs147913000	byFrequency	TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr6:33391288C>T	ENST00000418600.2	+	2	203	c.102C>T	c.(100-102)taC>taT	p.Y34Y	SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Silent_p.Y34Y	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	34					dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAACCCAATACGTTCATTCCC	0.527																																						dbGAP											0			6						C		5,4401	9.9+/-24.2	0,5,2198	258	224	235		102	1.9	1	6	dbSNP_134	235	0,8600		0,0,4300	no	coding-synonymous	SYNGAP1	NM_006772.2		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		34/1344	33391288	5,13001	2203	4300	6503	33499266	SO:0001819	synonymous_variant	0			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"synaptic Ras GTPase activating protein 1 homolog (rat)"			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.102C>T	6.37:g.33391288C>T		67	10.67	8		1	0	0	33499266	73	43.85	57	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Silent	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00233,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_PH domain-like	p.Y19	ENST00000418600.2	37	c.57	CCDS34434.2	6																																																																																			-	HMMSmart_SM00233		0.527	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	C	XM_166407		33499266	1	no_errors	NM_006772.2	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	33391288	C	T	33391288	2	4	106	1	0	0	0	0	0	0	0	1	15444	547	19	1		1	SYNGAP1	6	33391288	Silent	SNP	C	TCGA-AB-2914-03A-01W-0732-08		33391288	137723779	3	1171											
GRB10	2887	genome.wustl.edu	37	7	50674041	50674041	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr7:50674041G>A	ENST00000401949.1	-	14	1734	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	GRB10_ENST00000402578.1_Missense_Mutation_p.T364M|GRB10_ENST00000357271.5_Missense_Mutation_p.T376M|GRB10_ENST00000402497.1_Missense_Mutation_p.T364M|GRB10_ENST00000439599.1_Missense_Mutation_p.T416M|GRB10_ENST00000335866.3_Missense_Mutation_p.T364M|GRB10_ENST00000407526.1_Missense_Mutation_p.T364M|GRB10_ENST00000398810.2_Missense_Mutation_p.T364M|GRB10_ENST00000406641.1_Missense_Mutation_p.T364M|GRB10_ENST00000398812.2_Missense_Mutation_p.T422M|GRB10_ENST00000403097.1_Missense_Mutation_p.T416M			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	422					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.T422M(1)|p.T416M(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TACCACTGGCGTCGAGAACGG	0.517									Russell-Silver syndrome																													dbGAP											2	Substitution - Missense(2)	endometrium(2)	7											106	110	109					7																	50674041		1975	4150	6125	50641535	SO:0001583	missense	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1265C>T	7.37:g.50674041G>A	ENSP00000385770:p.Thr422Met	84	5.62	5		15	42.31	11	50641535	131	40.81	91	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_SM00314,HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_BPS,superfamily_PH domain-like,superfamily_SH2 domain	p.T422M	ENST00000401949.1	37	c.1265	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620564	0.28801	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000402497	D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.54;-1.54;-1.68;-1.68;-1.68;-1.54;-1.68;-1.53;-1.68;-1.54;-1.68	5.34	5.34	0.76211	.	0.201005	0.52532	D	0.000063	T	0.78259	0.4255	L	0.31926	0.97	0.31484	N	0.666761	B;B;B	0.29270	0.24;0.24;0.049	B;B;B	0.29440	0.063;0.102;0.018	T	0.79266	-0.1874	10	0.56958	D	0.05	-6.8663	19.0286	0.92946	0.0:0.0:1.0:0.0	.	416;376;422	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	M	422;416;364;364;364;416;364;376;364;422;364	ENSP00000381793:T422M;ENSP00000406716:T416M;ENSP00000338543:T364M;ENSP00000381790:T364M;ENSP00000385189:T364M;ENSP00000385544:T416M;ENSP00000385366:T364M;ENSP00000349818:T376M;ENSP00000385046:T364M;ENSP00000385770:T422M;ENSP00000385748:T364M	ENSP00000338543:T364M	T	-	2	0	GRB10	50641535	0.991000	0.36638	0.009000	0.14445	0.042000	0.13812	6.235000	0.72332	2.463000	0.83235	0.655000	0.94253	ACG	-	NULL		0.517	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	protein_coding	OTTHUMT00000319157.1	G			50641535	-1	no_errors	NM_005311.2	genbank	human	reviewed	54_36p	missense	SNP	0.292	A	A	50674041	G	A	50674041	3	1	106	1	0	0	0	0	1	0	0	0	6756	1145	40	1	543	1	GRB10	7	50674041	Missense_Mutation	SNP	G	TCGA-AB-2914-03A-01W-0732-08		50674041	108464622	4	1172											
DLC1	10395	genome.wustl.edu	37	8	13357421	13357421	+	Missense_Mutation	SNP	G	G	A	rs368389913		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr8:13357421G>A	ENST00000276297.4	-	2	569	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	DLC1_ENST00000511869.1_Missense_Mutation_p.R54C|DLC1_ENST00000316609.5_Missense_Mutation_p.R54C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	54					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R54C(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTCTCTTTGCGGTCCACATTT	0.453													G|||	1	0.000199681	0	0	5008	,	,		20297	0		0.001	False		,,,				2504	0					dbGAP											3	Substitution - Missense(3)	endometrium(3)	8						G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	238	248	244		160,160	3.7	1	8		244	1,8599		0,1,4299	no	missense,missense	DLC1	NM_024767.3,NM_182643.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	54/464,54/1529	13357421	1,13005	2203	4300	6503	13401792	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.160C>T	8.37:g.13357421G>A	ENSP00000276297:p.Arg54Cys	100	1.96	2					13401792	144	42.91	109	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like	p.R54C	ENST00000276297.4	37	c.160	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968782	0.53614	0.0	1.16E-4	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.43688	0.94;0.94;0.94	5.53	3.72	0.42706	.	0.361089	0.20507	N	0.090965	T	0.47469	0.1447	L	0.43923	1.385	0.32445	N	0.546189	B;D;D	0.71674	0.139;0.998;0.978	B;P;B	0.56700	0.018;0.804;0.425	T	0.59402	-0.7461	10	0.66056	D	0.02	.	10.1016	0.42509	0.2117:0.0:0.7883:0.0	.	54;54;54	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	C	54	ENSP00000276297:R54C;ENSP00000321034:R54C;ENSP00000425878:R54C	ENSP00000276297:R54C	R	-	1	0	DLC1	13401792	1.000000	0.71417	0.999000	0.59377	0.405000	0.30901	2.818000	0.48041	1.486000	0.48398	0.655000	0.94253	CGC	-	NULL		0.453	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		13401792	-1	no_errors	NM_182643.3	genbank	human	reviewed	54_36p	missense	SNP	0.992	A	A	13357421	G	A	13357421	3	1	106	1	0	0	0	0	1	0	0	0	4550	1116	39	1	4579	1	DLC1	8	13357421	Missense_Mutation	SNP	G	TCGA-AB-2914-03A-01W-0732-08		13357421	133006601	5	1173											
SORCS3	22986	genome.wustl.edu	37	10	106802834	106802834	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr10:106802834G>C	ENST00000369701.3	+	5	1203	c.976G>C	c.(976-978)Gga>Cga	p.G326R		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	326					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CATGGACTTTGGAAGACGGTG	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)	dbGAP											0			10											223	201	208					10																	106802834		2203	4300	6503	106792824	SO:0001583	missense	0			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.976G>C	10.37:g.106802834G>C	ENSP00000358715:p.Gly326Arg	102	3.77	4					106792824	118	48.26	111	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	HMMPfam_PKD,superfamily_PKD,HMMSmart_VPS10,superfamily_SSF110296	p.G326R	ENST00000369701.3	37	c.976	CCDS7558.1	10	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560380	0.86335	.	.	ENSG00000156395	ENST00000369701	D	0.87256	-2.23	5.64	5.64	0.86602	VPS10 (1);	0.000000	0.85682	D	0.000000	D	0.93887	0.8044	M	0.83012	2.62	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	D	0.94221	0.7467	10	0.87932	D	0	.	16.9987	0.86376	0.0:0.0:1.0:0.0	.	326	Q9UPU3	SORC3_HUMAN	R	326	ENSP00000358715:G326R	ENSP00000358715:G326R	G	+	1	0	SORCS3	106792824	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.944000	0.75940	2.823000	0.97156	0.643000	0.83706	GGA	-	HMMSmart_VPS10,superfamily_SSF110296		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	protein_coding	OTTHUMT00000050221.1	G	NM_014978		106792824	1	no_errors	NM_014978.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	106802834	G	C	106802834	3	2	106	1	0	0	0	0	1	0	0	0	14932	1349	47	4	994	4	SORCS3	10	106802834	Missense_Mutation	SNP	G	TCGA-AB-2914-03A-01W-0732-08		106802834	28731913	6	1174											
OR52D1	390066	genome.wustl.edu	37	11	5510840	5510840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr11:5510840G>T	ENST00000322641.5	+	1	926	c.904G>T	c.(904-906)Gag>Tag	p.E302*	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	302					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGAACCAAGGAGATTCGGAG	0.448																																						dbGAP											0			11											79	74	75					11																	5510840		2201	4297	6498	5467416	SO:0001587	stop_gained	0			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"GPCR / Class A : Olfactory receptors"	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.904G>T	11.37:g.5510840G>T	ENSP00000326232:p.Glu302*	98	1.01	1					5467416	220	22.57	65	B9EGY9|Q6IFI6	Nonsense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.E302*	ENST00000322641.5	37	c.904	CCDS31384.1	11	.	.	.	.	.	.	.	.	.	.	G	13.53	2.265428	0.40095	.	.	ENSG00000181609	ENST00000322641	.	.	.	5.58	1.41	0.22369	.	0.184267	0.38058	N	0.001835	.	.	.	.	.	.	0.44432	D	0.997359	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.0608	0.59005	0.0638:0.4309:0.5053:0.0	.	.	.	.	X	302	.	ENSP00000326232:E302X	E	+	1	0	OR52D1	5467416	1.000000	0.71417	0.449000	0.26957	0.284000	0.27059	1.813000	0.38962	0.151000	0.19162	-0.795000	0.03280	GAG	-	superfamily_Family A G protein-coupled receptor-like		0.448	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52D1	protein_coding	OTTHUMT00000143372.1	G	NM_001005163		5467416	1	no_errors	NM_001005163.1	genbank	human	provisional	54_36p	nonsense	SNP	0.986	T	T	5510840	G	T	5510840	4	4	106	1	0	0	0	0	0	1	0	0	11114	1175	41	4	906	4	OR52D1	11	5510840	Nonsense_Mutation	SNP	G	TCGA-AB-2914-03A-01W-0732-08		5510840	129495676	7	1175											
PTPRJ	5795	genome.wustl.edu	37	11	48158724	48158724	+	Silent	SNP	C	C	T	rs140686417		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr11:48158724C>T	ENST00000418331.2	+	10	2395	c.2043C>T	c.(2041-2043)gaC>gaT	p.D681D		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	681	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAATTACTGACGCTACAGTCA	0.478													C|||	1	0.000199681	8e-04	0	5008	,	,		22775	0		0	False		,,,				2504	0					dbGAP											0			11											170	157	161					11																	48158724		2201	4298	6499	48115300	SO:0001819	synonymous_variant	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"CD molecules", "Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Fibronectin type III domain containing"	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2043C>T	11.37:g.48158724C>T		55	1.79	1		22	29.03	9	48115300	108	42.55	80	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	HMMPfam_Y_phosphatase,HMMSmart_PTPc,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,PatternScan_TYR_PHOSPHATASE_1,superfamily_SSF52799	p.D681	ENST00000418331.2	37	c.2043	CCDS7945.1	11																																																																																			-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.478	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	protein_coding	OTTHUMT00000390525.1	C			48115300	1	no_errors	NM_002843.1	genbank	human	reviewed	54_36p	silent	SNP	0.000	T	T	48158724	C	T	48158724	2	4	106	1	0	0	0	0	0	0	0	1	12804	535	19	1		1	PTPRJ	11	48158724	Silent	SNP	C	TCGA-AB-2914-03A-01W-0732-08	42647884	48158724	86847792	8	1176											
DRD2	1813	genome.wustl.edu	37	11	113287658	113287658	+	Silent	SNP	G	G	A	rs202047707		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr11:113287658G>A	ENST00000362072.3	-	4	803	c.459C>T	c.(457-459)acC>acT	p.T153T	DRD2_ENST00000355319.2_Silent_p.T153T|DRD2_ENST00000538967.1_Silent_p.T153T|DRD2_ENST00000544518.1_Silent_p.T152T|DRD2_ENST00000346454.3_Silent_p.T153T|DRD2_ENST00000535984.1_Intron|DRD2_ENST00000542968.1_Silent_p.T153T	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	153					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGATCATGACGGTGACCCGGC	0.582																																						dbGAP											0			11											145	112	123					11																	113287658		2201	4296	6497	112792868	SO:0001819	synonymous_variant	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.459C>T	11.37:g.113287658G>A		150	5.06	8					112792868	188	27.76	73	Q9NZR3|Q9UPA9	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.T153	ENST00000362072.3	37	c.459	CCDS8361.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.582	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795		112792868	-1	no_errors	NM_000795.3	genbank	human	reviewed	54_36p	silent	SNP	0.950	A	A	113287658	G	A	113287658	2	1	106	1	0	0	0	0	0	0	0	1	4757	1103	39	1		1	DRD2	11	113287658	Silent	SNP	G	TCGA-AB-2914-03A-01W-0732-08	65128934	113287658	21718858	9	1177											
CBL	867	genome.wustl.edu	37	11	119148875	119148875	+	Splice_Site	SNP	G	G	C	rs397517077|rs397517076		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr11:119148875G>C	ENST00000264033.4	+	8	1471		c.e8-1			NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase						cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(3)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TTTAATCAAAGGAACAATATG	0.299			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													dbGAP		"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	11											39	39	39					11																	119148875		2199	4295	6494	118654085	SO:0001630	splice_region_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1096-1G>C	11.37:g.119148875G>C		95	2.06	2		1	96.55	28	118654085	168	19.91	43	A3KMP8	Splice_Site	SNP	-	e8-1	ENST00000264033.4	37	c.1096-1	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	G	25.0	4.594099	0.86953	.	.	ENSG00000110395	ENST00000264033	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CBL	118654085	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.420000	0.97426	2.827000	0.97445	0.650000	0.86243	.	-	-		0.299	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	protein_coding	OTTHUMT00000388219.4	G	NM_005188	Intron	118654085	1	no_errors	NM_005188.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	C	C	119148875	G	C	119148875	5	2	106	1	0	0	0	0	0	0	1	0	2700	1014	35	4	1125	4	CBL	11	119148875	Splice_Site	SNP	G	TCGA-AB-2914-03A-01W-0732-08	5861217	119148875	15857641	10	1178											
ZFC3H1	196441	genome.wustl.edu	37	12	72030356	72030356	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr12:72030356T>C	ENST00000378743.3	-	9	2372	c.2014A>G	c.(2014-2016)Ata>Gta	p.I672V	SNORA17_ENST00000391159.1_RNA	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	672					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATACTGACTATTGATAGATTG	0.418																																						dbGAP											0			12											163	153	156					12																	72030356		1882	4117	5999	70316623	SO:0001583	missense	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"Zinc finger, C3H1-type containing"	28328	protein-coding gene	gene with protein product			"proline/serine-rich coiled-coil 2", "coiled-coil domain containing 131"	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.2014A>G	12.37:g.72030356T>C	ENSP00000368017:p.Ile672Val	110	0.9	1		36	21.74	10	70316623	122	22.15	35	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	HMMSmart_SM00386,HMMPfam_zf-C3H1,superfamily_Protein prenylyltransferase	p.I672V	ENST00000378743.3	37	c.2014	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886595	0.33348	.	.	ENSG00000133858	ENST00000378743	T	0.46819	0.86	5.16	5.16	0.70880	.	0.319446	0.29307	N	0.012525	T	0.25494	0.0620	N	0.14661	0.345	0.80722	D	1	B	0.18461	0.028	B	0.14578	0.011	T	0.15350	-1.0440	10	0.30078	T	0.28	.	3.5414	0.07812	0.1905:0.1254:0.0:0.684	.	672	O60293	ZC3H1_HUMAN	V	672	ENSP00000368017:I672V	ENSP00000368017:I672V	I	-	1	0	ZFC3H1	70316623	0.984000	0.35163	0.998000	0.56505	0.965000	0.64279	2.083000	0.41615	1.943000	0.56356	0.383000	0.25322	ATA	-	NULL		0.418	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	protein_coding	OTTHUMT00000404751.1	T	NM_144982		70316623	-1	no_errors	NM_144982.4	genbank	human	validated	54_36p	missense	SNP	0.832	C	C	72030356	T	C	72030356	3	2	106	1	0	0	0	0	1	0	0	0	17630	1493	52	3	4063	3	ZFC3H1	12	72030356	Missense_Mutation	SNP	T	TCGA-AB-2914-03A-01W-0732-08		72030356	61821539	11	1179											
PTPN11	5781	genome.wustl.edu	37	12	112888199	112888199	+	Missense_Mutation	SNP	C	C	T	rs121918454		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr12:112888199C>T	ENST00000351677.2	+	3	413	c.215C>T	c.(214-216)gCc>gTc	p.A72V	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72V	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		A -> G (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.|A -> S (in NS1). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870}.|A -> T (in JMML). {ECO:0000269|PubMed:12717436}.|A -> V (in JMML). {ECO:0000269|PubMed:12717436}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	38	Substitution - Missense(38)	haematopoietic_and_lymphoid_tissue(38)	12	GRCh37	CM013417	PTPN11	M	rs121918454						154	142	146					12																	112888199		2203	4300	6503	111372582	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.215C>T	12.37:g.112888199C>T	ENSP00000340944:p.Ala72Val	37	7.5	3		31	13.89	5	111372582	103	26.24	37	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.A72V	ENST00000351677.2	37	c.215	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.157169	0.94686	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.96716	-4.1;-4.1	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.97272	0.9108	M	0.75447	2.3	0.80722	D	1	D;D	0.64830	0.987;0.994	P;P	0.57371	0.725;0.819	D	0.97615	1.0132	10	0.87932	D	0	.	14.8021	0.69924	0.0:0.9312:0.0:0.0688	.	72;72	Q06124-2;Q06124-3	.;.	V	72	ENSP00000376376:A72V;ENSP00000340944:A72V	ENSP00000340944:A72V	A	+	2	0	PTPN11	111372582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.811000	0.86092	1.496000	0.48567	0.650000	0.86243	GCC	-	HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain		0.418	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	C			111372582	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	112888199	C	T	112888199	3	4	106	1	0	0	0	0	1	0	0	0	12780	739	26	2	225	2	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-AB-2914-03A-01W-0732-08	40857843	112888199	20963696	12	1180											
ISLR	3671	genome.wustl.edu	37	15	74467891	74467891	+	Missense_Mutation	SNP	C	C	T	rs543753338		TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr15:74467891C>T	ENST00000249842.3	+	2	1049	c.692C>T	c.(691-693)gCg>gTg	p.A231V	ISLR_ENST00000395118.1_Missense_Mutation_p.A231V|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	231	LRRCT.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CCATGCTCGGCGCCCTCAGTG	0.672																																						dbGAP											0			15											34	33	33					15																	74467891		2198	4294	6492	72254944	SO:0001583	missense	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"Immunoglobulin superfamily / I-set domain containing"	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.692C>T	15.37:g.74467891C>T	ENSP00000249842:p.Ala231Val	15	0	0					72254944	35	25.53	12		Missense_Mutation	SNP	HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726,superfamily_SSF52058	p.A231V	ENST00000249842.3	37	c.692	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	C	8.621	0.891344	0.17613	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.50277	0.75;0.75	4.21	4.21	0.49690	.	0.264459	0.24843	U	0.035159	T	0.37128	0.0992	L	0.60455	1.87	0.24134	N	0.995758	P	0.39352	0.669	B	0.27076	0.076	T	0.34650	-0.9820	10	0.33940	T	0.23	.	11.2368	0.48944	0.0:0.9098:0.0:0.0902	.	231	O14498	ISLR_HUMAN	V	231	ENSP00000249842:A231V;ENSP00000378550:A231V	ENSP00000249842:A231V	A	+	2	0	ISLR	72254944	0.807000	0.29009	0.123000	0.21794	0.087000	0.18053	3.701000	0.54793	1.902000	0.55061	0.313000	0.20887	GCG	-	superfamily_SSF48726,superfamily_SSF52058		0.672	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	protein_coding	OTTHUMT00000269044.1	C	NM_005545		72254944	1	no_errors	NM_005545.3	genbank	human	validated	54_36p	missense	SNP	0.299	T	T	74467891	C	T	74467891	3	4	106	1	0	0	0	0	1	0	0	0	7858	768	27	1	694	1	ISLR	15	74467891	Missense_Mutation	SNP	C	TCGA-AB-2914-03A-01W-0732-08		74467891	28063501	13	1181											
KIF1C	10749	genome.wustl.edu	37	17	4905792	4905792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr17:4905792C>T	ENST00000320785.5	+	7	820	c.463C>T	c.(463-465)Cga>Tga	p.R155*		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	155	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						TGAGCGGGTACGAGACCTCTT	0.522																																					Melanoma(96;1023 1447 10250 19259 33730)	dbGAP											0			17											169	174	172					17																	4905792		2203	4300	6503	4846516	SO:0001587	stop_gained	0			U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"Kinesins"	6317	protein-coding gene	gene with protein product		603060	"spastic ataxia 2 (autosomal recessive)"	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.463C>T	17.37:g.4905792C>T	ENSP00000320821:p.Arg155*	118	7.09	9		4	20	1	4846516	78	42.75	59	D3DTL6|O75186|Q5U618	Nonsense_Mutation	SNP	HMMPfam_FHA,HMMSmart_FHA,HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SMAD_FHA,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SSF52540	p.R155*	ENST00000320785.5	37	c.463	CCDS11065.1	17	.	.	.	.	.	.	.	.	.	.	C	38	7.171102	0.98111	.	.	ENSG00000129250	ENST00000320785	.	.	.	5.43	4.46	0.54185	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1562	0.54079	0.0:0.9163:0.0:0.0837	.	.	.	.	X	155	.	ENSP00000320821:R155X	R	+	1	2	KIF1C	4846516	0.974000	0.33945	1.000000	0.80357	0.997000	0.91878	1.634000	0.37123	1.448000	0.47680	0.561000	0.74099	CGA	-	HMMPfam_Kinesin,HMMSmart_KISc,superfamily_SSF52540		0.522	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1C	protein_coding	OTTHUMT00000216916.1	C			4846516	1	no_errors	NM_006612.4	genbank	human	provisional	54_36p	nonsense	SNP	0.997	T	T	4905792	C	T	4905792	4	4	106	1	0	0	0	0	0	1	0	0	8285	528	19	1	481	1	KIF1C	17	4905792	Nonsense_Mutation	SNP	C	TCGA-AB-2914-03A-01W-0732-08		4905792	76289418	14	1182											
KIAA1267	284058	genome.wustl.edu	37	17	44248614	44248615	+	Frame_Shift_Ins	INS	-	-	G	rs201785695	byFrequency	TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr17:44248614_44248615insG	ENST00000262419.6	-	2	1365_1366	c.895_896insC	c.(895-897)cgcfs	p.R299fs	KANSL1_ENST00000576248.1_5'Flank|KANSL1_ENST00000432791.1_Frame_Shift_Ins_p.R299fs|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Frame_Shift_Ins_p.R299fs|KANSL1_ENST00000572904.1_Frame_Shift_Ins_p.R299fs|KANSL1_ENST00000575318.1_Frame_Shift_Ins_p.R299fs	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	299					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											TTGTAATCTGCGGGCACGGCTC	0.465																																						dbGAP											0			17																																								41604392	SO:0001589	frameshift_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.896dupC	17.37:g.44248617_44248617dupG	ENSP00000262419:p.Arg299fs	113	0	0		77	12.5	11	41604391	176	21.08	47	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Frame_Shift_Ins	INS	NULL	p.R299fs	ENST00000262419.6	37	c.896_895	CCDS11503.1	17																																																																																			-	NULL		0.465	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIAA1267	protein_coding	OTTHUMT00000440274.1	-	NM_015443		41604392	-1	no_errors	NM_015443.2	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	G	G	44248615	-	G	44248614	7	5	106	1	0	1	1	0	0	0	0	0	8219	768	27	0	2477	0	KIAA1267	17	44248614	Frame_Shift_Ins	INS	-	TCGA-AB-2914-03A-01W-0732-08	39342822	44248614	36946596	15	1183											
SERPINB4	6318	genome.wustl.edu	37	18	61305098	61305098	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr18:61305098G>A	ENST00000341074.5	-	8	1143	c.1028C>T	c.(1027-1029)gCt>gTt	p.A343V	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A291V	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	343					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GGCAGCTGCAGCTTCCACTCC	0.483																																						dbGAP											0			18											99	96	97					18																	61305098		2203	4300	6503	59456078	SO:0001583	missense	0			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"Serine (or cysteine) peptidase inhibitors"	10570	protein-coding gene	gene with protein product	"squamous cell carcinoma antigen 2"	600518	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1028C>T	18.37:g.61305098G>A	ENSP00000343445:p.Ala343Val	84	2.33	2					59456078	139	20.9	37	A8K847	Missense_Mutation	SNP	HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin	p.A343V	ENST00000341074.5	37	c.1028	CCDS11986.1	18	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713048	0.89112	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.86497	-2.13;-2.13	4.51	4.51	0.55191	Serpin domain (3);	0.000000	0.41396	D	0.000896	D	0.95626	0.8578	H	0.96175	3.78	0.46131	D	0.998885	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.976;0.955;0.996	D	0.97029	0.9749	10	0.87932	D	0	.	16.7417	0.85461	0.0:0.0:1.0:0.0	.	343;343;322	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	V	343;291	ENSP00000343445:A343V;ENSP00000348795:A291V	ENSP00000343445:A343V	A	-	2	0	SERPINB4	59456078	1.000000	0.71417	0.218000	0.23776	0.041000	0.13682	5.322000	0.65852	2.488000	0.83962	0.609000	0.83330	GCT	-	HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin		0.483	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB4	protein_coding	OTTHUMT00000133794.2	G	NM_175041		59456078	-1	no_errors	NM_002974.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	61305098	G	A	61305098	3	1	106	1	0	0	0	0	1	0	0	0	14103	971	34	2	148	2	SERPINB4	18	61305098	Missense_Mutation	SNP	G	TCGA-AB-2914-03A-01W-0732-08		61305098	16772150	16	1184											
THOC5	8563	genome.wustl.edu	37	22	29939470	29939470	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chr22:29939470A>C	ENST00000490103.1	-	4	424	c.302T>G	c.(301-303)cTt>cGt	p.L101R	THOC5_ENST00000397872.1_Missense_Mutation_p.L101R|THOC5_ENST00000397873.2_Missense_Mutation_p.L101R|THOC5_ENST00000397871.1_Missense_Mutation_p.L101R	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	101	Interaction with CSF1R. {ECO:0000250}.|Interaction with THOC7.				blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TAATCGGTTAAGCTTCTTTAG	0.448																																						dbGAP											0			22											176	172	173					22																	29939470		2203	4300	6503	28269470	SO:0001583	missense	0			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"THO complex subunits"	19074	protein-coding gene	gene with protein product	"functional spliceosome-associated protein 79"	612733	"chromosome 22 open reading frame 19"	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.302T>G	22.37:g.29939470A>C	ENSP00000420306:p.Leu101Arg	231	7.57	19		20	50	20	28269470	200	42.74	150	O60839|Q9UPZ5	Missense_Mutation	SNP	HMMPfam_FimP	p.L101R	ENST00000490103.1	37	c.302	CCDS13859.1	22	.	.	.	.	.	.	.	.	.	.	A	27.9	4.872986	0.91664	.	.	ENSG00000100296	ENST00000490103;ENST00000397872;ENST00000397871;ENST00000397873;ENST00000440771;ENST00000455450;ENST00000428374	T;T;T;T;T	0.52526	1.57;1.57;1.57;1.57;0.66	5.62	5.62	0.85841	.	0.062618	0.64402	D	0.000003	T	0.72471	0.3464	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.87578	0.904;0.998	T	0.77814	-0.2448	10	0.87932	D	0	-2.6193	15.8124	0.78576	1.0:0.0:0.0:0.0	.	101;101	F8WCP5;Q13769	.;THOC5_HUMAN	R	101;101;101;101;101;97;101	ENSP00000420306:L101R;ENSP00000380970:L101R;ENSP00000380969:L101R;ENSP00000380971:L101R;ENSP00000415425:L97R	ENSP00000444493:L101R	L	-	2	0	THOC5	28269470	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.944000	0.92980	2.138000	0.66242	0.455000	0.32223	CTT	-	HMMPfam_FimP		0.448	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	protein_coding	OTTHUMT00000322097.1	A	NM_003678		28269470	-1	no_errors	NM_001002877.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	29939470	A	C	29939470	3	2	106	1	0	0	0	0	1	0	0	0	15865	72	3	5	1817	5	THOC5	22	29939470	Missense_Mutation	SNP	A	TCGA-AB-2914-03A-01W-0732-08		29939470	21365096	17	1185											
LAS1L	81887	genome.wustl.edu	37	X	64749615	64749615	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2914-03A-01W-0732-08	TCGA-AB-2914-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2ae74530-0732-4031-bb63-3dbed2979f34	3c58db02-73a6-4c04-a358-121b95f364c2	g.chrX:64749615C>T	ENST00000374811.3	-	5	698	c.658G>A	c.(658-660)Gat>Aat	p.D220N	LAS1L_ENST00000312391.8_Missense_Mutation_p.D220N|LAS1L_ENST00000374804.5_Missense_Mutation_p.D178N|LAS1L_ENST00000374807.5_Missense_Mutation_p.D220N	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	220					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GTGATGTCATCAACAACAATG	0.502																																						dbGAP											0			X											256	213	228					X																	64749615		2203	4300	6503	64666340	SO:0001583	missense	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.658G>A	X.37:g.64749615C>T	ENSP00000363944:p.Asp220Asn	185	3.63	7		68	0	0	64666340	147	41.73	106	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	HMMPfam_Las1	p.D220N	ENST00000374811.3	37	c.658	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	10.98	1.505104	0.26949	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.47	4.61	0.57282	.	0.414969	0.22532	N	0.058821	T	0.35885	0.0947	L	0.51422	1.61	0.27023	N	0.964418	B;P;B	0.41848	0.01;0.763;0.011	B;B;B	0.39027	0.021;0.288;0.008	T	0.23261	-1.0193	9	0.39692	T	0.17	.	9.4493	0.38717	0.0:0.8994:0.0:0.1006	.	178;220;220	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	N	220;220;178;220	.	ENSP00000308649:D220N	D	-	1	0	LAS1L	64666340	0.872000	0.30054	0.182000	0.23118	0.009000	0.06853	1.460000	0.35244	1.191000	0.43056	-0.192000	0.12808	GAT	-	NULL		0.502	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	protein_coding	OTTHUMT00000056974.1	C	NM_031206		64666340	-1	no_errors	NM_031206.3	genbank	human	provisional	54_36p	missense	SNP	0.442	T	T	64749615	C	T	64749615	3	4	106	1	0	0	0	0	1	0	0	0	8636	826	29	2	1586	2	LAS1L	23	64749615	Missense_Mutation	SNP	C	TCGA-AB-2914-03A-01W-0732-08		64749615	90520945	18	1186											
ARHGEF10L	55160	genome.wustl.edu	37	1	17948359	17948359	+	Splice_Site	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr1:17948359G>A	ENST00000361221.3	+	11	1102	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	ARHGEF10L_ENST00000375408.3_Splice_Site_p.V93M|ARHGEF10L_ENST00000375415.1_Splice_Site_p.V276M|ARHGEF10L_ENST00000167825.4_Splice_Site_p.V93M|ARHGEF10L_ENST00000452522.1_Splice_Site_p.V276M|ARHGEF10L_ENST00000375420.3_Splice_Site_p.V73M|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Splice_Site_p.V315M	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	315						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCGAGCAGGTGGTCCGGAG	0.577																																						dbGAP											0			1											103	98	100					1																	17948359		2203	4300	6503	17820946	SO:0001630	splice_region_variant	0			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"Rho guanine nucleotide exchange factors"	25540	protein-coding gene	gene with protein product	"GrinchGEF"	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.943-1G>A	1.37:g.17948359G>A		36	0	0		11	42.11	8	17820946	91	40.38	63	B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),superfamily_WD40 repeat-like,superfamily_PH domain-like	p.V315M	ENST00000361221.3	37	c.943	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458294	0.84317	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47	5.09	5.09	0.68999	Dbl homology (DH) domain (2);	0.000000	0.64402	D	0.000001	T	0.51329	0.1668	L	0.55990	1.75	0.80722	D	1	D;P;D;D;D;D;D;D	0.76494	0.985;0.913;0.998;0.999;0.968;0.995;0.999;0.998	P;P;D;D;P;D;D;D	0.83275	0.866;0.726;0.974;0.996;0.823;0.952;0.975;0.945	T	0.45249	-0.9274	9	.	.	.	-28.7297	17.0479	0.86509	0.0:0.0:1.0:0.0	.	93;73;315;93;81;276;276;315	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	M	315;276;315;276;73;93;93;93	ENSP00000355060:V315M;ENSP00000399401:V276M;ENSP00000394621:V315M;ENSP00000364564:V276M;ENSP00000364569:V73M;ENSP00000364557:V93M;ENSP00000167825:V93M	.	V	+	1	0	ARHGEF10L	17820946	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	4.935000	0.63498	2.370000	0.80446	0.561000	0.74099	GTG	-	superfamily_DBL homology domain (DH-domain)		0.577	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	protein_coding	OTTHUMT00000007147.1	G	NM_018125	Missense_Mutation	17820946	1	no_errors	NM_018125.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	17948359	G	A	17948359	5	1	107	1	0	0	0	0	0	0	1	0	895	1275	44	2	981	2	ARHGEF10L	1	17948359	Splice_Site	SNP	G	TCGA-AB-2915-03A-01W-0745-08		17948359	231302262	1	1187											
FLG	2312	genome.wustl.edu	37	1	152278709	152278709	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr1:152278709T>A	ENST00000368799.1	-	3	8688	c.8653A>T	c.(8653-8655)Agg>Tgg	p.R2885W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2885	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGCGCCTGCTTCTCCTG	0.567									Ichthyosis																													dbGAP											0			1											99	159	139					1																	152278709		2059	4278	6337	150545333	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8653A>T	1.37:g.152278709T>A	ENSP00000357789:p.Arg2885Trp	15	0	0					150545333	85	27.5	33	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473	p.R2885W	ENST00000368799.1	37	c.8653	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.521988	0.27211	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.04454	3.62	3.61	-0.395	0.12431	.	.	.	.	.	T	0.05227	0.0139	M	0.72118	2.19	0.09310	N	1	D	0.56968	0.978	P	0.60068	0.868	T	0.28235	-1.0050	9	0.72032	D	0.01	.	2.1257	0.03738	0.2339:0.277:0.0:0.4891	.	2885	P20930	FILA_HUMAN	W	2885;147	ENSP00000357789:R2885W	ENSP00000357786:R147W	R	-	1	2	FLG	150545333	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.187000	0.09656	0.390000	0.25115	0.254000	0.18369	AGG	-	HMMPfam_Filaggrin		0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	T	NM_002016		150545333	-1	no_errors	NM_002016.1	genbank	human	provisional	54_36p	missense	SNP	0.000	A	A	152278709	T	A	152278709	3	1	107	1	0	0	0	0	1	0	0	0	5922	1579	55	5	3536	5	FLG	1	152278709	Missense_Mutation	SNP	T	TCGA-AB-2915-03A-01W-0745-08	134330350	152278709	96971912	2	1188											
ZNF648	127665	genome.wustl.edu	37	1	182027086	182027086	+	Silent	SNP	A	A	C			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr1:182027086A>C	ENST00000339948.3	-	2	267	c.60T>G	c.(58-60)acT>acG	p.T20T		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GAGCTTCCTCAGTCAAGCTGC	0.572																																					NSCLC(71;908 1374 5429 20458 35642)	dbGAP											0			1											83	73	76					1																	182027086		2203	4300	6503	180293709	SO:0001819	synonymous_variant	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"Zinc fingers, C2H2-type"	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.60T>G	1.37:g.182027086A>C		51	1.92	1		0	0	0	180293709	93	56.28	121	B2RP16	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.T20	ENST00000339948.3	37	c.60	CCDS30952.1	1																																																																																			-	NULL		0.572	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	protein_coding	OTTHUMT00000090794.1	A	XM_060597		180293709	-1	no_errors	NM_001009992.1	genbank	human	provisional	54_36p	silent	SNP	0.151	C	C	182027086	A	C	182027086	2	2	107	1	0	0	0	0	0	0	0	1	18060	175	7	5		5	ZNF648	1	182027086	Silent	SNP	A	TCGA-AB-2915-03A-01W-0745-08	29748377	182027086	67223535	3	1189											
WDR35	57539	genome.wustl.edu	37	2	20153619	20153619	+	Missense_Mutation	SNP	C	C	T	rs146380332		TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr2:20153619C>T	ENST00000345530.3	-	13	1524	c.1409G>A	c.(1408-1410)cGg>cAg	p.R470Q	WDR35_ENST00000281405.4_Missense_Mutation_p.R459Q|WDR35_ENST00000416055.2_Missense_Mutation_p.R35Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	470					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)		p.R470L(2)|p.R470Q(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTTCGAGACCGTGTGATCTG	0.378																																						dbGAP											3	Substitution - Missense(3)	lung(2)|kidney(1)	2						C	GLN/ARG,GLN/ARG	0,4406		0,0,2203	222	209	213		1409,1376	5.7	1	2	dbSNP_134	213	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	WDR35	NM_001006657.1,NM_020779.3	43,43	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	470/1182,459/1171	20153619	2,13004	2203	4300	6503	20017100	SO:0001583	missense	0			AB037757	CCDS1695.1, CCDS33152.1	2p24.3	2014-02-21			ENSG00000118965	ENSG00000118965		"WD repeat domain containing", "Intraflagellar transport homologs"	29250	protein-coding gene	gene with protein product		613602				10718198	Standard	NM_001006657		Approved	MGC33196, KIAA1336, IFT121, IFTA1	uc002rdi.3	Q9P2L0	OTTHUMG00000090737	ENST00000345530.3:c.1409G>A	2.37:g.20153619C>T	ENSP00000314444:p.Arg470Gln	71	2.74	2		13	0	0	20017100	179	45.62	151	B3KVI5|Q4ZG01|Q8NE11	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.R470Q	ENST00000345530.3	37	c.1409	CCDS33152.1	2	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124998	0.56721	0.0	2.33E-4	ENSG00000118965	ENST00000345530;ENST00000281405;ENST00000416055;ENST00000453014	D;D;D;D	0.95412	-3.7;-3.7;-3.7;-2.06	5.65	5.65	0.86999	.	0.111526	0.64402	D	0.000018	D	0.88894	0.6561	N	0.16790	0.44	0.49213	D	0.999761	P;P;B;B	0.40681	0.467;0.727;0.045;0.108	B;B;B;B	0.26693	0.05;0.072;0.007;0.014	D	0.88505	0.3085	10	0.25751	T	0.34	-9.7278	18.7155	0.91673	0.0:1.0:0.0:0.0	.	470;459;470;35	F8WB94;Q9P2L0-2;Q9P2L0;B3KR94	.;.;WDR35_HUMAN;.	Q	470;459;35;5	ENSP00000314444:R470Q;ENSP00000281405:R459Q;ENSP00000399159:R35Q;ENSP00000404409:R5Q	ENSP00000281405:R459Q	R	-	2	0	WDR35	20017100	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	4.648000	0.61425	2.672000	0.90937	0.561000	0.74099	CGG	-	superfamily_WD40 repeat-like		0.378	WDR35-001	KNOWN	basic|CCDS	protein_coding	WDR35	protein_coding	OTTHUMT00000207472.2	C	NM_020779		20017100	-1	no_errors	NM_001006657.1	genbank	human	reviewed	54_36p	missense	SNP	0.996	T	T	20153619	C	T	20153619	3	4	107	1	0	0	0	0	1	0	0	0	17286	652	23	1	2200	1	WDR35	2	20153619	Missense_Mutation	SNP	C	TCGA-AB-2915-03A-01W-0745-08		20153619	223045754	4	1190											
VWA3B	200403	genome.wustl.edu	37	2	98810951	98810952	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr2:98810951_98810952insA	ENST00000477737.1	+	12	1937_1938	c.1733_1734insA	c.(1732-1737)ataaagfs	p.IK578fs	VWA3B_ENST00000451075.2_Frame_Shift_Ins_p.IK428fs|VWA3B_ENST00000435344.1_Frame_Shift_Ins_p.IK578fs	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	578	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTAGAGACATAAAGGTAAGTT	0.446																																						dbGAP											0			2																																								98177384	SO:0001589	frameshift_variant	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1736dupA	2.37:g.98810954_98810954dupA	ENSP00000417955:p.Ile578fs	68	0	0		0	0	0	98177383	168	34.88	90	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Frame_Shift_Ins	INS	HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like	p.I580fs	ENST00000477737.1	37	c.1733_1734	CCDS42718.1	2																																																																																			-	HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like		0.446	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	protein_coding	OTTHUMT00000353469.2	-	NM_144992		98177384	1	no_errors	NM_144992.4	genbank	human	provisional	54_36p	frame_shift_ins	INS	0.454:0.255	A	A	98810952	-	A	98810951	7	5	107	1	0	1	1	0	0	0	0	0	17238	1406	49	0	1775	0	VWA3B	2	98810951	Frame_Shift_Ins	INS	-	TCGA-AB-2915-03A-01W-0745-08	78657332	98810951	144388422	5	1191											
MAP2	4133	genome.wustl.edu	37	2	210561004	210561004	+	Silent	SNP	C	C	T	rs147926728		TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr2:210561004C>T	ENST00000360351.4	+	7	4616	c.4110C>T	c.(4108-4110)gaC>gaT	p.D1370D	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.D1366D	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1370					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.D1370D(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AAACCTATGACGATTACAAAG	0.458																																					Pancreas(27;423 979 28787 29963)	dbGAP											1	Substitution - coding silent(1)	kidney(1)	2						T	,,,	2,4404	4.2+/-10.8	0,2,2201	73	84	80		,4110,,	-10.5	0.1	2	dbSNP_134	80	0,8600		0,0,4300	no	intron,coding-synonymous,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,,,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,,,	,1370/1828,,	210561004	2,13004	2203	4300	6503	210269249	SO:0001819	synonymous_variant	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4110C>T	2.37:g.210561004C>T		73	0	0					210269249	109	43.88	86	Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1	p.D1370	ENST00000360351.4	37	c.4110	CCDS2384.1	2																																																																																			-	HMMPfam_MAP2_projctn		0.458	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	C	NM_001039538		210269249	1	no_errors	NM_002374.1	genbank	human	reviewed	54_36p	silent	SNP	0.697	T	T	210561004	C	T	210561004	2	4	107	1	0	0	0	0	0	0	0	1	9235	535	19	1		1	MAP2	2	210561004	Silent	SNP	C	TCGA-AB-2915-03A-01W-0745-08	111750053	210561004	32638369	6	1192											
C3orf67	200844	genome.wustl.edu	37	3	58792122	58792122	+	Splice_Site	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr3:58792122G>A	ENST00000482387.1	-	11	1957	c.1861C>T	c.(1861-1863)Cgg>Tgg	p.R621W	C3orf67_ENST00000295966.7_Splice_Site_p.R495W			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	621										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GATTCTTACCGGGGATTAGAA	0.338																																						dbGAP											0			3											127	125	126					3																	58792122		2203	4300	6503	58767162	SO:0001630	splice_region_variant	0			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.1862+1C>T	3.37:g.58792122G>A		49	5.66	3					58767162	183	39.81	123	B9EKV6|Q6ZV69	Missense_Mutation	SNP	NULL	p.R495W	ENST00000482387.1	37	c.1483		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.43|16.43	3.121766|3.121766	0.56613|0.56613	.|.	.|.	ENSG00000163689|ENSG00000163689	ENST00000486145|ENST00000295966;ENST00000482387	.|T;T	.|0.61742	.|0.36;0.08	5.22|5.22	0.736|0.736	0.18307|0.18307	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.71634|0.71634	0.3363|0.3363	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|P;D	.|0.97110	.|0.882;1.0	T|T	0.73569|0.73569	-0.3941|-0.3941	6|10	0.72032|0.87932	D|D	0.01|0	-10.4692|-10.4692	12.6623|12.6623	0.56822|0.56822	0.0:0.0:0.3918:0.6082|0.0:0.0:0.3918:0.6082	.|.	.|495;621	.|Q6ZVT6-2;Q6ZVT6	.|.;CC067_HUMAN	L|W	34|495;621	.|ENSP00000295966:R495W;ENSP00000417122:R621W	ENSP00000421046:P34L|ENSP00000295966:R495W	P|R	-|-	2|1	0|2	C3orf67|C3orf67	58767162|58767162	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.691000|0.691000	0.40173|0.40173	0.475000|0.475000	0.22164|0.22164	0.201000|0.201000	0.20466|0.20466	0.591000|0.591000	0.81541|0.81541	CCG|CGG	-	NULL		0.338	C3orf67-003	KNOWN	basic	protein_coding	C3orf67	protein_coding	OTTHUMT00000353803.1	G	NM_198463	Missense_Mutation	58767162	-1	no_errors	NM_198463.2	genbank	human	predicted	54_36p	missense	SNP	0.973	A	A	58792122	G	A	58792122	5	1	107	1	0	0	0	0	0	0	1	0	2241	1130	39	1	220	1	C3orf67	3	58792122	Splice_Site	SNP	G	TCGA-AB-2915-03A-01W-0745-08		58792122	139230308	7	1193											
TXNDC6	347736	genome.wustl.edu	37	3	138037001	138037001	+	Silent	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr3:138037001G>A	ENST00000333911.3	-	4	283	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	NME9_ENST00000484930.1_Intron|NME9_ENST00000383180.2_Silent_p.L64L|NME9_ENST00000536478.1_Silent_p.L64L|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Silent_p.L64L			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	86	Thioredoxin.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GCATAAAACAGAAAGGTTGGC	0.418																																						dbGAP											0			3											134	119	124					3																	138037001		2203	4300	6503	139519691	SO:0001819	synonymous_variant	0			AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"thioredoxin domain containing 6", "NME gene family member 9", "NME family member 9"	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.256C>T	3.37:g.138037001G>A		46	8	4					139519691	98	46.81	88	Q7Z4A8|Q8N1V7	Silent	SNP	HMMPfam_NDK,HMMSmart_NDK,superfamily_NDK,superfamily_Thiordxn-like_fd,PatternScan_THIOREDOXIN_1	p.L64	ENST00000333911.3	37	c.190		3	.	.	.	.	.	.	.	.	.	.	G	8.275	0.814285	0.16537	.	.	ENSG00000181322	ENST00000474690	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	T	0.71710	0.3372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71059	-0.4702	4	.	.	.	-11.74	15.9633	0.79948	0.0:0.0:1.0:0.0	.	.	.	.	F	55	.	.	S	-	2	0	TXNDC6	139519691	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.074000	0.76791	2.357000	0.79964	0.491000	0.48974	TCT	-	superfamily_Thiordxn-like_fd		0.418	NME9-003	KNOWN	basic|appris_principal	protein_coding	TXNDC6	protein_coding	OTTHUMT00000357583.1	G	NM_178130		139519691	-1	no_errors	NM_178130.2	genbank	human	provisional	54_36p	silent	SNP	1.000	A	A	138037001	G	A	138037001	2	1	107	1	0	0	0	0	0	0	0	1	16797	933	33	2		2	TXNDC6	3	138037001	Silent	SNP	G	TCGA-AB-2915-03A-01W-0745-08	79244879	138037001	59985429	8	1194											
GSTCD	79807	genome.wustl.edu	37	4	106638785	106638785	+	Silent	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr4:106638785G>A	ENST00000515279.1	+	2	235	c.15G>A	c.(13-15)aaG>aaA	p.K5K	GSTCD_ENST00000507281.1_Silent_p.K5K|GSTCD_ENST00000360505.5_Silent_p.K5K|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394730.3_Silent_p.K5K|GSTCD_ENST00000394728.3_Silent_p.K5K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	5						extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAGCCATAAAGAAAAGTCTTA	0.308																																						dbGAP											0			4											70	73	72					4																	106638785		2203	4300	6503	106858234	SO:0001819	synonymous_variant	0			BC032942	CCDS3672.2, CCDS43257.1	4q24	2008-02-05	2006-05-09		ENSG00000138780	ENSG00000138780			25806	protein-coding gene	gene with protein product		615912	"Glutathione S-transferase, C-terminal domain containing"			12477932	Standard	NM_001031720		Approved	FLJ13273	uc003hxz.4	Q8NEC7	OTTHUMG00000131211	ENST00000515279.1:c.15G>A	4.37:g.106638785G>A		75	8.54	7		6	0	0	106858234	115	35.56	64	A8K8J0|A8MVD3|H9KV97|Q9H8S3	Silent	SNP	superfamily_Glutathione S-transferase (GST) C-terminal domain,superfamily_S-adenosyl-L-methionine-dependent methyltransferases	p.K5	ENST00000515279.1	37	c.15	CCDS43257.1	4																																																																																			-	NULL		0.308	GSTCD-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSTCD	protein_coding	OTTHUMT00000363981.1	G	NM_024751		106858234	1	no_errors	NM_001031720.2	genbank	human	validated	54_36p	silent	SNP	0.511	A	A	106638785	G	A	106638785	2	1	107	1	0	0	0	0	0	0	0	1	6835	933	33	2		2	GSTCD	4	106638785	Silent	SNP	G	TCGA-AB-2915-03A-01W-0745-08		106638785	84515491	9	1195											
NAA15	80155	genome.wustl.edu	37	4	140270697	140270697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr4:140270697G>A	ENST00000296543.5	+	7	1096	c.773G>A	c.(772-774)tGg>tAg	p.W258*	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Nonsense_Mutation_p.W258*	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	258					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTGAAAACTGGGCCTATTAC	0.328																																						dbGAP											0			4											48	45	46					4																	140270697		1799	4076	5875	140490147	SO:0001587	stop_gained	0			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"N(alpha)-acetyltransferase subunits"	30782	protein-coding gene	gene with protein product		608000	"NMDA receptor regulated 1"	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.773G>A	4.37:g.140270697G>A	ENSP00000296543:p.Trp258*	64	9.86	7		24	17.24	5	140490147	159	40.81	111	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Nonsense_Mutation	SNP	HMMPfam_TPR_2,HMMSmart_SM00028,superfamily_TPR-like	p.W258*	ENST00000296543.5	37	c.773	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.650790	0.98412	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	.	.	.	5.44	5.44	0.79542	.	0.064891	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-7.0255	19.4586	0.94906	0.0:0.0:1.0:0.0	.	.	.	.	X	258;132;258	.	ENSP00000296543:W258X	W	+	2	0	NAA15	140490147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.828000	0.97474	0.655000	0.94253	TGG	-	superfamily_TPR-like		0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NARG1	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140490147	1	no_errors	NM_057175.3	genbank	human	validated	54_36p	nonsense	SNP	1.000	A	A	140270697	G	A	140270697	4	1	107	1	0	0	0	0	0	1	0	0	10118	1357	47	2	799	2	NAA15	4	140270697	Nonsense_Mutation	SNP	G	TCGA-AB-2915-03A-01W-0745-08	33631912	140270697	50883579	10	1196											
NPM1	4869	genome.wustl.edu	37	5	170834720	170834720	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr5:170834720A>G	ENST00000296930.5	+	10	1089	c.788A>G	c.(787-789)aAa>aGa	p.K263R	NPM1_ENST00000351986.6_Missense_Mutation_p.K234R|NPM1_ENST00000517671.1_Missense_Mutation_p.K263R	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	263	Required for nucleolar localization.				cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCTTCCCAAAGTGGAAGCC	0.368			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	0			5											111	112	112					5																	170834720		2203	4300	6503	170767325	SO:0001583	missense	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.788A>G	5.37:g.170834720A>G	ENSP00000296930:p.Lys263Arg	60	0	0		99	46.2	85	170767325	40	52.38	44	A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Missense_Mutation	SNP	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.K263R	ENST00000296930.5	37	c.788	CCDS4376.1	5	.	.	.	.	.	.	.	.	.	.	A	16.81	3.226626	0.58668	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000351986	T;T;T	0.60040	0.51;0.51;0.22	4.87	4.87	0.63330	.	0.000000	0.85682	U	0.000000	T	0.58061	0.2096	M	0.71581	2.175	0.80722	D	1	B;B	0.25850	0.104;0.136	B;B	0.27076	0.052;0.076	T	0.61695	-0.7010	10	0.66056	D	0.02	.	13.0332	0.58854	1.0:0.0:0.0:0.0	.	234;263	P06748-2;P06748	.;NPM_HUMAN	R	263;263;234	ENSP00000428755:K263R;ENSP00000296930:K263R;ENSP00000341168:K234R	ENSP00000296930:K263R	K	+	2	0	NPM1	170767325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.660000	0.68018	1.949000	0.56562	0.533000	0.62120	AAA	-	NULL		0.368	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	A	NM_002520		170767325	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	170834720	A	G	170834720	3	3	107	1	0	0	0	0	1	0	0	0	10587	14	1	3	839	3	NPM1	5	170834720	Missense_Mutation	SNP	A	TCGA-AB-2915-03A-01W-0745-08		170834720	10080540	11	1197											
EPHA7	2045	genome.wustl.edu	37	6	93967201	93967201	+	Silent	SNP	T	T	C	rs149452129	byFrequency	TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr6:93967201T>C	ENST00000369303.4	-	12	2335	c.2151A>G	c.(2149-2151)ggA>ggG	p.G717G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	717	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CATCTAGGGCTCCATTTTCCA	0.343													T|||	6	0.00119808	0.0045	0	5008	,	,		15807	0		0	False		,,,				2504	0					dbGAP											0			6						T		16,4390	23.3+/-48.9	0,16,2187	89	91	90		2151	2.1	1	6	dbSNP_134	90	0,8600		0,0,4300	yes	coding-synonymous	EPHA7	NM_004440.3		0,16,6487	CC,CT,TT		0.0,0.3631,0.123		717/999	93967201	16,12990	2203	4300	6503	94023922	SO:0001819	synonymous_variant	0			L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3390	protein-coding gene	gene with protein product		602190	"EphA7"			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2151A>G	6.37:g.93967201T>C		56	1.72	1					94023922	66	42.11	48	A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_Growth factor receptor domain,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP	p.G717	ENST00000369303.4	37	c.2151	CCDS5031.1	6																																																																																			-	HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)		0.343	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA7	protein_coding	OTTHUMT00000041545.1	T			94023922	-1	no_errors	NM_004440.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	C	C	93967201	T	C	93967201	2	2	107	1	0	0	0	0	0	0	0	1	5172	1538	54	3		3	EPHA7	6	93967201	Silent	SNP	T	TCGA-AB-2915-03A-01W-0745-08		93967201	77147866	12	1198											
NR2E1	7101	genome.wustl.edu	37	6	108501563	108501563	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr6:108501563G>T	ENST00000368986.4	+	6	1387	c.679G>T	c.(679-681)Gtt>Ttt	p.V227F	NR2E1_ENST00000368983.3_Missense_Mutation_p.V264F	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	227	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		AGAACTGTTTGTTCTAGGAAT	0.328																																						dbGAP											0			6											141	133	136					6																	108501563		2203	4300	6503	108608256	SO:0001583	missense	0			Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"Nuclear hormone receptors"	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.679G>T	6.37:g.108501563G>T	ENSP00000357982:p.Val227Phe	56	0	0					108608256	72	38.98	46	Q6ZMP8	Missense_Mutation	SNP	HMMPfam_Hormone_recep,HMMSmart_SM00430,HMMPfam_zf-C4,HMMSmart_SM00399,PatternScan_NUCLEAR_REC_DBD_1,superfamily_Nuclear receptor ligand-binding domain,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.V227F	ENST00000368986.4	37	c.679	CCDS5063.1	6	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108243	0.77096	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.96491	-4.03;-4.03	5.97	5.97	0.96955	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.050581	0.85682	D	0.000000	D	0.98108	0.9376	M	0.81239	2.535	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	D	0.98106	1.0417	10	0.66056	D	0.02	.	20.4136	0.99023	0.0:0.0:1.0:0.0	.	227	Q9Y466	NR2E1_HUMAN	F	227;264	ENSP00000357982:V227F;ENSP00000357979:V264F	ENSP00000357979:V264F	V	+	1	0	NR2E1	108608256	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.471000	0.97696	2.819000	0.97034	0.655000	0.94253	GTT	-	HMMPfam_Hormone_recep,HMMSmart_SM00430,superfamily_Nuclear receptor ligand-binding domain		0.328	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2E1	protein_coding	OTTHUMT00000041712.2	G			108608256	1	no_errors	NM_003269.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	108501563	G	T	108501563	3	4	107	1	0	0	0	0	1	0	0	0	10625	1377	48	4	701	4	NR2E1	6	108501563	Missense_Mutation	SNP	G	TCGA-AB-2915-03A-01W-0745-08	14534362	108501563	62613504	13	1199											
C9orf91	203197	genome.wustl.edu	37	9	117396074	117396074	+	Silent	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr9:117396074G>A	ENST00000288502.4	+	6	938	c.501G>A	c.(499-501)ctG>ctA	p.L167L	C9orf91_ENST00000374049.4_Silent_p.L168L			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	167						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						ACCTGAGGCTGGCAGCTGCCA	0.592																																						dbGAP											0			9											85	74	78					9																	117396074		2203	4300	6503	116435895	SO:0001819	synonymous_variant	0			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.501G>A	9.37:g.117396074G>A		33	0	0		12	50	12	116435895	59	48.25	55	A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Silent	SNP	NULL	p.L167	ENST00000288502.4	37	c.501	CCDS6808.1	9																																																																																			-	NULL		0.592	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	protein_coding	OTTHUMT00000053780.1	G	NM_153045		116435895	1	no_errors	NM_153045.3	genbank	human	validated	54_36p	silent	SNP	0.985	A	A	117396074	G	A	117396074	2	1	107	1	0	0	0	0	0	0	0	1	2505	1335	47	2		2	C9orf91	9	117396074	Silent	SNP	G	TCGA-AB-2915-03A-01W-0745-08		117396074	23817357	14	1200											
AIFM2	84883	genome.wustl.edu	37	10	71883242	71883242	+	Silent	SNP	C	C	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr10:71883242C>A	ENST00000307864.1	-	3	426	c.213G>T	c.(211-213)gtG>gtT	p.V71V	AIFM2_ENST00000373248.1_Silent_p.V71V	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	71					apoptotic mitochondrial changes (GO:0008637)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CCTTGAAAGTCACCGAGTAAG	0.577																																						dbGAP											0			10											115	103	107					10																	71883242		2203	4300	6503	71553248	SO:0001819	synonymous_variant	0			AK027403	CCDS7297.1	10q22.2	2006-11-16	2006-11-16	2006-11-16	ENSG00000042286	ENSG00000042286			21411	protein-coding gene	gene with protein product		605159	"apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death"	AMID		12135761, 11980907, 15958387	Standard	NM_001198696		Approved	FLJ14497, PRG3	uc001jqp.2	Q9BRQ8	OTTHUMG00000018398	ENST00000307864.1:c.213G>T	10.37:g.71883242C>A		37	2.63	1		7	30	3	71553248	77	42.96	58	B3KXI0|Q63Z39	Silent	SNP	HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain	p.V71	ENST00000307864.1	37	c.213	CCDS7297.1	10																																																																																			-	HMMPfam_Pyr_redox_2,superfamily_FAD/NAD(P)-binding domain		0.577	AIFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM2	protein_coding	OTTHUMT00000048487.1	C	NM_032797		71553248	-1	no_errors	NM_032797.4	genbank	human	reviewed	54_36p	silent	SNP	0.972	A	A	71883242	C	A	71883242	2	1	107	1	0	0	0	0	0	0	0	1	427	813	29	4		4	AIFM2	10	71883242	Silent	SNP	C	TCGA-AB-2915-03A-01W-0745-08		71883242	63651505	15	1201											
GALNTL4	374378	genome.wustl.edu	37	11	11314707	11314707	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr11:11314707C>T	ENST00000227756.4	-	10	1957	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	516	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGAATGCCCACATGGATCTGC	0.587																																						dbGAP											0			11											83	66	72					11																	11314707		2201	4294	6495	11271283	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1546G>A	11.37:g.11314707C>T	ENSP00000227756:p.Val516Met	36	0	0		2	0	0	11271283	119	43.4	92	O95903|Q8NDY9	Missense_Mutation	SNP	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases	p.V516M	ENST00000227756.4	37	c.1546	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170858	0.57584	.	.	ENSG00000110328	ENST00000227756	T	0.27256	1.68	5.7	4.74	0.60224	Ricin B-related lectin (1);Ricin B lectin (3);	0.155924	0.29053	N	0.013288	T	0.33323	0.0859	M	0.65975	2.015	0.36959	D	0.893224	B	0.23316	0.083	B	0.37091	0.241	T	0.34129	-0.9841	10	0.46703	T	0.11	.	10.618	0.45462	0.0:0.7732:0.147:0.0798	.	516	Q6P9A2	GLTL4_HUMAN	M	516	ENSP00000227756:V516M	ENSP00000227756:V516M	V	-	1	0	GALNTL4	11271283	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.901000	0.39838	2.688000	0.91661	0.609000	0.83330	GTG	-	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,superfamily_Ricin B-like lectins		0.587	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL4	protein_coding	OTTHUMT00000385848.1	C	NM_198516		11271283	-1	no_errors	NM_198516.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	11314707	C	T	11314707	3	4	107	1	0	0	0	0	1	0	0	0	6223	478	17	2	285	2	GALNTL4	11	11314707	Missense_Mutation	SNP	C	TCGA-AB-2915-03A-01W-0745-08		11314707	123691809	16	1202											
SSSCA1	10534	genome.wustl.edu	37	11	65339073	65339075	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	CCT	CCT	CCT	-	CCT	CCT	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr11:65339073_65339075delCCT	ENST00000309328.3	+	4	530_532	c.468_470delCCT	c.(466-471)gccctc>gcc	p.L158del	SSSCA1-AS1_ENST00000567594.1_RNA|SSSCA1_ENST00000531405.1_In_Frame_Del_p.L121del|FAM89B_ENST00000316409.2_5'Flank|FAM89B_ENST00000449319.2_5'Flank|FAM89B_ENST00000530349.1_5'Flank|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron	NM_006396.1	NP_006387.1	O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	158					mitotic nuclear division (GO:0007067)					kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CACAGACAGCCCTCTTGCAGAAG	0.616																																						dbGAP											0			11																																								65095651	SO:0001651	inframe_deletion	0			AB001740	CCDS8104.1	11q13.1	2007-10-04	2007-10-04			ENSG00000173465			11328	protein-coding gene	gene with protein product		606044	"Sjogren's syndrome/scleroderma autoantigen 1"			9486406	Standard	NM_006396		Approved	p27	uc001oek.3	O60232		ENST00000309328.3:c.468_470delCCT	11.37:g.65339073_65339075delCCT	ENSP00000312318:p.Leu158del	0	3.7	1		0	23.81	10	65095649	0	27.27	12		In_Frame_Del	DEL	HMMPfam_Auto_anti-p27	p.L158in_frame_del	ENST00000309328.3	37	c.468_470	CCDS8104.1	11																																																																																			-	NULL		0.616	SSSCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSSCA1	protein_coding	OTTHUMT00000389511.1	CCT	NM_006396		65095651	1	no_errors	NM_006396.1	genbank	human	provisional	54_36p	in_frame_del	DEL	0.997:1.000:1.000	-	-	65339075	CCT	-	65339073	7	5	107	1	0	1	0	1	0	0	0	0	15194	610	22	0	482	0	SSSCA1	11	65339073	In_Frame_Del	DEL	CCT	TCGA-AB-2915-03A-01W-0745-08	54024366	65339073	69667443	17	1203											
FLT3	2322	genome.wustl.edu	37	13	28608260	28608261	+	In_Frame_Ins	INS	-	-	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	-	-	-	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr13:28608260_28608261insATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG	ENST00000241453.7	-	14	1876_1877	c.1795_1796insCTGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAAT	c.(1795-1797)tat>tCTGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATat	p.598_599insSGSSDNEYFYVDFREYE	FLT3_ENST00000537084.1_In_Frame_Ins_p.598_599insSGSSDNEYFYVDFREYE|FLT3_ENST00000380982.4_In_Frame_Ins_p.598_599insSGSSDNEYFYVDFREYE	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	598					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y599F(2)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.E598_Y599insWDFREYE(1)|p.E598_Y599ins14(1)|p.Y599_D600>NEYFYVDFREYEY(1)|p.Y599_D600insFDFREYE(1)|p.E598_Y599insFYVDFREYE(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTGAGATCATATTCATATTCT	0.371			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	9	Insertion - In frame(7)|Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(9)	13																																								27506261	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1795_1796insCTGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAAT	13.37:g.28608260_28608261insATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG	ENSP00000241453:p.Glu598_Tyr599insSerGlySerSerAspAsnGluTyrPheTyrValAspPheArgGluTyrGlu								27506260				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.599in_frame_insSGSSDNEYFYVDFREYE	ENST00000241453.7	37	c.1796_1795	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.371	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506261	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.999	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG	28608261	-	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCAG	28608260	7	5	107	1	0	1	1	0	0	0	0	0	5942	1406	49	0	1229	0	FLT3	13	28608260	In_Frame_Ins	INS	-	TCGA-AB-2915-03A-01W-0745-08		28608260	86561618	18	1204											
SERPINB12	89777	genome.wustl.edu	37	18	61234228	61234228	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr18:61234228G>A	ENST00000269491.1	+	7	1202	c.1202G>A	c.(1201-1203)aGg>aAg	p.R401K	SERPINB12_ENST00000382768.1_Missense_Mutation_p.R421K	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	401					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTTATGGCAGGGTCTGCTCT	0.428																																						dbGAP											0			18											55	54	54					18																	61234228		2203	4300	6503	59385208	SO:0001583	missense	0			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"Serine (or cysteine) peptidase inhibitors"	14220	protein-coding gene	gene with protein product		615662	"serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1202G>A	18.37:g.61234228G>A	ENSP00000269491:p.Arg401Lys	156	1.88	3					59385208	223	43.53	175	Q3SYB4	Missense_Mutation	SNP	HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin	p.R401K	ENST00000269491.1	37	c.1202	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	G	7.640	0.680661	0.14907	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.84442	-1.85;-1.85	6.01	4.97	0.65823	Serpin domain (3);	0.146330	0.48767	D	0.000169	T	0.75568	0.3867	L	0.33189	0.99	0.28780	N	0.899917	P;B	0.39443	0.674;0.37	B;B	0.36418	0.224;0.068	T	0.71807	-0.4481	10	0.38643	T	0.18	.	9.8327	0.40952	0.2135:0.0:0.7865:0.0	.	421;401	Q3SYB4;Q96P63	.;SPB12_HUMAN	K	401;421	ENSP00000269491:R401K;ENSP00000372218:R421K	ENSP00000269491:R401K	R	+	2	0	SERPINB12	59385208	0.018000	0.18449	1.000000	0.80357	0.015000	0.08874	1.604000	0.36804	2.860000	0.98153	0.655000	0.94253	AGG	-	HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin		0.428	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	protein_coding	OTTHUMT00000256197.1	G	NM_080474		59385208	1	no_errors	NM_080474.1	genbank	human	provisional	54_36p	missense	SNP	0.998	A	A	61234228	G	A	61234228	3	1	107	1	0	0	0	0	1	0	0	0	14099	1000	35	2	1228	2	SERPINB12	18	61234228	Missense_Mutation	SNP	G	TCGA-AB-2915-03A-01W-0745-08		61234228	16843020	19	1205											
DOT1L	84444	genome.wustl.edu	37	19	2216684	2216684	+	Silent	SNP	G	G	C			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr19:2216684G>C	ENST00000398665.3	+	20	2364	c.2328G>C	c.(2326-2328)ccG>ccC	p.P776P	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	776					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGTCCCCGGCCAAGATTG	0.687																																						dbGAP											0			19											29	35	33					19																	2216684		2068	4178	6246	2167684	SO:0001819	synonymous_variant	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"Chromatin-modifying enzymes / K-methyltransferases"	24948	protein-coding gene	gene with protein product	"histone methyltransferase DOT1L"	607375	"DOT1-like, histone H3 methyltransferase (S. cerevisiae)"			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2328G>C	19.37:g.2216684G>C		5	0	0		30	46.43	26	2167684	3	70	7	O60379|Q96JL1	Silent	SNP	HMMPfam_DOT1,HMMPfam_AT_hook,HMMSmart_AT_hook,superfamily_SSF53335	p.P776	ENST00000398665.3	37	c.2328	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	G	0.680	-0.798479	0.02841	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.21	-10.4	0.00318	.	.	.	.	.	T	0.40743	0.1129	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53795	-0.8388	4	.	.	.	-24.0788	4.5218	0.11962	0.4267:0.064:0.0879:0.4214	.	.	.	.	P	563	.	.	R	+	2	0	DOT1L	2167684	0.000000	0.05858	0.009000	0.14445	0.142000	0.21351	-6.024000	0.00085	-3.832000	0.00101	-1.858000	0.00562	CGG	-	NULL		0.687	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	protein_coding	OTTHUMT00000318066.1	G	NM_032482		2167684	1	no_errors	NM_032482.2	genbank	human	validated	54_36p	silent	SNP	0.759	C	C	2216684	G	C	2216684	2	2	107	1	0	0	0	0	0	0	0	1	4709	1103	39	4		4	DOT1L	19	2216684	Silent	SNP	G	TCGA-AB-2915-03A-01W-0745-08		2216684	56912299	20	1206											
TLE6	79816	genome.wustl.edu	37	19	2989633	2989633	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr19:2989633C>G	ENST00000246112.4	+	13	1295	c.1094C>G	c.(1093-1095)gCg>gGg	p.A365G	TLE6_ENST00000478073.2_3'UTR|TLE6_ENST00000452088.1_Missense_Mutation_p.A242G	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	365					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACCTGGCGGCGCCCTCC	0.657																																						dbGAP											0			19											39	42	41					19																	2989633		2203	4300	6503	2940633	SO:0001583	missense	0			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"WD repeat domain containing"	30788	protein-coding gene	gene with protein product		612399	"transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.1094C>G	19.37:g.2989633C>G	ENSP00000246112:p.Ala365Gly	24	0	0					2940633	86	34.78	48	J3KMZ1	Missense_Mutation	SNP	HMMSmart_WD40,superfamily_WD40_like,PatternScan_WD_REPEATS_1	p.A242G	ENST00000246112.4	37	c.725	CCDS45910.1	19	.	.	.	.	.	.	.	.	.	.	C	13.52	2.261727	0.39995	.	.	ENSG00000104953	ENST00000447920;ENST00000246112;ENST00000452088;ENST00000441927	T;T	0.11385	2.78;2.78	3.16	-2.11	0.07187	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.09468	0.0233	L	0.35341	1.055	0.42771	D	0.993836	P;D;P;P	0.61697	0.949;0.99;0.761;0.901	B;P;B;B	0.52159	0.37;0.691;0.251;0.37	T	0.47774	-0.9091	9	0.52906	T	0.07	.	0.578	0.00707	0.1958:0.3674:0.1919:0.245	.	365;223;242;242	C9JGZ7;Q9Y6S1;Q9H808;Q6PJM9	.;.;TLE6_HUMAN;.	G	365;365;242;242	ENSP00000246112:A365G;ENSP00000406893:A242G	ENSP00000246112:A365G	A	+	2	0	TLE6	2940633	0.295000	0.24389	0.034000	0.17996	0.542000	0.35054	0.697000	0.25556	-0.265000	0.09352	-0.409000	0.06214	GCG	-	superfamily_WD40_like		0.657	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	protein_coding	OTTHUMT00000345996.3	C	NM_024760		2940633	1	no_errors	NM_024760.1	genbank	human	validated	54_36p	missense	SNP	0.999	G	G	2989633	C	G	2989633	3	3	107	1	0	0	0	0	1	0	0	0	15939	768	27	4	1140	4	TLE6	19	2989633	Missense_Mutation	SNP	C	TCGA-AB-2915-03A-01W-0745-08	772949	2989633	56139350	21	1207											
MUC16	94025	genome.wustl.edu	37	19	9060044	9060044	+	Silent	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chr19:9060044G>A	ENST00000397910.4	-	3	27605	c.27402C>T	c.(27400-27402)agC>agT	p.S9134S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9136	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGAGGGATGGCTTAGCCATG	0.493																																						dbGAP											0			19											77	73	74					19																	9060044		2017	4180	6197	8921044	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.27402C>T	19.37:g.9060044G>A		137	2.84	4					8921044	133	42.74	100	Q6ZQW5|Q96RK2	Silent	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain	p.S9134	ENST00000397910.4	37	c.27402	CCDS54212.1	19																																																																																			-	NULL		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690		8921044	-1	no_errors	NM_024690.2	genbank	human	validated	54_36p	silent	SNP	0.000	A	A	9060044	G	A	9060044	2	1	107	1	0	0	0	0	0	0	0	1	9973	1194	42	2		2	MUC16	19	9060044	Silent	SNP	G	TCGA-AB-2915-03A-01W-0745-08	6070411	9060044	50068939	22	1208											
WNK3	65267	genome.wustl.edu	37	X	54334368	54334368	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chrX:54334368C>T	ENST00000375159.2	-	4	1075	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	WNK3_ENST00000375169.3_Missense_Mutation_p.R359Q|WNK3_ENST00000354646.2_Missense_Mutation_p.R359Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	359	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGTTACTTTCCGGTATATTTG	0.343																																						dbGAP											0			X											142	126	132					X																	54334368		2203	4300	6503	54351093	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"protein kinase, lysine deficient 3"	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1076G>A	X.37:g.54334368C>T	ENSP00000364301:p.Arg359Gln	66	1.47	1					54351093	144	37.71	89	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase	p.R359Q	ENST00000375159.2	37	c.1076	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	31	5.074768	0.94000	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.25250	1.81;1.81;1.81	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000024	T	0.35653	0.0939	N	0.13272	0.32	0.44104	D	0.996871	D;D	0.89917	1.0;1.0	D;D	0.77557	0.984;0.99	T	0.37731	-0.9693	10	0.72032	D	0.01	-9.603	17.083	0.86603	0.0:1.0:0.0:0.0	.	359;359	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Q	359	ENSP00000364312:R359Q;ENSP00000346667:R359Q;ENSP00000364301:R359Q	ENSP00000346667:R359Q	R	-	2	0	WNK3	54351093	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.731000	0.84895	2.386000	0.81285	0.544000	0.68410	CGG	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.343	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	C	NM_020922		54351093	-1	no_errors	NM_020922.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	54334368	C	T	54334368	3	4	107	1	0	0	0	0	1	0	0	0	17376	652	23	1	4406	1	WNK3	23	54334368	Missense_Mutation	SNP	C	TCGA-AB-2915-03A-01W-0745-08		54334368	100936192	23	1209											
TCEAL1	9338	genome.wustl.edu	37	X	102884907	102884907	+	Silent	SNP	G	G	A			TCGA-AB-2915-03A-01W-0745-08	TCGA-AB-2915-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7f3f32b0-89db-4deb-84f1-5c0013f33668	733a0414-1086-4395-9859-9f85aad1863f	g.chrX:102884907G>A	ENST00000372625.3	+	3	227	c.63G>A	c.(61-63)gaG>gaA	p.E21E	TCEAL1_ENST00000372626.3_Silent_p.E21E|TCEAL1_ENST00000372624.3_Silent_p.E21E|TCEAL1_ENST00000469820.1_3'UTR	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	19	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1						CCGATGAGGAGAGGCCTCCGG	0.547																																						dbGAP											0			X											15	13	14					X																	102884907		2190	4274	6464	102771563	SO:0001819	synonymous_variant	0			M99701	CCDS35358.1	Xq22.1	2014-03-21			ENSG00000172465	ENSG00000172465			11616	protein-coding gene	gene with protein product		300237				8206389, 7971997, 16221301	Standard	NM_004780		Approved	p21, pp21, SIIR, P21, WEX9	uc004eku.3	Q15170	OTTHUMG00000022699	ENST00000372625.3:c.63G>A	X.37:g.102884907G>A		30	0	0		27	0	0	102771563	68	40	46	Q9UJQ9	Silent	SNP	HMMPfam_TFA	p.E21	ENST00000372625.3	37	c.63	CCDS35358.1	X	.	.	.	.	.	.	.	.	.	.	G	11.87	1.767977	0.31320	.	.	ENSG00000172465	ENST00000537029	.	.	.	4.52	-0.667	0.11395	.	.	.	.	.	T	0.20170	0.0485	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.23476	-1.0187	4	.	.	.	-6.1782	1.4913	0.02457	0.2845:0.1408:0.4283:0.1464	.	.	.	.	K	20	.	.	R	+	2	0	TCEAL1	102771563	0.085000	0.21516	0.000000	0.03702	0.656000	0.38851	0.157000	0.16402	-0.275000	0.09219	0.600000	0.82982	AGA	-	HMMPfam_TFA		0.547	TCEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL1	protein_coding	OTTHUMT00000058903.1	G	NM_004780		102771563	1	no_errors	NM_001006639.1	genbank	human	reviewed	54_36p	silent	SNP	0.807	A	A	102884907	G	A	102884907	2	1	107	1	0	0	0	0	0	0	0	1	15667	933	33	2		2	TCEAL1	23	102884907	Silent	SNP	G	TCGA-AB-2915-03A-01W-0745-08	48550539	102884907	52385653	24	1210											
CD1B	910	genome.wustl.edu	37	1	158300845	158300845	+	Silent	SNP	C	C	T			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr1:158300845C>T	ENST00000368168.3	-	2	176	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	23					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGTCGGCCCCTGGAAGGCTG	0.443																																						dbGAP											0			1											170	169	170					1																	158300845		2203	4300	6503	156567469	SO:0001819	synonymous_variant	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"CD molecules", "Immunoglobulin superfamily / C1-set domain containing"	1635	protein-coding gene	gene with protein product		188360	"CD1B antigen, b polypeptide", "CD1b antigen"	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.69G>A	1.37:g.158300845C>T		296	2.31	7		0	0	0	156567469	148	35.47	83	Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	HMMPfam_MHC_I,HMMPfam_C1-set,HMMSmart_SM00407,superfamily_MHC antigen-recognition domain,superfamily_Immunoglobulin	p.Q23	ENST00000368168.3	37	c.69	CCDS1176.1	1																																																																																			-	NULL		0.443	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	protein_coding	OTTHUMT00000046350.2	C	NM_001764		156567469	-1	no_errors	NM_001764.2	genbank	human	reviewed	54_36p	silent	SNP	0.003	T	T	158300845	C	T	158300845	2	4	108	1	0	0	0	0	0	0	0	1	2975	680	24	2		2	CD1B	1	158300845	Silent	SNP	C	TCGA-AB-2916-03A-01W-0732-08		158300845	90949776	1	1211											
OR2T10	127069	genome.wustl.edu	37	1	248756299	248756299	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr1:248756299G>T	ENST00000330500.2	-	1	801	c.771C>A	c.(769-771)taC>taA	p.Y257*	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCATGTAGTTGTAAATAGCAG	0.448																																						dbGAP											0			1											65	68	67					1																	248756299		2049	4237	6286	246822922	SO:0001587	stop_gained	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"GPCR / Class A : Olfactory receptors"	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.771C>A	1.37:g.248756299G>T	ENSP00000329210:p.Tyr257*	107	2.73	3					246822922	153	38	95	B2RNK7	Nonsense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.Y257*	ENST00000330500.2	37	c.771	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	6.558	0.471301	0.12461	.	.	ENSG00000184022	ENST00000330500	.	.	.	2.35	-0.0136	0.13983	.	.	.	.	.	.	.	.	.	.	.	0.47153	D	0.999331	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.784	0.18322	0.4898:0.0:0.5102:0.0	.	.	.	.	X	257	.	ENSP00000329210:Y257X	Y	-	3	2	OR2T10	246822922	0.000000	0.05858	0.021000	0.16686	0.006000	0.05464	-0.193000	0.09573	0.180000	0.19960	0.447000	0.29281	TAC	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.448	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	protein_coding	OTTHUMT00000097139.1	G	NM_001004693		246822922	-1	no_errors	NM_001004693.1	genbank	human	provisional	54_36p	nonsense	SNP	0.000	T	T	248756299	G	T	248756299	4	4	108	1	0	0	0	0	0	1	0	0	11017	1372	48	4	170	4	OR2T10	1	248756299	Nonsense_Mutation	SNP	G	TCGA-AB-2916-03A-01W-0732-08	90455454	248756299	494322	2	1212											
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55	50	52		2644,2077,2644	5.7	1	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	93	1.06	1		16	34.62	9	25310747	64	30.11	28	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25457243	G	A	25457243	3	1	108	1	0	0	0	0	1	0	0	0	4676	1116	39	1	98	1	DNMT3A	2	25457243	Missense_Mutation	SNP	G	TCGA-AB-2916-03A-01W-0732-08		25457243	217742130	3	1213											
STK39	27347	genome.wustl.edu	37	2	168997252	168997252	+	Silent	SNP	C	C	T			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr2:168997252C>T	ENST00000355999.4	-	6	1350	c.645G>A	c.(643-645)gcG>gcA	p.A215A		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	215	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TTGCTAGGAACGCACTTACCC	0.368																																						dbGAP											0			2											80	82	82					2																	168997252		2040	4232	6272	168705498	SO:0001819	synonymous_variant	0			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"STE20/SPS1 homolog (yeast)"	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.645G>A	2.37:g.168997252C>T		108	0	0		15	57.14	20	168705498	138	35.81	77	O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.A215	ENST00000355999.4	37	c.645	CCDS42770.1	2																																																																																			-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.368	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	protein_coding	OTTHUMT00000258112.2	C	NM_013233		168705498	-1	no_errors	NM_013233.2	genbank	human	reviewed	54_36p	silent	SNP	0.986	T	T	168997252	C	T	168997252	2	4	108	1	0	0	0	0	0	0	0	1	15304	523	19	1		1	STK39	2	168997252	Silent	SNP	C	TCGA-AB-2916-03A-01W-0732-08	143540009	168997252	74202121	4	1214											
BTD	686	genome.wustl.edu	37	3	15686426	15686426	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr3:15686426G>A	ENST00000303498.5	+	4	1172	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	BTD_ENST00000449107.1_Missense_Mutation_p.D357N|BTD_ENST00000437172.1_Missense_Mutation_p.D357N|BTD_ENST00000383778.4_Missense_Mutation_p.D335N	NM_000060.2|NM_001281723.1	NP_000051.1|NP_001268652.1	P43251	BTD_HUMAN	biotinidase	355	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				biotin metabolic process (GO:0006768)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	biotin carboxylase activity (GO:0004075)|biotinidase activity (GO:0047708)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						AGGTGAAACGGACCCATCCCA	0.463																																						dbGAP											0			3											74	75	74					3																	15686426		2203	4300	6503	15661430	SO:0001583	missense	0			AF018631	CCDS2628.1, CCDS63563.1, CCDS63564.1, CCDS63565.1	3p25	2007-03-26			ENSG00000169814	ENSG00000169814	3.5.1.12		1122	protein-coding gene	gene with protein product		609019				8001986	Standard	NM_001281723		Approved		uc003cah.3	P43251	OTTHUMG00000129861	ENST00000303498.5:c.1063G>A	3.37:g.15686426G>A	ENSP00000306477:p.Asp355Asn	97	2.02	2		15	25	5	15661430	105	36.31	61	A6NHF2|B2R865|B4DFX1|B4DLJ9|B7Z7C9|F8W1Q3|Q96EM9	Missense_Mutation	SNP	HMMPfam_CN_hydrolase,superfamily_Carbon-nitrogen hydrolase	p.D355N	ENST00000303498.5	37	c.1063	CCDS2628.1	3	.	.	.	.	.	.	.	.	.	.	G	9.153	1.016812	0.19355	.	.	ENSG00000169814	ENST00000449107;ENST00000303498;ENST00000437172;ENST00000383778	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.58	2.7	0.31948	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (1);	0.485202	0.20970	N	0.082408	T	0.69006	0.3063	N	0.08118	0	0.09310	N	1	B;B;B	0.25235	0.121;0.121;0.121	B;B;B	0.19391	0.025;0.025;0.025	T	0.54702	-0.8254	10	0.15066	T	0.55	-29.2067	7.2111	0.25935	0.132:0.0:0.6313:0.2367	.	357;357;355	A6NHF2;B4DLJ9;P43251	.;.;BTD_HUMAN	N	357;355;357;335	ENSP00000388212:D357N;ENSP00000306477:D355N;ENSP00000400995:D357N;ENSP00000373288:D335N	ENSP00000306477:D355N	D	+	1	0	BTD	15661430	0.004000	0.15560	0.318000	0.25279	0.795000	0.44927	0.564000	0.23563	0.718000	0.32166	0.561000	0.74099	GAC	-	NULL		0.463	BTD-001	KNOWN	basic|CCDS	protein_coding	BTD	protein_coding	OTTHUMT00000252103.2	G	NM_000060		15661430	1	no_errors	NM_000060.2	genbank	human	reviewed	54_36p	missense	SNP	0.003	A	A	15686426	G	A	15686426	3	1	108	1	0	0	0	0	1	0	0	0	1550	1174	41	2	1077	2	BTD	3	15686426	Missense_Mutation	SNP	G	TCGA-AB-2916-03A-01W-0732-08		15686426	182336004	5	1215											
STC2	8614	genome.wustl.edu	37	5	172745042	172745042	+	Silent	SNP	G	G	A			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr5:172745042G>A	ENST00000265087.4	-	4	2026	c.717C>T	c.(715-717)caC>caT	p.H239H	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	239					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTGCTTCCCCGTGGTGGGCCC	0.667																																						dbGAP											0			5											62	63	62					5																	172745042		2203	4300	6503	172677648	SO:0001819	synonymous_variant	0			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.717C>T	5.37:g.172745042G>A		38	2.56	1					172677648	24	43.18	19		Silent	SNP	HMMPfam_Stanniocalcin	p.H239	ENST00000265087.4	37	c.717	CCDS4388.1	5																																																																																			-	HMMPfam_Stanniocalcin		0.667	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	protein_coding	OTTHUMT00000252965.1	G	NM_003714		172677648	-1	no_errors	NM_003714.2	genbank	human	reviewed	54_36p	silent	SNP	0.003	A	A	172745042	G	A	172745042	2	1	108	1	0	0	0	0	0	0	0	1	15275	1136	40	1		1	STC2	5	172745042	Silent	SNP	G	TCGA-AB-2916-03A-01W-0732-08		172745042	8170218	6	1216											
MYB	4602	genome.wustl.edu	37	6	135510959	135510959	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr6:135510959T>C	ENST00000367814.4	+	4	430	c.244T>C	c.(244-246)Tgg>Cgg	p.W82R	MYB_ENST00000442647.2_Missense_Mutation_p.W82R|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.W82R|MYB_ENST00000534121.1_Missense_Mutation_p.W82R|MYB_ENST00000420123.2_Missense_Mutation_p.W58R|MYB_ENST00000534044.1_Missense_Mutation_p.W82R|MYB_ENST00000525369.1_Missense_Mutation_p.W82R|MYB_ENST00000528774.1_Missense_Mutation_p.W82R|MYB_ENST00000527615.1_Missense_Mutation_p.W82R|MYB_ENST00000341911.5_Missense_Mutation_p.W82R|MYB_ENST00000533624.1_Missense_Mutation_p.W82R	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	82	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|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)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCAGCACCGATGGCAGAAAGT	0.393			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0			6											115	125	122					6																	135510959		2203	4300	6503	135552652	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.244T>C	6.37:g.135510959T>C	ENSP00000356788:p.Trp82Arg	94	0	0		52	20	13	135552652	119	10.45	14	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Wos2,HMMPfam_Myb_DNA-binding,HMMPfam_Cmyb_C	p.W82R	ENST00000367814.4	37	c.244	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	T	23.5	4.420635	0.83559	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000420123;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T;T	0.57107	2.0;1.58;1.53;1.59;0.75;1.29;2.0;2.03;1.19;1.63;0.42	5.91	5.91	0.95273	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.82545	0.5060	H	0.99261	4.49	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.997;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0;1.0;0.989;1.0;1.0	D	0.90196	0.4253	10	0.87932	D	0	-5.65	16.3486	0.83191	0.0:0.0:0.0:1.0	.	82;82;82;82;82;82;82;82;82	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	R	82;82;82;82;82;82;58;82;82;82;82;82;36	ENSP00000339992:W82R;ENSP00000410825:W82R;ENSP00000326328:W82R;ENSP00000356788:W82R;ENSP00000433227:W82R;ENSP00000435938:W82R;ENSP00000434723:W82R;ENSP00000432851:W82R;ENSP00000435055:W82R;ENSP00000436605:W82R;ENSP00000390460:W36R	ENSP00000237302:W82R	W	+	1	0	MYB	135552652	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.259000	0.74868	0.528000	0.53228	TGG	-	HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding		0.393	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	protein_coding	OTTHUMT00000042347.4	T			135552652	1	no_errors	NM_005375.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	135510959	T	C	135510959	3	2	108	1	0	0	0	0	1	0	0	0	10007	1464	51	3	258	3	MYB	6	135510959	Missense_Mutation	SNP	T	TCGA-AB-2916-03A-01W-0732-08		135510959	35604108	7	1217											
CSMD1	64478	genome.wustl.edu	37	8	2966162	2966162	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr8:2966162G>T	ENST00000520002.1	-	45	7275	c.6720C>A	c.(6718-6720)gaC>gaA	p.D2240E	CSMD1_ENST00000602723.1_Missense_Mutation_p.D2240E|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2240E|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2239E|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2239E|CSMD1_ENST00000602557.1_Missense_Mutation_p.D2240E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2240	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATTTGAAAAGTCGCTGTGGA	0.488																																						dbGAP											0			8											86	85	85					8																	2966162		1927	4134	6061	2953569	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6720C>A	8.37:g.2966162G>T	ENSP00000430733:p.Asp2240Glu	115	1.71	2					2953569	113	42.79	86	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain	p.L2241I	ENST00000520002.1	37	c.6721		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.20|13.20	2.165047|2.165047	0.38217|0.38217	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.67523|.	-0.27;-0.27;-0.27;-0.27|.	4.95|4.95	3.12|3.12	0.35913|0.35913	CUB (5);|.	0.153108|.	0.42821|.	D|.	0.000644|.	D|D	0.84306|0.84306	0.5443|0.5443	H|H	0.96547|0.96547	3.84|3.84	0.80722|0.80722	D|D	1|1	D;P;D|.	0.71674|.	0.997;0.742;0.998|.	D;P;D|.	0.85130|.	0.992;0.597;0.997|.	D|D	0.85321|0.85321	0.1084|0.1084	10|5	0.59425|.	D|.	0.04|.	.|.	9.1813|9.1813	0.37143|0.37143	0.3084:0.0:0.6916:0.0|0.3084:0.0:0.6916:0.0	.|.	2240;2240;2239|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	E|I	2240;2240;2101;2239;2239|1720	ENSP00000383047:D2240E;ENSP00000430733:D2240E;ENSP00000441462:D2239E;ENSP00000446243:D2239E|.	ENSP00000320445:D2101E|.	D|L	-|-	3|1	2|0	CSMD1|CSMD1	2953569|2953569	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.025000|0.025000	0.11179|0.11179	1.305000|1.305000	0.33493|0.33493	0.572000|0.572000	0.29383|0.29383	0.579000|0.579000	0.79373|0.79373	GAC|CTT	-	NULL		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	G	NM_033225		2953569	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033225.4	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	2966162	G	T	2966162	3	4	108	1	0	0	0	0	1	0	0	0	3944	1020	36	4	4085	4	CSMD1	8	2966162	Missense_Mutation	SNP	G	TCGA-AB-2916-03A-01W-0732-08		2966162	143397860	8	1218											
ARL3	403	genome.wustl.edu	37	10	104449677	104449677	+	Missense_Mutation	SNP	G	G	T	rs201727171	byFrequency	TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr10:104449677G>T	ENST00000260746.5	-	4	419	c.288C>A	c.(286-288)gaC>gaA	p.D96E		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	96					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		ATCTTTTTCTGTCTGCACTGT	0.323																																						dbGAP											0			10											51	56	54					10																	104449677		2203	4298	6501	104439667	SO:0001583	missense	0			U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"ADP-ribosylation factors-like", "ADP-ribosylation factors"	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.288C>A	10.37:g.104449677G>T	ENSP00000260746:p.Asp96Glu	103	0.96	1		9	55	11	104439667	103	36.2	59	B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	HMMSmart_ARF,PatternScan_ARF,HMMPfam_Arf,superfamily_SSF52540	p.D96E	ENST00000260746.5	37	c.288	CCDS7538.1	10	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206575	0.79127	.	.	ENSG00000138175	ENST00000260746	D	0.83250	-1.7	5.78	4.88	0.63580	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92844	0.7724	H	0.97465	4.01	0.80722	D	1	D	0.60160	0.987	P	0.59825	0.864	D	0.94257	0.7499	10	0.87932	D	0	-19.0957	11.479	0.50314	0.1554:0.0:0.8446:0.0	.	96	P36405	ARL3_HUMAN	E	96	ENSP00000260746:D96E	ENSP00000260746:D96E	D	-	3	2	ARL3	104439667	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.926000	0.70070	1.448000	0.47680	0.455000	0.32223	GAC	-	HMMSmart_ARF,HMMPfam_Arf,superfamily_SSF52540		0.323	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL3	protein_coding	OTTHUMT00000050088.2	G	NM_004311		104439667	-1	no_errors	NM_004311.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	104449677	G	T	104449677	3	4	108	1	0	0	0	0	1	0	0	0	935	1368	48	4	272	4	ARL3	10	104449677	Missense_Mutation	SNP	G	TCGA-AB-2916-03A-01W-0732-08		104449677	31085070	9	1219											
KCNA4	3739	genome.wustl.edu	37	11	30033061	30033061	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr11:30033061G>A	ENST00000328224.6	-	2	2398	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	389					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GCAAAGCAGCGAACCACAAAC	0.443																																						dbGAP											0			11											82	77	79					11																	30033061		2040	4231	6271	29989637	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1165C>T	11.37:g.30033061G>A	ENSP00000328511:p.Arg389Cys	479	3.82	19					29989637	154	50.63	160		Missense_Mutation	SNP	HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,HMMPfam_K_channel_TID,superfamily_Voltage-gated potassium channels	p.R389C	ENST00000328224.6	37	c.1165	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038625	0.55003	.	.	ENSG00000182255	ENST00000328224	D	0.98732	-5.1	5.3	5.3	0.74995	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99664	0.9875	H	0.99914	4.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96965	0.9704	10	0.87932	D	0	.	18.9734	0.92724	0.0:0.0:1.0:0.0	.	389	P22459	KCNA4_HUMAN	C	389	ENSP00000328511:R389C	ENSP00000328511:R389C	R	-	1	0	KCNA4	29989637	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	6.597000	0.74118	2.485000	0.83878	0.563000	0.77884	CGC	-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.443	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	protein_coding	OTTHUMT00000388074.2	G	NM_002233		29989637	-1	no_errors	NM_002233.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	30033061	G	A	30033061	3	1	108	1	0	0	0	0	1	0	0	0	8005	1058	37	1	800	1	KCNA4	11	30033061	Missense_Mutation	SNP	G	TCGA-AB-2916-03A-01W-0732-08		30033061	104973455	10	1220											
TRIP4	9325	genome.wustl.edu	37	15	64686316	64686316	+	Splice_Site	SNP	T	T	C			TCGA-AB-2916-03A-01W-0732-08	TCGA-AB-2916-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	40754d09-f57c-442e-bb13-35f5793c381a	4f994b34-a13a-4755-b0d4-2847b1c41e25	g.chr15:64686316T>C	ENST00000261884.3	+	2	331		c.e2+2		TRIP4_ENST00000559565.1_Splice_Site	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAAAGATGGTAAGTTAATGT	0.313																																						dbGAP											0			15											67	67	67					15																	64686316		2203	4300	6503	62473369	SO:0001630	splice_region_variant	0			L40371	CCDS10194.1	15q22.1	2014-02-17			ENSG00000103671	ENSG00000103671		"-"	12310	protein-coding gene	gene with protein product	"zinc finger, C2HC5-type"	604501				7776974	Standard	NM_016213		Approved	HsT17391, ZC2HC5	uc002anm.3	Q15650	OTTHUMG00000133033	ENST00000261884.3:c.271+2T>C	15.37:g.64686316T>C		128	1.53	2		0	100	7	62473369	121	35.94	69	B2RAS0|Q96ED7|Q9UKH0	Splice_Site	SNP	-	e2+2	ENST00000261884.3	37	c.271+2	CCDS10194.1	15	.	.	.	.	.	.	.	.	.	.	T	18.61	3.660883	0.67700	.	.	ENSG00000103671	ENST00000261884	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8776	0.79178	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIP4	62473369	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	4.390000	0.59646	2.289000	0.77006	0.533000	0.62120	.	-	-		0.313	TRIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP4	protein_coding	OTTHUMT00000256635.2	T	NM_016213	Intron	62473369	1	no_errors	NM_016213.3	genbank	human	validated	54_36p	splice_site	SNP	1.000	C	C	64686316	T	C	64686316	5	2	108	1	0	0	0	0	0	0	1	0	16555	1652	57	3	279	3	TRIP4	15	64686316	Splice_Site	SNP	T	TCGA-AB-2916-03A-01W-0732-08		64686316	37845076	11	1221											
CDK11B	8510	genome.wustl.edu	37	1	1571791	1571791	+	IGR	SNP	G	G	A	rs201006058		TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr1:1571791G>A	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Missense_Mutation_p.A613V|CDK11B_ENST00000317673.7_Missense_Mutation_p.A658V|CDK11B_ENST00000407249.3_Missense_Mutation_p.A660V|CDK11B_ENST00000340677.5_Missense_Mutation_p.A647V			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CTTCTTGACTGCTGGGAGCTC	0.572																																						dbGAP											0			1											100	72	81					1																	1571791		1969	4139	6108	1561654	SO:0001628	intergenic_variant	0				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	7171	protein-coding gene	gene with protein product	"matrix metalloproteinase 22", "femalysin", "matrix metalloproteinase in the female reproductive tract"	603321	"matrix metalloproteinase 23B"	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1571791G>A		30	0	0		47	4.08	2	1561654	27	28.95	11	A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Nonsense_Mutation	SNP	NULL	p.Q657*	ENST00000356026.5	37	c.1969	CCDS30559.1	1																																																																																			-	NULL		0.572	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC2L2	protein_coding	OTTHUMT00000158492.2	G	NM_006983		1561654	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033529.2	genbank	human	reviewed	54_36p	nonsense	SNP	0.978	A	A	1571791	G	A	1571791	1	1	109	0	1	0	0	0	0	0	0	0	3127	1319	46	2		2	CDK11B	1	1571791	IGR	SNP	G	TCGA-AB-2917-03A-01W-0732-08		1571791	247678830	1	1222											
GJB3	2707	genome.wustl.edu	37	1	35251009	35251009	+	Nonsense_Mutation	SNP	C	C	T	rs201005859		TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr1:35251009C>T	ENST00000373366.2	+	2	1261	c.646C>T	c.(646-648)Cga>Tga	p.R216*	GJB3_ENST00000373362.3_Nonsense_Mutation_p.R216*|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	216					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CAGGGTCCTGCGAGGCCTGCA	0.627																																						dbGAP											0			1						C	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	46	42	44		646,646	2.1	0	1		44	0,8600		0,0,4300	yes	stop-gained,stop-gained	GJB3	NM_001005752.1,NM_024009.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	216/271,216/271	35251009	1,13005	2203	4300	6503	35023596	SO:0001587	stop_gained	0			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.646C>T	1.37:g.35251009C>T	ENSP00000362464:p.Arg216*	64	0	0					35023596	66	46.4	58	B2R790|Q2TAZ8	Nonsense_Mutation	SNP	HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC	p.R216*	ENST00000373366.2	37	c.646	CCDS384.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.199139	0.97371	2.27E-4	0.0	ENSG00000188910	ENST00000373366;ENST00000373362;ENST00000543647	.	.	.	5.32	2.14	0.27477	.	0.488250	0.20531	N	0.090519	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9213	0.70841	0.6351:0.3649:0.0:0.0	.	.	.	.	X	216;216;200	.	ENSP00000362460:R216X	R	+	1	2	GJB3	35023596	0.000000	0.05858	0.007000	0.13788	0.127000	0.20565	1.140000	0.31516	0.531000	0.28639	0.561000	0.74099	CGA	-	NULL		0.627	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB3	protein_coding	OTTHUMT00000011559.1	C	NM_024009		35023596	1	no_errors	NM_001005752.1	genbank	human	reviewed	54_36p	nonsense	SNP	0.009	T	T	35251009	C	T	35251009	4	4	109	1	0	0	0	0	0	1	0	0	6409	760	27	1	648	1	GJB3	1	35251009	Nonsense_Mutation	SNP	C	TCGA-AB-2917-03A-01W-0732-08	33679218	35251009	213999612	2	1223											
PDC	5132	genome.wustl.edu	37	1	186415594	186415594	+	Missense_Mutation	SNP	C	C	A	rs143530887	byFrequency	TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr1:186415594C>A	ENST00000391997.2	-	3	264	c.177G>T	c.(175-177)agG>agT	p.R59S	PDC_ENST00000497198.1_Missense_Mutation_p.R7S|PDC_ENST00000456239.2_Missense_Mutation_p.R7S|PDC_ENST00000340129.5_Missense_Mutation_p.R59S	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	59					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of catalytic activity (GO:0043086)|phototransduction (GO:0007602)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	phospholipase inhibitor activity (GO:0004859)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		CTTTGCCATTCCTACTCTGAG	0.333																																						dbGAP											0			1											139	133	135					1																	186415594		2203	4300	6503	184682217	SO:0001583	missense	0			AF076464	CCDS1370.1, CCDS41447.1	1q25.2	2013-01-08			ENSG00000116703	ENSG00000116703			8759	protein-coding gene	gene with protein product		171490				8288249	Standard	NM_022576		Approved	MEKA	uc001gsa.4	P20941	OTTHUMG00000035575	ENST00000391997.2:c.177G>T	1.37:g.186415594C>A	ENSP00000375855:p.Arg59Ser	237	2.45	6		2	0	0	184682217	172	39.65	113	Q14816|Q9UP22|Q9UP23	Missense_Mutation	SNP	HMMPfam_Phosducin,superfamily_Thiordxn-like_fd	p.R59S	ENST00000391997.2	37	c.177	CCDS1370.1	1	.	.	.	.	.	.	.	.	.	.	C	6.936	0.542432	0.13250	.	.	ENSG00000116703	ENST00000391997;ENST00000497198;ENST00000456239;ENST00000340129	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.36	3.06	0.35304	Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);Phosducin, domain 2 (1);	0.157851	0.53938	D	0.000054	T	0.18800	0.0451	N	0.02708	-0.52	0.27657	N	0.94722	B	0.27351	0.176	B	0.26310	0.068	T	0.29427	-1.0012	10	0.07175	T	0.84	-7.3128	9.0945	0.36632	0.0:0.1526:0.0:0.8474	.	59	P20941	PHOS_HUMAN	S	59;7;7;59	ENSP00000375855:R59S;ENSP00000422775:R7S;ENSP00000411564:R7S;ENSP00000342033:R59S	ENSP00000342033:R59S	R	-	3	2	PDC	184682217	0.987000	0.35691	0.888000	0.34837	0.076000	0.17211	0.777000	0.26718	0.352000	0.24053	-0.469000	0.05056	AGG	-	HMMPfam_Phosducin,superfamily_Thiordxn-like_fd		0.333	PDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDC	protein_coding	OTTHUMT00000086347.2	C	NM_022577		184682217	-1	no_errors	NM_002597.3	genbank	human	reviewed	54_36p	missense	SNP	0.996	A	A	186415594	C	A	186415594	3	1	109	1	0	0	0	0	1	0	0	0	11614	854	30	4	571	4	PDC	1	186415594	Missense_Mutation	SNP	C	TCGA-AB-2917-03A-01W-0732-08	151164585	186415594	62835027	3	1224											
SCN1A	6323	genome.wustl.edu	37	2	166901716	166901716	+	Missense_Mutation	SNP	C	C	T	rs200176684	byFrequency	TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr2:166901716C>T	ENST00000303395.4	-	10	1498	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	SCN1A_ENST00000409050.1_Missense_Mutation_p.R500Q|SCN1A_ENST00000423058.2_Missense_Mutation_p.R500Q|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R500Q			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	500					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R500Q(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTTCTTCCTCCGATTTCTTCT	0.463													C|||	3	0.000599042	0	0	5008	,	,		18041	0.003		0	False		,,,				2504	0					dbGAP											2	Substitution - Missense(2)	lung(2)	2											216	221	219					2																	166901716		2203	4300	6503	166609962	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"Sodium channels", "Voltage-gated ion channels / Sodium channels"	10585	protein-coding gene	gene with protein product		182389	"febrile convulsions 3"	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1499G>A	2.37:g.166901716C>T	ENSP00000303540:p.Arg500Gln	197	2.94	6					166609962	121	45.74	102	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_IQ,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,PatternScan_RIBONUCLEASE_P,superfamily_SSF81324	p.R500Q	ENST00000303395.4	37	c.1499	CCDS54413.1	2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.8	4.572068	0.86542	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99	6.17	5.28	0.74379	Domain of unknown function DUF3451 (1);	0.282824	0.24856	N	0.035053	D	0.93488	0.7922	M	0.91510	3.215	0.42305	D	0.992195	B;B;B	0.29646	0.086;0.253;0.253	B;B;B	0.22753	0.014;0.041;0.041	D	0.92683	0.6160	10	0.66056	D	0.02	.	17.0721	0.86577	0.0:0.8729:0.1271:0.0	.	500;500;500	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	Q	500	ENSP00000407030:R500Q;ENSP00000303540:R500Q;ENSP00000364554:R500Q;ENSP00000386312:R500Q	ENSP00000303540:R500Q	R	-	2	0	SCN1A	166609962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.228000	0.51270	1.585000	0.49928	0.655000	0.94253	CGG	-	NULL		0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	protein_coding	OTTHUMT00000102661.1	C	NM_006920		166609962	-1	no_errors	NM_006920.4	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	166901716	C	T	166901716	3	4	109	1	0	0	0	0	1	0	0	0	13914	652	23	1	4598	1	SCN1A	2	166901716	Missense_Mutation	SNP	C	TCGA-AB-2917-03A-01W-0732-08		166901716	76297657	4	1225											
GPR78	27201	genome.wustl.edu	37	4	8588898	8588898	+	Silent	SNP	G	G	A	rs374353570		TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr4:8588898G>A	ENST00000382487.4	+	3	1317	c.900G>A	c.(898-900)ccG>ccA	p.P300P	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	300					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCCGCCGGCCGTTCCGCCAAG	0.662																																						dbGAP											0			4						G		0,4406		0,0,2203	40	42	41		900	1.4	0	4		41	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous	GPR78	NM_080819.2		0,1,6499	AA,AG,GG		0.0116,0.0,0.0077		300/364	8588898	1,12999	2203	4297	6500	8639798	SO:0001819	synonymous_variant	0			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"GPCR / Class A : Orphans"	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.900G>A	4.37:g.8588898G>A		56	5.08	3					8639798	19	56.52	26	Q8NGV3	Silent	SNP	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like	p.P300	ENST00000382487.4	37	c.900	CCDS3403.1	4																																																																																			-	superfamily_Family A G protein-coupled receptor-like		0.662	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	protein_coding	OTTHUMT00000359201.1	G			8639798	1	no_errors	NM_080819.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	8588898	G	A	8588898	2	1	109	1	0	0	0	0	0	0	0	1	6710	1132	40	1		1	GPR78	4	8588898	Silent	SNP	G	TCGA-AB-2917-03A-01W-0732-08		8588898	182565378	5	1226											
COL12A1	1303	genome.wustl.edu	37	6	75823318	75823318	+	Splice_Site	SNP	G	G	A			TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr6:75823318G>A	ENST00000322507.8	-	50	8149	c.7840C>T	c.(7840-7842)Cct>Tct	p.P2614S	COL12A1_ENST00000483888.2_Splice_Site_p.P2614S|COL12A1_ENST00000416123.2_Splice_Site_p.P2614S|COL12A1_ENST00000345356.6_Splice_Site_p.P1450S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2614	Laminin G-like.|Nonhelical region (NC3).			P -> S (in Ref. 5; AAB23937). {ECO:0000305}.	cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATTCTTACGATCTGCAATC	0.313																																						dbGAP											0			6											121	109	113					6																	75823318		1816	4070	5886	75880038	SO:0001630	splice_region_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7840+1C>T	6.37:g.75823318G>A		180	4.23	8					75880038	134	42.49	99	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like	p.P2614S	ENST00000322507.8	37	c.7840	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410235	0.62399	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	T;T;T;T;T;T	0.02197	4.4;4.4;4.4;4.4;4.4;4.4	6.03	6.03	0.97812	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.103218	0.64402	N	0.000003	T	0.01489	0.0048	L	0.50333	1.59	0.58432	D	0.999992	P;P	0.45348	0.856;0.455	B;B	0.32211	0.142;0.037	T	0.67189	-0.5733	9	.	.	.	.	20.1857	0.98214	0.0:0.0:1.0:0.0	.	1450;2614	Q99715-2;Q99715	.;COCA1_HUMAN	S	2614;252;2614;1450;2614;2614;168	ENSP00000325146:P2614S;ENSP00000399812:P252S;ENSP00000305147:P1450S;ENSP00000412864:P2614S;ENSP00000421216:P2614S;ENSP00000423423:P168S	.	P	-	1	0	COL12A1	75880038	1.000000	0.71417	0.999000	0.59377	0.708000	0.40852	6.212000	0.72188	2.868000	0.98415	0.557000	0.71058	CCT	-	HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases		0.313	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	G	NM_004370	Missense_Mutation	75880038	-1	no_errors	NM_004370.5	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	75823318	G	A	75823318	5	1	109	1	0	0	0	0	0	0	1	0	3669	1072	37	1	1419	1	COL12A1	6	75823318	Splice_Site	SNP	G	TCGA-AB-2917-03A-01W-0732-08		75823318	95291749	6	1227											
BAIAP2L1	55971	genome.wustl.edu	37	7	97937047	97937047	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr7:97937047C>T	ENST00000005260.8	-	10	1332	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	BAIAP2L1_ENST00000462558.1_5'Flank|RP4-607J23.2_ENST00000609873.1_RNA|RP4-607J23.2_ENST00000608882.1_RNA	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	373	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTTCTCCTCGGGGATGAGC	0.587																																						dbGAP											0			7											165	120	135					7																	97937047		2203	4300	6503	97774983	SO:0001583	missense	0			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1117G>A	7.37:g.97937047C>T	ENSP00000005260:p.Glu373Lys	146	0	0		1	0	0	97774983	131	13.07	20	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2,HMMPfam_IMD	p.E373K	ENST00000005260.8	37	c.1117	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.552012	0.96501	.	.	ENSG00000006453	ENST00000005260	T	0.49432	0.78	4.87	4.87	0.63330	Src homology-3 domain (3);Variant SH3 (1);	0.094859	0.64402	D	0.000001	T	0.62221	0.2410	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63310	-0.6666	10	0.52906	T	0.07	-21.0739	17.3604	0.87348	0.0:1.0:0.0:0.0	.	373	Q9UHR4	BI2L1_HUMAN	K	373	ENSP00000005260:E373K	ENSP00000005260:E373K	E	-	1	0	AC093799.1	97774983	1.000000	0.71417	0.939000	0.37840	0.957000	0.61999	7.445000	0.80570	2.426000	0.82243	0.557000	0.71058	GAG	-	HMMSmart_SH3,superfamily_SH3,HMMPfam_SH3_2		0.587	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	protein_coding	OTTHUMT00000334681.1	C	NM_018842		97774983	-1	no_errors	NM_018842.3	genbank	human	provisional	54_36p	missense	SNP	0.993	T	T	97937047	C	T	97937047	3	4	109	1	0	0	0	0	1	0	0	0	1302	893	31	1	438	1	BAIAP2L1	7	97937047	Missense_Mutation	SNP	C	TCGA-AB-2917-03A-01W-0732-08		97937047	61201616	7	1228											
SLC7A13	157724	genome.wustl.edu	37	8	87242055	87242055	+	Missense_Mutation	SNP	C	C	T	rs144944362	byFrequency	TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr8:87242055C>T	ENST00000297524.3	-	1	555	c.452G>A	c.(451-453)cGt>cAt	p.R151H	SLC7A13_ENST00000419776.2_Missense_Mutation_p.R151H|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	151						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTTCACACCACGAGAAGTCAG	0.453													C|||	5	0.000998403	0.003	0.0014	5008	,	,		20477	0		0	False		,,,				2504	0					dbGAP											0			8						C	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	113	101	105		452	3.1	0	8	dbSNP_134	105	0,8600		0,0,4300	no	missense	SLC7A13	NM_138817.2	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	probably-damaging	151/471	87242055	4,13002	2203	4300	6503	87311171	SO:0001583	missense	0			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"Solute carriers"	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.452G>A	8.37:g.87242055C>T	ENSP00000297524:p.Arg151His	173	0	0					87311171	170	20.09	43	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	HMMPfam_AA_permease	p.R151H	ENST00000297524.3	37	c.452	CCDS34917.1	8	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	6.726	0.502762	0.12822	9.08E-4	0.0	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.90900	-2.75;-2.75	4.87	3.07	0.35406	Amino acid permease domain (1);	0.557178	0.17577	N	0.169258	D	0.91418	0.7292	L	0.54323	1.7	0.09310	N	1	D;D	0.89917	0.999;1.0	D;D	0.68192	0.921;0.956	T	0.81611	-0.0854	10	0.25106	T	0.35	.	6.1931	0.20536	0.0:0.7218:0.0:0.2782	.	151;151	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	H	151	ENSP00000297524:R151H;ENSP00000410982:R151H	ENSP00000297524:R151H	R	-	2	0	SLC7A13	87311171	0.001000	0.12720	0.010000	0.14722	0.214000	0.24535	1.087000	0.30865	1.424000	0.47217	0.609000	0.83330	CGT	-	NULL		0.453	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A13	protein_coding	OTTHUMT00000374704.1	C	NM_138817		87311171	-1	no_errors	NM_138817.2	genbank	human	validated	54_36p	missense	SNP	0.114	T	T	87242055	C	T	87242055	3	4	109	1	0	0	0	0	1	0	0	0	14695	536	19	1	976	1	SLC7A13	8	87242055	Missense_Mutation	SNP	C	TCGA-AB-2917-03A-01W-0732-08		87242055	59121967	8	1229											
KIAA1529	100499483	genome.wustl.edu	37	9	100085148	100085148	+	Missense_Mutation	SNP	G	G	A	rs151161375	byFrequency	TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr9:100085148G>A	ENST00000357054.1	+	26	2677	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	CCDC180_ENST00000395220.1_Missense_Mutation_p.R541H|CCDC180_ENST00000411667.2_Missense_Mutation_p.R439H|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.R442H|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.R442H			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	581						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											ATGCGGATCCGCCTGCTGTAT	0.537													G|||	3	0.000599042	0.0015	0	5008	,	,		21009	0		0	False		,,,				2504	0.001					dbGAP											0			9						G	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	114	89	97		1325	3.2	0.8	9	dbSNP_134	97	0,8600		0,0,4300	yes	missense	C9orf174	NM_020893.2	29	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	442/1702	100085148	4,13002	2203	4300	6503	99124969	SO:0001583	missense	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"Behcet's Disease Associated Gene 1"		"KIAA1529", "chromosome 9 open reading frame 174"	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1742G>A	9.37:g.100085148G>A	ENSP00000349562:p.Arg581His	130	0.76	1		3	40	2	99124969	128	18.4	30	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.R581H	ENST00000357054.1	37	c.1742		9	.	.	.	.	.	.	.	.	.	.	G	5.049	0.194723	0.09599	9.08E-4	0.0	ENSG00000197816	ENST00000357054;ENST00000395220;ENST00000375202;ENST00000411667;ENST00000541524;ENST00000529487	T;T;T;T;T	0.24723	1.84;1.84;1.84;1.84;1.84	5.08	3.17	0.36434	.	0.104257	0.43260	N	0.000584	T	0.14056	0.0340	N	0.17474	0.49	0.27324	N	0.956957	D;B;P;P	0.60160	0.987;0.078;0.606;0.606	P;B;B;B	0.45856	0.495;0.029;0.111;0.111	T	0.07673	-1.0760	10	0.09084	T	0.74	-10.085	7.7642	0.28970	0.2103:0.0:0.7897:0.0	.	439;581;442;581	F5H149;B7ZMG3;Q9P1Z9-2;Q9P1Z9	.;.;.;CI174_HUMAN	H	581;541;442;439;465;442	ENSP00000349562:R581H;ENSP00000378646:R541H;ENSP00000364348:R442H;ENSP00000414000:R439H;ENSP00000434727:R442H	ENSP00000349562:R581H	R	+	2	0	C9orf174	99124969	0.369000	0.25039	0.833000	0.33012	0.019000	0.09904	0.433000	0.21477	1.257000	0.44085	0.462000	0.41574	CGC	-	NULL		0.537	CCDC180-201	KNOWN	basic	protein_coding	KIAA1529	protein_coding		G	NM_020893		99124969	1	no_errors	NM_020893.1	genbank	human	predicted	54_36p	missense	SNP	0.998	A	A	100085148	G	A	100085148	3	1	109	1	0	0	0	0	1	0	0	0	8240	1087	38	1	1800	1	KIAA1529	9	100085148	Missense_Mutation	SNP	G	TCGA-AB-2917-03A-01W-0732-08		100085148	41128283	9	1230											
LTBP3	4054	genome.wustl.edu	37	11	65320427	65320427	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr11:65320427C>T	ENST00000301873.5	-	6	1358	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.V364M	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	364	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGGCGACACACGCCCGGCATT	0.597																																						dbGAP											0			11											158	116	130					11																	65320427		2201	4297	6498	65077003	SO:0001583	missense	0			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"Latent transforming growth factor, beta binding proteins"	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.1090G>A	11.37:g.65320427C>T	ENSP00000301873:p.Val364Met	200	3.35	7		19	38.71	12	65077003	61	42.45	45	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_EGF_CA,HMMPfam_TB,superfamily_Fibril-assoc,HMMPfam_EGF,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196	p.V364M	ENST00000301873.5	37	c.1090	CCDS44647.1	11	.	.	.	.	.	.	.	.	.	.	C	9.057	0.993532	0.19043	.	.	ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000530866	D;D;D	0.92199	-2.99;-2.99;-2.25	4.12	1.69	0.24217	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.130382	0.51477	N	0.000091	D	0.85948	0.5816	L	0.49350	1.555	0.80722	D	1	B;B;B;B	0.20368	0.035;0.044;0.007;0.035	B;B;B;B	0.23275	0.015;0.023;0.015;0.045	T	0.74278	-0.3717	10	0.32370	T	0.25	.	3.2759	0.06898	0.0:0.2271:0.2118:0.5611	.	275;247;364;364	E9PKW1;B9EG76;Q9NS15;Q9NS15-2	.;.;LTBP3_HUMAN;.	M	364;364;275	ENSP00000326647:V364M;ENSP00000301873:V364M;ENSP00000435276:V275M	ENSP00000301873:V364M	V	-	1	0	LTBP3	65077003	0.947000	0.32204	0.996000	0.52242	0.951000	0.60555	0.636000	0.24644	0.147000	0.19030	-0.481000	0.04817	GTG	-	HMMSmart_EGF_CA,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_SSF57196		0.597	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	protein_coding	OTTHUMT00000390538.1	C	NM_021070		65077003	-1	no_errors	NM_021070.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	65320427	C	T	65320427	3	4	109	1	0	0	0	0	1	0	0	0	9075	536	19	1	2913	1	LTBP3	11	65320427	Missense_Mutation	SNP	C	TCGA-AB-2917-03A-01W-0732-08		65320427	69686089	10	1231											
KRAS	3845	genome.wustl.edu	37	12	25398211	25398211	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr12:25398211T>C	ENST00000256078.4	-	2	171	c.108A>G	c.(106-108)atA>atG	p.I36M	KRAS_ENST00000557334.1_Missense_Mutation_p.I36M|KRAS_ENST00000556131.1_Missense_Mutation_p.I36M|KRAS_ENST00000311936.3_Missense_Mutation_p.I36M	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	36			I -> M (in NS3).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GATTTACCTCTATTGTTGGAT	0.368		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	0			12	GRCh37	CM070965	KRAS	M							60	51	54					12																	25398211		2203	4300	6503	25289478	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.108A>G	12.37:g.25398211T>C	ENSP00000256078:p.Ile36Met	45	2.17	1		2	94.29	33	25289478	27	60.29	41	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.I36M	ENST00000256078.4	37	c.108	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	T	18.08	3.545040	0.65198	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55	5.68	4.51	0.55191	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92912	0.7745	H	0.95712	3.71	0.80722	D	1	P;D	0.76494	0.927;0.999	D;D	0.74023	0.918;0.982	D	0.93470	0.6818	10	0.87932	D	0	.	11.2283	0.48897	0.1371:0.0:0.0:0.8629	.	36;36	P01116-2;P01116	.;RASK_HUMAN	M	36	ENSP00000308495:I36M;ENSP00000452512:I36M;ENSP00000256078:I36M;ENSP00000451856:I36M	ENSP00000256078:I36M	I	-	3	3	KRAS	25289478	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.782000	0.26788	0.937000	0.37394	0.460000	0.39030	ATA	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.368	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	T	NM_033360		25289478	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	25398211	T	C	25398211	3	2	109	1	0	0	0	0	1	0	0	0	8438	1512	53	3	598	3	KRAS	12	25398211	Missense_Mutation	SNP	T	TCGA-AB-2917-03A-01W-0732-08		25398211	108453684	11	1232											
DBX2	440097	genome.wustl.edu	37	12	45410290	45410290	+	Missense_Mutation	SNP	G	G	A	rs148988684		TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr12:45410290G>A	ENST00000332700.6	-	4	970	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	267					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AGAGCAGACCGTGAGAGGGGA	0.488																																						dbGAP											0			12						G	TRP/ARG	0,4406		0,0,2203	132	137	135		799	0.3	0	12	dbSNP_134	135	1,8599	1.2+/-3.3	0,1,4299	no	missense	DBX2	NM_001004329.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	267/340	45410290	1,13005	2203	4300	6503	43696557	SO:0001583	missense	0				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"Homeoboxes / ANTP class : NKL subclass"	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.799C>T	12.37:g.45410290G>A	ENSP00000331470:p.Arg267Trp	182	2.66	5					43696557	81	61.5	131		Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1	p.R267W	ENST00000332700.6	37	c.799	CCDS31781.1	12	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567456	0.65651	0.0	1.16E-4	ENSG00000185610	ENST00000332700	D	0.91631	-2.88	5.95	0.339	0.15979	.	0.997902	0.08110	N	0.996336	D	0.89413	0.6708	L	0.32530	0.975	0.09310	N	1	D	0.69078	0.997	P	0.47299	0.543	T	0.79780	-0.1659	10	0.66056	D	0.02	0.0773	12.5062	0.55981	0.0:0.0767:0.3016:0.6217	.	267	Q6ZNG2	DBX2_HUMAN	W	267	ENSP00000331470:R267W	ENSP00000331470:R267W	R	-	1	2	DBX2	43696557	0.001000	0.12720	0.000000	0.03702	0.962000	0.63368	0.171000	0.16685	-0.153000	0.11137	0.650000	0.86243	CGG	-	NULL		0.488	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBX2	protein_coding	OTTHUMT00000404810.1	G	NM_001004329		43696557	-1	no_errors	NM_001004329.2	genbank	human	validated	54_36p	missense	SNP	0.001	A	A	45410290	G	A	45410290	3	1	109	1	0	0	0	0	1	0	0	0	4260	1144	40	1	224	1	DBX2	12	45410290	Missense_Mutation	SNP	G	TCGA-AB-2917-03A-01W-0732-08	20012079	45410290	88441605	12	1233											
SETBP1	26040	genome.wustl.edu	37	18	42531907	42531907	+	Missense_Mutation	SNP	G	G	A	rs267607042		TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr18:42531907G>A	ENST00000282030.5	+	4	2898	c.2602G>A	c.(2602-2604)Gac>Aac	p.D868N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	868			D -> A (in SGMFS). {ECO:0000269|PubMed:20436468}.|D -> G (in myeloid malignancies). {ECO:0000269|PubMed:23628959}.|D -> N (in SGMFS, ACML, JMML and MDS; also found in other myeloid malignancies; somatic mutation). {ECO:0000269|PubMed:20436468, ECO:0000269|PubMed:23222956, ECO:0000269|PubMed:23628959, ECO:0000269|PubMed:23648668, ECO:0000269|PubMed:23832011, ECO:0000269|PubMed:23832012}.|D -> Y (in myeloid malignancies). {ECO:0000269|PubMed:23628959, ECO:0000269|PubMed:23832012}.			nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATCCCCAGCGACAGCGGCAT	0.552									Schinzel-Giedion syndrome																													dbGAP											0			18											71	46	54					18																	42531907		2203	4300	6503	40785905	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2602G>A	18.37:g.42531907G>A	ENSP00000282030:p.Asp868Asn	149	3.85	6		20	48.72	19	40785905	100	50.25	102	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	HMMPfam_AT_hook,HMMSmart_AT_hook	p.D814N	ENST00000282030.5	37	c.2440	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211871	0.79240	.	.	ENSG00000152217	ENST00000282030	D	0.93019	-3.15	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.95211	0.8447	L	0.32530	0.975	0.53688	D	0.999978	D	0.89917	1.0	D	0.87578	0.998	D	0.95183	0.8301	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	868	Q9Y6X0	SETBP_HUMAN	N	868	ENSP00000282030:D868N	ENSP00000282030:D868N	D	+	1	0	SETBP1	40785905	1.000000	0.71417	0.995000	0.50966	0.905000	0.53344	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GAC	-	NULL		0.552	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	protein_coding	OTTHUMT00000255854.4	G	NM_001130110		40785905	1	no_errors	NM_015559.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	42531907	G	A	42531907	3	1	109	1	0	0	0	0	1	0	0	0	14129	1058	37	1	2805	1	SETBP1	18	42531907	Missense_Mutation	SNP	G	TCGA-AB-2917-03A-01W-0732-08		42531907	35545341	13	1234											
OR7D4	125958	genome.wustl.edu	37	19	9324994	9324994	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chr19:9324994T>A	ENST00000308682.2	-	1	548	c.520A>T	c.(520-522)Att>Ttt	p.I174F		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AAATGCGGAATCTCAGTGCCT	0.512																																						dbGAP											0			19											98	92	94					19																	9324994		2203	4300	6503	9185994	SO:0001583	missense	0				CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"GPCR / Class A : Olfactory receptors"	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.520A>T	19.37:g.9324994T>A	ENSP00000310488:p.Ile174Phe	235	4.42	11					9185994	197	47.2	177	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.I174F	ENST00000308682.2	37	c.520	CCDS32901.1	19	.	.	.	.	.	.	.	.	.	.	T	10.43	1.347135	0.24426	.	.	ENSG00000174667	ENST00000308682	T	0.00211	8.54	3.86	1.67	0.24075	GPCR, rhodopsin-like superfamily (1);	0.335127	0.25305	N	0.031629	T	0.00784	0.0026	H	0.98951	4.38	0.09310	N	0.999995	D	0.63046	0.992	D	0.65874	0.939	T	0.45175	-0.9279	10	0.87932	D	0	.	4.4329	0.11536	0.0:0.1942:0.1717:0.6341	.	174	Q8NG98	OR7D4_HUMAN	F	174	ENSP00000310488:I174F	ENSP00000310488:I174F	I	-	1	0	OR7D4	9185994	0.010000	0.17322	0.008000	0.14137	0.014000	0.08584	0.057000	0.14279	0.171000	0.19730	0.358000	0.22013	ATT	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D4	protein_coding	OTTHUMT00000449004.1	T			9185994	-1	no_errors	NM_001005191.1	genbank	human	provisional	54_36p	missense	SNP	0.000	A	A	9324994	T	A	9324994	3	1	109	1	0	0	0	0	1	0	0	0	11220	1435	50	5	422	5	OR7D4	19	9324994	Missense_Mutation	SNP	T	TCGA-AB-2917-03A-01W-0732-08		9324994	49803989	14	1235											
MED12	9968	genome.wustl.edu	37	X	70347217	70347217	+	Missense_Mutation	SNP	C	C	T	rs80338758		TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chrX:70347217C>T	ENST00000374080.3	+	21	2913	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	MED12_ENST00000333646.6_Missense_Mutation_p.R961W|MED12_ENST00000462984.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.R961W			Q93074	MED12_HUMAN	mediator complex subunit 12	961			R -> W (in OKS). {ECO:0000269|PubMed:17334363}.		androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGGGATGAACCGGTCCGATGG	0.517			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0			X	GRCh37	CM071860	MED12	M	rs80338758						80	80	80					X																	70347217		2070	4171	6241	70263942	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)", "mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)", "FG syndrome 1"	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.2881C>T	X.37:g.70347217C>T	ENSP00000363193:p.Arg961Trp	465	5.61	28		2	95.24	40	70263942	199	41.47	141	O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	HMMPfam_Med12	p.R961W	ENST00000374080.3	37	c.2881	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	.	32	5.121577	0.94385	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.0	5.0	0.66597	.	0.067470	0.64402	D	0.000010	D	0.82472	0.5044	N	0.22421	0.69	0.58432	A	0.999999	D;D;D;D	0.71674	0.997;0.998;0.998;0.997	D;P;D;P	0.63283	0.913;0.776;0.913;0.881	D	0.86163	0.1595	9	0.87932	D	0	-20.8211	17.5015	0.87733	0.0:1.0:0.0:0.0	.	961;808;961;961	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	W	961;961;961;961;929	ENSP00000333125:R961W;ENSP00000363215:R961W;ENSP00000363193:R961W;ENSP00000414203:R929W	ENSP00000333125:R961W	R	+	1	2	MED12	70263942	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.358000	0.66064	2.316000	0.78162	0.529000	0.55759	CGG	-	NULL		0.517	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	protein_coding	OTTHUMT00000057105.1	C	NM_005120		70263942	1	no_errors	NM_005120.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	70347217	C	T	70347217	3	4	109	1	0	0	0	0	1	0	0	0	9428	643	23	1	2963	1	MED12	23	70347217	Missense_Mutation	SNP	C	TCGA-AB-2917-03A-01W-0732-08		70347217	84923343	15	1236											
DIAPH2	1730	genome.wustl.edu	37	X	96684726	96684726	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2917-03A-01W-0732-08	TCGA-AB-2917-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	77b0ecc5-d93d-44bf-b2da-fda304c4810b	52fc3d72-1205-44db-8c5b-1e8750a98313	g.chrX:96684726C>T	ENST00000324765.8	+	26	3570	c.3223C>T	c.(3223-3225)Cgg>Tgg	p.R1075W	DIAPH2_ENST00000355827.4_Missense_Mutation_p.R1075W|DIAPH2_ENST00000373049.4_Missense_Mutation_p.R1075W|DIAPH2-AS1_ENST00000439759.2_RNA|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R1075W|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R1071W			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1075	Arg/Lys-rich (basic).|DAD. {ECO:0000255|PROSITE- ProRule:PRU00577}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.R1075W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCGTCGAAAGCGGATTCCAAG	0.408																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	X											72	63	66					X																	96684726		2203	4300	6503	96571382	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"diaphanous (Drosophila, homolog) 2", "diaphanous homolog 2 (Drosophila)"			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3223C>T	X.37:g.96684726C>T	ENSP00000321348:p.Arg1075Trp	208	4.09	9		19	0	0	96571382	103	45.26	86	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	HMMSmart_SM00498,HMMPfam_Drf_DAD,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)	p.R1075W	ENST00000324765.8	37	c.3223	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	12.52	1.963775	0.34659	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.84298	-1.76;-1.75;-1.83;-1.83;-1.76	5.31	2.44	0.29823	Diaphanous autoregulatory (1);	0.000000	0.64402	D	0.000002	D	0.92381	0.7582	M	0.82630	2.6	0.40951	D	0.984543	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92387	0.5918	10	0.87932	D	0	.	16.0188	0.80464	0.3431:0.6569:0.0:0.0	.	1075;1075	O60879;O60879-2	DIAP2_HUMAN;.	W	1075;1071;1075;1075;1075;1082	ENSP00000362152:R1075W;ENSP00000362145:R1071W;ENSP00000348082:R1075W;ENSP00000362140:R1075W;ENSP00000321348:R1075W	ENSP00000321348:R1075W	R	+	1	2	DIAPH2	96571382	1.000000	0.71417	0.990000	0.47175	0.631000	0.37964	0.692000	0.25482	-0.085000	0.12573	-0.918000	0.02743	CGG	-	NULL		0.408	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309		96571382	1	no_errors	NM_006729.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	96684726	C	T	96684726	3	4	109	1	0	0	0	0	1	0	0	0	4519	759	27	1	3325	1	DIAPH2	23	96684726	Missense_Mutation	SNP	C	TCGA-AB-2917-03A-01W-0732-08	26337509	96684726	58585834	16	1237											
DNAH5	1767	genome.wustl.edu	37	5	13841909	13841909	+	Silent	SNP	A	A	G			TCGA-AB-2918-03A-01W-0745-08	TCGA-AB-2918-11A-01W-0761-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0833641-77a1-41fd-b635-d216b00d007b	01fd9c89-fbcb-493a-8137-c03c0cbb53da	g.chr5:13841909A>G	ENST00000265104.4	-	33	5480	c.5376T>C	c.(5374-5376)ctT>ctC	p.L1792L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1792	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCTTCCAAAAGAGAATTAA	0.418									Kartagener syndrome																													dbGAP											0			5											124	124	124					5																	13841909		2203	4300	6503	13894909	SO:0001819	synonymous_variant	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.5376T>C	5.37:g.13841909A>G		131	15.48	24					13894909	127	44.64	104	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540	p.L1792	ENST00000265104.4	37	c.5376	CCDS3882.1	5																																																																																			-	HMMPfam_DHC_N2		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	A	NM_001369		13894909	-1	no_errors	NM_001369.2	genbank	human	validated	54_36p	silent	SNP	0.058	G	G	13841909	A	G	13841909	2	3	110	1	0	0	0	0	0	0	0	1	4604	1	1	3		3	DNAH5	5	13841909	Silent	SNP	A	TCGA-AB-2918-03A-01W-0745-08		13841909	167073351	1	1238											
FLT3	2322	genome.wustl.edu	37	13	28608254	28608255	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2918-03A-01W-0745-08	TCGA-AB-2918-11A-01W-0761-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0833641-77a1-41fd-b635-d216b00d007b	01fd9c89-fbcb-493a-8137-c03c0cbb53da	g.chr13:28608254_28608255insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1882_1883	c.1801_1802insTTCAGAGAATATGAATATGAT	c.(1801-1803)ctc>cTTCAGAGAATATGAATATGATtc	p.601_602insQRI*I*F	FLT3_ENST00000537084.1_In_Frame_Ins_p.601_602insQRI*I*F|FLT3_ENST00000380982.4_In_Frame_Ins_p.601_602insQRI*I*F	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	601					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.D600_L601ins28(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCATTTGAGATCATATTCA	0.371			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	12	Insertion - In frame(8)|Complex - insertion inframe(4)	haematopoietic_and_lymphoid_tissue(12)	13																																								27506255	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1801_1802insTTCAGAGAATATGAATATGAT	13.37:g.28608254_28608255insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Leu601_Lys602insGlnArgIle*Ile*Phe								27506254				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.602in_frame_insQRI*I*F	ENST00000241453.7	37	c.1802_1801	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.371	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506255	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	ATCATATTCATATTCTCTGAA	ATCATATTCATATTCTCTGAA	28608255	-	ATCATATTCATATTCTCTGAA	28608254	7	5	110	1	0	1	1	0	0	0	0	0	5942	304	11	0	1223	0	FLT3	13	28608254	In_Frame_Ins	INS	-	TCGA-AB-2918-03A-01W-0745-08		28608254	86561624	2	1239											
RBBP4	5928	genome.wustl.edu	37	1	33138072	33138072	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr1:33138072G>A	ENST00000373493.5	+	9	1147	c.988G>A	c.(988-990)Gag>Aag	p.E330K	RBBP4_ENST00000414241.3_Missense_Mutation_p.E329K|RBBP4_ENST00000544435.1_Missense_Mutation_p.E78K|RBBP4_ENST00000458695.2_Missense_Mutation_p.E295K|RBBP4_ENST00000373485.1_Missense_Mutation_p.E330K	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	330					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACCTCACAATGAGACTATTTT	0.333																																						dbGAP											0			1											89	83	85					1																	33138072		2203	4299	6502	32910659	SO:0001583	missense	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.988G>A	1.37:g.33138072G>A	ENSP00000362592:p.Glu330Lys	153	0	0		68	22.73	20	32910659	110	15.38	20	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.E330K	ENST00000373493.5	37	c.988	CCDS366.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.681733|4.681733	0.88542|0.88542	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190|ENST00000463378	T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23;0.23;0.23|.	4.69|4.69	4.69|4.69	0.59074|0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67449|0.67449	0.2894|0.2894	L|L	0.46885|0.46885	1.475|1.475	0.80722|0.80722	D|D	1|1	P;P|.	0.38551|.	0.555;0.636|.	B;P|.	0.46585|.	0.218;0.521|.	T|T	0.65134|0.65134	-0.6242|-0.6242	10|5	0.51188|.	T|.	0.08|.	.|.	16.9891|16.9891	0.86348|0.86348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;330|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	K|I	329;330;78;330;295;68|89	ENSP00000398242:E329K;ENSP00000362592:E330K;ENSP00000442384:E78K;ENSP00000362584:E330K;ENSP00000396057:E295K;ENSP00000436565:E68K|.	ENSP00000362584:E330K|.	E|M	+|+	1|3	0|0	RBBP4|RBBP4	32910659|32910659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.736000|9.736000	0.98828|0.98828	2.339000|2.339000	0.79563|0.79563	0.467000|0.467000	0.42956|0.42956	GAG|ATG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.333	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	protein_coding	OTTHUMT00000021957.3	G	NM_005610		32910659	1	no_errors	NM_005610.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	33138072	G	A	33138072	3	1	111	1	0	0	0	0	1	0	0	0	13101	1291	45	2	1022	2	RBBP4	1	33138072	Missense_Mutation	SNP	G	TCGA-AB-2919-03A-01W-0745-08		33138072	216112549	1	1240											
MYBPHL	343263	genome.wustl.edu	37	1	109839466	109839466	+	Silent	SNP	G	G	A			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr1:109839466G>A	ENST00000357155.1	-	5	718	c.669C>T	c.(667-669)aaC>aaT	p.N223N	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	223	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTCCGCACTGGTTTTCAGCAA	0.552																																						dbGAP											0			1											155	120	132					1																	109839466		2203	4300	6503	109640989	SO:0001819	synonymous_variant	0			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"Myosin binding proteins", "Immunoglobulin superfamily / I-set domain containing", "Fibronectin type III domain containing"	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.669C>T	1.37:g.109839466G>A		120	0	0					109640989	82	49.42	85	B7ZME5|Q5T2Z7	Silent	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,superfamily_Immunoglobulin	p.N223	ENST00000357155.1	37	c.669	CCDS30793.1	1																																																																																			-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.552	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPHL	protein_coding	OTTHUMT00000033197.1	G	NM_001010985		109640989	-1	no_errors	NM_001010985.2	genbank	human	validated	54_36p	silent	SNP	0.996	A	A	109839466	G	A	109839466	2	1	111	1	0	0	0	0	0	0	0	1	10015	1252	44	2		2	MYBPHL	1	109839466	Silent	SNP	G	TCGA-AB-2919-03A-01W-0745-08	76701394	109839466	139411155	2	1241											
DNMT3A	1788	genome.wustl.edu	37	2	25468186	25468186	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr2:25468186C>T	ENST00000264709.3	-	13	1827	c.1490G>A	c.(1489-1491)tGt>tAt	p.C497Y	DNMT3A_ENST00000321117.5_Missense_Mutation_p.C497Y|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C308Y|DNMT3A_ENST00000402667.1_Missense_Mutation_p.C274Y|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	497	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGCTCCCACAGGAGATGCA	0.617			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											83	82	82					2																	25468186		2203	4300	6503	25321690	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1490G>A	2.37:g.25468186C>T	ENSP00000264709:p.Cys497Tyr	23	0	0		15	76.56	49	25321690	17	60.47	26	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.C497Y	ENST00000264709.3	37	c.1490	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461072	0.84317	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.62332	0.2419	M	0.79614	2.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65784	-0.6084	10	0.87932	D	0	-3.3863	16.4462	0.83935	0.0:1.0:0.0:0.0	.	497;308	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Y	308;497;497;274	ENSP00000370122:C308Y;ENSP00000324375:C497Y;ENSP00000264709:C497Y;ENSP00000384237:C274Y	ENSP00000264709:C497Y	C	-	2	0	DNMT3A	25321690	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.521000	0.81832	2.735000	0.93741	0.655000	0.94253	TGT	-	NULL		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25321690	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25468186	C	T	25468186	3	4	111	1	0	0	0	0	1	0	0	0	4676	478	17	2	1292	2	DNMT3A	2	25468186	Missense_Mutation	SNP	C	TCGA-AB-2919-03A-01W-0745-08		25468186	217731187	3	1242											
RIF1	55183	genome.wustl.edu	37	2	152319466	152319466	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr2:152319466T>A	ENST00000243326.5	+	29	3915	c.3432T>A	c.(3430-3432)caT>caA	p.H1144Q	RIF1_ENST00000444746.2_Missense_Mutation_p.H1144Q|RIF1_ENST00000430328.2_Missense_Mutation_p.H1144Q|RIF1_ENST00000453091.2_Missense_Mutation_p.H1144Q|RIF1_ENST00000428287.2_Missense_Mutation_p.H1144Q			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGCTGAACATCTTGAAAAGT	0.373																																						dbGAP											0			2											67	63	64					2																	152319466		2203	4300	6503	152027712	SO:0001583	missense	0			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"RAP1 interacting factor homolog (yeast)"			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3432T>A	2.37:g.152319466T>A	ENSP00000243326:p.His1144Gln	60	1.64	1		33	51.47	35	152027712	69	52.67	79	A0AVS0|Q9NS16	Missense_Mutation	SNP	superfamily_ARM repeat,PatternScan_ABC_TRANSPORTER_1	p.H1144Q	ENST00000243326.5	37	c.3432	CCDS2194.1	2	.	.	.	.	.	.	.	.	.	.	T	5.755	0.323689	0.10900	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.10477	2.87;2.87;2.87;2.87;2.87	5.21	4.04	0.47022	.	0.691299	0.15046	N	0.283570	T	0.09423	0.0232	L	0.50919	1.6	0.41861	D	0.990221	P;P	0.40000	0.698;0.646	B;B	0.36030	0.11;0.216	T	0.21484	-1.0244	10	0.14656	T	0.56	-4.8077	8.2307	0.31597	0.0:0.1574:0.0:0.8426	.	1144;1144	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	Q	1144	ENSP00000390181:H1144Q;ENSP00000414615:H1144Q;ENSP00000415691:H1144Q;ENSP00000243326:H1144Q;ENSP00000416123:H1144Q	ENSP00000243326:H1144Q	H	+	3	2	RIF1	152027712	0.912000	0.30974	0.634000	0.29324	0.155000	0.21991	1.890000	0.39728	0.808000	0.34231	0.383000	0.25322	CAT	-	superfamily_ARM repeat		0.373	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	protein_coding	OTTHUMT00000254836.3	T			152027712	1	no_errors	NM_018151.3	genbank	human	validated	54_36p	missense	SNP	0.057	A	A	152319466	T	A	152319466	3	1	111	1	0	0	0	0	1	0	0	0	13359	1432	50	5	3546	5	RIF1	2	152319466	Missense_Mutation	SNP	T	TCGA-AB-2919-03A-01W-0745-08	126851280	152319466	90879907	4	1243											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	43	0	0		34	52.78	38	208821358	64	42.98	49	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	111	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2919-03A-01W-0745-08	56793647	209113113	34086260	5	1244											
UBP1	7342	genome.wustl.edu	37	3	33450276	33450276	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr3:33450276G>T	ENST00000283629.3	-	8	1362	c.833C>A	c.(832-834)cCt>cAt	p.P278H	UBP1_ENST00000447368.2_Intron|UBP1_ENST00000283628.5_Missense_Mutation_p.P278H|UBP1_ENST00000486388.1_5'Flank	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	278					angiogenesis (GO:0001525)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TTCAATTATAGGCTCAAGCCT	0.433																																						dbGAP											0			3											109	105	106					3																	33450276		2203	4300	6503	33425280	SO:0001583	missense	0			AF198487	CCDS2659.1, CCDS46788.1	3p22.3	2004-03-02			ENSG00000153560	ENSG00000153560			12507	protein-coding gene	gene with protein product		609784				8114710	Standard	NM_014517		Approved	LBP-1a	uc010hga.3	Q9NZI7	OTTHUMG00000130749	ENST00000283629.3:c.833C>A	3.37:g.33450276G>T	ENSP00000283629:p.Pro278His	218	0.9	2		36	38.98	23	33425280	169	47.4	155	Q68CT0|Q86Y57|Q9H8V0|Q9UD76|Q9UD78	Missense_Mutation	SNP	HMMPfam_CP2,superfamily_SAM/Pointed domain	p.P278H	ENST00000283629.3	37	c.833	CCDS2659.1	3	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130634	0.77549	.	.	ENSG00000153560	ENST00000283629;ENST00000283628	T;T	0.18338	2.22;2.22	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00795	-1.1563	10	0.44086	T	0.13	-11.5197	18.833	0.92148	0.0:0.0:1.0:0.0	.	278	Q9NZI7	UBIP1_HUMAN	H	278	ENSP00000283629:P278H;ENSP00000283628:P278H	ENSP00000283628:P278H	P	-	2	0	UBP1	33425280	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.855000	0.92236	2.890000	0.99128	0.585000	0.79938	CCT	-	NULL		0.433	UBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBP1	protein_coding	OTTHUMT00000253249.2	G	NM_014517		33425280	-1	no_errors	NM_014517.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	33450276	G	T	33450276	3	4	111	1	0	0	0	0	1	0	0	0	16892	1000	35	4	825	4	UBP1	3	33450276	Missense_Mutation	SNP	G	TCGA-AB-2919-03A-01W-0745-08		33450276	164572154	6	1245											
GRIK2	2898	genome.wustl.edu	37	6	102516280	102516280	+	Missense_Mutation	SNP	G	G	A	rs267600750		TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr6:102516280G>A	ENST00000421544.1	+	16	3111	c.2621G>A	c.(2620-2622)cGg>cAg	p.R874Q	GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.R825Q|GRIK2_ENST00000369137.3_Missense_Mutation_p.R798Q|GRIK2_ENST00000413795.1_3'UTR	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	874					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGCCAGCGTCGGTTAAAACAT	0.403																																						dbGAP											0			6											114	105	108					6																	102516280		2203	4300	6503	102622973	SO:0001583	missense	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2621G>A	6.37:g.102516280G>A	ENSP00000397026:p.Arg874Gln	165	1.2	2					102622973	191	16.23	37	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II	p.R874Q	ENST00000421544.1	37	c.2621	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466109	0.84425	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.11169	2.8;3.02;2.81	5.79	5.79	0.91817	.	0.054969	0.85682	N	0.000000	T	0.07413	0.0187	L	0.54323	1.7	0.54753	D	0.999985	P	0.51351	0.944	B	0.38683	0.279	T	0.28490	-1.0042	10	0.30078	T	0.28	.	20.0361	0.97558	0.0:0.0:1.0:0.0	.	874	Q13002	GRIK2_HUMAN	Q	874;798;825	ENSP00000397026:R874Q;ENSP00000358133:R798Q;ENSP00000358130:R825Q	ENSP00000358130:R825Q	R	+	2	0	GRIK2	102622973	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.745000	0.94114	0.462000	0.41574	CGG	-	NULL		0.403	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	protein_coding	OTTHUMT00000043718.1	G			102622973	1	no_errors	NM_021956.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	102516280	G	A	102516280	3	1	111	1	0	0	0	0	1	0	0	0	6774	1116	39	1	2856	1	GRIK2	6	102516280	Missense_Mutation	SNP	G	TCGA-AB-2919-03A-01W-0745-08		102516280	68598787	7	1246											
MPDZ	8777	genome.wustl.edu	37	9	13224490	13224490	+	Silent	SNP	C	C	T			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr9:13224490C>T	ENST00000319217.7	-	4	523	c.276G>A	c.(274-276)tcG>tcA	p.S92S	MPDZ_ENST00000546205.1_Silent_p.S92S|MPDZ_ENST00000381022.2_Silent_p.S92S|MPDZ_ENST00000536827.1_Silent_p.S92S|MPDZ_ENST00000447879.1_Silent_p.S92S|MPDZ_ENST00000541718.1_Silent_p.S92S|MPDZ_ENST00000381015.4_Silent_p.S92S	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	92			S -> L (in dbSNP:rs17273542).		cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAATAAAAACGATTCATTTT	0.398																																						dbGAP											0			9											118	113	114					9																	13224490		1860	4094	5954	13214490	SO:0001819	synonymous_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.276G>A	9.37:g.13224490C>T		127	0.78	1		1	0	0	13214490	130	40.37	88	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_L27_2,superfamily_L27 domain	p.S92	ENST00000319217.7	37	c.276		9																																																																																			-	NULL		0.398	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13214490	-1	no_errors	NM_003829.3	genbank	human	validated	54_36p	silent	SNP	0.705	T	T	13224490	C	T	13224490	2	4	111	1	0	0	0	0	0	0	0	1	9722	523	19	1		1	MPDZ	9	13224490	Silent	SNP	C	TCGA-AB-2919-03A-01W-0745-08		13224490	127988941	8	1247											
WT1	7490	genome.wustl.edu	37	11	32413557	32413557	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr11:32413557G>A	ENST00000379079.2	-	9	1030	c.757C>T	c.(757-759)Cac>Tac	p.H253Y	WT1_ENST00000530998.1_Missense_Mutation_p.H236Y|WT1_ENST00000332351.3_Missense_Mutation_p.H465Y|WT1_ENST00000448076.3_Missense_Mutation_p.H465Y	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	397			G -> A (in WT1). {ECO:0000269|PubMed:9108089}.		adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V380_S410del(1)|p.H397D(1)|p.?fs(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTCTTCAGGTGGTCGGACCGG	0.418			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	3	Substitution - Missense(1)|Deletion - In frame(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	11											196	194	194					11																	32413557		2202	4299	6501	32370133	SO:0001583	missense	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.757C>T	11.37:g.32413557G>A	ENSP00000368370:p.His253Tyr	86	0	0		62	16.22	12	32370133	119	25.47	41	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.H465Y	ENST00000379079.2	37	c.1393	CCDS55751.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.152265|5.152265	0.94645|0.94645	.|.	.|.	ENSG00000184937|ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076|ENST00000527882	T;T;T;T;T|.	0.60548|.	2.62;0.18;0.18;2.62;2.62|.	6.04|6.04	6.04|6.04	0.98038|0.98038	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	T|T	0.67988|0.67988	0.2952|0.2952	L|L	0.39147|0.39147	1.195|1.195	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.999;0.999;0.998;0.995|.	D;D;D;D;D|.	0.91635|.	0.998;0.999;0.999;0.998;0.997|.	T|T	0.60459|0.60459	-0.7259|-0.7259	10|5	0.59425|.	D|.	0.04|.	.|.	20.5792|20.5792	0.99380|0.99380	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	453;397;470;236;253|.	P19544-8;P19544;P19544-7;B3KSA5;P19544-6|.	.;WT1_HUMAN;.;.;.|.	Y|L	253;465;236;448;465|125	ENSP00000368370:H253Y;ENSP00000331327:H465Y;ENSP00000435307:H236Y;ENSP00000415516:H448Y;ENSP00000413452:H465Y|.	ENSP00000331327:H465Y|.	H|P	-|-	1|2	0|0	WT1|WT1	32370133|32370133	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.837000|9.837000	0.99465|0.99465	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	CAC|CCA	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.418	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	G	NM_000378		32370133	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	32413557	G	A	32413557	3	1	111	1	0	0	0	0	1	0	0	0	17405	1348	47	2	168	2	WT1	11	32413557	Missense_Mutation	SNP	G	TCGA-AB-2919-03A-01W-0745-08		32413557	102592959	9	1248											
FAM48A	55578	genome.wustl.edu	37	13	37591471	37591471	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chr13:37591471G>C	ENST00000350612.6	-	23	2123	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	SUPT20H_ENST00000475892.1_Missense_Mutation_p.L714V|SUPT20H_ENST00000464744.1_Missense_Mutation_p.L636V|SUPT20H_ENST00000356185.3_Missense_Mutation_p.L636V|SUPT20H_ENST00000360252.4_Missense_Mutation_p.L636V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	635					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TGCTGCTGCAGAGTGTTAAAA	0.378																																						dbGAP											0			13											116	105	109					13																	37591471		2203	4300	6503	36489471	SO:0001583	missense	0			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"p38 interacting protein", "transcription factor (p38 interacting protein)"	613417	"chromosome 13 open reading frame 19", "family with sequence similarity 48, member A"	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1903C>G	13.37:g.37591471G>C	ENSP00000218894:p.Leu635Val	115	0.86	1		46	51.06	48	36489471	102	48.76	98	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	NULL	p.L635V	ENST00000350612.6	37	c.1903	CCDS31959.1	13	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725289	0.30593	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744	T;T;T;T;T	0.52295	0.72;0.67;1.31;0.72;0.72	5.66	4.82	0.62117	.	0.200442	0.33057	N	0.005337	T	0.35653	0.0939	L	0.46157	1.445	0.80722	D	1	B;B;B;B	0.13594	0.005;0.005;0.008;0.005	B;B;B;B	0.21360	0.015;0.015;0.034;0.015	T	0.14392	-1.0474	10	0.13108	T	0.6	-0.0409	6.5719	0.22543	0.15:0.0:0.7032:0.1467	.	714;636;636;635	E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;FA48A_HUMAN	V	636;714;635;636;635;636	ENSP00000353388:L636V;ENSP00000417510:L714V;ENSP00000218894:L635V;ENSP00000348512:L636V;ENSP00000419754:L636V	ENSP00000218894:L635V	L	-	1	2	FAM48A	36489471	1.000000	0.71417	0.961000	0.40146	0.949000	0.60115	2.865000	0.48412	1.429000	0.47314	0.644000	0.83932	CTG	-	NULL		0.378	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM48A	protein_coding	OTTHUMT00000354766.1	G	NM_017569		36489471	-1	no_errors	NM_001014286.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	37591471	G	C	37591471	3	2	111	1	0	0	0	0	1	0	0	0	5572	933	33	4	452	4	FAM48A	13	37591471	Missense_Mutation	SNP	G	TCGA-AB-2919-03A-01W-0745-08		37591471	77578407	10	1249											
MAP7D2	256714	genome.wustl.edu	37	X	20033425	20033425	+	Silent	SNP	C	C	T			TCGA-AB-2919-03A-01W-0745-08	TCGA-AB-2919-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	296585d2-3c3a-42ae-a565-250ca150353b	8e5dd512-6e0d-4dfd-8e74-d66bff89b042	g.chrX:20033425C>T	ENST00000379651.3	-	11	1560	c.1542G>A	c.(1540-1542)aaG>aaA	p.K514K	MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000543767.1_Silent_p.K399K|MAP7D2_ENST00000443379.3_Silent_p.K469K|MAP7D2_ENST00000452324.3_Silent_p.K462K|MAP7D2_ENST00000379643.5_Silent_p.K555K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	514					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCTCCCGGGCCTTTGTTTCTG	0.458																																						dbGAP											0			X											131	105	114					X																	20033425		2203	4300	6503	19943346	SO:0001819	synonymous_variant	0			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1542G>A	X.37:g.20033425C>T		130	0	0					19943346	141	45.35	117	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Silent	SNP	HMMPfam_MAP7	p.K514	ENST00000379651.3	37	c.1542	CCDS14195.1	X																																																																																			-	HMMPfam_MAP7		0.458	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP7D2	protein_coding	OTTHUMT00000056001.1	C	NM_152780		19943346	-1	no_errors	NM_152780.2	genbank	human	provisional	54_36p	silent	SNP	0.996	T	T	20033425	C	T	20033425	2	4	111	1	0	0	0	0	0	0	0	1	9268	680	24	2		2	MAP7D2	23	20033425	Silent	SNP	C	TCGA-AB-2919-03A-01W-0745-08		20033425	135237135	11	1250											
PEAR1	375033	genome.wustl.edu	37	1	156875138	156875138	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr1:156875138C>T	ENST00000338302.3	+	5	454	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R77C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	77	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R77S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACCGTGTACCGTCAGGTGGT	0.657																																						dbGAP											1	Substitution - Missense(1)	lung(1)	1											65	58	61					1																	156875138		2203	4300	6503	155141762	SO:0001583	missense	0			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"multiple EGF-like-domains 12"	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.229C>T	1.37:g.156875138C>T	ENSP00000344465:p.Arg77Cys	59	1.67	1		1	50	1	155141762	96	43.86	75	Q8TEK2	Missense_Mutation	SNP	HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,HMMSmart_EGF,superfamily_Grow_fac_recept,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2	p.R77C	ENST00000338302.3	37	c.229	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641052	0.67244	.	.	ENSG00000187800	ENST00000338302;ENST00000455314;ENST00000292357	D;T;D	0.90844	-2.74;0.51;-2.74	3.92	3.92	0.45320	EMI domain (1);	0.180201	0.27035	N	0.021250	D	0.89818	0.6825	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	D	0.63488	0.915	D	0.91395	0.5138	10	0.87932	D	0	.	13.4913	0.61397	0.0:1.0:0.0:0.0	.	77	Q5VY43	PEAR1_HUMAN	C	77	ENSP00000344465:R77C;ENSP00000389742:R77C;ENSP00000292357:R77C	ENSP00000292357:R77C	R	+	1	0	PEAR1	155141762	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	1.860000	0.39428	2.015000	0.59207	0.655000	0.94253	CGT	-	HMMPfam_EMI		0.657	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	protein_coding	OTTHUMT00000098937.2	C	NM_001080471		155141762	1	no_errors	NM_001080471.1	genbank	human	provisional	54_36p	missense	SNP	0.994	T	T	156875138	C	T	156875138	3	4	112	1	0	0	0	0	1	0	0	0	11712	652	23	1	239	1	PEAR1	1	156875138	Missense_Mutation	SNP	C	TCGA-AB-2920-03A-01W-0732-08		156875138	92375483	1	1251											
MAL	4118	genome.wustl.edu	37	2	95715340	95715340	+	Silent	SNP	C	C	T			TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr2:95715340C>T	ENST00000309988.4	+	3	385	c.276C>T	c.(274-276)caC>caT	p.H92H	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Silent_p.H36H|AC103563.9_ENST00000442200.1_RNA	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	92	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|membrane raft polarization (GO:0001766)|myelination (GO:0042552)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	channel activity (GO:0015267)|lipid binding (GO:0008289)|peptidase activator activity involved in apoptotic process (GO:0016505)|structural constituent of myelin sheath (GO:0019911)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CAGCCTACCACTGCACCGCTG	0.632																																						dbGAP											0			2											136	121	126					2																	95715340		2203	4300	6503	95079067	SO:0001819	synonymous_variant	0				CCDS2006.1, CCDS2007.1, CCDS2008.1, CCDS2009.1	2q11.1	2008-07-29			ENSG00000172005	ENSG00000172005			6817	protein-coding gene	gene with protein product		188860					Standard	NM_002371		Approved		uc002stx.2	P21145	OTTHUMG00000132011	ENST00000309988.4:c.276C>T	2.37:g.95715340C>T		20	9.09	2		15	0	0	95079067	46	43.37	36	Q6FH77	Silent	SNP	HMMPfam_MARVEL	p.H92	ENST00000309988.4	37	c.276	CCDS2006.1	2																																																																																			-	HMMPfam_MARVEL		0.632	MAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAL	protein_coding	OTTHUMT00000254982.3	C	NM_002371		95079067	1	no_errors	NM_002371.2	genbank	human	reviewed	54_36p	silent	SNP	0.425	T	T	95715340	C	T	95715340	2	4	112	1	0	0	0	0	0	0	0	1	9199	564	20	2		2	MAL	2	95715340	Silent	SNP	C	TCGA-AB-2920-03A-01W-0732-08		95715340	147484033	2	1252											
ABCF1	23	genome.wustl.edu	37	6	30554429	30554429	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr6:30554429G>A	ENST00000326195.8	+	20	2084	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S	ABCF1_ENST00000376545.3_Missense_Mutation_p.G620S|ABCF1_ENST00000396515.4_Intron|MIR877_ENST00000401282.1_RNA	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	658	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TTGCATTGTGGGCCCTAATGG	0.567																																						dbGAP											0			6											184	144	158					6																	30554429		1511	2709	4220	30662408	SO:0001583	missense	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"ATP binding cassette transporters / subfamily F"	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.1972G>A	6.37:g.30554429G>A	ENSP00000313603:p.Gly658Ser	238	7.39	19		22	62.07	36	30662408	281	40.95	199	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G658S	ENST00000326195.8	37	c.1972	CCDS34380.1	6	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921106	0.92249	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.99863	-7.27;-7.27	5.63	5.63	0.86233	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99941	0.9974	H	0.99404	4.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95992	0.8986	10	0.87932	D	0	-17.4068	18.4508	0.90703	0.0:0.0:1.0:0.0	.	620;658	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	S	658;620	ENSP00000313603:G658S;ENSP00000365728:G620S	ENSP00000313603:G658S	G	+	1	0	ABCF1	30662408	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	8.521000	0.90569	2.651000	0.90000	0.555000	0.69702	GGC	-	HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.567	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	protein_coding	OTTHUMT00000076137.3	G			30662408	1	no_errors	NM_001025091.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	30554429	G	A	30554429	3	1	112	1	0	0	0	0	1	0	0	0	65	1232	43	2	2050	2	ABCF1	6	30554429	Missense_Mutation	SNP	G	TCGA-AB-2920-03A-01W-0732-08		30554429	140560638	3	1253											
VARS2	57176	genome.wustl.edu	37	6	30886617	30886617	+	Silent	SNP	G	G	A			TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr6:30886617G>A	ENST00000321897.5	+	10	1631	c.999G>A	c.(997-999)gtG>gtA	p.V333V	VARS2_ENST00000542001.1_Silent_p.V193V|VARS2_ENST00000416670.2_Silent_p.V333V|VARS2_ENST00000541562.1_Silent_p.V363V			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	333					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CAGAGGTTGTGGTAGGAACCA	0.507																																						dbGAP											0			6											99	82	88					6																	30886617		1509	2709	4218	30994596	SO:0001819	synonymous_variant	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.999G>A	6.37:g.30886617G>A		71	8.97	7		49	55.86	62	30994596	123	47.26	112	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase	p.V333	ENST00000321897.5	37	c.999	CCDS34387.1	6																																																																																			-	HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase		0.507	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	protein_coding	OTTHUMT00000076566.2	G	NM_020442		30994596	1	no_errors	NM_020442.3	genbank	human	provisional	54_36p	silent	SNP	0.615	A	A	30886617	G	A	30886617	2	1	112	1	0	0	0	0	0	0	0	1	17121	1335	47	2		2	VARS2	6	30886617	Silent	SNP	G	TCGA-AB-2920-03A-01W-0732-08	332188	30886617	140228450	4	1254											
ACTL7A	10881	genome.wustl.edu	37	9	111625878	111625878	+	Missense_Mutation	SNP	G	G	C	rs534593253		TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr9:111625878G>C	ENST00000333999.3	+	1	1276	c.1276G>C	c.(1276-1278)Ggg>Cgg	p.G426R		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	426						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGAGGAACACGGGCCTTTCTT	0.582																																					Esophageal Squamous(177;1480 3591 17554)	dbGAP											0			9											66	62	63					9																	111625878		2203	4300	6503	110665699	SO:0001583	missense	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1276G>C	9.37:g.111625878G>C	ENSP00000334300:p.Gly426Arg	37	2.63	1					110665699	61	52.34	67	B2RC83|Q5JSV0	Missense_Mutation	SNP	HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain	p.G426R	ENST00000333999.3	37	c.1276	CCDS6772.1	9	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441144	0.83993	.	.	ENSG00000187003	ENST00000333999	D	0.81908	-1.55	5.44	5.44	0.79542	.	0.000000	0.47455	D	0.000229	D	0.94112	0.8112	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95556	0.8625	10	0.87932	D	0	.	17.1282	0.86720	0.0:0.0:1.0:0.0	.	426	Q9Y615	ACL7A_HUMAN	R	426	ENSP00000334300:G426R	ENSP00000334300:G426R	G	+	1	0	ACTL7A	110665699	1.000000	0.71417	0.972000	0.41901	0.976000	0.68499	7.996000	0.88334	2.715000	0.92844	0.655000	0.94253	GGG	-	HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain		0.582	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	protein_coding	OTTHUMT00000053570.1	G	NM_006687		110665699	1	no_errors	NM_006687.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	111625878	G	C	111625878	3	2	112	1	0	0	0	0	1	0	0	0	200	1116	39	4	1278	4	ACTL7A	9	111625878	Missense_Mutation	SNP	G	TCGA-AB-2920-03A-01W-0732-08		111625878	29587553	5	1255											
KCNA4	3739	genome.wustl.edu	37	11	30033933	30033933	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr11:30033933C>T	ENST00000328224.6	-	2	1526	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	98					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	GCTGCTCTGCCGGTAGTGGGC	0.612																																						dbGAP											0			11											39	42	41					11																	30033933		2108	4231	6339	29990509	SO:0001583	missense	0			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6222	protein-coding gene	gene with protein product		176266	"potassium voltage-gated channel, shaker-related subfamily, member 4-like"	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.293G>A	11.37:g.30033933C>T	ENSP00000328511:p.Arg98Gln	112	6.61	8					29990509	118	48.5	113		Missense_Mutation	SNP	HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,HMMPfam_K_channel_TID,superfamily_Voltage-gated potassium channels	p.R98Q	ENST00000328224.6	37	c.293	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688970	0.29962	.	.	ENSG00000182255	ENST00000328224	D	0.96940	-4.18	4.73	4.73	0.59995	.	.	.	.	.	D	0.89382	0.6699	N	0.14661	0.345	0.31141	N	0.706615	B	0.14438	0.01	B	0.04013	0.001	T	0.83056	-0.0150	9	0.15499	T	0.54	.	6.4799	0.22057	0.2354:0.6722:0.0:0.0924	.	98	P22459	KCNA4_HUMAN	Q	98	ENSP00000328511:R98Q	ENSP00000328511:R98Q	R	-	2	0	KCNA4	29990509	0.468000	0.25839	0.036000	0.18154	0.754000	0.42855	3.980000	0.56895	2.180000	0.69256	0.561000	0.74099	CGG	-	NULL		0.612	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	protein_coding	OTTHUMT00000388074.2	C	NM_002233		29990509	-1	no_errors	NM_002233.2	genbank	human	reviewed	54_36p	missense	SNP	0.941	T	T	30033933	C	T	30033933	3	4	112	1	0	0	0	0	1	0	0	0	8005	652	23	1	1672	1	KCNA4	11	30033933	Missense_Mutation	SNP	C	TCGA-AB-2920-03A-01W-0732-08		30033933	104972583	6	1256											
OR3A2	4995	genome.wustl.edu	37	17	3181502	3181502	+	Missense_Mutation	SNP	C	C	T	rs201997751		TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr17:3181502C>T	ENST00000408891.2	-	1	766	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	243					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						GGCCTTCTTTCGGCCCTCCAC	0.532													C|||	1	0.000199681	0	0	5008	,	,		21371	0		0.001	False		,,,				2504	0				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	dbGAP											0			17						C	GLN/ARG	0,4406		0,0,2203	53	56	55		728	1.8	1	17		55	6,8594	4.3+/-15.6	0,6,4294	yes	missense	OR3A2	NM_002551.3	43	0,6,6497	TT,TC,CC		0.0698,0.0,0.0461	probably-damaging	243/322	3181502	6,13000	2203	4300	6503	3128252	SO:0001583	missense	0			U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"GPCR / Class A : Olfactory receptors"	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.728G>A	17.37:g.3181502C>T	ENSP00000386180:p.Arg243Gln	69	0	0					3128252	175	11.88	24	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.R243Q	ENST00000408891.2	37	c.728	CCDS42233.1	17	5	0.0022893772893772895	4	0.008130081300813009	0	0.0	0	0.0	1	0.0013192612137203166	C	15.13	2.741226	0.49151	0.0	6.98E-4	ENSG00000221882	ENST00000408891	T	0.00311	8.15	4.9	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.282341	0.25219	N	0.032244	T	0.00356	0.0011	M	0.76838	2.35	0.19775	N	0.999957	D	0.71674	0.998	D	0.66351	0.943	T	0.47837	-0.9086	10	0.66056	D	0.02	-6.0729	5.3021	0.15783	0.1451:0.6151:0.0:0.2398	.	243	P47893	OR3A2_HUMAN	Q	243	ENSP00000386180:R243Q	ENSP00000386180:R243Q	R	-	2	0	OR3A2	3128252	0.000000	0.05858	0.956000	0.39512	0.037000	0.13140	0.212000	0.17497	0.355000	0.24131	0.561000	0.74099	CGA	-	HMMPfam_7tm_1,superfamily_SSF81321		0.532	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	protein_coding	OTTHUMT00000438370.1	C			3128252	-1	no_errors	NM_002551.3	genbank	human	validated	54_36p	missense	SNP	0.004	T	T	3181502	C	T	3181502	3	4	112	1	0	0	0	0	1	0	0	0	11038	884	31	1	241	1	OR3A2	17	3181502	Missense_Mutation	SNP	C	TCGA-AB-2920-03A-01W-0732-08		3181502	78013708	7	1257											
NF1	4763	genome.wustl.edu	37	17	29562747	29562747	+	Missense_Mutation	SNP	G	G	A	rs137854556		TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr17:29562747G>A	ENST00000358273.4	+	28	4210	c.3827G>A	c.(3826-3828)cGa>cAa	p.R1276Q	NF1_ENST00000356175.3_Missense_Mutation_p.R1276Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1276	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.		R -> G (in NF1; dbSNP:rs199474742). {ECO:0000269|PubMed:15060124}.|R -> P (in NF1; complete loss of GAP activity; dbSNP:rs137854556). {ECO:0000269|PubMed:10712197, ECO:0000269|PubMed:9668168}.|R -> Q (in NF1 and mismatch repair deficient cancer cells; dbSNP:rs137854556). {ECO:0000269|PubMed:10712197, ECO:0000269|PubMed:12522551, ECO:0000269|PubMed:15060124}.		actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.R1276Q(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTCTCTTCCGAGGCAACAGC	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(4)|Substitution - Missense(2)	soft_tissue(7)|large_intestine(2)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CM000802|CM983421	NF1	M	rs137854556						165	161	163					17																	29562747		2203	4300	6503	26586873	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3827G>A	17.37:g.29562747G>A	ENSP00000351015:p.Arg1276Gln	66	5.71	4		0	100	11	26586873	28	77.6	97	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP	p.R1276Q	ENST00000358273.4	37	c.3827	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.774352	0.96922	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	D;D;D	0.93133	-3.17;-3.17;-3.17	6.16	6.16	0.99307	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (3);	0.000000	0.85682	D	0.000000	D	0.98321	0.9443	H	0.97829	4.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.97110	1.0;1.0;0.964;1.0	D	0.98581	1.0650	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	1276;326;1276;1276	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	Q	1276;1276;942	ENSP00000351015:R1276Q;ENSP00000348498:R1276Q;ENSP00000389907:R942Q	ENSP00000348498:R1276Q	R	+	2	0	NF1	26586873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.212000	0.95126	2.937000	0.99478	0.650000	0.86243	CGA	-	HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	G	NM_000267		26586873	1	no_errors	NM_001042492.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	29562747	G	A	29562747	3	1	112	1	0	0	0	0	1	0	0	0	10356	1058	37	1	3998	1	NF1	17	29562747	Missense_Mutation	SNP	G	TCGA-AB-2920-03A-01W-0732-08	26381245	29562747	51632463	8	1258											
ARHGEF1	9138	genome.wustl.edu	37	19	42410133	42410133	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr19:42410133G>A	ENST00000354532.3	+	26	2595	c.2447G>A	c.(2446-2448)aGa>aAa	p.R816K	ARHGEF1_ENST00000599846.1_Missense_Mutation_p.R872K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R831K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R783K|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R798K|CTD-2575K13.6_ENST00000597630.1_RNA	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	816					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCCTTCTGCAGACCAGGCCCC	0.657																																						dbGAP											0			19											57	58	58					19																	42410133		2203	4300	6503	47101973	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"Rho guanine nucleotide exchange factors"	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2447G>A	19.37:g.42410133G>A	ENSP00000346532:p.Arg816Lys	36	5.26	2		275	43.44	212	47101973	43	35.71	25	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMSmart_PH,HMMPfam_RGS-like,superfamily_Regulat_G_prot_signal_superfam,superfamily_SSF50729	p.R831K	ENST00000354532.3	37	c.2492	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072842	0.76415	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.66099	-0.12;-0.08;-0.12;-0.19	4.1	3.04	0.35103	.	0.456471	0.18956	N	0.126526	T	0.45337	0.1337	L	0.29908	0.895	0.21064	N	0.999792	P;P;P;P	0.47191	0.66;0.891;0.891;0.826	B;P;P;B	0.45610	0.206;0.487;0.487;0.292	T	0.38779	-0.9645	10	0.06236	T	0.91	-4.2973	7.1294	0.25490	0.1251:0.0:0.8749:0.0	.	798;831;783;816	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	K	816;783;831;798	ENSP00000346532:R816K;ENSP00000344429:R783K;ENSP00000337261:R831K;ENSP00000367394:R798K	ENSP00000337261:R831K	R	+	2	0	ARHGEF1	47101973	0.998000	0.40836	0.997000	0.53966	0.998000	0.95712	1.810000	0.38932	2.008000	0.58898	0.550000	0.68814	AGA	-	NULL		0.657	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	protein_coding	OTTHUMT00000463360.1	G	NM_199002		47101973	1	no_errors	NM_199002.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	42410133	G	A	42410133	3	1	112	1	0	0	0	0	1	0	0	0	893	942	33	2	2594	2	ARHGEF1	19	42410133	Missense_Mutation	SNP	G	TCGA-AB-2920-03A-01W-0732-08		42410133	16718850	9	1259											
CBX7	23492	genome.wustl.edu	37	22	39534689	39534690	+	Frame_Shift_Ins	INS	-	-	GCTC			TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	-	-	-	GCTC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr22:39534689_39534690insGCTC	ENST00000216133.5	-	4	402_403	c.197_198insGAGC	c.(196-198)gcafs	p.-67fs	CBX7_ENST00000401405.3_Frame_Shift_Ins_p.-67fs|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7						chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					TATACCCCGATGCTCGGTCTCT	0.594																																					GBM(46;845 904 3560 9866 23971)	dbGAP											0			22																																								37864636	SO:0001589	frameshift_variant	0				CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.194_197dupGAGC	22.37:g.39534690_39534693dupGCTC	ENSP00000216133:p.Ser67fs								37864635				Q86T17	Frame_Shift_Ins	INS	HMMPfam_Chromo,HMMSmart_CHROMO,PatternScan_CHROMO_1,superfamily_Chromodomain-like	p.G68fs	ENST00000216133.5	37	c.198_197	CCDS13986.1	22																																																																																			-	NULL		0.594	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX7	protein_coding	OTTHUMT00000318020.1	-	NM_175709		37864636	-1	no_errors	NM_175709.3	genbank	human	validated	54_36p	frame_shift_ins	INS	0.981:0.999	GCTC	GCTC	39534690	-	GCTC	39534689	7	5	112	1	0	1	1	0	0	0	0	0	2723	1451	51	0	569	0	CBX7	22	39534689	Frame_Shift_Ins	INS	-	TCGA-AB-2920-03A-01W-0732-08		39534689	11769877	10	1260	6	2									
CBX7	23492	genome.wustl.edu	37	22	39534690	39534691	+	Frame_Shift_Ins	INS	-	-	GCTC			TCGA-AB-2920-03A-01W-0732-08	TCGA-AB-2920-11A-01W-0732-08	-	-	-	GCTC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	03508d3a-3bc2-4ec1-91cd-80a9f5aadad5	4ab04cad-cee0-4f9f-80b7-66d2472f5e31	g.chr22:39534690_39534691insGCTC	ENST00000216133.5	-	4	401_402	c.196_197insGAGC	c.(196-198)gcafs	p.-65fs	CBX7_ENST00000401405.3_Frame_Shift_Ins_p.-65fs|CBX7_ENST00000475962.1_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7						chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					ATACCCCGATGCTCGGTCTCTC	0.589																																					GBM(46;845 904 3560 9866 23971)	dbGAP											0			22																																								37864637	SO:0001589	frameshift_variant	0				CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.196_197insGAGC	22.37:g.39534690_39534691insGCTC	ENSP00000216133:p.Arg65fs								37864636				Q86T17	Frame_Shift_Ins	INS	HMMPfam_Chromo,HMMSmart_CHROMO,PatternScan_CHROMO_1,superfamily_Chromodomain-like	p.A66fs	ENST00000216133.5	37	c.197_196	CCDS13986.1	22																																																																																			-	NULL		0.589	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX7	protein_coding	OTTHUMT00000318020.1	-	NM_175709		37864637	-1	no_errors	NM_175709.3	genbank	human	validated	54_36p	frame_shift_ins	INS	0.999:1.000	GCTC	GCTC	39534691	-	GCTC	39534690	7	5	112	1	0	1	1	0	0	0	0	0	2723	1319	46	0	570	0	CBX7	22	39534690	Frame_Shift_Ins	INS	-	TCGA-AB-2920-03A-01W-0732-08	1	39534690	11769876	11	1261	6	2									
PLA2G2D	26279	genome.wustl.edu	37	1	20440642	20440642	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr1:20440642G>A	ENST00000375105.3	-	4	461	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	135					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTGGGGCCGCCAGTAGAAA	0.612										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)	dbGAP											0			1											35	36	36					1																	20440642		2203	4300	6503	20313229	SO:0001583	missense	0			AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.403C>T	1.37:g.20440642G>A	ENSP00000364246:p.Arg135Trp	58	7.81	5					20313229	43	44.44	36	A8K2Z1|B1AEL9|Q9UK01	Missense_Mutation	SNP	HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,PatternScan_PA2_HIS,PatternScan_PA2_ASP,superfamily_PhospholipaseA2	p.R135W	ENST00000375105.3	37	c.403	CCDS203.1	1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615604	0.46631	.	.	ENSG00000117215	ENST00000375105	T	0.12147	2.71	4.58	1.08	0.20341	Phospholipase A2 (3);	0.188867	0.26510	N	0.023972	T	0.15176	0.0366	M	0.79693	2.465	0.09310	N	1	B	0.33022	0.394	B	0.27608	0.081	T	0.13953	-1.0490	10	0.66056	D	0.02	-31.3348	7.0162	0.24889	0.1018:0.0:0.6679:0.2303	.	135	Q9UNK4	PA2GD_HUMAN	W	135	ENSP00000364246:R135W	ENSP00000364246:R135W	R	-	1	2	PLA2G2D	20313229	0.000000	0.05858	0.072000	0.20136	0.585000	0.36419	-0.270000	0.08584	0.274000	0.22072	0.462000	0.41574	CGG	-	HMMPfam_Phospholip_A2_1,HMMSmart_PA2c,superfamily_PhospholipaseA2		0.612	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2D	protein_coding	OTTHUMT00000007683.1	G			20313229	-1	no_errors	NM_012400.2	genbank	human	provisional	54_36p	missense	SNP	0.037	A	A	20440642	G	A	20440642	3	1	113	1	0	0	0	0	1	0	0	0	11997	1086	38	1	38	1	PLA2G2D	1	20440642	Missense_Mutation	SNP	G	TCGA-AB-2921-03A-01W-0755-09		20440642	228809979	1	1262											
MAGI3	260425	genome.wustl.edu	37	1	114123202	114123202	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr1:114123202G>A	ENST00000307546.9	+	3	547	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369617.4_Missense_Mutation_p.V158M|MAGI3_ENST00000369615.1_Missense_Mutation_p.V158M|MAGI3_ENST00000369611.4_Missense_Mutation_p.V158M	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	158	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTACCAGGAGTGGATTATAA	0.368																																						dbGAP											0			1											118	118	118					1																	114123202		2203	4300	6503	113924725	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.472G>A	1.37:g.114123202G>A	ENSP00000304604:p.Val158Met	211	3.17	7					113924725	119	38.34	74	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ,HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540	p.V158M	ENST00000307546.9	37	c.472	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.135864	0.94517	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.70789	0.3264	M	0.92880	3.355	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.77905	-0.2413	10	0.87932	D	0	-16.3033	19.7208	0.96143	0.0:0.0:1.0:0.0	.	158;158;158	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	M	158	ENSP00000358630:V158M;ENSP00000304604:V158M;ENSP00000358628:V158M;ENSP00000358624:V158M	ENSP00000304604:V158M	V	+	1	0	MAGI3	113924725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.384000	0.97219	2.730000	0.93505	0.650000	0.86243	GTG	-	HMMPfam_Guanylate_kin,HMMSmart_GuKc,PatternScan_GUANYLATE_KINASE_1,superfamily_SSF52540		0.368	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	protein_coding	OTTHUMT00000032429.1	G	NM_152900		113924725	1	no_errors	NM_152900.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	114123202	G	A	114123202	3	1	113	1	0	0	0	0	1	0	0	0	9192	1029	36	2	482	2	MAGI3	1	114123202	Missense_Mutation	SNP	G	TCGA-AB-2921-03A-01W-0755-09	93682560	114123202	135127419	2	1263											
APOB	338	genome.wustl.edu	37	2	21235446	21235446	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr2:21235446C>T	ENST00000233242.1	-	26	4421	c.4294G>A	c.(4294-4296)Gat>Aat	p.D1432N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1432					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATATTCGAATCTAGAAATTTG	0.363																																						dbGAP											0			2											83	88	87					2																	21235446		2201	4300	6501	21088951	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"Apolipoproteins"	603	protein-coding gene	gene with protein product		107730	"apolipoprotein B (including Ag(x) antigen)"				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4294G>A	2.37:g.21235446C>T	ENSP00000233242:p.Asp1432Asn	198	1.97	4					21088951	139	37.83	87	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	HMMPfam_Vitellogenin_N,HMMSmart_SM00638,HMMPfam_DUF1081,HMMPfam_DUF1943,superfamily_Lipovitellin-phosvitin complex beta-sheet shell regions,superfamily_Lipovitellin-phosvitin complex superhelical domain	p.D1432N	ENST00000233242.1	37	c.4294	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075482	0.36662	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00902	5.56	5.88	2.04	0.26737	.	0.362247	0.26665	N	0.023132	T	0.00998	0.0033	L	0.42245	1.32	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.58645	-0.7600	10	0.25751	T	0.34	.	6.5416	0.22382	0.0:0.5494:0.1342:0.3164	.	1432	P04114	APOB_HUMAN	N	1432	ENSP00000233242:D1432N	ENSP00000233242:D1432N	D	-	1	0	APOB	21088951	0.977000	0.34250	0.994000	0.49952	0.892000	0.51952	0.537000	0.23144	0.377000	0.24735	-0.137000	0.14449	GAT	-	NULL		0.363	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C			21088951	-1	no_errors	NM_000384.2	genbank	human	reviewed	54_36p	missense	SNP	0.542	T	T	21235446	C	T	21235446	3	4	113	1	0	0	0	0	1	0	0	0	785	913	32	2	9413	2	APOB	2	21235446	Missense_Mutation	SNP	C	TCGA-AB-2921-03A-01W-0755-09		21235446	221963927	3	1264											
NLRC4	58484	genome.wustl.edu	37	2	32463290	32463290	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr2:32463290A>G	ENST00000404025.2	-	7	2920	c.2432T>C	c.(2431-2433)aTa>aCa	p.I811T	NLRC4_ENST00000402280.1_Missense_Mutation_p.I811T|NLRC4_ENST00000360906.5_Missense_Mutation_p.I811T|NLRC4_ENST00000342905.6_Missense_Mutation_p.I146T			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	811					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGACTTGACTATGTAATCCAT	0.408																																						dbGAP											0			2											166	159	161					2																	32463290		2203	4300	6503	32316794	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"Nucleotide-binding domain and leucine rich repeat containing"	16412	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4", "NOD-like receptor C4"	606831	"caspase recruitment domain family, member 12"	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2432T>C	2.37:g.32463290A>G	ENSP00000385090:p.Ile811Thr	177	2.21	4		15	37.5	9	32316794	95	38.65	63	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	HMMPfam_CARD,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.I811T	ENST00000404025.2	37	c.2432	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	A	15.54	2.863712	0.51482	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	4.63	3.47	0.39725	.	0.000000	0.44688	D	0.000425	T	0.46034	0.1372	L	0.56769	1.78	0.31987	N	0.605152	B;B	0.29508	0.22;0.246	B;B	0.29942	0.101;0.109	T	0.57980	-0.7717	9	0.72032	D	0.01	-18.639	7.1611	0.25664	0.8983:0.0:0.1017:0.0	.	146;811	Q9NPP4-2;Q9NPP4	.;NLRC4_HUMAN	T	811;811;146;811	ENSP00000354159:I811T;ENSP00000385428:I811T;ENSP00000339666:I146T;ENSP00000385090:I811T	ENSP00000339666:I146T	I	-	2	0	NLRC4	32316794	0.986000	0.35501	0.868000	0.34077	0.904000	0.53231	2.912000	0.48782	0.914000	0.36822	-0.290000	0.09829	ATA	-	superfamily_RNI-like		0.408	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	protein_coding	OTTHUMT00000325222.2	A	NM_021209		32316794	-1	no_errors	NM_021209.3	genbank	human	validated	54_36p	missense	SNP	0.898	G	G	32463290	A	G	32463290	3	3	113	1	0	0	0	0	1	0	0	0	10469	449	16	3	658	3	NLRC4	2	32463290	Missense_Mutation	SNP	A	TCGA-AB-2921-03A-01W-0755-09	11227844	32463290	210736083	4	1265											
GPR128	84873	genome.wustl.edu	37	3	100373941	100373941	+	Missense_Mutation	SNP	G	G	A	rs368926208		TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr3:100373941G>A	ENST00000273352.3	+	12	1910	c.1642G>A	c.(1642-1644)Gct>Act	p.A548T	GPR128_ENST00000475887.1_Missense_Mutation_p.A253T|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	548					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CGCACTCAGCGCTGCACAGCT	0.453																																					Pancreas(87;185 1975 7223 18722)	dbGAP											0			3						G	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	166	150	156		1642	4.7	0.8	3		156	0,8600		0,0,4300	no	missense	GPR128	NM_032787.2	58	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	548/798	100373941	1,13005	2203	4300	6503	101856631	SO:0001583	missense	0			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"-", "GPCR / Class B : Orphans"	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1642G>A	3.37:g.100373941G>A	ENSP00000273352:p.Ala548Thr	164	1.8	3					101856631	90	43.29	71	Q14D94|Q86SQ2	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.A548T	ENST00000273352.3	37	c.1642	CCDS2938.1	3	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961367	0.34565	2.27E-4	0.0	ENSG00000144820	ENST00000273352;ENST00000475887	T;T	0.54071	0.59;0.59	5.59	4.69	0.59074	GPCR, family 2-like (1);	0.289256	0.29838	N	0.011076	T	0.70482	0.3229	M	0.89214	3.015	0.29653	N	0.84382	D;P	0.59767	0.986;0.941	P;B	0.57057	0.812;0.233	T	0.73209	-0.4055	10	0.72032	D	0.01	.	11.2079	0.48780	0.0:0.0:0.6272:0.3728	.	253;548	E9PHI0;Q96K78	.;GP128_HUMAN	T	548;253	ENSP00000273352:A548T;ENSP00000419788:A253T	ENSP00000273352:A548T	A	+	1	0	GPR128	101856631	0.979000	0.34478	0.795000	0.32087	0.050000	0.14768	1.546000	0.36179	1.294000	0.44707	0.655000	0.94253	GCT	-	HMMPfam_7tm_2		0.453	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	protein_coding	OTTHUMT00000353236.1	G			101856631	1	no_errors	NM_032787.1	genbank	human	provisional	54_36p	missense	SNP	0.890	A	A	100373941	G	A	100373941	3	1	113	1	0	0	0	0	1	0	0	0	6641	1087	38	1	1688	1	GPR128	3	100373941	Missense_Mutation	SNP	G	TCGA-AB-2921-03A-01W-0755-09		100373941	97648489	5	1266											
SYNPO2	171024	genome.wustl.edu	37	4	119952552	119952552	+	Silent	SNP	G	G	A			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr4:119952552G>A	ENST00000429713.2	+	4	2804	c.2622G>A	c.(2620-2622)caG>caA	p.Q874Q	SYNPO2_ENST00000434046.2_Silent_p.Q874Q|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000307142.4_Silent_p.Q874Q	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	874						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGAGCTCAGCTCTTTGCTA	0.542																																						dbGAP											0			4											127	126	126					4																	119952552		2203	4300	6503	120172000	SO:0001819	synonymous_variant	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2622G>A	4.37:g.119952552G>A		90	3.19	3					120172000	50	42.05	37	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Silent	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like	p.Q874	ENST00000429713.2	37	c.2622	CCDS47129.1	4	.	.	.	.	.	.	.	.	.	.	G	5.618	0.298770	0.10622	.	.	ENSG00000172403	ENST00000504178	.	.	.	5.76	4.02	0.46733	.	.	.	.	.	T	0.58935	0.2157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54268	-0.8319	4	.	.	.	-17.4686	8.9288	0.35657	0.2941:0.0:0.7059:0.0	.	.	.	.	T	826	.	.	A	+	1	0	SYNPO2	120172000	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.530000	0.36007	0.772000	0.33382	0.655000	0.94253	GCT	-	NULL		0.542	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	protein_coding	OTTHUMT00000364020.1	G			120172000	1	no_errors	NM_133477.1	genbank	human	validated	54_36p	silent	SNP	0.997	A	A	119952552	G	A	119952552	2	1	113	1	0	0	0	0	0	0	0	1	15454	962	34	2		2	SYNPO2	4	119952552	Silent	SNP	G	TCGA-AB-2921-03A-01W-0755-09		119952552	71201724	6	1267											
FLT3	2322	genome.wustl.edu	37	13	28608262	28608263	+	In_Frame_Ins	INS	-	-	CATATTCTCTGAAATCAACGTATC			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	-	-	-	CATATTCTCTGAAATCAACGTATC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr13:28608262_28608263insCATATTCTCTGAAATCAACGTATC	ENST00000241453.7	-	14	1874_1875	c.1793_1794insGATACGTTGATTTCAGAGAATATG	c.(1792-1794)gaa>gaGATACGTTGATTTCAGAGAATATGa	p.598_599insIR*FQRI*	FLT3_ENST00000537084.1_In_Frame_Ins_p.598_599insIR*FQRI*|FLT3_ENST00000380982.4_In_Frame_Ins_p.598_599insIR*FQRI*	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	598					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.597_598>DYVDFREY(1)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.E598_Y599ins14(1)|p.E598>DMISPEDMK(1)|p.E598_Y599insFYVDFREYE(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGATCATATTCATATTCTCT	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	6	Insertion - In frame(4)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(6)	13																																								27506263	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1793_1794insGATACGTTGATTTCAGAGAATATG	13.37:g.28608262_28608263insCATATTCTCTGAAATCAACGTATC	ENSP00000241453:p.Glu598_Tyr599insIleArg*PheGlnArgIle*								27506262				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.YDL599in_frame_insIR*	ENST00000241453.7	37	c.1794_1793	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506263	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.789:0.821	CATATTCTCTGAAATCAACGTATC	CATATTCTCTGAAATCAACGTATC	28608263	-	CATATTCTCTGAAATCAACGTATC	28608262	7	5	113	1	0	1	1	0	0	0	0	0	5942	1490	52	0	1231	0	FLT3	13	28608262	In_Frame_Ins	INS	-	TCGA-AB-2921-03A-01W-0755-09		28608262	86561616	7	1268											
GPX2	2877	genome.wustl.edu	37	14	65406527	65406527	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr14:65406527G>C	ENST00000389614.5	-	2	338	c.252C>G	c.(250-252)aaC>aaG	p.N84K	FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	84					interaction with symbiont (GO:0051702)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|response to oxidative stress (GO:0006979)|response to symbiotic bacterium (GO:0009609)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|glutathione peroxidase activity (GO:0004602)			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	ACTTGAGACTGTTCAGGATCT	0.512																																						dbGAP											0			14											61	58	59					14																	65406527		1962	4143	6105	64476280	SO:0001583	missense	0				CCDS41964.1	14q23.3	2012-05-22			ENSG00000176153	ENSG00000176153	1.11.1.9		4554	protein-coding gene	gene with protein product		138319				8428933, 8287691	Standard	NM_002083		Approved	GSHPX-GI	uc021ruq.2	P18283	OTTHUMG00000171677	ENST00000389614.5:c.252C>G	14.37:g.65406527G>C	ENSP00000374265:p.Asn84Lys	171	1.72	3		2	60	3	64476280	102	40.8	71	Q6PJ52|Q8WWI7|Q9NRP9	Missense_Mutation	SNP	HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2,superfamily_Thioredoxin-like	p.N84K	ENST00000389614.5	37	c.252	CCDS41964.1	14	.	.	.	.	.	.	.	.	.	.	G	1.593	-0.528652	0.04112	.	.	ENSG00000176153	ENST00000389614;ENST00000557049	T;T	0.21361	2.01;3.8	6.06	3.28	0.37604	Thioredoxin-like fold (2);	0.136921	0.45361	D	0.000368	T	0.11324	0.0276	L	0.31207	0.915	0.80722	D	1	B	0.30634	0.288	B	0.26969	0.075	T	0.09596	-1.0667	10	0.06236	T	0.91	0.7451	8.7318	0.34503	0.2922:0.0:0.7078:0.0	.	84	P18283	GPX2_HUMAN	K	84;28	ENSP00000374265:N84K;ENSP00000451721:N28K	ENSP00000374265:N84K	N	-	3	2	GPX2	64476280	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	1.599000	0.36751	0.462000	0.27095	-0.136000	0.14681	AAC	-	HMMPfam_GSHPx,superfamily_Thioredoxin-like		0.512	GPX2-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	GPX2	protein_coding	OTTHUMT00000414708.1	G			64476280	-1	pseudogene	NM_002083.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	65406527	G	C	65406527	3	2	113	1	0	0	0	0	1	0	0	0	6740	1368	48	4	324	4	GPX2	14	65406527	Missense_Mutation	SNP	G	TCGA-AB-2921-03A-01W-0755-09		65406527	41943013	8	1269											
EHD2	30846	genome.wustl.edu	37	19	48229440	48229440	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chr19:48229440C>T	ENST00000263277.3	+	4	1125	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	EHD2_ENST00000538399.1_Missense_Mutation_p.R156C|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	292					blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CGCAGCCTTGCGCAAGCTCAA	0.672																																						dbGAP											0			19											17	18	17					19																	48229440		2201	4296	6497	52921252	SO:0001583	missense	0			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"EF-hand domain containing"	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.874C>T	19.37:g.48229440C>T	ENSP00000263277:p.Arg292Cys	254	4.14	11		6	45.45	5	52921252	107	46.83	96	B2RDH9|B4DNU6|Q96CB6	Missense_Mutation	SNP	HMMSmart_SM00027,HMMPfam_Dynamin_N,PatternScan_EF_HAND_1,superfamily_EF-hand,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R292C	ENST00000263277.3	37	c.874	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361551	0.82353	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	D;D	0.95656	-3.77;-3.77	3.66	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.97829	0.9287	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98561	1.0641	10	0.87932	D	0	-29.6263	13.284	0.60232	0.0:1.0:0.0:0.0	.	292	Q9NZN4	EHD2_HUMAN	C	292;292;282;156	ENSP00000263277:R292C;ENSP00000439036:R156C	ENSP00000263277:R292C	R	+	1	0	EHD2	52921252	0.999000	0.42202	0.999000	0.59377	0.950000	0.60333	2.004000	0.40854	1.793000	0.52555	0.456000	0.33151	CGC	-	NULL		0.672	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	protein_coding	OTTHUMT00000465851.1	C			52921252	1	no_errors	NM_014601.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	48229440	C	T	48229440	3	4	113	1	0	0	0	0	1	0	0	0	4978	768	27	1	884	1	EHD2	19	48229440	Missense_Mutation	SNP	C	TCGA-AB-2921-03A-01W-0755-09		48229440	10899543	9	1270											
ZNF275	10838	genome.wustl.edu	37	X	152611033	152611033	+	Silent	SNP	A	A	G			TCGA-AB-2921-03A-01W-0755-09	TCGA-AB-2921-11A-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	779697fe-899a-4bfb-a1d3-44a847487b6b	927d14ba-cb7d-4d0d-9294-e328023db1b8	g.chrX:152611033A>G	ENST00000421401.3	+	3	264	c.87A>G	c.(85-87)ctA>ctG	p.L29L	ZNF275_ENST00000370249.2_5'UTR|ZNF275_ENST00000440091.1_Silent_p.L59L|ZNF275_ENST00000370251.3_Silent_p.L29L			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACAAGTGCTACTGGTGTCAG	0.502																																						dbGAP											0			X											98	97	97					X																	152611033		2144	4229	6373	152264227	SO:0001819	synonymous_variant	0			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"Zinc fingers, C2H2-type", "-"	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.87A>G	X.37:g.152611033A>G		96	2.97	3		0	100	6	152264227	81	43.15	63	A6NE92	Silent	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.L85	ENST00000421401.3	37	c.255		X																																																																																			-	HMMSmart_SM00349		0.502	ZNF275-201	KNOWN	basic	protein_coding	ZNF275	protein_coding		A	NM_001080485		152264227	1	no_errors	NM_001080485.2	genbank	human	validated	54_36p	silent	SNP	0.000	G	G	152611033	A	G	152611033	2	3	113	1	0	0	0	0	0	0	0	1	17807	378	14	3		3	ZNF275	23	152611033	Silent	SNP	A	TCGA-AB-2921-03A-01W-0755-09		152611033	2659527	10	1271											
ARID4B	51742	genome.wustl.edu	37	1	235345466	235345466	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr1:235345466T>A	ENST00000264183.3	-	20	3265	c.2768A>T	c.(2767-2769)gAt>gTt	p.D923V	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000366603.2_Missense_Mutation_p.D923V|ARID4B_ENST00000349213.3_Missense_Mutation_p.D837V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	923					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATCTTTTCGATCTTTGGCCCT	0.418																																						dbGAP											0			1											73	78	76					1																	235345466		2203	4299	6502	233412089	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"-"	15550	protein-coding gene	gene with protein product		609696	"retinoblastoma binding protein 1-like 1", "AT rich interactive domain 4B (RBP1- like)"	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2768A>T	1.37:g.235345466T>A	ENSP00000264183:p.Asp923Val	109	6.03	7					233412089	58	55.38	72	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,HMMSmart_SM00333,HMMPfam_RBB1NT	p.D923V	ENST00000264183.3	37	c.2768	CCDS31061.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.77|16.77	3.216111|3.216111	0.58452|0.58452	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.27890|.	1.64;1.67;1.67|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.048502|.	0.85682|.	D|.	0.000000|.	T|T	0.48874|0.48874	0.1524|0.1524	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.87578|.	0.998;0.997;0.998;0.994|.	T|T	0.46456|0.46456	-0.9190|-0.9190	10|5	0.72032|.	D|.	0.01|.	-19.0959|-19.0959	15.8361|15.8361	0.78799|0.78799	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	604;923;837;923|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	V|F	923;837;923;923|323	ENSP00000264184:D837V;ENSP00000355562:D923V;ENSP00000264183:D923V|.	ENSP00000264183:D923V|.	D|I	-|-	2|1	0|0	ARID4B|ARID4B	233412089|233412089	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.660000|4.660000	0.61511|0.61511	2.144000|2.144000	0.66660|0.66660	0.477000|0.477000	0.44152|0.44152	GAT|ATC	-	NULL		0.418	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	protein_coding	OTTHUMT00000095566.3	T	NM_016374		233412089	-1	no_errors	NM_016374.5	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	235345466	T	A	235345466	3	1	114	1	0	0	0	0	1	0	0	0	920	1435	50	5	1190	5	ARID4B	1	235345466	Missense_Mutation	SNP	T	TCGA-AB-2922-03A-01W-0745-08		235345466	13905155	1	1272											
CHIC2	26511	genome.wustl.edu	37	4	54880243	54880243	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr4:54880243C>T	ENST00000263921.3	-	4	763	c.374G>A	c.(373-375)aGg>aAg	p.R125K	CHIC2_ENST00000512964.1_Intron|FIP1L1_ENST00000507166.1_Intron	NM_012110.3	NP_036242.1	Q9UKJ5	CHIC2_HUMAN	cysteine-rich hydrophobic domain 2	125						Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_cancers(7;0.0193)|all_neural(26;0.0209)|Lung NSC(11;0.0281)|Glioma(25;0.08)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GTGGTATAACCTATTGTTTTC	0.368			T	ETV6	AML																																	dbGAP		Dom	yes		4	4q11-q12	26511	cysteine-rich hydrophobic domain 2		L	0			4											141	123	129					4																	54880243		2202	4300	6502	54575000	SO:0001583	missense	0			AF159423	CCDS3493.1	4q12	2013-09-04			ENSG00000109220	ENSG00000109220			1935	protein-coding gene	gene with protein product		604332				10477709	Standard	NM_012110		Approved	BTL	uc003haj.2	Q9UKJ5	OTTHUMG00000102101	ENST00000263921.3:c.374G>A	4.37:g.54880243C>T	ENSP00000263921:p.Arg125Lys	74	15.91	14					54575000	39	57.61	53	B2R639	Missense_Mutation	SNP	HMMPfam_Erf4	p.R125K	ENST00000263921.3	37	c.374	CCDS3493.1	4	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753251	0.69648	.	.	ENSG00000109220	ENST00000263921	.	.	.	5.44	5.44	0.79542	Golgin subfamily A member 7/ERF4 (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	L	0.48642	1.525	0.80722	D	1	P	0.36712	0.566	B	0.40702	0.338	T	0.55823	-0.8080	9	0.20046	T	0.44	.	19.2629	0.93975	0.0:1.0:0.0:0.0	.	125	Q9UKJ5	CHIC2_HUMAN	K	125	.	ENSP00000263921:R125K	R	-	2	0	CHIC2	54575000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.551000	0.86045	0.650000	0.86243	AGG	-	HMMPfam_Erf4		0.368	CHIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC2	protein_coding	OTTHUMT00000219937.2	C			54575000	-1	no_errors	NM_012110.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	54880243	C	T	54880243	3	4	114	1	0	0	0	0	1	0	0	0	3344	681	24	2	135	2	CHIC2	4	54880243	Missense_Mutation	SNP	C	TCGA-AB-2922-03A-01W-0745-08		54880243	136274033	2	1273											
FAT4	79633	genome.wustl.edu	37	4	126336627	126336627	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr4:126336627G>A	ENST00000394329.3	+	5	6522	c.6509G>A	c.(6508-6510)gGa>gAa	p.G2170E	FAT4_ENST00000335110.5_Missense_Mutation_p.G468E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2170	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACACTTACTGGAACAGATATA	0.388																																						dbGAP											0			4											131	120	124					4																	126336627		2203	4300	6503	126556077	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"Cadherins / Cadherin-related"	23109	protein-coding gene	gene with protein product	"cadherin-related family member 11"	612411	"FAT tumor suppressor homolog 4 (Drosophila)"			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6509G>A	4.37:g.126336627G>A	ENSP00000377862:p.Gly2170Glu	44	0	0					126556077	41	36.92	24	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_EGF_CA,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,superfamily_Cadherin,PatternScan_EGF_CA,superfamily_SSF57196	p.G2170E	ENST00000394329.3	37	c.6509	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872207	0.72180	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.69435	-0.4;-0.4	5.6	5.6	0.85130	Cadherin (3);Cadherin-like (1);	0.000000	0.33959	U	0.004399	D	0.87669	0.6235	H	0.94462	3.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90606	0.4548	10	0.87932	D	0	.	19.6316	0.95708	0.0:0.0:1.0:0.0	.	468;2170	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	E	2170;468	ENSP00000377862:G2170E;ENSP00000335169:G468E	ENSP00000335169:G468E	G	+	2	0	FAT4	126556077	1.000000	0.71417	0.816000	0.32577	0.484000	0.33280	9.666000	0.98612	2.642000	0.89623	0.557000	0.71058	GGA	-	HMMPfam_Cadherin,superfamily_Cadherin		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	G	NM_024582		126556077	1	no_errors	NM_024582.4	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	126336627	G	A	126336627	3	1	114	1	0	0	0	0	1	0	0	0	5692	1174	41	2	6527	2	FAT4	4	126336627	Missense_Mutation	SNP	G	TCGA-AB-2922-03A-01W-0745-08	71456384	126336627	64817649	3	1274											
MAP1B	4131	genome.wustl.edu	37	5	71495656	71495656	+	Silent	SNP	C	C	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr5:71495656C>A	ENST00000296755.7	+	5	6772	c.6474C>A	c.(6472-6474)acC>acA	p.T2158T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2158					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATCCCAGACCGACTCTGATG	0.592																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											0			5											94	84	87					5																	71495656		2203	4300	6503	71531412	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6474C>A	5.37:g.71495656C>A		102	9.73	11					71531412	94	48.63	89	A2BDK5	Silent	SNP	HMMPfam_MAP1B_neuraxin,PatternScan_MAP1B_NEURAXIN	p.T2158	ENST00000296755.7	37	c.6474	CCDS4012.1	5																																																																																			-	NULL		0.592	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	C	NM_005909		71531412	1	no_errors	NM_005909.3	genbank	human	validated	54_36p	silent	SNP	0.567	A	A	71495656	C	A	71495656	2	1	114	1	0	0	0	0	0	0	0	1	9228	639	23	4		4	MAP1B	5	71495656	Silent	SNP	C	TCGA-AB-2922-03A-01W-0745-08		71495656	109419604	4	1275											
VCAN	1462	genome.wustl.edu	37	5	82833058	82833058	+	Silent	SNP	T	T	C			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr5:82833058T>C	ENST00000265077.3	+	8	4801	c.4236T>C	c.(4234-4236)aaT>aaC	p.N1412N	VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Silent_p.N425N|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1412	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGTACATAAATGGGAAGCATC	0.458																																						dbGAP											0			5											45	47	46					5																	82833058		2203	4300	6503	82868814	SO:0001819	synonymous_variant	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.4236T>C	5.37:g.82833058T>C		103	14.88	18					82868814	77	54.44	92	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMSmart_SM00179,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin	p.N1412	ENST00000265077.3	37	c.4236	CCDS4060.1	5																																																																																			-	NULL		0.458	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	protein_coding	OTTHUMT00000254092.3	T	NM_004385		82868814	1	no_errors	NM_004385.1	genbank	human	validated	54_36p	silent	SNP	0.996	C	C	82833058	T	C	82833058	2	2	114	1	0	0	0	0	0	0	0	1	17135	1461	51	3		3	VCAN	5	82833058	Silent	SNP	T	TCGA-AB-2922-03A-01W-0745-08	11337402	82833058	98082202	5	1276											
PCDHB1	29930	genome.wustl.edu	37	5	140433195	140433195	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr5:140433195G>A	ENST00000306549.3	+	1	2217	c.2140G>A	c.(2140-2142)Gtc>Atc	p.V714I		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	714					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTATACATGTCTACCAAAA	0.348																																						dbGAP											0			5											105	109	108					5																	140433195		2203	4300	6503	140413379	SO:0001583	missense	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"Cadherins / Protocadherins : Clustered"	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2140G>A	5.37:g.140433195G>A	ENSP00000307234:p.Val714Ile	82	11.83	11					140413379	71	44.53	57	Q2M257	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.V714I	ENST00000306549.3	37	c.2140	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	G	7.237	0.600588	0.13939	.	.	ENSG00000171815	ENST00000306549	T	0.12879	2.64	5.91	0.413	0.16401	.	0.461817	0.17620	N	0.167760	T	0.03390	0.0098	N	0.00707	-1.245	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.38845	-0.9642	10	0.48119	T	0.1	.	6.0484	0.19772	0.4009:0.4383:0.1608:0.0	.	714	Q9Y5F3	PCDB1_HUMAN	I	714	ENSP00000307234:V714I	ENSP00000307234:V714I	V	+	1	0	PCDHB1	140413379	0.916000	0.31088	0.981000	0.43875	0.816000	0.46133	1.185000	0.32065	0.120000	0.18254	-0.302000	0.09304	GTC	-	NULL		0.348	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	protein_coding	OTTHUMT00000251822.2	G	NM_013340		140413379	1	no_errors	NM_013340.2	genbank	human	reviewed	54_36p	missense	SNP	0.032	A	A	140433195	G	A	140433195	3	1	114	1	0	0	0	0	1	0	0	0	11534	1377	48	2	2142	2	PCDHB1	5	140433195	Missense_Mutation	SNP	G	TCGA-AB-2922-03A-01W-0745-08	57600137	140433195	40482065	6	1277											
PLG	5340	genome.wustl.edu	37	6	161135860	161135860	+	Silent	SNP	C	C	T	rs145192723	byFrequency	TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr6:161135860C>T	ENST00000308192.9	+	6	645	c.582C>T	c.(580-582)gaC>gaT	p.D194D		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	194	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AAAACTATGACGGCAAAATTT	0.473													C|||	13	0.00259585	0.0083	0	5008	,	,		19876	0.001		0.001	False		,,,				2504	0					dbGAP											0			6						C		34,4372	39.2+/-71.8	0,34,2169	74	72	73		582	-4.6	1	6	dbSNP_134	73	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	PLG	NM_000301.3		0,36,6467	TT,TC,CC		0.0233,0.7717,0.2768		194/811	161135860	36,12970	2203	4300	6503	161055850	SO:0001819	synonymous_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.582C>T	6.37:g.161135860C>T		69	9.21	7					161055850	51	60.77	79	Q15146|Q5TEH4|Q6PA00	Silent	SNP	HMMPfam_Kringle,HMMSmart_KR,HMMPfam_Trypsin,HMMSmart_Tryp_SPc,HMMPfam_PAN_1,HMMSmart_PAN_AP,superfamily_Pept_Ser_Cys,superfamily_Kringle-like,PatternScan_KRINGLE_1,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_SSF57414	p.D194	ENST00000308192.9	37	c.582	CCDS5279.1	6																																																																																			-	HMMPfam_Kringle,HMMSmart_KR,superfamily_Kringle-like		0.473	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	protein_coding	OTTHUMT00000042959.2	C	NM_000301		161055850	1	no_errors	NM_000301.2	genbank	human	validated	54_36p	silent	SNP	0.917	T	T	161135860	C	T	161135860	2	4	114	1	0	0	0	0	0	0	0	1	12086	535	19	1		1	PLG	6	161135860	Silent	SNP	C	TCGA-AB-2922-03A-01W-0745-08		161135860	9979207	7	1278											
KCNU1	157855	genome.wustl.edu	37	8	36776389	36776389	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr8:36776389G>A	ENST00000399881.3	+	23	2607	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	857					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCAAACTGCCGAAAAGTCCCT	0.358																																						dbGAP											0			8											120	112	114					8																	36776389		1835	4092	5927	36895547	SO:0001583	missense	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2570G>A	8.37:g.36776389G>A	ENSP00000382770:p.Arg857Gln	140	9.68	15					36895547	138	39.83	92		Missense_Mutation	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324	p.R857Q	ENST00000399881.3	37	c.2570	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	6.841	0.524388	0.13066	.	.	ENSG00000215262	ENST00000399881	T	0.41400	1.0	5.6	-0.441	0.12257	.	.	.	.	.	T	0.17066	0.0410	N	0.03115	-0.41	0.35949	D	0.833778	B	0.26002	0.139	B	0.12156	0.007	T	0.13926	-1.0491	9	0.29301	T	0.29	-0.8981	9.508	0.39060	0.6145:0.0:0.3855:0.0	.	857	A8MYU2	KCNU1_HUMAN	Q	857	ENSP00000382770:R857Q	ENSP00000382770:R857Q	R	+	2	0	KCNU1	36895547	0.248000	0.23930	0.027000	0.17364	0.003000	0.03518	0.356000	0.20181	-0.078000	0.12730	-0.794000	0.03295	CGA	-	NULL		0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36895547	1	no_errors	NM_001031836.2	genbank	human	validated	54_36p	missense	SNP	0.781	A	A	36776389	G	A	36776389	3	1	114	1	0	0	0	0	1	0	0	0	8093	1058	37	1	2660	1	KCNU1	8	36776389	Missense_Mutation	SNP	G	TCGA-AB-2922-03A-01W-0745-08		36776389	109587633	8	1279											
MTA2	9219	genome.wustl.edu	37	11	62364125	62364125	+	Missense_Mutation	SNP	T	T	C	rs377278798		TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr11:62364125T>C	ENST00000278823.2	-	9	1255	c.866A>G	c.(865-867)gAt>gGt	p.D289G	MTA2_ENST00000527204.1_Missense_Mutation_p.D116G|MTA2_ENST00000524902.1_Missense_Mutation_p.D116G	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	289	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CTGGCGAATATCATTGAAGTC	0.542																																						dbGAP											0			11						T	GLY/ASP	1,4403	2.1+/-5.4	0,1,2201	99	99	99		866	5.7	1	11		99	0,8598		0,0,4299	no	missense	MTA2	NM_004739.3	94	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging	289/669	62364125	1,13001	2202	4299	6501	62120701	SO:0001583	missense	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"GATA zinc finger domain containing"	7411	protein-coding gene	gene with protein product		603947	"metastasis associated gene family, member 2"	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.866A>G	11.37:g.62364125T>C	ENSP00000278823:p.Asp289Gly	283	11.21	36					62120701	161	40.15	108	Q68DB1|Q9UQB5	Missense_Mutation	SNP	HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,HMMPfam_ELM2,HMMSmart_SANT,HMMPfam_BAH,HMMSmart_BAH,HMMPfam_Myb_DNA-binding,superfamily_SSF57716	p.D289G	ENST00000278823.2	37	c.866	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	T	20.9	4.065994	0.76187	2.27E-4	0.0	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.41065	1.01;1.01;1.01	5.69	5.69	0.88448	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.65975	2.015	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.64394	-0.6418	10	0.59425	D	0.04	-18.9992	13.8893	0.63729	0.0:0.0:0.0:1.0	.	289	O94776	MTA2_HUMAN	G	289;116;116	ENSP00000278823:D289G;ENSP00000431346:D116G;ENSP00000431797:D116G	ENSP00000278823:D289G	D	-	2	0	MTA2	62120701	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	8.040000	0.89188	2.163000	0.67991	0.459000	0.35465	GAT	-	HMMSmart_SANT,HMMPfam_Myb_DNA-binding		0.542	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	protein_coding	OTTHUMT00000395578.1	T	NM_004739		62120701	-1	no_errors	NM_004739.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	62364125	T	C	62364125	3	2	114	1	0	0	0	0	1	0	0	0	9909	1435	50	3	1180	3	MTA2	11	62364125	Missense_Mutation	SNP	T	TCGA-AB-2922-03A-01W-0745-08		62364125	72642391	9	1280											
CBX5	23468	genome.wustl.edu	37	12	54651313	54651313	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr12:54651313C>T	ENST00000439541.2	-	2	247	c.122G>A	c.(121-123)tGg>tAg	p.W41*	CBX5_ENST00000550411.1_Nonsense_Mutation_p.W41*|CBX5_ENST00000209875.4_Nonsense_Mutation_p.W41*|RN7SL390P_ENST00000470634.2_RNA	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	41	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						AAAGCCTTTCCACTTCAGTAG	0.448																																					Colon(153;588 2459 18334 48613)	dbGAP											0			12											145	137	140					12																	54651313		2203	4300	6503	52937580	SO:0001587	stop_gained	0			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"HP1 alpha homolog (Drosophila)"	604478	"chromobox homolog 5 (Drosophila HP1 alpha)", "chromobox homolog 5 (HP1 alpha homolog, Drosophila)"			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.122G>A	12.37:g.54651313C>T	ENSP00000401009:p.Trp41*	65	16.67	13					52937580	90	44.1	71	B2R8T9	Nonsense_Mutation	SNP	HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,HMMPfam_Chromo_shadow,superfamily_Chromo domain-like,HMMSmart_SM00300	p.W41*	ENST00000439541.2	37	c.122	CCDS8875.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.077524	0.98048	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3407	17.2626	0.87075	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000209875:W41X	W	-	2	0	CBX5	52937580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.446000	0.80609	2.941000	0.99782	0.655000	0.94253	TGG	-	HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,superfamily_Chromo domain-like		0.448	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CBX5	protein_coding	OTTHUMT00000405468.1	C	NM_012117		52937580	-1	no_errors	NM_012117.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	54651313	C	T	54651313	4	4	114	1	0	0	0	0	0	1	0	0	2721	595	21	2	469	2	CBX5	12	54651313	Nonsense_Mutation	SNP	C	TCGA-AB-2922-03A-01W-0745-08		54651313	79200582	10	1281											
FLT3	2322	genome.wustl.edu	37	13	28608275	28608276	+	In_Frame_Ins	INS	-	-	AATCAACGTAGAAGTACTCATTATCTTCCGGGG			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	-	-	-	AATCAACGTAGAAGTACTCATTATCTTCCGGGG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr13:28608275_28608276insAATCAACGTAGAAGTACTCATTATCTTCCGGGG	ENST00000241453.7	-	14	1861_1862	c.1780_1781insCCCCGGAAGATAATGAGTACTTCTACGTTGATT	c.(1780-1782)ttc>tCCCCGGAAGATAATGAGTACTTCTACGTTGATTtc	p.593_594insSPEDNEYFYVD	FLT3_ENST00000380982.4_In_Frame_Ins_p.593_594insSPEDNEYFYVD|FLT3_ENST00000537084.1_In_Frame_Ins_p.593_594insSPEDNEYFYVD	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	593	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F594I(2)|p.F590_F594>L(1)|p.593_594>WGYFYVD(1)|p.D593_F594ins16(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATATTCTCTGAAATCAACGTAG	0.386			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Substitution - Missense(2)|Insertion - In frame(1)|Complex - deletion inframe(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506276	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1781insCCCCGGAAGATAATGAGTACTTCTACGTTGATT	13.37:g.28608275_28608276insAATCAACGTAGAAGTACTCATTATCTTCCGGGG	ENSP00000241453:p.Asp593_Phe594insSerProGluAspAsnGluTyrPheTyrValAsp								27506275				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.594in_frame_insSPEDNEYFYVD	ENST00000241453.7	37	c.1781_1780	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.386	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506276	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	AATCAACGTAGAAGTACTCATTATCTTCCGGGG	AATCAACGTAGAAGTACTCATTATCTTCCGGGG	28608276	-	AATCAACGTAGAAGTACTCATTATCTTCCGGGG	28608275	7	5	114	1	0	1	1	0	0	0	0	0	5942	246	9	0	1244	0	FLT3	13	28608275	In_Frame_Ins	INS	-	TCGA-AB-2922-03A-01W-0745-08		28608275	86561603	11	1282											
KCNK13	56659	genome.wustl.edu	37	14	90651249	90651249	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr14:90651249C>A	ENST00000282146.4	+	2	1570	c.1129C>A	c.(1129-1131)Cag>Aag	p.Q377K		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	377					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CTGCCCCCACCAGACCAGCAC	0.577																																						dbGAP											0			14											18	20	19					14																	90651249		2192	4282	6474	89721002	SO:0001583	missense	0			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"Potassium channels", "Voltage-gated ion channels / Potassium channels, Two-P"	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.1129C>A	14.37:g.90651249C>A	ENSP00000282146:p.Gln377Lys	16	5.88	1					89721002	24	41.46	17	B5TJL8|Q96E79	Missense_Mutation	SNP	HMMPfam_Ion_trans_2,superfamily_Voltage-gated potassium channels	p.Q377K	ENST00000282146.4	37	c.1129	CCDS9889.1	14	.	.	.	.	.	.	.	.	.	.	C	5.669	0.308122	0.10733	.	.	ENSG00000152315	ENST00000282146	T	0.46451	0.87	5.12	4.23	0.50019	.	1.534090	0.04255	N	0.339319	T	0.48169	0.1485	M	0.76574	2.34	0.51233	D	0.999911	B	0.18310	0.027	B	0.14023	0.01	T	0.38001	-0.9681	10	0.14252	T	0.57	.	13.7404	0.62845	0.0:0.9251:0.0:0.0749	.	377	Q9HB14	KCNKD_HUMAN	K	377	ENSP00000282146:Q377K	ENSP00000282146:Q377K	Q	+	1	0	KCNK13	89721002	0.806000	0.28996	0.228000	0.23943	0.125000	0.20455	2.630000	0.46494	1.287000	0.44583	0.655000	0.94253	CAG	-	NULL		0.577	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK13	protein_coding	OTTHUMT00000411251.1	C	NM_022054		89721002	1	no_errors	NM_022054.2	genbank	human	reviewed	54_36p	missense	SNP	0.625	A	A	90651249	C	A	90651249	3	1	114	1	0	0	0	0	1	0	0	0	8061	595	21	4	1135	4	KCNK13	14	90651249	Missense_Mutation	SNP	C	TCGA-AB-2922-03A-01W-0745-08		90651249	16698291	12	1283											
NECAB2	54550	genome.wustl.edu	37	16	84027969	84027969	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr16:84027969C>T	ENST00000305202.4	+	7	676	c.659C>T	c.(658-660)gCc>gTc	p.A220V	NECAB2_ENST00000567703.1_3'UTR|NECAB2_ENST00000565691.1_Missense_Mutation_p.A137V	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	220						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						CCCACTCCCGCCTCTGCCCCC	0.612																																						dbGAP											0			16											56	55	55					16																	84027969		2200	4300	6500	82585470	SO:0001583	missense	0			AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"N-terminal EF-hand calcium binding proteins", "EF-hand domain containing"	23746	protein-coding gene	gene with protein product			"EF-hand calcium binding protein 2"	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.659C>T	16.37:g.84027969C>T	ENSP00000307449:p.Ala220Val	40	4.76	2					82585470	51	48.48	48	A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	HMMSmart_EFh,HMMPfam_ABM,superfamily_Dimer_A_B_barrel,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473	p.A220V	ENST00000305202.4	37	c.659	CCDS10940.1	16	.	.	.	.	.	.	.	.	.	.	C	9.476	1.096946	0.20552	.	.	ENSG00000103154	ENST00000305202	T	0.18016	2.24	4.58	0.965	0.19661	.	0.688531	0.14784	N	0.298607	T	0.07818	0.0196	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.31586	-0.9938	10	0.38643	T	0.18	-8.317	7.6355	0.28264	0.0:0.4244:0.4729:0.1027	.	220	Q7Z6G3	NECA2_HUMAN	V	220	ENSP00000307449:A220V	ENSP00000307449:A220V	A	+	2	0	NECAB2	82585470	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	0.374000	0.20501	0.462000	0.27095	-0.150000	0.13652	GCC	-	NULL		0.612	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB2	protein_coding	OTTHUMT00000269077.2	C	NM_019065		82585470	1	no_errors	NM_019065.2	genbank	human	provisional	54_36p	missense	SNP	0.001	T	T	84027969	C	T	84027969	3	4	114	1	0	0	0	0	1	0	0	0	10305	739	26	2	685	2	NECAB2	16	84027969	Missense_Mutation	SNP	C	TCGA-AB-2922-03A-01W-0745-08		84027969	6326784	13	1284											
KIAA1683	80726	genome.wustl.edu	37	19	18376111	18376112	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AB-2922-03A-01W-0745-08	TCGA-AB-2922-11A-01W-0745-08	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0eb1f4d2-4a5e-4faf-9652-d90f21cc03c8	61430182-d37f-40e8-a096-0cb3cb7b8d7b	g.chr19:18376111_18376112insC	ENST00000600328.3	-	3	2431_2432	c.2238_2239insG	c.(2236-2241)gggcagfs	p.Q747fs	KIAA1683_ENST00000392413.4_Frame_Shift_Ins_p.Q747fs|KIAA1683_ENST00000600359.3_Frame_Shift_Ins_p.Q701fs			Q9H0B3	K1683_HUMAN	KIAA1683	747						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTGATCGGCTGCCCCCGGGACT	0.604																																						dbGAP											0			19																																								18237112	SO:0001589	frameshift_variant	0			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2239dupG	19.37:g.18376116_18376116dupC	ENSP00000470780:p.Gln747fs	14	0	0					18237111	44	37.14	26	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Frame_Shift_Ins	INS	HMMPfam_IQ,HMMSmart_SM00015,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q746fs	ENST00000600328.3	37	c.2239_2238	CCDS32958.1	19																																																																																			-	NULL		0.604	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	protein_coding	OTTHUMT00000466312.3	-			18237112	-1	no_errors	NM_025249.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.000:0.000	C	C	18376112	-	C	18376111	7	5	114	1	0	1	1	0	0	0	0	0	8251	1328	46	0	1872	0	KIAA1683	19	18376111	Frame_Shift_Ins	INS	-	TCGA-AB-2922-03A-01W-0745-08		18376111	40752872	14	1285											
NRAS	4893	genome.wustl.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	1016	Substitution - Missense(1016)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	1											180	156	164					1																	115256529		2203	4300	6503	115058052	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	97	2	2					115058052	73	16.09	14	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q61R	ENST00000369535.4	37	c.182	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	T	NM_002524		115058052	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	115256529	T	C	115256529	3	2	115	1	0	0	0	0	1	0	0	0	10640	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-AB-2923-03A-01W-0745-08		115256529	133994092	1	1286											
CGN	57530	genome.wustl.edu	37	1	151506464	151506464	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr1:151506464G>A	ENST00000271636.7	+	15	2889	c.2756G>A	c.(2755-2757)cGg>cAg	p.R919Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	913					transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CAGAGGCTGCGGCAGGCCCTG	0.632																																						dbGAP											0			1											31	34	33					1																	151506464		2136	4191	6327	149773088	SO:0001583	missense	0			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.2756G>A	1.37:g.151506464G>A	ENSP00000271636:p.Arg919Gln	44	2.22	1					149773088	25	46.81	22	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	HMMPfam_Myosin_tail_1	p.R919Q	ENST00000271636.7	37	c.2756	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.505819	0.85282	.	.	ENSG00000143375	ENST00000271636	T	0.79845	-1.31	5.25	5.25	0.73442	Myosin tail (1);	0.056947	0.64402	D	0.000002	T	0.67850	0.2937	N	0.11818	0.18	0.38789	D	0.954935	D	0.69078	0.997	P	0.61477	0.889	T	0.72276	-0.4341	10	0.37606	T	0.19	-30.7645	8.1863	0.31341	0.1689:0.0:0.8311:0.0	.	913	Q9P2M7	CING_HUMAN	Q	919	ENSP00000271636:R919Q	ENSP00000271636:R919Q	R	+	2	0	CGN	149773088	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	6.030000	0.70903	2.457000	0.83068	0.563000	0.77884	CGG	-	NULL		0.632	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	protein_coding	OTTHUMT00000034900.3	G	NM_020770		149773088	1	no_errors	NM_020770.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	151506464	G	A	151506464	3	1	115	1	0	0	0	0	1	0	0	0	3303	1116	39	1	2810	1	CGN	1	151506464	Missense_Mutation	SNP	G	TCGA-AB-2923-03A-01W-0745-08	36249935	151506464	97744157	2	1287											
CR1	1378	genome.wustl.edu	37	1	207785328	207785328	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr1:207785328G>A	ENST00000367049.4	+	39	6517	c.6517G>A	c.(6517-6519)Gtg>Atg	p.V2173M	CR1_ENST00000400960.2_Missense_Mutation_p.V1723M|CR1_ENST00000367053.1_Missense_Mutation_p.V1723M|CR1_ENST00000367052.1_Missense_Mutation_p.V1723M|CR1_ENST00000367051.1_Missense_Mutation_p.V1723M	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1723					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCATGGCCGTGTGCTACTTCC	0.488																																						dbGAP											0			1											288	275	279					1																	207785328		1945	4141	6086	205851951	SO:0001583	missense	0			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"CD molecules", "Blood group antigens", "Complement system"	2334	protein-coding gene	gene with protein product		120620	"complement component (3b/4b) receptor 1, including Knops blood group system"			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6517G>A	1.37:g.207785328G>A	ENSP00000356016:p.Val2173Met	59	4.76	3					205851951	37	51.32	39	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain	p.V2173M	ENST00000367049.4	37	c.6517	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	G	9.541	1.113454	0.20795	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	3.21	2.3	0.28687	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.77798	0.4184	M	0.74647	2.275	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.988	T	0.63056	-0.6722	9	0.66056	D	0.02	.	6.4206	0.21742	0.1359:0.0:0.8641:0.0	.	1723;2173	P17927;E9PDY4	CR1_HUMAN;.	M	1723;1723;1723;1723;2173	ENSP00000356019:V1723M;ENSP00000356018:V1723M;ENSP00000356020:V1723M;ENSP00000383744:V1723M;ENSP00000356016:V2173M	ENSP00000356016:V2173M	V	+	1	0	CR1	205851951	0.328000	0.24687	0.004000	0.12327	0.211000	0.24417	1.637000	0.37155	0.910000	0.36722	0.511000	0.50034	GTG	-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.488	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	protein_coding	OTTHUMT00000382527.1	G	NM_000573		205851951	1	no_errors	NM_000651.3	genbank	human	reviewed	54_36p	missense	SNP	0.019	A	A	207785328	G	A	207785328	3	1	115	1	0	0	0	0	1	0	0	0	3840	1377	48	2	6671	2	CR1	1	207785328	Missense_Mutation	SNP	G	TCGA-AB-2923-03A-01W-0745-08	56278864	207785328	41465293	3	1288											
RNF25	64320	genome.wustl.edu	37	2	219533395	219533395	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr2:219533395G>T	ENST00000295704.2	-	2	489	c.49C>A	c.(49-51)Ccc>Acc	p.P17T		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	17					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCAGAGGGAAGGACCCTA	0.463																																						dbGAP											0			2											120	125	123					2																	219533395		2203	4300	6503	219241639	SO:0001583	missense	0				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"RING-type (C3HC4) zinc fingers"	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.49C>A	2.37:g.219533395G>T	ENSP00000295704:p.Pro17Thr	74	0	0					219241639	54	41.94	39	A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	HMMSmart_SM00184,HMMPfam_RWD,HMMSmart_SM00591,superfamily_UBC-like,HMMPfam_zf-C3HC4,superfamily_RING/U-box	p.P17T	ENST00000295704.2	37	c.49	CCDS2420.1	2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688508	0.29962	.	.	ENSG00000163481	ENST00000295704	T	0.41065	1.01	5.41	5.41	0.78517	.	0.291574	0.39020	N	0.001491	T	0.45617	0.1351	N	0.16567	0.415	0.42726	D	0.993692	D	0.59767	0.986	D	0.68621	0.959	T	0.25012	-1.0144	10	0.23891	T	0.37	-14.2993	14.5887	0.68347	0.0:0.1458:0.8542:0.0	.	17	Q96BH1	RNF25_HUMAN	T	17	ENSP00000295704:P17T	ENSP00000295704:P17T	P	-	1	0	RNF25	219241639	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.220000	0.58567	2.826000	0.97356	0.561000	0.74099	CCC	-	HMMPfam_RWD		0.463	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF25	protein_coding	OTTHUMT00000256721.1	G	NM_022453		219241639	-1	no_errors	NM_022453.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	219533395	G	T	219533395	3	4	115	1	0	0	0	0	1	0	0	0	13485	1174	41	4	1366	4	RNF25	2	219533395	Missense_Mutation	SNP	G	TCGA-AB-2923-03A-01W-0745-08		219533395	23665978	4	1289											
CCL20	6364	genome.wustl.edu	37	2	228680272	228680272	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr2:228680272T>A	ENST00000358813.4	+	2	237	c.179T>A	c.(178-180)aTc>aAc	p.I60N	CCL20_ENST00000409189.3_Missense_Mutation_p.I59N|CCL20_ENST00000473642.1_3'UTR			P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	60					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemokinesis (GO:0042466)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of T cell migration (GO:2000406)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		GGCTGTGACATCAATGCTATC	0.363																																						dbGAP											0			2											93	98	96					2																	228680272		2203	4300	6503	228388516	SO:0001583	missense	0			D86955	CCDS2469.1, CCDS46536.1	2q36.3	2013-02-25	2002-08-22	2002-08-23	ENSG00000115009	ENSG00000115009		"Chemokine ligands", "Endogenous ligands"	10619	protein-coding gene	gene with protein product		601960	"small inducible cytokine subfamily A (Cys-Cys), member 20"	SCYA20		9038201, 11352563	Standard	NM_004591		Approved	LARC, MIP-3a, exodus-1, ST38, CKb4	uc002vpl.2	P78556	OTTHUMG00000133189	ENST00000358813.4:c.179T>A	2.37:g.228680272T>A	ENSP00000351671:p.Ile60Asn	73	3.95	3					228388516	42	45.45	35	Q53S51|Q99664	Missense_Mutation	SNP	PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines	p.I60N	ENST00000358813.4	37	c.179	CCDS2469.1	2	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021691	0.54576	.	.	ENSG00000115009	ENST00000409189;ENST00000358813	T;T	0.05199	3.48;3.48	4.82	4.82	0.62117	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.22820	0.0551	.	.	.	0.47698	D	0.999495	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00482	-1.1713	9	0.72032	D	0.01	-19.1325	10.7728	0.46332	0.0:0.0:0.0:1.0	.	59;60	P78556-2;P78556	.;CCL20_HUMAN	N	59;60	ENSP00000386273:I59N;ENSP00000351671:I60N	ENSP00000351671:I60N	I	+	2	0	CCL20	228388516	0.998000	0.40836	0.995000	0.50966	0.552000	0.35366	4.115000	0.57865	1.805000	0.52779	0.455000	0.32223	ATC	-	PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines		0.363	CCL20-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCL20	protein_coding	OTTHUMT00000331641.1	T	NM_004591		228388516	1	no_errors	NM_004591.1	genbank	human	validated	54_36p	missense	SNP	0.996	A	A	228680272	T	A	228680272	3	1	115	1	0	0	0	0	1	0	0	0	2892	1435	50	5	185	5	CCL20	2	228680272	Missense_Mutation	SNP	T	TCGA-AB-2923-03A-01W-0745-08	9146877	228680272	14519101	5	1290											
ACPL2	92370	genome.wustl.edu	37	3	141011154	141011154	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr3:141011154T>G	ENST00000286353.4	+	6	687	c.550T>G	c.(550-552)Tat>Gat	p.Y184D	ACPL2_ENST00000504264.1_Missense_Mutation_p.Y167D|ACPL2_ENST00000393007.1_Missense_Mutation_p.Y168D|ACPL2_ENST00000502783.1_Missense_Mutation_p.Y146D|ACPL2_ENST00000508812.1_Missense_Mutation_p.Y175D|ACPL2_ENST00000393010.2_Missense_Mutation_p.Y184D|RP11-438D8.2_ENST00000507698.1_RNA	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		184						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GAGGGATATCTATCTAAAGAA	0.478																																						dbGAP											0			3											83	81	82					3																	141011154		2203	4300	6503	142493844	SO:0001583	missense	0																														ENST00000286353.4:c.550T>G	3.37:g.141011154T>G	ENSP00000286353:p.Tyr184Asp	82	0	0					142493844	40	38.46	25	D3DNF5|Q49AJ2|W0TR04	Missense_Mutation	SNP	HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like	p.Y184D	ENST00000286353.4	37	c.550	CCDS3116.1	3	.	.	.	.	.	.	.	.	.	.	T	21.7	4.185642	0.78789	.	.	ENSG00000155893	ENST00000286353;ENST00000502783;ENST00000393010;ENST00000504264;ENST00000508812;ENST00000393007	D;D;D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8;-2.8;-2.8	5.61	5.61	0.85477	.	0.059005	0.64402	D	0.000001	D	0.95818	0.8639	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	.	14.0487	0.64722	0.0:0.0:0.0:1.0	.	167;184	B7Z3R9;Q8TE99	.;ACPL2_HUMAN	D	184;146;184;167;175;168	ENSP00000286353:Y184D;ENSP00000422558:Y146D;ENSP00000376733:Y184D;ENSP00000426877:Y167D;ENSP00000422901:Y175D;ENSP00000376731:Y168D	ENSP00000286353:Y184D	Y	+	1	0	ACPL2	142493844	1.000000	0.71417	0.995000	0.50966	0.969000	0.65631	7.853000	0.86934	2.254000	0.74563	0.533000	0.62120	TAT	-	HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like		0.478	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACPL2	protein_coding	OTTHUMT00000359533.2	T			142493844	1	no_errors	NM_001037172.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	141011154	T	G	141011154	3	3	115	1	0	0	0	0	1	0	0	0	166	1522	53	5	568	5	ACPL2	3	141011154	Missense_Mutation	SNP	T	TCGA-AB-2923-03A-01W-0745-08		141011154	57011276	6	1291											
TET2	54790	genome.wustl.edu	37	4	106156747	106156747	+	Nonsense_Mutation	SNP	C	C	T	rs572712965	byFrequency	TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr4:106156747C>T	ENST00000540549.1	+	3	2508	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	TET2_ENST00000394764.1_Nonsense_Mutation_p.R550*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R550*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R550*|TET2_ENST00000545826.1_Nonsense_Mutation_p.R550*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R550*|TET2_ENST00000513237.1_Nonsense_Mutation_p.R571*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	550					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R550*(20)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAGCAAACACGAGATCTTGT	0.468			"Mis N, F"		MDS								C|||	2	0.000399361	0	0.0014	5008	,	,		20410	0.001		0	False		,,,				2504	0					dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	20	Substitution - Nonsense(20)	haematopoietic_and_lymphoid_tissue(20)	4											93	92	92					4																	106156747		2203	4300	6503	106376196	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1648C>T	4.37:g.106156747C>T	ENSP00000442788:p.Arg550*	118	3.25	4					106376196	71	40.5	49	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.R550*	ENST00000540549.1	37	c.1648	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822696	0.90873	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	.	.	.	5.31	2.36	0.29203	.	1.946010	0.03107	N	0.161907	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2924	0.10885	0.2721:0.532:0.0:0.1959	.	.	.	.	X	550;550;550;571;550;550;550;550	.	ENSP00000265149:R550X	R	+	1	2	TET2	106376196	0.005000	0.15991	0.006000	0.13384	0.002000	0.02628	1.370000	0.34238	1.250000	0.43966	-0.145000	0.13849	CGA	-	NULL		0.468	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106376196	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	nonsense	SNP	0.001	T	T	106156747	C	T	106156747	4	4	115	1	0	0	0	0	0	1	0	0	15767	528	19	1	1650	1	TET2	4	106156747	Nonsense_Mutation	SNP	C	TCGA-AB-2923-03A-01W-0745-08		106156747	84997529	7	1292											
TET2	54790	genome.wustl.edu	37	4	106157969	106157970	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr4:106157969_106157970insA	ENST00000540549.1	+	3	3730_3731	c.2870_2871insA	c.(2869-2874)ttacagfs	p.Q958fs	TET2_ENST00000394764.1_Frame_Shift_Ins_p.Q958fs|TET2_ENST00000413648.2_Frame_Shift_Ins_p.Q958fs|TET2_ENST00000305737.2_Frame_Shift_Ins_p.Q958fs|TET2_ENST00000545826.1_Frame_Shift_Ins_p.Q958fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.Q958fs|TET2_ENST00000513237.1_Frame_Shift_Ins_p.Q979fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	958	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.L957*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGGCATCTCTTACAGAAGCAAG	0.505			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	4																																								106377419	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2871dupA	4.37:g.106157970_106157970dupA	ENSP00000442788:p.Gln958fs	71	1.39	1					106377418	31	52.31	34	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Ins	INS	NULL	p.Q958fs	ENST00000540549.1	37	c.2870_2871	CCDS47120.1	4																																																																																			-	NULL		0.505	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	-	NM_017628		106377419	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:0.960	A	A	106157970	-	A	106157969	7	5	115	1	0	1	1	0	0	0	0	0	15767	1764	61	0	2872	0	TET2	4	106157969	Frame_Shift_Ins	INS	-	TCGA-AB-2923-03A-01W-0745-08	1222	106157969	84996307	8	1293											
MEGF10	84466	genome.wustl.edu	37	5	126674892	126674892	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr5:126674892G>T	ENST00000274473.6	+	4	464	c.197G>T	c.(196-198)tGg>tTg	p.W66L	MEGF10_ENST00000508365.1_Missense_Mutation_p.W66L|MEGF10_ENST00000418761.2_Missense_Mutation_p.W66L|MEGF10_ENST00000503335.2_Missense_Mutation_p.W66L	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	66	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATTCTAAACTGGTTTAAATGC	0.398																																						dbGAP											0			5											114	101	106					5																	126674892		2203	4299	6502	126702791	SO:0001583	missense	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.197G>T	5.37:g.126674892G>T	ENSP00000274473:p.Trp66Leu	169	4.52	8					126702791	101	39.29	66	Q68DE5|Q8WUL3	Missense_Mutation	SNP	HMMPfam_Laminin_EGF,HMMSmart_SM00180,HMMSmart_SM00181,superfamily_Plant inhibitors of proteinases and amylases,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin	p.W66L	ENST00000274473.6	37	c.197	CCDS4142.1	5	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622097	0.87460	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.79454	-1.27;2.83;2.83;-1.27	5.91	5.91	0.95273	EMI domain (1);	0.000000	0.64402	D	0.000001	D	0.82342	0.5016	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.91635	0.958;0.999	T	0.75249	-0.3384	10	0.10902	T	0.67	-20.8265	19.0678	0.93119	0.0:0.0:1.0:0.0	.	66;66	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	L	66	ENSP00000423354:W66L;ENSP00000423195:W66L;ENSP00000416284:W66L;ENSP00000274473:W66L	ENSP00000274473:W66L	W	+	2	0	MEGF10	126702791	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.683000	0.98657	2.813000	0.96785	0.655000	0.94253	TGG	-	HMMPfam_EMI		0.398	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	protein_coding	OTTHUMT00000250973.2	G	NM_032446		126702791	1	no_errors	NM_032446.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	126674892	G	T	126674892	3	4	115	1	0	0	0	0	1	0	0	0	9460	1357	47	4	203	4	MEGF10	5	126674892	Missense_Mutation	SNP	G	TCGA-AB-2923-03A-01W-0745-08		126674892	54240368	9	1294											
CAGE1	285782	genome.wustl.edu	37	6	7379008	7379008	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr6:7379008G>T	ENST00000512086.1	-	4	731	c.529C>A	c.(529-531)Caa>Aaa	p.Q177K	CAGE1_ENST00000502583.1_Missense_Mutation_p.Q177K|CAGE1_ENST00000338150.4_Missense_Mutation_p.Q177K|CAGE1_ENST00000296742.7_Missense_Mutation_p.Q41K|CAGE1_ENST00000509324.1_Intron|CAGE1_ENST00000379918.4_Missense_Mutation_p.Q177K			Q8TC20	CAGE1_HUMAN	cancer antigen 1	177										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TTACCAAGTTGGTCTGTATTT	0.383																																						dbGAP											0			6											144	137	139					6																	7379008		1842	4090	5932	7324007	SO:0001583	missense	0			BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"cancer/testis antigen 95"	608304	"cancer/testis antigen 3"	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.529C>A	6.37:g.7379008G>T	ENSP00000427583:p.Gln177Lys	91	4.21	4					7324007	70	44.53	57	D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Missense_Mutation	SNP	NULL	p.Q41K	ENST00000512086.1	37	c.121		6	.	.	.	.	.	.	.	.	.	.	G	9.643	1.139487	0.21205	.	.	ENSG00000164304	ENST00000541116;ENST00000379918;ENST00000502583;ENST00000296742;ENST00000512086;ENST00000338150;ENST00000542431;ENST00000512691	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	4.95	0.73	0.18271	.	1.971180	0.02130	N	0.056348	T	0.15782	0.0380	L	0.56769	1.78	0.09310	N	1	B	0.28636	0.218	B	0.28011	0.085	T	0.36359	-0.9751	10	0.66056	D	0.02	1.2228	9.0591	0.36423	0.0:0.5141:0.3365:0.1494	.	177	Q8TC20	CAGE1_HUMAN	K	177;177;177;41;177;177;177;189	ENSP00000369250:Q177K;ENSP00000425493:Q177K;ENSP00000296742:Q41K;ENSP00000427583:Q177K;ENSP00000338107:Q177K;ENSP00000423789:Q189K	ENSP00000296742:Q41K	Q	-	1	0	CAGE1	7324007	0.019000	0.18553	0.000000	0.03702	0.016000	0.09150	0.855000	0.27805	0.235000	0.21160	-0.169000	0.13324	CAA	-	NULL		0.383	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	CAGE1	protein_coding	OTTHUMT00000367136.1	G	NM_175745		7324007	-1	no_errors	NM_205864.2	genbank	human	validated	54_36p	missense	SNP	0.001	T	T	7379008	G	T	7379008	3	4	115	1	0	0	0	0	1	0	0	0	2572	1357	47	4	2140	4	CAGE1	6	7379008	Missense_Mutation	SNP	G	TCGA-AB-2923-03A-01W-0745-08		7379008	163736059	10	1295											
MBOAT1	154141	genome.wustl.edu	37	6	20102621	20102621	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	T	T	T	-	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr6:20102621delT	ENST00000324607.7	-	13	1548	c.1384delA	c.(1384-1386)atcfs	p.I463fs	MBOAT1_ENST00000541730.1_Frame_Shift_Del_p.I314fs	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	463					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AGACTTATGATGTGCAAATAA	0.343																																						dbGAP											0			6											84	85	85					6																	20102621		2203	4300	6503	20210600	SO:0001589	frameshift_variant	0			AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"lysophosphatidylethanolamine acyltransferase 1"	611732	"O-acyltransferase (membrane bound) domain containing 1"	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.1384delA	6.37:g.20102621delT	ENSP00000324944:p.Ile463fs	80	4.71	4					20210600	38	42.47	31	A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Frame_Shift_Del	DEL	HMMPfam_MBOAT	p.I462fs	ENST00000324607.7	37	c.1384	CCDS34346.1	6																																																																																			-	NULL		0.343	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT1	protein_coding	OTTHUMT00000039980.1	T			20210600	-1	no_errors	NM_001080480.1	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.993	-	-	20102621	T	-	20102621	7	5	115	1	0	1	0	1	0	0	0	0	9356	1464	51	0	107	0	MBOAT1	6	20102621	Frame_Shift_Del	DEL	T	TCGA-AB-2923-03A-01W-0745-08	12723613	20102621	151012446	11	1296											
PGBD1	84547	genome.wustl.edu	37	6	28269676	28269676	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr6:28269676A>G	ENST00000405948.2	+	7	2465	c.2045A>G	c.(2044-2046)aAt>aGt	p.N682S	PGBD1_ENST00000259883.3_Missense_Mutation_p.N682S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	682						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGAAAACAATGAGATAATT	0.393																																						dbGAP											0			6											146	147	147					6																	28269676		2203	4300	6503	28377655	SO:0001583	missense	0			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"-"	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.2045A>G	6.37:g.28269676A>G	ENSP00000385213:p.Asn682Ser	126	3.08	4					28377655	65	53.24	74	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	HMMPfam_SCAN,HMMSmart_SCAN	p.N682S	ENST00000405948.2	37	c.2045	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	A	3.451	-0.112094	0.06881	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.16073	2.37;2.37	4.48	4.48	0.54585	.	0.712728	0.11408	N	0.567096	T	0.02380	0.0073	N	0.02539	-0.55	0.25373	N	0.98868	B	0.10296	0.003	B	0.13407	0.009	T	0.44190	-0.9344	10	0.28530	T	0.3	-25.9369	10.3621	0.44001	1.0:0.0:0.0:0.0	.	682	Q96JS3	PGBD1_HUMAN	S	682	ENSP00000385213:N682S;ENSP00000259883:N682S	ENSP00000259883:N682S	N	+	2	0	PGBD1	28377655	0.531000	0.26338	0.970000	0.41538	0.379000	0.30106	2.196000	0.42686	2.012000	0.59069	0.482000	0.46254	AAT	-	NULL		0.393	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	protein_coding	OTTHUMT00000040188.2	A			28377655	1	no_errors	NM_032507.2	genbank	human	reviewed	54_36p	missense	SNP	0.978	G	G	28269676	A	G	28269676	3	3	115	1	0	0	0	0	1	0	0	0	11780	101	4	3	2067	3	PGBD1	6	28269676	Missense_Mutation	SNP	A	TCGA-AB-2923-03A-01W-0745-08	8167055	28269676	142845391	12	1297											
RPS10	6204	genome.wustl.edu	37	6	34392507	34392507	+	Silent	SNP	C	C	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr6:34392507C>T	ENST00000326199.8	-	3	354	c.261G>A	c.(259-261)ccG>ccA	p.P87P	RPS10-NUDT3_ENST00000605528.1_Silent_p.P87P|RPS10_ENST00000494077.1_5'UTR|RPS10_ENST00000344700.3_Silent_p.P87P	NM_001014.4|NM_001203245.2|NM_001204091.1	NP_001005.1|NP_001190174.1|NP_001191020.1	P46783	RS10_HUMAN	ribosomal protein S10	87					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	9						GCACAATCTCCGGGGGCAGAT	0.532																																					Colon(121;749 1624 4895 8687 22360)	dbGAP											0			6											29	29	29					6																	34392507		2202	4297	6499	34500485	SO:0001819	synonymous_variant	0			U14972	CCDS4792.1	6p21.31	2011-04-05			ENSG00000124614	ENSG00000124614		"S ribosomal proteins"	10383	protein-coding gene	gene with protein product		603632				7772601, 9582194	Standard	NM_001014		Approved	MGC88819, S10		P46783	OTTHUMG00000014546	ENST00000326199.8:c.261G>A	6.37:g.34392507C>T		40	0	0					34500485	28	46.15	24	B2R4E3|Q5TZC0	Silent	SNP	HMMPfam_S10_plectin	p.P87	ENST00000326199.8	37	c.261	CCDS4792.1	6																																																																																			-	HMMPfam_S10_plectin		0.532	RPS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS10	protein_coding	OTTHUMT00000040230.1	C			34500485	-1	no_errors	NM_001014.3	genbank	human	reviewed	54_36p	silent	SNP	0.757	T	T	34392507	C	T	34392507	2	4	115	1	0	0	0	0	0	0	0	1	13620	639	23	1		1	RPS10	6	34392507	Silent	SNP	C	TCGA-AB-2923-03A-01W-0745-08	6122831	34392507	136722560	13	1298											
DST	667	genome.wustl.edu	37	6	56480893	56480893	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr6:56480893C>T	ENST00000370765.6	-	24	7479	c.7372G>A	c.(7372-7374)Gaa>Aaa	p.E2458K	DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1754					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGATCCTTTCCCCACTAGCA	0.483																																						dbGAP											0			6											65	68	67					6																	56480893		2203	4300	6503	56588852	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"EF-hand domain containing"	1090	protein-coding gene	gene with protein product		113810	"bullous pemphigoid antigen 1, 230/240kDa"	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7372G>A	6.37:g.56480893C>T	ENSP00000359801:p.Glu2458Lys	65	4.29	3					56588852	43	37.14	26	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	HMMPfam_Plectin,HMMSmart_PLEC,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_Spectrin,superfamily_SSF75399	p.E2458K	ENST00000370765.6	37	c.7372	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	9.922	1.212466	0.22289	.	.	ENSG00000151914	ENST00000370765	T	0.70282	-0.47	5.87	5.0	0.66597	.	.	.	.	.	T	0.75184	0.3815	.	.	.	0.09310	N	0.999993	D	0.67145	0.996	D	0.77557	0.99	T	0.73956	-0.3819	7	0.22109	T	0.4	.	15.0357	0.71744	0.0:0.9319:0.0:0.0681	.	2458	Q03001-3	.	K	2458	ENSP00000359801:E2458K	ENSP00000359801:E2458K	E	-	1	0	DST	56588852	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	4.590000	0.61013	1.497000	0.48584	-0.145000	0.13849	GAA	-	HMMSmart_PLEC,superfamily_SSF75399		0.483	DST-010	KNOWN	basic|CCDS	protein_coding	DST	protein_coding	OTTHUMT00000041027.2	C	NM_001723		56588852	-1	no_errors	NM_001723.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	56480893	C	T	56480893	3	4	115	1	0	0	0	0	1	0	0	0	4783	864	30	2	13027	2	DST	6	56480893	Missense_Mutation	SNP	C	TCGA-AB-2923-03A-01W-0745-08	22088386	56480893	114634174	14	1299											
FAM82B	51115	genome.wustl.edu	37	8	87519294	87519294	+	Silent	SNP	A	A	G			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr8:87519294A>G	ENST00000406452.3	-	2	336	c.177T>C	c.(175-177)gcT>gcC	p.A59A	RMDN1_ENST00000430676.2_Silent_p.A59A|CPNE3_ENST00000198765.4_Intron|RMDN1_ENST00000518772.1_5'UTR|RMDN1_ENST00000519966.1_Silent_p.A59A|RMDN1_ENST00000523911.1_Silent_p.A15A	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	59						microtubule (GO:0005874)|mitochondrion (GO:0005739)											AATACGACAAAGCTGAGAGTA	0.373																																						dbGAP											0			8											129	140	136					8																	87519294		2203	4300	6503	87588410	SO:0001819	synonymous_variant	0			AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"family with sequence similarity 82, member B"	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.177T>C	8.37:g.87519294A>G		87	1.14	1					87588410	43	51.69	46	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Silent	SNP	superfamily_Prenyl_trans	p.A59	ENST00000406452.3	37	c.177	CCDS34918.1	8	.	.	.	.	.	.	.	.	.	.	A	8.870	0.948993	0.18356	.	.	ENSG00000176623	ENST00000519789	.	.	.	4.39	-3.29	0.05017	.	.	.	.	.	T	0.40423	0.1116	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33548	-0.9864	4	.	.	.	-1.0825	3.4461	0.07481	0.4459:0.0:0.2292:0.3249	.	.	.	.	L	5	.	.	F	-	1	0	FAM82B	87588410	0.997000	0.39634	0.987000	0.45799	0.786000	0.44442	0.411000	0.21115	-0.447000	0.07138	-0.924000	0.02725	TTT	-	NULL		0.373	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM82B	protein_coding	OTTHUMT00000374770.2	A	NM_016033		87588410	-1	no_errors	NM_016033.2	genbank	human	validated	54_36p	silent	SNP	0.989	G	G	87519294	A	G	87519294	2	3	115	1	0	0	0	0	0	0	0	1	5632	59	3	3		3	FAM82B	8	87519294	Silent	SNP	A	TCGA-AB-2923-03A-01W-0745-08		87519294	58844728	15	1300											
PKD2L1	9033	genome.wustl.edu	37	10	102048168	102048168	+	Silent	SNP	C	C	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr10:102048168C>T	ENST00000318222.3	-	16	2785	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	PKD2L1_ENST00000338519.3_Silent_p.T726T|BLOC1S2_ENST00000441611.1_5'Flank|PKD2L1_ENST00000353274.3_3'UTR|BLOC1S2_ENST00000361832.2_5'Flank|BLOC1S2_ENST00000370372.2_5'Flank	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	801					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TCCTCTGCAACGTTGGAATCT	0.522																																						dbGAP											0			10											161	168	166					10																	102048168		2203	4300	6503	102038158	SO:0001819	synonymous_variant	0			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2403G>A	10.37:g.102048168C>T		79	3.66	3					102038158	50	45.05	41	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels	p.T801	ENST00000318222.3	37	c.2403	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	2.519	-0.311260	0.05422	.	.	ENSG00000107593	ENST00000465680	.	.	.	3.43	0.149	0.14863	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26360	-1.0105	4	.	.	.	12.8317	5.4773	0.16702	0.0:0.5303:0.0:0.4697	.	.	.	.	I	58	.	.	V	-	1	0	PKD2L1	102038158	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.072000	0.14617	0.045000	0.15804	0.555000	0.69702	GTT	-	NULL		0.522	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102038158	-1	no_errors	NM_016112.2	genbank	human	reviewed	54_36p	silent	SNP	0.000	T	T	102048168	C	T	102048168	2	4	115	1	0	0	0	0	0	0	0	1	11967	523	19	1		1	PKD2L1	10	102048168	Silent	SNP	C	TCGA-AB-2923-03A-01W-0745-08		102048168	33486579	16	1301											
OR5W2	390148	genome.wustl.edu	37	11	55681628	55681628	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr11:55681628A>T	ENST00000344514.1	-	1	430	c.431T>A	c.(430-432)cTc>cAc	p.L144H		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCCAGTCAAGAGTAGATAGCA	0.463																																					Melanoma(48;171 1190 15239 43886 49348)	dbGAP											0			11											68	62	64					11																	55681628		2201	4296	6497	55438204	SO:0001583	missense	0			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"GPCR / Class A : Olfactory receptors"	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.431T>A	11.37:g.55681628A>T	ENSP00000342448:p.Leu144His	100	3.85	4					55438204	42	53.85	49		Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.L144H	ENST00000344514.1	37	c.431	CCDS31513.1	11	.	.	.	.	.	.	.	.	.	.	A	10.90	1.481271	0.26598	.	.	ENSG00000187612	ENST00000344514	T	0.45668	0.89	5.01	3.86	0.44501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28989	N	0.013487	T	0.76118	0.3943	H	0.98833	4.345	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.72312	-0.4331	10	0.87932	D	0	.	10.1561	0.42823	0.8505:0.0:0.0:0.1495	.	144	Q8NH69	OR5W2_HUMAN	H	144	ENSP00000342448:L144H	ENSP00000342448:L144H	L	-	2	0	OR5W2	55438204	0.990000	0.36364	0.003000	0.11579	0.043000	0.13939	7.717000	0.84732	0.730000	0.32425	0.448000	0.29417	CTC	-	HMMPfam_7tm_1,superfamily_SSF81321		0.463	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5W2	protein_coding	OTTHUMT00000391523.1	A	NM_001001960		55438204	-1	no_errors	NM_001001960.1	genbank	human	provisional	54_36p	missense	SNP	0.011	T	T	55681628	A	T	55681628	3	4	115	1	0	0	0	0	1	0	0	0	11185	304	11	5	503	5	OR5W2	11	55681628	Missense_Mutation	SNP	A	TCGA-AB-2923-03A-01W-0745-08		55681628	79324888	17	1302											
STRC	161497	genome.wustl.edu	37	15	43910179	43910179	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr15:43910179G>A	ENST00000450892.2	-	2	517	c.440C>T	c.(439-441)gCc>gTc	p.A147V	STRC_ENST00000541030.1_5'UTR	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	147					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGGAACTAAGGCTCCCAGCAG	0.647																																						dbGAP											0			15											31	47	42					15																	43910179		2195	4295	6490	41697471	SO:0001583	missense	0			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.440C>T	15.37:g.43910179G>A	ENSP00000401513:p.Ala147Val	61	0	0					41697471	45	23.73	14		Missense_Mutation	SNP	NULL	p.A147V	ENST00000450892.2	37	c.440	CCDS10098.1	15	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402753	0.42613	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000456110;ENST00000432436	D	0.82526	-1.62	4.83	3.69	0.42338	.	0.297275	0.27043	N	0.021212	T	0.69324	0.3098	N	0.19112	0.55	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.004	T	0.66791	-0.5834	10	0.48119	T	0.1	-0.1892	8.9681	0.35890	0.1205:0.0:0.8795:0.0	.	147;147	E9PBT5;Q7RTU9	.;STRC_HUMAN	V	147;147;147;87	ENSP00000401513:A147V	ENSP00000299992:A147V	A	-	2	0	STRC	41697471	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.859000	0.39418	2.244000	0.73946	0.632000	0.83419	GCC	-	NULL		0.647	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		41697471	-1	no_errors	NM_153700.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	A	A	43910179	G	A	43910179	3	1	115	1	0	0	0	0	1	0	0	0	15327	1203	42	2	4999	2	STRC	15	43910179	Missense_Mutation	SNP	G	TCGA-AB-2923-03A-01W-0745-08		43910179	58621213	18	1303											
PPL	5493	genome.wustl.edu	37	16	4935049	4935049	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr16:4935049G>A	ENST00000345988.2	-	22	3696	c.3607C>T	c.(3607-3609)Cgg>Tgg	p.R1203W	PPL_ENST00000590782.2_Missense_Mutation_p.R1201W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1203					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCGGCACCCCGGTACTTTCGC	0.632																																						dbGAP											0			16											55	52	53					16																	4935049		2197	4300	6497	4875050	SO:0001583	missense	0			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3607C>T	16.37:g.4935049G>A	ENSP00000340510:p.Arg1203Trp	42	2.33	1					4875050	12	42.86	9	O60314|O60454|Q14C98	Missense_Mutation	SNP	HMMPfam_Plectin,HMMSmart_SM00250,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_Plakin repeat	p.R1203W	ENST00000345988.2	37	c.3607	CCDS10526.1	16	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533946	0.45073	.	.	ENSG00000118898	ENST00000345988	T	0.52526	0.66	5.65	1.14	0.20703	.	0.133103	0.48286	D	0.000198	T	0.64249	0.2581	M	0.62723	1.935	0.42767	D	0.993829	D	0.89917	1.0	D	0.77004	0.989	T	0.67205	-0.5729	10	0.66056	D	0.02	.	15.9282	0.79635	0.0:0.0:0.3165:0.6835	.	1203	O60437	PEPL_HUMAN	W	1203	ENSP00000340510:R1203W	ENSP00000340510:R1203W	R	-	1	2	PPL	4875050	1.000000	0.71417	0.963000	0.40424	0.552000	0.35366	1.695000	0.37763	-0.033000	0.13736	0.561000	0.74099	CGG	-	NULL		0.632	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	protein_coding	OTTHUMT00000251715.1	G	NM_002705		4875050	-1	no_errors	NM_002705.4	genbank	human	reviewed	54_36p	missense	SNP	0.992	A	A	4935049	G	A	4935049	3	1	115	1	0	0	0	0	1	0	0	0	12334	1115	39	1	1667	1	PPL	16	4935049	Missense_Mutation	SNP	G	TCGA-AB-2923-03A-01W-0745-08		4935049	85419704	19	1304											
TMEM104	54868	genome.wustl.edu	37	17	72791745	72791745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr17:72791745C>T	ENST00000335464.5	+	8	772	c.610C>T	c.(610-612)Cga>Tga	p.R204*	TMEM104_ENST00000582330.1_Nonsense_Mutation_p.R204*|TMEM104_ENST00000417024.2_Nonsense_Mutation_p.R217*|TMEM104_ENST00000582773.1_Nonsense_Mutation_p.R204*	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	204						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCCCCTGCGCCGAGTGGACGC	0.587																																						dbGAP											0			17											56	46	49					17																	72791745		2203	4300	6503	70303340	SO:0001587	stop_gained	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.610C>T	17.37:g.72791745C>T	ENSP00000334849:p.Arg204*	32	2.94	1					70303340	23	53.06	26	Q8TEU1|Q9NT56|Q9NXH1	Nonsense_Mutation	SNP	HMMPfam_Aa_trans	p.R204*	ENST00000335464.5	37	c.610	CCDS32723.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682654	0.88542	.	.	ENSG00000109066	ENST00000335464;ENST00000417024	.	.	.	5.0	2.8	0.32819	.	0.108901	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-16.2745	12.9641	0.58473	0.4017:0.5983:0.0:0.0	.	.	.	.	X	204;217	.	ENSP00000334849:R204X	R	+	1	2	TMEM104	70303340	0.999000	0.42202	0.937000	0.37676	0.897000	0.52465	2.044000	0.41241	1.199000	0.43173	0.655000	0.94253	CGA	-	NULL		0.587	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	protein_coding	OTTHUMT00000444442.1	C	NM_017728		70303340	1	no_errors	NM_017728.3	genbank	human	validated	54_36p	nonsense	SNP	0.969	T	T	72791745	C	T	72791745	4	4	115	1	0	0	0	0	0	1	0	0	16015	644	23	1	636	1	TMEM104	17	72791745	Nonsense_Mutation	SNP	C	TCGA-AB-2923-03A-01W-0745-08		72791745	8403465	20	1305											
ZNF420	147923	genome.wustl.edu	37	19	37618611	37618611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr19:37618611C>T	ENST00000337995.3	+	5	933	c.718C>T	c.(718-720)Cga>Tga	p.R240*	CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000304239.7_Nonsense_Mutation_p.R240*|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	240					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAACTTACCCGACATCAAAA	0.363																																						dbGAP											0			19											58	63	61					19																	37618611		2202	4300	6502	42310451	SO:0001587	stop_gained	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"Zinc fingers, C2H2-type", "-"	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.718C>T	19.37:g.37618611C>T	ENSP00000338770:p.Arg240*	73	3.95	3					42310451	32	52.94	36	B2RDY6|Q96ML5	Nonsense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.R240*	ENST00000337995.3	37	c.718	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370297	0.82573	.	.	ENSG00000197050	ENST00000304239;ENST00000337995	.	.	.	3.98	2.87	0.33458	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	6.9974	0.24791	0.1929:0.6193:0.1878:0.0	.	.	.	.	X	240	.	ENSP00000306102:R240X	R	+	1	2	ZNF420	42310451	0.000000	0.05858	0.825000	0.32803	0.959000	0.62525	-3.290000	0.00524	2.046000	0.60703	0.655000	0.94253	CGA	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.363	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	protein_coding	OTTHUMT00000109587.3	C	NM_144689		42310451	1	no_errors	NM_144689.3	genbank	human	provisional	54_36p	nonsense	SNP	0.002	T	T	37618611	C	T	37618611	4	4	115	1	0	0	0	0	0	1	0	0	17894	644	23	1	728	1	ZNF420	19	37618611	Nonsense_Mutation	SNP	C	TCGA-AB-2923-03A-01W-0745-08		37618611	21510372	21	1306											
FCGBP	8857	genome.wustl.edu	37	19	40384036	40384036	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chr19:40384036C>T	ENST00000221347.6	-	21	9581	c.9574G>A	c.(9574-9576)Gcg>Acg	p.A3192T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3192	TIL 7.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGAAACCCGCGTCGCACTGG	0.667																																						dbGAP											0			19											4	4	4					19																	40384036		1276	2904	4180	45075876	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9574G>A	19.37:g.40384036C>T	ENSP00000221347:p.Ala3192Thr	29	3.33	1					45075876	28	37.78	17	O95784	Missense_Mutation	SNP	HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL	p.A3192T	ENST00000221347.6	37	c.9574	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	0.357	-0.941342	0.02322	.	.	ENSG00000090920	ENST00000221347	T	0.29655	1.56	3.48	-6.96	0.01622	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	T	0.12390	0.0301	L	0.28556	0.865	0.09310	N	1	P	0.42584	0.784	B	0.34452	0.183	T	0.07328	-1.0778	9	0.15499	T	0.54	.	3.6174	0.08082	0.1167:0.3315:0.384:0.1677	.	3192	Q9Y6R7	FCGBP_HUMAN	T	3192	ENSP00000221347:A3192T	ENSP00000221347:A3192T	A	-	1	0	FCGBP	45075876	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-4.336000	0.00251	-2.714000	0.00392	-0.693000	0.03709	GCG	-	superfamily_Cysrich_TIL,HMMPfam_TIL		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890		45075876	-1	no_errors	NM_003890.2	genbank	human	validated	54_36p	missense	SNP	0.014	T	T	40384036	C	T	40384036	3	4	115	1	0	0	0	0	1	0	0	0	5778	768	27	1	6707	1	FCGBP	19	40384036	Missense_Mutation	SNP	C	TCGA-AB-2923-03A-01W-0745-08	2765425	40384036	18744947	22	1307											
ASB11	140456	genome.wustl.edu	37	X	15306084	15306084	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2923-03A-01W-0745-08	TCGA-AB-2923-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	26973c94-f1c1-46a1-b753-4f561fd7d451	872c532a-f3d4-4cb5-8ebd-09ff6c9d5cdd	g.chrX:15306084G>A	ENST00000480796.1	-	6	816	c.766C>T	c.(766-768)Cgt>Tgt	p.R256C	ASB11_ENST00000380470.3_Missense_Mutation_p.R239C|ASB11_ENST00000344384.4_Missense_Mutation_p.R235C|ASB11_ENST00000537676.1_Missense_Mutation_p.R235C			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	256					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					GCATTTCTACGCTTCAGGTTA	0.572																																						dbGAP											0			X											133	106	115					X																	15306084		2203	4300	6503	15216005	SO:0001583	missense	0			AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"Ankyrin repeat domain containing"	17186	protein-coding gene	gene with protein product		300626	"ankyrin repeat and SOCS box-containing 11", "ankyrin repeat and SOCS box containing 11"			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.766C>T	X.37:g.15306084G>A	ENSP00000417914:p.Arg256Cys	30	6.25	2					15216005	27	22.22	8	E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	HMMPfam_SOCS_box,HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK	p.R256C	ENST00000480796.1	37	c.766	CCDS14164.1	X	.	.	.	.	.	.	.	.	.	.	G	9.804	1.181231	0.21787	.	.	ENSG00000165192	ENST00000537676;ENST00000380470;ENST00000344384;ENST00000480796	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.44	1.68	0.24146	Ankyrin repeat-containing domain (4);	0.669242	0.14936	N	0.289808	T	0.38983	0.1061	N	0.17800	0.525	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.22068	-1.0227	10	0.46703	T	0.11	2.1305	1.2629	0.02005	0.4498:0.1446:0.2584:0.1473	.	239;256;235	Q7Z667;Q8WXH4;E9PEN1	.;ASB11_HUMAN;.	C	235;239;235;256	ENSP00000445465:R235C;ENSP00000369837:R239C;ENSP00000343408:R235C;ENSP00000417914:R256C	ENSP00000343408:R235C	R	-	1	0	ASB11	15216005	0.002000	0.14202	0.045000	0.18777	0.912000	0.54170	0.151000	0.16283	0.321000	0.23259	0.523000	0.50628	CGT	-	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK		0.572	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB11	protein_coding	OTTHUMT00000055852.2	G			15216005	-1	no_errors	NM_080873.1	genbank	human	reviewed	54_36p	missense	SNP	0.006	A	A	15306084	G	A	15306084	3	1	115	1	0	0	0	0	1	0	0	0	1015	1087	38	1	213	1	ASB11	23	15306084	Missense_Mutation	SNP	G	TCGA-AB-2923-03A-01W-0745-08		15306084	139964476	23	1308											
SLC45A2	51151	genome.wustl.edu	37	5	33984527	33984527	+	Silent	SNP	C	C	T	rs202111567		TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr5:33984527C>T	ENST00000296589.4	-	1	308	c.162G>A	c.(160-162)gcG>gcA	p.A54A	SLC45A2_ENST00000509381.1_Silent_p.A54A|SLC45A2_ENST00000342059.3_Silent_p.A54A|SLC45A2_ENST00000382102.3_Silent_p.A54A|SLC45A2_ENST00000345083.5_Silent_p.A54A	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	54					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						GGGTCACATACGCTGCCTCCA	0.592																																					Ovarian(31;380 859 8490 22203 49048)	dbGAP											0			5											64	54	57					5																	33984527		2203	4300	6503	34020284	SO:0001819	synonymous_variant	0			AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"Solute carriers"	16472	protein-coding gene	gene with protein product		606202	"membrane associated transporter"	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.162G>A	5.37:g.33984527C>T		139	7.28	11					34020284	39	45.95	34	Q6P2P0|Q9BTM3	Silent	SNP	superfamily_MFS general substrate transporter	p.A54	ENST00000296589.4	37	c.162	CCDS3901.1	5																																																																																			-	superfamily_MFS general substrate transporter		0.592	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A2	protein_coding	OTTHUMT00000207443.2	C	NM_016180		34020284	-1	no_errors	NM_016180.2	genbank	human	reviewed	54_36p	silent	SNP	0.858	T	T	33984527	C	T	33984527	2	4	116	1	0	0	0	0	0	0	0	1	14641	523	19	1		1	SLC45A2	5	33984527	Silent	SNP	C	TCGA-AB-2924-03A-01W-0745-08		33984527	146930733	1	1309											
PPAP2A	8611	genome.wustl.edu	37	5	54721756	54721756	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr5:54721756A>C	ENST00000307259.8	-	5	1081	c.661T>G	c.(661-663)Tat>Gat	p.Y221D	PPAP2A_ENST00000264775.5_Missense_Mutation_p.Y222D	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	221					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TGGTGTTTATAATCAGAAACT	0.458																																						dbGAP											0			5											108	108	108					5																	54721756		2203	4300	6503	54757513	SO:0001583	missense	0			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.661T>G	5.37:g.54721756A>C	ENSP00000302229:p.Tyr221Asp	260	3.33	9		2	75	6	54757513	61	51.91	68	B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Missense_Mutation	SNP	HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase	p.Y222D	ENST00000307259.8	37	c.664	CCDS34159.1	5	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387647	0.82902	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	T;T	0.74632	-0.86;-0.86	5.46	5.46	0.80206	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.063178	0.64402	D	0.000003	D	0.87497	0.6192	M	0.85542	2.76	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.97110	0.979;1.0	D	0.89459	0.3735	10	0.72032	D	0.01	-15.6808	15.8331	0.78773	1.0:0.0:0.0:0.0	.	221;222	O14494;G3XA95	LPP1_HUMAN;.	D	222;221	ENSP00000264775:Y222D;ENSP00000302229:Y221D	ENSP00000264775:Y222D	Y	-	1	0	PPAP2A	54757513	1.000000	0.71417	0.996000	0.52242	0.817000	0.46193	8.910000	0.92685	2.192000	0.70111	0.460000	0.39030	TAT	-	HMMPfam_PAP2,HMMSmart_SM00014,superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase		0.458	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2A	protein_coding	OTTHUMT00000368073.1	A			54757513	-1	no_errors	NM_176895.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	54721756	A	C	54721756	3	2	116	1	0	0	0	0	1	0	0	0	12290	362	13	5	201	5	PPAP2A	5	54721756	Missense_Mutation	SNP	A	TCGA-AB-2924-03A-01W-0745-08	20737229	54721756	126193504	2	1310											
NPM1	4869	genome.wustl.edu	37	5	170837546	170837547	+	Frame_Shift_Ins	INS	-	-	TGTA			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	-	-	-	TGTA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr5:170837546_170837547insTGTA	ENST00000296930.5	+	11	1163_1164	c.862_863insTGTA	c.(862-864)tggfs	p.W288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.W288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.W259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2112)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288fs*>9(2)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAAGATCTCTGGCAGTGGAGG	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2126	Insertion - Frameshift(2124)|Complex - frameshift(2)	haematopoietic_and_lymphoid_tissue(2126)	5																																								170770152	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837546_170837547insTGTA	ENSP00000296930:p.Trp288fs								170770151				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.862_863	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770152	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TGTA	TGTA	170837547	-	TGTA	170837546	7	5	116	1	0	1	1	0	0	0	0	0	10587	1580	55	0	917	0	NPM1	5	170837546	Frame_Shift_Ins	INS	-	TCGA-AB-2924-03A-01W-0745-08	116115790	170837546	10077714	3	1311											
DMRT3	58524	genome.wustl.edu	37	9	990602	990602	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr9:990602C>G	ENST00000190165.2	+	2	1054	c.1016C>G	c.(1015-1017)aCg>aGg	p.T339R		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	339					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GTCCCAGACACGTTGAGGTTT	0.592																																						dbGAP											0			9											108	100	103					9																	990602		2203	4300	6503	980602	SO:0001583	missense	0			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"testis-specific protein"	614754	"DMRT-like family A3"	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.1016C>G	9.37:g.990602C>G	ENSP00000190165:p.Thr339Arg	130	5.8	8					980602	21	32.26	10	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Missense_Mutation	SNP	HMMPfam_DM,HMMSmart_DM,PatternScan_DM_1,superfamily_DM_DNA_bd,HMMPfam_DMA	p.T339R	ENST00000190165.2	37	c.1016	CCDS6443.1	9	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232325	0.58777	.	.	ENSG00000064218	ENST00000190165	T	0.26373	1.74	4.95	4.95	0.65309	.	0.290155	0.33496	N	0.004856	T	0.36853	0.0982	L	0.29908	0.895	0.53688	D	0.999976	D	0.76494	0.999	D	0.63381	0.914	T	0.05767	-1.0865	10	0.27785	T	0.31	-31.3767	18.2198	0.89898	0.0:1.0:0.0:0.0	.	339	Q9NQL9	DMRT3_HUMAN	R	339	ENSP00000190165:T339R	ENSP00000190165:T339R	T	+	2	0	DMRT3	980602	1.000000	0.71417	0.934000	0.37439	0.794000	0.44872	7.095000	0.76952	2.308000	0.77769	0.561000	0.74099	ACG	-	NULL		0.592	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT3	protein_coding	OTTHUMT00000051490.1	C	NM_021240		980602	1	no_errors	NM_021240.2	genbank	human	validated	54_36p	missense	SNP	0.998	G	G	990602	C	G	990602	3	3	116	1	0	0	0	0	1	0	0	0	4587	536	19	4	1022	4	DMRT3	9	990602	Missense_Mutation	SNP	C	TCGA-AB-2924-03A-01W-0745-08		990602	140222829	4	1312											
VWCE	220001	genome.wustl.edu	37	11	61045882	61045882	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr11:61045882delG	ENST00000335613.5	-	10	1777	c.1391delC	c.(1390-1392)accfs	p.T464fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	464	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GACACAGACGGTGCAGTTCTC	0.493																																						dbGAP											0			11											158	134	142					11																	61045882		2203	4299	6502	60802458	SO:0001589	frameshift_variant	0			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.1391delC	11.37:g.61045882delG	ENSP00000334186:p.Thr464fs	251	0	0		1	0	0	60802458	75	0	0	A5PKV0|Q7Z7L6|Q86WK8	Frame_Shift_Del	DEL	PatternScan_ASX_HYDROXYL,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00179,HMMSmart_SM00181,HMMSmart_SM00215,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_EGF/Laminin	p.V465fs	ENST00000335613.5	37	c.1391	CCDS8002.1	11																																																																																			-	HMMPfam_VWC,HMMSmart_SM00214,HMMSmart_SM00215		0.493	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	protein_coding	OTTHUMT00000398811.1	G	NM_152718		60802458	-1	no_errors	NM_152718.2	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-	-	61045882	G	-	61045882	7	5	116	1	0	1	0	1	0	0	0	0	17242	1261	44	0	1520	0	VWCE	11	61045882	Frame_Shift_Del	DEL	G	TCGA-AB-2924-03A-01W-0745-08		61045882	73960634	5	1313											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	96	13.51	15		311	44.46	249	27490642	34	38.6	22	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	116	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2924-03A-01W-0745-08		28592642	86577236	6	1314											
DIO2	1734	genome.wustl.edu	37	14	80669394	80669394	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr14:80669394C>T	ENST00000557125.1	-	2	83	c.84G>A	c.(82-84)tgG>tgA	p.W28*	DIO2_ENST00000555750.1_Missense_Mutation_p.A190T|DIO2_ENST00000557010.1_Missense_Mutation_p.A154T|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A154T			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGGAAGTCAGCCACTGAGGAG	0.547											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0			14											56	61	59					14																	80669394		2104	4225	6329	79739147	SO:0001587	stop_gained	0			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"thyroxine deiodinase, type II", "deiodonase-2", "deiodinase-2"	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557125.1:c.84G>A	14.37:g.80669394C>T	ENSP00000450547:p.Trp28*	113	10.24	13	1200	1	0	0	79739147	30	50.79	32	B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Missense_Mutation	SNP	HMMPfam_T4_deiodinase	p.A190T	ENST00000557125.1	37	c.568		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.68|18.68	3.675963|3.675963	0.67928|0.67928	.|.	.|.	ENSG00000211448|ENSG00000211448	ENST00000438257;ENST00000557010;ENST00000555750|ENST00000557125	T;T;T|.	0.37058|.	1.22;1.22;1.22|.	5.67|5.67	5.67|5.67	0.87782|0.87782	Thioredoxin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000015|.	D|.	0.86887|.	0.6041|.	M|M	0.92077|0.92077	3.27|3.27	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.998;0.999;0.998|.	D|.	0.89252|.	0.3591|.	10|.	0.66056|.	D|.	0.02|.	.|.	19.7712|19.7712	0.96366|0.96366	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	190;154;190|.	Q92813-2;Q92813;G3V315|.	.;IOD2_HUMAN;.|.	T|X	154;154;190|28	ENSP00000405854:A154T;ENSP00000451419:A154T;ENSP00000450980:A190T|.	ENSP00000405854:A154T|.	A|W	-|-	1|3	0|0	DIO2|DIO2	79739147|79739147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	7.591000|7.591000	0.82666|0.82666	2.677000|2.677000	0.91161|0.91161	0.585000|0.585000	0.79938|0.79938	GCT|TGG	-	HMMPfam_T4_deiodinase		0.547	DIO2-010	PUTATIVE	basic	protein_coding	DIO2	protein_coding	OTTHUMT00000413753.1	C			79739147	-1	pseudogene	NM_001007023.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	80669394	C	T	80669394	4	4	116	1	0	0	0	0	0	1	0	0	4525	739	26	2	365	2	DIO2	14	80669394	Nonsense_Mutation	SNP	C	TCGA-AB-2924-03A-01W-0745-08		80669394	26680146	7	1315											
BCMO1	53630	genome.wustl.edu	37	16	81293292	81293292	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr16:81293292T>G	ENST00000258168.2	+	3	666	c.205T>G	c.(205-207)Tac>Gac	p.Y69D	BCMO1_ENST00000564552.1_Missense_Mutation_p.Y69D|BCMO1_ENST00000425577.2_Intron	NM_017429.2	NP_059125.2														breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGAAGTCTATTACAGGAGCAA	0.463																																						dbGAP											0			16											100	85	90					16																	81293292		2202	4300	6502	79850793	SO:0001583	missense	0																														ENST00000258168.2:c.205T>G	16.37:g.81293292T>G	ENSP00000258168:p.Tyr69Asp	191	10.75	23					79850793	30	47.46	28		Missense_Mutation	SNP	HMMPfam_RPE65	p.Y69D	ENST00000258168.2	37	c.205	CCDS10934.1	16	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627542	0.46944	.	.	ENSG00000135697	ENST00000258168	D	0.96587	-4.06	5.41	5.41	0.78517	.	0.468764	0.24843	N	0.035152	D	0.98353	0.9453	M	0.93283	3.4	0.80722	D	1	D	0.63046	0.992	P	0.60789	0.879	D	0.99556	1.0967	10	0.87932	D	0	-13.3108	15.5059	0.75739	0.0:0.0:0.0:1.0	.	69	Q9HAY6	BCDO1_HUMAN	D	69	ENSP00000258168:Y69D	ENSP00000258168:Y69D	Y	+	1	0	BCMO1	79850793	0.999000	0.42202	0.919000	0.36401	0.331000	0.28603	3.140000	0.50585	2.072000	0.62099	0.524000	0.50904	TAC	-	HMMPfam_RPE65		0.463	BCMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCMO1	protein_coding	OTTHUMT00000269056.1	T			79850793	1	no_errors	NM_017429.2	genbank	human	reviewed	54_36p	missense	SNP	0.938	G	G	81293292	T	G	81293292	3	3	116	1	0	0	0	0	1	0	0	0	1384	1754	61	5	215	5	BCMO1	16	81293292	Missense_Mutation	SNP	T	TCGA-AB-2924-03A-01W-0745-08		81293292	9061461	8	1316											
KRT27	342574	genome.wustl.edu	37	17	38938537	38938537	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr17:38938537G>A	ENST00000301656.3	-	1	249	c.209C>T	c.(208-210)gCt>gTt	p.A70V		NM_181537.3	NP_853515.2			keratin 27									p.A70V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGTGAAGGCAGCACAGGAAGC	0.587																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)	17											120	103	109					17																	38938537		2203	4300	6503	36192063	SO:0001583	missense	0			AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"-", "Intermediate filaments type I, keratins (acidic)"	30841	protein-coding gene	gene with protein product			"keratin 25C"	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.209C>T	17.37:g.38938537G>A	ENSP00000301656:p.Ala70Val	148	5.7	9					36192063	35	50	35		Missense_Mutation	SNP	HMMPfam_Filament	p.A70V	ENST00000301656.3	37	c.209	CCDS11375.1	17	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432414	0.25813	.	.	ENSG00000171446	ENST00000301656	D	0.82893	-1.66	5.54	3.45	0.39498	.	0.811143	0.11150	N	0.594244	T	0.74869	0.3773	L	0.55017	1.72	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.59600	-0.7424	10	0.27785	T	0.31	.	2.2637	0.04073	0.1683:0.2894:0.4021:0.1402	.	70	Q7Z3Y8	K1C27_HUMAN	V	70	ENSP00000301656:A70V	ENSP00000301656:A70V	A	-	2	0	KRT27	36192063	0.000000	0.05858	0.002000	0.10522	0.131000	0.20780	0.858000	0.27845	0.713000	0.32060	0.655000	0.94253	GCT	-	NULL		0.587	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT27	protein_coding	OTTHUMT00000257216.1	G	NM_181537		36192063	-1	no_errors	NM_181537.3	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	38938537	G	A	38938537	3	1	116	1	0	0	0	0	1	0	0	0	8464	971	34	2	1202	2	KRT27	17	38938537	Missense_Mutation	SNP	G	TCGA-AB-2924-03A-01W-0745-08		38938537	42256673	9	1317											
PHLPP1	23239	genome.wustl.edu	37	18	60497429	60497429	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr18:60497429G>C	ENST00000262719.5	+	2	1972	c.1738G>C	c.(1738-1740)Gga>Cga	p.G580R	PHLPP1_ENST00000400316.4_Missense_Mutation_p.G68R			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	580	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CAGCTTGACCGGAAAGATGCA	0.448																																						dbGAP											0			18											100	97	98					18																	60497429		2049	4191	6240	58648409	SO:0001583	missense	0			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent", "Pleckstrin homology (PH) domain containing"	20610	protein-coding gene	gene with protein product		609396	"pleckstrin homology domain containing, family E (with leucine rich repeats) member 1", "PH domain and leucine rich repeat protein phosphatase"	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.1738G>C	18.37:g.60497429G>C	ENSP00000262719:p.Gly580Arg	331	6.76	24		16	55.56	20	58648409	75	36.59	45	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMPfam_PH,HMMSmart_SM00332,superfamily_Protein serine/threonine phosphatase 2C catalytic domain,HMMSmart_SM00369,HMMPfam_PP2C,HMMSmart_SM00364,superfamily_L domain-like	p.G68R	ENST00000262719.5	37	c.202	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	29.9	5.049573	0.93740	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.40756	1.02;1.02	4.98	4.98	0.66077	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.	.	.	.	T	0.56963	0.2021	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.46062	-0.9218	9	0.17369	T	0.5	-12.8033	18.4367	0.90649	0.0:0.0:1.0:0.0	.	580	O60346	PHLP1_HUMAN	R	68;580	ENSP00000383170:G68R;ENSP00000262719:G580R	ENSP00000262719:G580R	G	+	1	0	PHLPP1	58648409	1.000000	0.71417	0.932000	0.37286	0.975000	0.68041	9.657000	0.98554	2.590000	0.87494	0.555000	0.69702	GGA	-	HMMPfam_PH		0.448	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP	protein_coding	OTTHUMT00000319249.2	G	NM_194449		58648409	1	no_errors	NM_194449.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	60497429	G	C	60497429	3	2	116	1	0	0	0	0	1	0	0	0	11854	1117	39	4	1744	4	PHLPP1	18	60497429	Missense_Mutation	SNP	G	TCGA-AB-2924-03A-01W-0745-08		60497429	17579819	10	1318											
MUC16	94025	genome.wustl.edu	37	19	9084715	9084715	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2924-03A-01W-0745-08	TCGA-AB-2924-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16d51cf8-f922-4c2b-ac3f-744064cb04f4	207d9855-296b-4155-9e3a-6011d6102505	g.chr19:9084715C>T	ENST00000397910.4	-	1	7303	c.7100G>A	c.(7099-7101)aGc>aAc	p.S2367N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2367	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAAGAACTGCTATCTGAGGG	0.433																																						dbGAP											0			19											151	147	148					19																	9084715		1951	4137	6088	8945715	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"Mucins"	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.7100G>A	19.37:g.9084715C>T	ENSP00000381008:p.Ser2367Asn	530	7.34	42					8945715	144	40	96	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain	p.S2367N	ENST00000397910.4	37	c.7100	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	1.475	-0.558784	0.03967	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	0.225	0.225	0.15325	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	.	.	.	P	0.51449	0.945	P	0.51866	0.682	T	0.47058	-0.9146	7	0.87932	D	0	.	.	.	.	.	2367	B5ME49	.	N	2367	ENSP00000381008:S2367N	ENSP00000381008:S2367N	S	-	2	0	MUC16	8945715	0.006000	0.16342	0.016000	0.15963	0.016000	0.09150	0.673000	0.25203	0.300000	0.22699	0.305000	0.20034	AGC	-	NULL		0.433	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	C	NM_024690		8945715	-1	no_errors	NM_024690.2	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	9084715	C	T	9084715	3	4	116	1	0	0	0	0	1	0	0	0	9973	797	28	2	36759	2	MUC16	19	9084715	Missense_Mutation	SNP	C	TCGA-AB-2924-03A-01W-0745-08		9084715	50044268	11	1319											
KPRP	448834	genome.wustl.edu	37	1	152733801	152733801	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr1:152733801T>G	ENST00000606109.1	+	1	1765	c.1737T>G	c.(1735-1737)ttT>ttG	p.F579L	KPRP_ENST00000368773.1_Missense_Mutation_p.F579L			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	579						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCTTATTTTTAAAGGAAAG	0.478																																						dbGAP											0			1											36	38	37					1																	152733801		2203	4299	6502	151000425	SO:0001583	missense	0			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"chromosome 1 open reading frame 45"	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.1737T>G	1.37:g.152733801T>G	ENSP00000475216:p.Phe579Leu	47	0	0					151000425	76	34.48	40		Missense_Mutation	SNP	NULL	p.F579L	ENST00000606109.1	37	c.1737	CCDS30862.1	1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722431	0.48728	.	.	ENSG00000203786	ENST00000368773	T	0.14144	2.53	4.48	2.19	0.27852	.	0.000000	0.44285	D	0.000466	T	0.09024	0.0223	L	0.46157	1.445	0.28808	N	0.898419	D	0.56035	0.974	P	0.54499	0.754	T	0.06058	-1.0848	10	0.87932	D	0	.	5.7069	0.17913	0.0:0.2158:0.0:0.7842	.	579	Q5T749	KPRP_HUMAN	L	579	ENSP00000357762:F579L	ENSP00000357762:F579L	F	+	3	2	KPRP	151000425	1.000000	0.71417	0.987000	0.45799	0.059000	0.15707	0.432000	0.21461	0.853000	0.35312	-0.736000	0.03550	TTT	-	NULL		0.478	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPRP	protein_coding	OTTHUMT00000034522.2	T	NM_001025231		151000425	1	no_errors	NM_001025231.1	genbank	human	provisional	54_36p	missense	SNP	0.976	G	G	152733801	T	G	152733801	3	3	117	1	0	0	0	0	1	0	0	0	8436	1838	64	5	1739	5	KPRP	1	152733801	Missense_Mutation	SNP	T	TCGA-AB-2925-03A-01W-0732-08		152733801	96516820	1	1320											
CFHR2	3080	genome.wustl.edu	37	1	196918613	196918613	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr1:196918613C>G	ENST00000367415.5	+	2	187	c.87C>G	c.(85-87)aaC>aaG	p.N29K	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Missense_Mutation_p.N29K|CFHR2_ENST00000367421.3_Missense_Mutation_p.N29K	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	29	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CAAAAATAAACCATGGAATTC	0.289																																						dbGAP											0			1											51	53	52					1																	196918613		2200	4300	6500	195185236	SO:0001583	missense	0			X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"Complement system"	4890	protein-coding gene	gene with protein product		600889	"H factor (complement)-like 3"	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.87C>G	1.37:g.196918613C>G	ENSP00000356385:p.Asn29Lys	107	2.73	3		0	0	0	195185236	97	32.17	46	Q14310|Q5T9T1	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain	p.N29K	ENST00000367415.5	37	c.87	CCDS30959.1	1	.	.	.	.	.	.	.	.	.	.	C	0	-2.751044	0.00086	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.64438	-0.1;-0.1	3.33	-6.66	0.01789	Complement control module (2);Sushi/SCR/CCP (2);	0.458259	0.16041	N	0.232426	T	0.29652	0.0740	N	0.05534	-0.03	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15694	-1.0428	10	0.05436	T	0.98	.	10.6204	0.45476	0.1529:0.6734:0.1736:0.0	.	29	P36980	FHR2_HUMAN	K	29	ENSP00000356391:N29K;ENSP00000356385:N29K	ENSP00000356385:N29K	N	+	3	2	CFHR2	195185236	0.000000	0.05858	0.015000	0.15790	0.060000	0.15804	-4.971000	0.00164	-3.851000	0.00099	-1.913000	0.00520	AAC	-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.289	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR2	protein_coding	OTTHUMT00000088815.2	C	NM_005666		195185236	1	no_errors	NM_005666.2	genbank	human	validated	54_36p	missense	SNP	0.059	G	G	196918613	C	G	196918613	3	3	117	1	0	0	0	0	1	0	0	0	3285	506	18	4	93	4	CFHR2	1	196918613	Missense_Mutation	SNP	C	TCGA-AB-2925-03A-01W-0732-08	44184812	196918613	52332008	2	1321											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	41	2.38	1		14	58.82	20	25310746	64	42.34	47	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	117	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2925-03A-01W-0732-08		25457242	217742131	3	1322											
BMP10	27302	genome.wustl.edu	37	2	69092806	69092806	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr2:69092806A>T	ENST00000295379.1	-	2	1390	c.1232T>A	c.(1231-1233)tTt>tAt	p.F411Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	411					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTCGTATTTAAACTTGTAGGT	0.433																																						dbGAP											0			2											130	132	131					2																	69092806		2203	4300	6503	68946310	SO:0001583	missense	0			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"Bone morphogenetic proteins", "Endogenous ligands"	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.1232T>A	2.37:g.69092806A>T	ENSP00000295379:p.Phe411Tyr	91	1.09	1					68946310	101	38.04	62	Q53R17|Q6NTE0	Missense_Mutation	SNP	HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501	p.F411Y	ENST00000295379.1	37	c.1232	CCDS1890.1	2	.	.	.	.	.	.	.	.	.	.	A	6.692	0.496219	0.12762	.	.	ENSG00000163217	ENST00000295379	D	0.83506	-1.73	6.17	6.17	0.99709	Transforming growth factor-beta, C-terminal (3);	0.047423	0.85682	D	0.000000	T	0.64046	0.2563	N	0.02192	-0.645	0.49798	D	0.999821	B	0.26147	0.143	B	0.27262	0.078	T	0.64487	-0.6396	10	0.11794	T	0.64	.	16.0034	0.80327	1.0:0.0:0.0:0.0	.	411	O95393	BMP10_HUMAN	Y	411	ENSP00000295379:F411Y	ENSP00000295379:F411Y	F	-	2	0	BMP10	68946310	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	6.775000	0.75018	2.371000	0.80710	0.533000	0.62120	TTT	-	HMMPfam_TGF_beta,HMMSmart_TGFB,superfamily_SSF57501		0.433	BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP10	protein_coding	OTTHUMT00000251768.1	A	NM_014482		68946310	-1	no_errors	NM_014482.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	69092806	A	T	69092806	3	4	117	1	0	0	0	0	1	0	0	0	1457	14	1	5	46	5	BMP10	2	69092806	Missense_Mutation	SNP	A	TCGA-AB-2925-03A-01W-0732-08	43635564	69092806	174106567	4	1323											
TTN	7273	genome.wustl.edu	37	2	179516225	179516225	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr2:179516225C>T	ENST00000591111.1	-	162	35205	c.34981G>A	c.(34981-34983)Gtg>Atg	p.V11661M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10734M|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V13168M|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11661	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAGAGGCACCTTCTTTTCA	0.468																																						dbGAP											0			2											65	62	63					2																	179516225		1838	4080	5918	179224470	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34981G>A	2.37:g.179516225C>T	ENSP00000465570:p.Val11661Met	54	1.82	1					179224470	38	41.54	27	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_DH-domain,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_PPAK,superfamily_FN_III-like,superfamily_ConA_like_lec_gl,superfamily_Man6php_recept,HMMPfam_I-set,HMMPfam_ig,PatternScan_FGGY_KINASES_1,superfamily_SSF48726	p.V885M	ENST00000591111.1	37	c.2653		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.67|12.67	2.007099|2.007099	0.35415|0.35415	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000426232|ENST00000342992;ENST00000429997;ENST00000446966	.|T;T	.|0.77358	.|-1.09;-1.09	5.22|5.22	4.32|4.32	0.51571|0.51571	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	T|T	0.73814|0.73814	0.3635|0.3635	M|M	0.71871|0.71871	2.18|2.18	0.80722|0.80722	D|D	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.14023	.|0.01	T|T	0.74022|0.74022	-0.3798|-0.3798	5|9	.|0.87932	.|D	.|0	.|.	7.2433|7.2433	0.26107|0.26107	0.1512:0.7101:0.0:0.1386|0.1512:0.7101:0.0:0.1386	.|.	.|11661	.|Q8WZ42	.|TITIN_HUMAN	D|M	8|10734;7;7	.|ENSP00000343764:V10734M;ENSP00000408004:V7M	.|ENSP00000343764:V10734M	G|V	-|-	2|1	0|0	TTN|TTN	179224470|179224470	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	-0.152000|-0.152000	0.10159|0.10159	2.590000|2.590000	0.87494|0.87494	0.650000|0.650000	0.86243|0.86243	GGT|GTG	-	superfamily_DH-domain,HMMPfam_PPAK		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179224470	-1	no_stop_codon	ENST00000342992	ensembl	human	known	54_36p	missense	SNP	0.999	T	T	179516225	C	T	179516225	3	4	117	1	0	0	0	0	1	0	0	0	16732	507	18	2	68393	2	TTN	2	179516225	Missense_Mutation	SNP	C	TCGA-AB-2925-03A-01W-0732-08	110423419	179516225	63683148	5	1324											
GATA2	2624	genome.wustl.edu	37	3	128200151	128200151	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr3:128200151G>A	ENST00000341105.2	-	6	1485	c.1154C>T	c.(1153-1155)cCa>cTa	p.P385L	GATA2_ENST00000430265.2_Missense_Mutation_p.P371L|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.P385L	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	385					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CATGGTCAGTGGCCTGTTAAC	0.562			Mis		AML(CML blast transformation)																																	dbGAP		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0			3											84	85	84					3																	128200151		2203	4300	6503	129682841	SO:0001583	missense	0			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1154C>T	3.37:g.128200151G>A	ENSP00000345681:p.Pro385Leu	54	0	0		11	89.42	93	129682841	54	43.16	41	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716	p.P385L	ENST00000341105.2	37	c.1154	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406031	0.83230	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99741	-6.6;-6.32;-6.6	4.77	4.77	0.60923	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (2);	0.052768	0.85682	D	0.000000	D	0.99837	0.9926	H	0.96943	3.91	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.96559	0.9414	10	0.87932	D	0	-9.8711	18.1584	0.89701	0.0:0.0:1.0:0.0	.	371;385	P23769-2;P23769	.;GATA2_HUMAN	L	385;371;385	ENSP00000345681:P385L;ENSP00000400259:P371L;ENSP00000417074:P385L	ENSP00000345681:P385L	P	-	2	0	GATA2	129682841	1.000000	0.71417	0.966000	0.40874	0.930000	0.56654	9.748000	0.98867	2.355000	0.79922	0.491000	0.48974	CCA	-	HMMSmart_ZnF_GATA,superfamily_SSF57716		0.562	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	protein_coding	OTTHUMT00000356925.1	G	NM_032638		129682841	-1	no_errors	NM_032638.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	128200151	G	A	128200151	3	1	117	1	0	0	0	0	1	0	0	0	6254	1348	47	2	292	2	GATA2	3	128200151	Missense_Mutation	SNP	G	TCGA-AB-2925-03A-01W-0732-08		128200151	69822279	6	1325											
SLC27A6	28965	genome.wustl.edu	37	5	128351606	128351606	+	Missense_Mutation	SNP	G	G	A	rs145458325	byFrequency	TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr5:128351606G>A	ENST00000262462.4	+	5	2008	c.998G>A	c.(997-999)cGt>cAt	p.R333H	SLC27A6_ENST00000395266.1_Missense_Mutation_p.R333H|SLC27A6_ENST00000506176.1_Missense_Mutation_p.R333H			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	333					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATAAGGTGCGTTTGGCAATT	0.323													G|||	4	0.000798722	0.003	0	5008	,	,		16252	0		0	False		,,,				2504	0					dbGAP											0			5						G	HIS/ARG,HIS/ARG	13,4393	20.2+/-43.8	0,13,2190	120	123	122		998,998	2.2	0.5	5	dbSNP_134	122	0,8600		0,0,4300	yes	missense,missense	SLC27A6	NM_001017372.1,NM_014031.3	29,29	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	possibly-damaging,possibly-damaging	333/620,333/620	128351606	13,12993	2203	4300	6503	128379505	SO:0001583	missense	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"Acyl-CoA synthetase family", "Solute carriers"	11000	protein-coding gene	gene with protein product	"fatty-acid-Coenzyme A ligase, very long-chain 2"	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.998G>A	5.37:g.128351606G>A	ENSP00000262462:p.Arg333His	171	1.71	3		0	100	2	128379505	89	38.62	56	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_SSF56801	p.R333H	ENST00000262462.4	37	c.998	CCDS4145.1	5	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	14.58	2.577264	0.45902	0.002951	0.0	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	4.03	2.25	0.28309	AMP-dependent synthetase/ligase (1);	0.112951	0.56097	D	0.000028	T	0.63283	0.2498	M	0.76328	2.33	0.25613	N	0.986487	P	0.51537	0.946	P	0.56088	0.791	T	0.56619	-0.7949	9	.	.	.	-19.7912	10.8619	0.46831	0.1584:0.0:0.8416:0.0	.	333	Q9Y2P4	S27A6_HUMAN	H	152;333;333;333	ENSP00000421759:R152H;ENSP00000262462:R333H;ENSP00000378684:R333H;ENSP00000421024:R333H	.	R	+	2	0	SLC27A6	128379505	0.943000	0.32029	0.456000	0.27044	0.242000	0.25591	4.919000	0.63383	0.676000	0.31285	0.461000	0.40582	CGT	-	HMMPfam_AMP-binding,superfamily_SSF56801		0.323	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	protein_coding	OTTHUMT00000250980.1	G	NM_014031		128379505	1	no_errors	NM_001017372.1	genbank	human	reviewed	54_36p	missense	SNP	0.465	A	A	128351606	G	A	128351606	3	1	117	1	0	0	0	0	1	0	0	0	14530	1145	40	1	1016	1	SLC27A6	5	128351606	Missense_Mutation	SNP	G	TCGA-AB-2925-03A-01W-0732-08		128351606	52563654	7	1326											
GABBR1	2550	genome.wustl.edu	37	6	29581178	29581178	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr6:29581178C>A	ENST00000377034.4	-	12	1743	c.1408G>T	c.(1408-1410)Gcc>Tcc	p.A470S	GABBR1_ENST00000355973.3_Missense_Mutation_p.A353S|GABBR1_ENST00000377016.4_Missense_Mutation_p.A408S|GABBR1_ENST00000377012.4_Missense_Mutation_p.A353S|GABBR1_ENST00000376977.3_Missense_Mutation_p.A470S	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	470					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GCATCATAGGCCAGCGGTGCC	0.547																																						dbGAP											0			6											120	126	124					6																	29581178		1509	2709	4218	29689157	SO:0001583	missense	0			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"GABA receptors", "GPCR / Class C : GABA(B) receptors"	4070	protein-coding gene	gene with protein product	"GABA-B receptor"	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1408G>T	6.37:g.29581178C>A	ENSP00000366233:p.Ala470Ser	82	2.38	2		35	52.7	39	29689157	100	42.86	75	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_ANF_receptor,superfamily_Complement control module/SCR domain,HMMPfam_7tm_3,superfamily_Periplasmic binding protein-like I	p.A470S	ENST00000377034.4	37	c.1408	CCDS4663.1	6	.	.	.	.	.	.	.	.	.	.	C	34	5.368247	0.95900	.	.	ENSG00000204681	ENST00000355973;ENST00000376977;ENST00000377016;ENST00000377012;ENST00000377034	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	5.84	5.84	0.93424	Extracellular ligand-binding receptor (1);	0.052264	0.85682	D	0.000000	D	0.88100	0.6346	M	0.79805	2.47	0.80722	D	1	P;P;P;P	0.48998	0.918;0.669;0.537;0.822	P;B;P;P	0.49999	0.628;0.423;0.45;0.492	D	0.89539	0.3791	10	0.87932	D	0	-29.4237	17.64	0.88133	0.0:1.0:0.0:0.0	.	470;408;470;353	Q9UBS5-5;Q9UBS5-3;Q9UBS5;Q5SUJ9	.;.;GABR1_HUMAN;.	S	353;470;408;353;470	ENSP00000348248:A353S;ENSP00000366176:A470S;ENSP00000366215:A408S;ENSP00000366211:A353S;ENSP00000366233:A470S	ENSP00000348248:A353S	A	-	1	0	GABBR1	29689157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.421000	0.80204	2.769000	0.95229	0.655000	0.94253	GCC	-	HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I		0.547	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR1	protein_coding	OTTHUMT00000076141.3	C			29689157	-1	no_errors	NM_001470.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	29581178	C	A	29581178	3	1	117	1	0	0	0	0	1	0	0	0	6155	739	26	4	1525	4	GABBR1	6	29581178	Missense_Mutation	SNP	C	TCGA-AB-2925-03A-01W-0732-08		29581178	141533889	8	1327											
HECW1	23072	genome.wustl.edu	37	7	43601458	43601458	+	Missense_Mutation	SNP	C	C	T	rs367929468		TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr7:43601458C>T	ENST00000395891.2	+	30	5359	c.4754C>T	c.(4753-4755)tCg>tTg	p.S1585L	HECW1_ENST00000453890.1_Missense_Mutation_p.S1551L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1585	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGTATCCCTCGTACTCCATG	0.478																																						dbGAP											0			7						C	LEU/SER	1,4039		0,1,2019	144	140	142		4754	5.9	0.9	7		142	0,8398		0,0,4199	no	missense	HECW1	NM_015052.3	145	0,1,6218	TT,TC,CC		0.0,0.0248,0.0080	probably-damaging	1585/1607	43601458	1,12437	2020	4199	6219	43567983	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4754C>T	7.37:g.43601458C>T	ENSP00000379228:p.Ser1585Leu	61	3.12	2					43567983	87	37.86	53	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT,HMMPfam_WW,HMMSmart_WW,PatternScan_WW_DOMAIN_1,superfamily_WW_Rsp5_WWP,superfamily_C2_CaLB	p.S1585L	ENST00000395891.2	37	c.4754	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956237	0.92726	2.48E-4	0.0	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.56941	0.43;0.43	5.93	5.93	0.95920	HECT (4);	0.000000	0.85682	D	0.000000	T	0.81880	0.4916	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	D	0.85879	0.1421	10	0.87932	D	0	.	20.3495	0.98807	0.0:1.0:0.0:0.0	.	1551;1585	B4DH42;Q76N89	.;HECW1_HUMAN	L	1585;1551;1585	ENSP00000379228:S1585L;ENSP00000407774:S1551L	ENSP00000265522:S1585L	S	+	2	0	HECW1	43567983	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.802000	0.85969	2.814000	0.96858	0.591000	0.81541	TCG	-	HMMPfam_HECT,HMMSmart_HECTc,superfamily_HECT		0.478	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	protein_coding	OTTHUMT00000250893.2	C	NM_015052		43567983	1	no_errors	NM_015052.3	genbank	human	validated	54_36p	missense	SNP	0.985	T	T	43601458	C	T	43601458	3	4	117	1	0	0	0	0	1	0	0	0	7042	893	31	1	4864	1	HECW1	7	43601458	Missense_Mutation	SNP	C	TCGA-AB-2925-03A-01W-0732-08		43601458	115537205	9	1328											
GRM3	2913	genome.wustl.edu	37	7	86415970	86415970	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr7:86415970G>A	ENST00000361669.2	+	3	1961	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.A288T|GRM3_ENST00000394720.2_Missense_Mutation_p.A286T|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.A160T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	288					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CATTGCAGCCGCCAGCCGCGC	0.662																																					GBM(52;969 1098 3139 52280)	dbGAP											0			7											31	36	34					7																	86415970		2199	4288	6487	86253906	SO:0001583	missense	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.862G>A	7.37:g.86415970G>A	ENSP00000355316:p.Ala288Thr	7	0	0					86253906	13	59.38	19	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I	p.A288T	ENST00000361669.2	37	c.862	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254724	0.80135	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	6.07	6.07	0.98685	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.88945	0.6575	L	0.38733	1.17	0.80722	D	1	P;D;P	0.71674	0.68;0.998;0.859	B;P;B	0.56612	0.167;0.802;0.437	D	0.87485	0.2423	10	0.40728	T	0.16	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	160;288;288	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	T	288;160;160;288;286	ENSP00000355316:A288T;ENSP00000405427:A160T;ENSP00000441407:A160T;ENSP00000398767:A288T;ENSP00000378209:A286T	ENSP00000355316:A288T	A	+	1	0	GRM3	86253906	1.000000	0.71417	0.970000	0.41538	0.950000	0.60333	9.756000	0.98918	2.885000	0.99019	0.655000	0.94253	GCC	-	HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I		0.662	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G			86253906	1	no_errors	NM_000840.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	A	A	86415970	G	A	86415970	3	1	117	1	0	0	0	0	1	0	0	0	6798	1087	38	1	868	1	GRM3	7	86415970	Missense_Mutation	SNP	G	TCGA-AB-2925-03A-01W-0732-08	42814512	86415970	72722693	10	1329											
CSMD1	64478	genome.wustl.edu	37	8	3081337	3081337	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr8:3081337G>T	ENST00000520002.1	-	29	4956	c.4401C>A	c.(4399-4401)aaC>aaA	p.N1467K	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000537824.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N1467K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N1467K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N1466K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N1467K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1467	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTGTGGGTAGTTGGGTGACA	0.483																																						dbGAP											0			8											73	77	76					8																	3081337		1890	4119	6009	3068744	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	14026	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 24"	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.4401C>A	8.37:g.3081337G>T	ENSP00000430733:p.Asn1467Lys	74	2.63	2					3068744	37	47.14	33	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,superfamily_Complement control module/SCR domain	p.L1468I	ENST00000520002.1	37	c.4402		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.3|23.3	4.395952|4.395952	0.83011|0.83011	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.34859	.|1.34;1.34;1.34;1.34;1.34	5.08|5.08	5.08|5.08	0.68730|0.68730	.|CUB (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68677|0.68677	0.3027|0.3027	M|M	0.89840|0.89840	3.065|3.065	0.58432|0.58432	D|D	0.999998|0.999998	.|D;P;D	.|0.89917	.|0.999;0.951;1.0	.|D;P;D	.|0.91635	.|0.996;0.792;0.999	T|T	0.75964|0.75964	-0.3132|-0.3132	5|10	.|0.66056	.|D	.|0.02	.|.	18.8339|18.8339	0.92153|0.92153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1467;1467;1467	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	I|K	947|1467;1467;1329;1466;1466;1466	.|ENSP00000383047:N1467K;ENSP00000430733:N1467K;ENSP00000441462:N1466K;ENSP00000446243:N1466K;ENSP00000441675:N1466K	.|ENSP00000320445:N1329K	L|N	-|-	1|3	2|2	CSMD1|CSMD1	3068744|3068744	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.281000|5.281000	0.65609|0.65609	2.508000|2.508000	0.84585|0.84585	0.650000|0.650000	0.86243|0.86243	CTA|AAC	-	NULL		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	protein_coding	OTTHUMT00000374500.2	G	NM_033225		3068744	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_033225.4	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	3081337	G	T	3081337	3	4	117	1	0	0	0	0	1	0	0	0	3944	1020	36	4	6468	4	CSMD1	8	3081337	Missense_Mutation	SNP	G	TCGA-AB-2925-03A-01W-0732-08		3081337	143282685	11	1330											
CACNA1B	774	genome.wustl.edu	37	9	141015927	141015927	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr9:141015927G>T	ENST00000371372.1	+	47	6641	c.6496G>T	c.(6496-6498)Ggt>Tgt	p.G2166C	CACNA1B_ENST00000371357.1_Missense_Mutation_p.G2165C|CACNA1B_ENST00000277549.5_Missense_Mutation_p.G1360C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.G2167C|CACNA1B_ENST00000277551.2_Intron|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G2164C	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2166					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAGGGCAGTGGTTCCGTGAA	0.572																																						dbGAP											0			9											39	42	41					9																	141015927		1917	4111	6028	140135748	SO:0001583	missense	0			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.6496G>T	9.37:g.141015927G>T	ENSP00000360423:p.Gly2166Cys	10	0	0					140135748	9	74.29	26	B1AQK5	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.G2166C	ENST00000371372.1	37	c.6496	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	19.22	3.785893	0.70337	.	.	ENSG00000148408	ENST00000371372;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.97455	-4.16;-4.39;-4.17;-4.15;-4.15	5.0	5.0	0.66597	.	0.059518	0.64402	D	0.000002	D	0.98194	0.9403	M	0.69823	2.125	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.99410	1.0930	10	0.72032	D	0.01	.	18.2798	0.90096	0.0:0.0:1.0:0.0	.	2165;2164	B1AQK7;B1AQK6	.;.	C	2166;1360;2164;2165;2167	ENSP00000360423:G2166C;ENSP00000277549:G1360C;ENSP00000360414:G2164C;ENSP00000360408:G2165C;ENSP00000360406:G2167C	ENSP00000277549:G1360C	G	+	1	0	CACNA1B	140135748	1.000000	0.71417	0.516000	0.27786	0.701000	0.40568	6.479000	0.73600	2.319000	0.78375	0.561000	0.74099	GGT	-	NULL		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140135748	1	no_errors	NM_000718.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	141015927	G	T	141015927	3	4	117	1	0	0	0	0	1	0	0	0	2539	1348	47	4	6678	4	CACNA1B	9	141015927	Missense_Mutation	SNP	G	TCGA-AB-2925-03A-01W-0732-08		141015927	197504	12	1331											
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	-	-	-	ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	ENST00000241453.7	-	14	1881_1882	c.1800_1801insAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGATctc	p.599_600insDNEYFYVDFREYEY	FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDNEYFYVDFREYEY|FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDNEYFYVDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1759_1800dupAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	ENSP00000241453:p.Asp586_Tyr599dup								27506255				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insNEYFYVDFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	28608256	-	ATCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATT	28608255	7	5	117	1	0	1	1	0	0	0	0	0	5942	942	33	0	1224	0	FLT3	13	28608255	In_Frame_Ins	INS	-	TCGA-AB-2925-03A-01W-0732-08		28608255	86561623	13	1332											
RFC3	5983	genome.wustl.edu	37	13	34404083	34404083	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr13:34404083A>C	ENST00000380071.3	+	5	632	c.502A>C	c.(502-504)Aca>Cca	p.T168P	RFC3_ENST00000434425.1_Missense_Mutation_p.T168P|RNU5A-4P_ENST00000516588.1_RNA	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	168					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to organophosphorus (GO:0046683)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	DNA clamp loader activity (GO:0003689)			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		CTGCAATTCTACATCTAAAGT	0.433																																						dbGAP											0			13											199	170	180					13																	34404083		2203	4300	6503	33302083	SO:0001583	missense	0				CCDS9352.1, CCDS45025.1	13q13.2	2010-04-21	2002-08-29		ENSG00000133119	ENSG00000133119		"ATPases / AAA-type"	9971	protein-coding gene	gene with protein product	"RFC, 38 kD subunit", "A1 38 kDa subunit"	600405	"replication factor C (activator 1) 3 (38kD)"			7774928	Standard	NM_002915		Approved	RFC38, MGC5276	uc001uuz.3	P40938	OTTHUMG00000016715	ENST00000380071.3:c.502A>C	13.37:g.34404083A>C	ENSP00000369411:p.Thr168Pro	60	0	0		43	6.52	3	33302083	64	25.58	22	C9JU95|O15252|Q5W0E8	Missense_Mutation	SNP	HMMSmart_SM00382,superfamily_DNA polymerase III clamp loader subunits C-terminal domain,HMMPfam_RFC-E_C,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T168P	ENST00000380071.3	37	c.502	CCDS9352.1	13	.	.	.	.	.	.	.	.	.	.	A	15.86	2.956384	0.53293	.	.	ENSG00000133119	ENST00000380071;ENST00000434425	T;T	0.38077	1.16;1.16	5.48	5.48	0.80851	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.045251	0.85682	D	0.000000	T	0.47002	0.1422	L	0.43598	1.365	0.58432	D	0.999999	D;B;B	0.57571	0.98;0.003;0.001	P;B;B	0.62491	0.903;0.012;0.012	T	0.41288	-0.9517	10	0.48119	T	0.1	-11.2872	10.7623	0.46272	0.9235:0.0:0.0765:0.0	.	168;168;168	B4DKE6;C9JU95;P40938	.;.;RFC3_HUMAN	P	168	ENSP00000369411:T168P;ENSP00000401001:T168P	ENSP00000369411:T168P	T	+	1	0	RFC3	33302083	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.709000	0.68384	2.075000	0.62263	0.528000	0.53228	ACA	-	HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.433	RFC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC3	protein_coding	OTTHUMT00000044450.2	A	NM_002915		33302083	1	no_errors	NM_002915.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	34404083	A	C	34404083	3	2	117	1	0	0	0	0	1	0	0	0	13246	391	14	5	520	5	RFC3	13	34404083	Missense_Mutation	SNP	A	TCGA-AB-2925-03A-01W-0732-08	5795828	34404083	80765795	14	1333											
FAM154B	283726	genome.wustl.edu	37	15	82574525	82574525	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2925-03A-01W-0732-08	TCGA-AB-2925-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	daa3c116-e029-483c-b07b-201a76a9519b	1ce4cb83-af5a-440a-a61a-b4b9d1fd81b6	g.chr15:82574525C>T	ENST00000339465.5	+	3	388	c.319C>T	c.(319-321)Cct>Tct	p.P107S	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Missense_Mutation_p.P92S	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	107										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TTACCACCCGCCTACTGTGAA	0.363																																						dbGAP											0			15											93	99	97					15																	82574525		2203	4300	6503	80361580	SO:0001583	missense	0			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.319C>T	15.37:g.82574525C>T	ENSP00000340445:p.Pro107Ser	58	1.67	1					80361580	57	44.66	46	B4E2M2	Missense_Mutation	SNP	NULL	p.P107S	ENST00000339465.5	37	c.319	CCDS32310.1	15	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271324	0.23221	.	.	ENSG00000188659	ENST00000339465;ENST00000427381	T;T	0.16743	2.32;2.32	3.57	3.57	0.40892	.	0.079246	0.50627	D	0.000105	T	0.24122	0.0584	M	0.69185	2.1	0.39321	D	0.965246	P;P	0.52061	0.911;0.95	P;P	0.47162	0.54;0.54	T	0.17107	-1.0380	10	0.16420	T	0.52	-5.72	15.7179	0.77685	0.0:1.0:0.0:0.0	.	92;107	B4E2M2;Q658L1	.;F154B_HUMAN	S	107;92	ENSP00000340445:P107S;ENSP00000403743:P92S	ENSP00000340445:P107S	P	+	1	0	FAM154B	80361580	0.997000	0.39634	0.902000	0.35471	0.078000	0.17371	2.287000	0.43505	1.981000	0.57761	0.536000	0.68110	CCT	-	NULL		0.363	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	protein_coding	OTTHUMT00000419644.1	C	NM_001008226		80361580	1	no_errors	NM_001008226.1	genbank	human	predicted	54_36p	missense	SNP	0.990	T	T	82574525	C	T	82574525	3	4	117	1	0	0	0	0	1	0	0	0	5464	739	26	2	329	2	FAM154B	15	82574525	Missense_Mutation	SNP	C	TCGA-AB-2925-03A-01W-0732-08		82574525	19956867	15	1334											
RBBP4	5928	genome.wustl.edu	37	1	33138072	33138072	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr1:33138072G>A	ENST00000373493.5	+	9	1147	c.988G>A	c.(988-990)Gag>Aag	p.E330K	RBBP4_ENST00000544435.1_Missense_Mutation_p.E78K|RBBP4_ENST00000373485.1_Missense_Mutation_p.E330K|RBBP4_ENST00000414241.3_Missense_Mutation_p.E329K|RBBP4_ENST00000458695.2_Missense_Mutation_p.E295K	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	330					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				ACCTCACAATGAGACTATTTT	0.333																																						dbGAP											0			1											89	83	85					1																	33138072		2203	4299	6502	32910659	SO:0001583	missense	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"WD repeat domain containing"	9887	protein-coding gene	gene with protein product		602923	"retinoblastoma-binding protein 4"			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998	ENST00000373493.5:c.988G>A	1.37:g.33138072G>A	ENSP00000362592:p.Glu330Lys	132	6.34	9					32910659	103	44.21	84	B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.E330K	ENST00000373493.5	37	c.988	CCDS366.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.681733|4.681733	0.88542|0.88542	.|.	.|.	ENSG00000162521|ENSG00000162521	ENST00000414241;ENST00000373493;ENST00000544435;ENST00000373485;ENST00000458695;ENST00000482190|ENST00000463378	T;T;T;T;T;T|.	0.59906|.	0.23;0.23;0.23;0.23;0.23;0.23|.	4.69|4.69	4.69|4.69	0.59074|0.59074	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67449|0.67449	0.2894|0.2894	L|L	0.46885|0.46885	1.475|1.475	0.80722|0.80722	D|D	1|1	P;P|.	0.38551|.	0.555;0.636|.	B;P|.	0.46585|.	0.218;0.521|.	T|T	0.65134|0.65134	-0.6242|-0.6242	10|5	0.51188|.	T|.	0.08|.	.|.	16.9891|16.9891	0.86348|0.86348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;330|.	Q09028-2;Q09028|.	.;RBBP4_HUMAN|.	K|I	329;330;78;330;295;68|89	ENSP00000398242:E329K;ENSP00000362592:E330K;ENSP00000442384:E78K;ENSP00000362584:E330K;ENSP00000396057:E295K;ENSP00000436565:E68K|.	ENSP00000362584:E330K|.	E|M	+|+	1|3	0|0	RBBP4|RBBP4	32910659|32910659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.736000|9.736000	0.98828|0.98828	2.339000|2.339000	0.79563|0.79563	0.467000|0.467000	0.42956|0.42956	GAG|ATG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.333	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBBP4	protein_coding	OTTHUMT00000021957.3	G	NM_005610		32910659	1	no_errors	NM_005610.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	33138072	G	A	33138072	3	1	118	1	0	0	0	0	1	0	0	0	13101	1291	45	2	1022	2	RBBP4	1	33138072	Missense_Mutation	SNP	G	TCGA-AB-2926-03A-01W-0732-08		33138072	216112549	1	1335											
ZNF642	339559	genome.wustl.edu	37	1	40961520	40961520	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr1:40961520A>G	ENST00000372706.1	+	6	2376	c.1370A>G	c.(1369-1371)cAt>cGt	p.H457R	RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.H457R			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CTTAGCAACCATAAAACTGTT	0.413																																						dbGAP											0			1											84	82	83					1																	40961520		2203	4300	6503	40734107	SO:0001583	missense	0			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"Zinc fingers, C2H2-type", "-", "-", "-"	24708	protein-coding gene	gene with protein product	"ZFP69 zinc finger protein A"		"zinc finger protein 642"	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1370A>G	1.37:g.40961520A>G	ENSP00000361791:p.His457Arg	109	12	15					40734107	45	55	55	Q5SWM5|Q6ZWK8	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.H457R	ENST00000372706.1	37	c.1370	CCDS30686.1	1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592514	0.66219	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.34859	1.34;1.34	4.51	4.51	0.55191	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000634	T	0.67702	0.2921	M	0.93328	3.405	0.54753	D	0.99998	D	0.76494	0.999	D	0.83275	0.996	T	0.76427	-0.2963	10	0.87932	D	0	-12.5571	12.4448	0.55645	1.0:0.0:0.0:0.0	.	457	Q49AA0	ZN642_HUMAN	R	457	ENSP00000361791:H457R;ENSP00000361790:H457R	ENSP00000361790:H457R	H	+	2	0	ZNF642	40734107	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.220000	0.78008	2.248000	0.74166	0.459000	0.35465	CAT	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.413	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF642	protein_coding	OTTHUMT00000019082.1	A	NM_198494		40734107	1	no_errors	NM_198494.2	genbank	human	validated	54_36p	missense	SNP	0.957	G	G	40961520	A	G	40961520	3	3	118	1	0	0	0	0	1	0	0	0	18055	217	8	3	1388	3	ZNF642	1	40961520	Missense_Mutation	SNP	A	TCGA-AB-2926-03A-01W-0732-08	7823448	40961520	208289101	2	1336											
GCLM	2730	genome.wustl.edu	37	1	94362368	94362368	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr1:94362368C>T	ENST00000370238.3	-	5	592	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	GCLM_ENST00000467772.1_5'UTR	NM_002061.2	NP_002052.1	P48507	GSH0_HUMAN	glutamate-cysteine ligase, modifier subunit	116					apoptotic mitochondrial changes (GO:0008637)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of glutamate-cysteine ligase activity (GO:0035229)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	glutamate-cysteine ligase activity (GO:0004357)|glutamate-cysteine ligase catalytic subunit binding (GO:0035226)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_lung(203;0.000815)|Lung NSC(277;0.00363)		all cancers(265;0.00566)|GBM - Glioblastoma multiforme(16;0.0203)|Epithelial(280;0.131)	L-Cysteine(DB00151)	ACTCCAAGGACTGAACAGGCT	0.388																																						dbGAP											0			1											70	71	71					1																	94362368		2203	4300	6503	94134956	SO:0001583	missense	0			L35546	CCDS746.1	1p21	2008-02-05			ENSG00000023909	ENSG00000023909	6.3.2.2		4312	protein-coding gene	gene with protein product	"gamma-glutamylcysteine synthetase"	601176		GLCLR		7826375	Standard	NM_002061		Approved		uc001dqg.1	P48507	OTTHUMG00000010562	ENST00000370238.3:c.346G>A	1.37:g.94362368C>T	ENSP00000359258:p.Val116Ile	83	4.49	4					94134956	59	30.59	26	A8K334|D3DT45|M5A959|Q6FHC1|Q9NPX9|Q9NU74	Missense_Mutation	SNP	HMMPfam_Aldo_ket_red,superfamily_NAD(P)-linked oxidoreductase	p.V116I	ENST00000370238.3	37	c.346	CCDS746.1	1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.744841	0.30865	.	.	ENSG00000023909	ENST00000370238	T	0.41758	0.99	5.5	5.5	0.81552	NADP-dependent oxidoreductase domain (3);	0.348745	0.34025	N	0.004338	T	0.08758	0.0217	N	0.02247	-0.625	0.27728	N	0.944913	B	0.20887	0.049	B	0.22152	0.038	T	0.08351	-1.0726	10	0.56958	D	0.05	.	9.5499	0.39304	0.1426:0.7853:0.0:0.0721	.	116	P48507	GSH0_HUMAN	I	116	ENSP00000359258:V116I	ENSP00000359258:V116I	V	-	1	0	GCLM	94134956	0.913000	0.31002	0.999000	0.59377	0.875000	0.50365	1.752000	0.38349	2.748000	0.94277	0.655000	0.94253	GTC	-	superfamily_NAD(P)-linked oxidoreductase		0.388	GCLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLM	protein_coding	OTTHUMT00000029169.1	C	NM_002061		94134956	-1	no_errors	NM_002061.2	genbank	human	reviewed	54_36p	missense	SNP	0.981	T	T	94362368	C	T	94362368	3	4	118	1	0	0	0	0	1	0	0	0	6296	565	20	2	490	2	GCLM	1	94362368	Missense_Mutation	SNP	C	TCGA-AB-2926-03A-01W-0732-08	53400848	94362368	154888253	3	1337											
ITGAV	3685	genome.wustl.edu	37	2	187487079	187487079	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr2:187487079T>A	ENST00000261023.3	+	3	604	c.330T>A	c.(328-330)taT>taA	p.Y110*	ITGAV_ENST00000433736.2_Nonsense_Mutation_p.Y64*|ITGAV_ENST00000374907.3_Nonsense_Mutation_p.Y110*	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	110					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ATAGAGATTATGCCAAGGATG	0.343																																					Melanoma(58;108 1995 6081)	dbGAP											0			2											112	112	112					2																	187487079		2203	4300	6503	187195324	SO:0001587	stop_gained	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"CD molecules", "Integrins"	6150	protein-coding gene	gene with protein product		193210	"antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.330T>A	2.37:g.187487079T>A	ENSP00000261023:p.Tyr110*	202	9.01	20					187195324	130	36.84	77	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Nonsense_Mutation	SNP	HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_SM00191,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_Integrin domains,superfamily_Integrin alpha N-terminal domain	p.Y110*	ENST00000261023.3	37	c.330	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	T	39	7.608623	0.98387	.	.	ENSG00000138448	ENST00000544640;ENST00000261023;ENST00000374907;ENST00000433736	.	.	.	5.41	5.41	0.78517	.	0.663319	0.16379	N	0.216984	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4374	0.67290	0.0:0.0:0.0:1.0	.	.	.	.	X	110;110;110;64	.	ENSP00000261023:Y110X	Y	+	3	2	ITGAV	187195324	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.086000	0.41643	2.061000	0.61500	0.533000	0.62120	TAT	-	superfamily_Integrin alpha N-terminal domain		0.343	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	protein_coding	OTTHUMT00000255882.2	T	NM_002210		187195324	1	no_errors	NM_002210.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	187487079	T	A	187487079	4	1	118	1	0	0	0	0	0	1	0	0	7888	1471	51	5	391	5	ITGAV	2	187487079	Nonsense_Mutation	SNP	T	TCGA-AB-2926-03A-01W-0732-08		187487079	55712294	4	1338											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	81	5.81	5					208821358	50	51.89	55	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	118	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2926-03A-01W-0732-08	21626034	209113113	34086260	5	1339											
CXCL10	3627	genome.wustl.edu	37	4	76943894	76943894	+	Silent	SNP	T	T	C			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr4:76943894T>C	ENST00000306602.1	-	2	203	c.138A>G	c.(136-138)gaA>gaG	p.E46E	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	46					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAAGTTTTTCTAAAGACC	0.393																																						dbGAP											0			4											115	106	109					4																	76943894		1860	4101	5961	77162918	SO:0001819	synonymous_variant	0			X02530	CCDS43240.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000169245		"Endogenous ligands"	10637	protein-coding gene	gene with protein product		147310	"small inducible cytokine subfamily B (Cys-X-Cys), member 10"	INP10, SCYB10		2437586, 3925348	Standard	NM_001565		Approved	IFI10, IP-10, crg-2, mob-1, C7, gIP-10	uc003hjl.4	P02778		ENST00000306602.1:c.138A>G	4.37:g.76943894T>C		213	10.29	25					77162918	106	44.21	84	Q96QJ5	Silent	SNP	HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC	p.E46	ENST00000306602.1	37	c.138	CCDS43240.1	4																																																																																			-	HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8,PatternScan_SMALL_CYTOKINES_CXC		0.393	CXCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL10	protein_coding	OTTHUMT00000362817.1	T			77162918	-1	no_errors	NM_001565.2	genbank	human	reviewed	54_36p	silent	SNP	0.669	C	C	76943894	T	C	76943894	2	2	118	1	0	0	0	0	0	0	0	1	4078	1838	64	3		3	CXCL10	4	76943894	Silent	SNP	T	TCGA-AB-2926-03A-01W-0732-08		76943894	114210382	6	1340											
STC2	8614	genome.wustl.edu	37	5	172744925	172744926	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr5:172744925_172744926insC	ENST00000265087.4	-	4	2142_2143	c.833_834insG	c.(832-834)ggcfs	p.G278fs	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	278					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAGCCCCAAGGCCCCCGACTCT	0.609																																						dbGAP											0			5																																								172677532	SO:0001589	frameshift_variant	0			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.834dupG	5.37:g.172744930_172744930dupC	ENSP00000265087:p.Gly278fs	32	0	0					172677531	39	7.14	3		Frame_Shift_Ins	INS	HMMPfam_Stanniocalcin	p.L279fs	ENST00000265087.4	37	c.834_833	CCDS4388.1	5																																																																																			-	NULL		0.609	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	protein_coding	OTTHUMT00000252965.1	-	NM_003714		172677532	-1	no_errors	NM_003714.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.011:0.001	C	C	172744926	-	C	172744925	7	5	118	1	0	1	1	0	0	0	0	0	15275	1190	42	0	78	0	STC2	5	172744925	Frame_Shift_Ins	INS	-	TCGA-AB-2926-03A-01W-0732-08		172744925	8170335	7	1341											
KIF27	55582	genome.wustl.edu	37	9	86518166	86518166	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr9:86518166C>T	ENST00000297814.2	-	4	1410	c.1267G>A	c.(1267-1269)Gtt>Att	p.V423I	KIF27_ENST00000334204.2_Missense_Mutation_p.V423I|KIF27_ENST00000413982.1_Missense_Mutation_p.V423I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	423					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTTAGGTCAACCAGGAAGGTA	0.443																																						dbGAP											0			9											180	162	168					9																	86518166		2203	4300	6503	85707986	SO:0001583	missense	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"Kinesins"	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.1267G>A	9.37:g.86518166C>T	ENSP00000297814:p.Val423Ile	176	8.72	17					85707986	106	38.73	67	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	HMMPfam_Kinesin,HMMSmart_SM00129,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V423I	ENST00000297814.2	37	c.1267	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	10.92	1.488492	0.26686	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.69806	-0.43;-0.4;-0.3	5.37	2.34	0.29019	.	0.557352	0.15769	N	0.245525	T	0.56761	0.2007	L	0.51422	1.61	0.27039	N	0.964056	B;B;B	0.27068	0.167;0.102;0.104	B;B;B	0.27380	0.053;0.079;0.024	T	0.51204	-0.8735	10	0.45353	T	0.12	.	7.1351	0.25523	0.0:0.6004:0.2541:0.1455	.	423;423;423	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	I	423	ENSP00000297814:V423I;ENSP00000401688:V423I;ENSP00000333928:V423I	ENSP00000297814:V423I	V	-	1	0	KIF27	85707986	0.001000	0.12720	0.997000	0.53966	0.806000	0.45545	0.320000	0.19540	0.642000	0.30620	0.655000	0.94253	GTT	-	NULL		0.443	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	protein_coding	OTTHUMT00000052861.1	C	NM_017576		85707986	-1	no_errors	NM_017576.1	genbank	human	provisional	54_36p	missense	SNP	0.878	T	T	86518166	C	T	86518166	3	4	118	1	0	0	0	0	1	0	0	0	8296	507	18	2	2998	2	KIF27	9	86518166	Missense_Mutation	SNP	C	TCGA-AB-2926-03A-01W-0732-08		86518166	54695265	8	1342											
SBF2	81846	genome.wustl.edu	37	11	10014071	10014071	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr11:10014071C>T	ENST00000256190.8	-	12	1324	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	SBF2_ENST00000527019.1_5'Flank	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	396	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GACCAAACCACGCTGCCCCAA	0.368																																						dbGAP											0			11											65	59	61					11																	10014071		2200	4294	6494	9970647	SO:0001583	missense	0			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins", "DENN/MADD domain containing", "Pleckstrin homology (PH) domain containing"	2135	protein-coding gene	gene with protein product	"myotubularin related 13"	607697	"Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)", "DENN/MADD domain containing 7B"	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.1187G>A	11.37:g.10014071C>T	ENSP00000256190:p.Arg396His	89	5.26	5					9970647	61	47.46	56	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	HMMPfam_DENN,HMMSmart_SM00799,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GRAM,HMMSmart_SM00568,HMMPfam_dDENN,HMMSmart_SM00801,HMMPfam_uDENN,HMMSmart_SM00800,HMMPfam_Myotub-related,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II	p.R396H	ENST00000256190.8	37	c.1187	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.396405	0.96009	.	.	ENSG00000133812	ENST00000256190	T	0.50813	0.73	5.58	5.58	0.84498	dDENN (3);	0.279522	0.34959	N	0.003546	T	0.70988	0.3287	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73575	-0.3939	10	0.87932	D	0	.	19.5779	0.95452	0.0:1.0:0.0:0.0	.	396	Q86WG5	MTMRD_HUMAN	H	396	ENSP00000256190:R396H	ENSP00000256190:R396H	R	-	2	0	SBF2	9970647	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.792000	0.85828	2.621000	0.88768	0.563000	0.77884	CGT	-	HMMPfam_dDENN,HMMSmart_SM00801		0.368	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	protein_coding	OTTHUMT00000386911.2	C	NM_030962		9970647	-1	no_errors	NM_030962.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	10014071	C	T	10014071	3	4	118	1	0	0	0	0	1	0	0	0	13859	536	19	1	4478	1	SBF2	11	10014071	Missense_Mutation	SNP	C	TCGA-AB-2926-03A-01W-0732-08		10014071	124992445	9	1343											
WNK1	65125	genome.wustl.edu	37	12	970241	970241	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr12:970241A>C	ENST00000315939.6	+	7	2326	c.1683A>C	c.(1681-1683)agA>agC	p.R561S	WNK1_ENST00000537687.1_Missense_Mutation_p.R561S|WNK1_ENST00000340908.4_Missense_Mutation_p.R154S|WNK1_ENST00000535572.1_Missense_Mutation_p.R561S|WNK1_ENST00000530271.2_Missense_Mutation_p.R561S|WNK1_ENST00000540360.1_3'UTR	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	561					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TCAAAGACAGAGTATCATTAA	0.418																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0			12											147	159	155					12																	970241		2203	4300	6503	840502	SO:0001583	missense	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 167"	605232	"protein kinase, lysine deficient 1", "hereditary sensory neuropathy, type II"	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1683A>C	12.37:g.970241A>C	ENSP00000313059:p.Arg561Ser	120	5.47	7					840502	64	38.32	41	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,HMMPfam_Pkinase	p.R561S	ENST00000315939.6	37	c.1683	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649504	0.67358	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61	5.67	3.38	0.38709	.	0.000000	0.64402	D	0.000001	T	0.35998	0.0951	M	0.85197	2.74	0.36835	D	0.887072	D;D;P	0.55172	0.97;0.97;0.949	D;D;D	0.75020	0.985;0.985;0.967	T	0.39603	-0.9606	10	0.87932	D	0	-14.1525	6.8834	0.24187	0.6718:0.0:0.3282:0.0	.	561;561;561	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	S	561;561;561;8;561;154	ENSP00000441972:R561S;ENSP00000313059:R561S;ENSP00000444465:R561S;ENSP00000433548:R561S;ENSP00000341292:R154S	ENSP00000252477:R8S	R	+	3	2	WNK1	840502	0.877000	0.30153	1.000000	0.80357	0.979000	0.70002	0.058000	0.14301	1.003000	0.39130	0.482000	0.46254	AGA	-	superfamily_Kinase_like		0.418	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	protein_coding	OTTHUMT00000206683.1	A	NM_018979		840502	1	no_errors	NM_018979.2	genbank	human	validated	54_36p	missense	SNP	0.989	C	C	970241	A	C	970241	3	2	118	1	0	0	0	0	1	0	0	0	17374	301	11	5	1709	5	WNK1	12	970241	Missense_Mutation	SNP	A	TCGA-AB-2926-03A-01W-0732-08		970241	132881654	10	1344											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	94	2.06	2					27490642	77	36.36	44	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	118	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2926-03A-01W-0732-08		28592642	86577236	11	1345											
AKAP5	9495	genome.wustl.edu	37	14	64935416	64935416	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr14:64935416G>A	ENST00000394718.4	+	2	682	c.304G>A	c.(304-306)Gag>Aag	p.E102K	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000320636.5_Missense_Mutation_p.E102K	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	102	AKAP.|Essential to the intracellular anchoring function. {ECO:0000250}.				energy reserve metabolic process (GO:0006112)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		AAAGCCATTGGAGGGTGAAAT	0.468																																						dbGAP											0			14											85	97	93					14																	64935416		2202	4300	6502	64005169	SO:0001583	missense	0			M90359	CCDS9764.1	14q23.3	2012-05-16			ENSG00000179841	ENSG00000179841		"A-kinase anchor proteins"	375	protein-coding gene	gene with protein product		604688				1512224, 1618839	Standard	NM_004857		Approved	AKAP75, AKAP79	uc001xhd.4	P24588	OTTHUMG00000029634	ENST00000394718.4:c.304G>A	14.37:g.64935416G>A	ENSP00000378207:p.Glu102Lys	54	8.33	5					64005169	35	38.6	22	A2RRB8	Missense_Mutation	SNP	HMMPfam_WSK,HMMPfam_RII_binding_1	p.E102K	ENST00000394718.4	37	c.304	CCDS9764.1	14	.	.	.	.	.	.	.	.	.	.	G	8.221	0.802511	0.16397	.	.	ENSG00000179841	ENST00000394718;ENST00000320636	T;T	0.44482	0.92;0.92	5.72	3.92	0.45320	Protein kinase A anchoring, WSK motif (1);	0.399172	0.23791	N	0.044524	T	0.24547	0.0595	N	0.11560	0.145	0.21445	N	0.99968	B	0.24258	0.1	B	0.28916	0.096	T	0.19353	-1.0308	10	0.26408	T	0.33	-1.8908	10.52	0.44914	0.1503:0.0:0.8497:0.0	.	102	P24588	AKAP5_HUMAN	K	102	ENSP00000378207:E102K;ENSP00000315615:E102K	ENSP00000315615:E102K	E	+	1	0	AKAP5	64005169	0.987000	0.35691	0.206000	0.23566	0.007000	0.05969	2.013000	0.40942	0.797000	0.33971	0.655000	0.94253	GAG	-	HMMPfam_WSK		0.468	AKAP5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKAP5	protein_coding	OTTHUMT00000268070.3	G			64005169	1	no_errors	NM_004857.3	genbank	human	reviewed	54_36p	missense	SNP	0.265	A	A	64935416	G	A	64935416	3	1	118	1	0	0	0	0	1	0	0	0	454	1175	41	2	306	2	AKAP5	14	64935416	Missense_Mutation	SNP	G	TCGA-AB-2926-03A-01W-0732-08		64935416	42414124	12	1346											
DDX17	10521	genome.wustl.edu	37	22	38894089	38894089	+	Splice_Site	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chr22:38894089C>T	ENST00000396821.3	-	5	838		c.e5+1		DDX17_ENST00000381633.3_Splice_Site|DDX17_ENST00000432525.1_Splice_Site	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17						ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					AACACACTTACGATTGGGCCA	0.408																																					Ovarian(55;1085 1454 6392 21425)	dbGAP											0			22											85	85	85					22																	38894089		2203	4300	6503	37224035	SO:0001630	splice_region_variant	0			U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"DEAD-boxes"	2740	protein-coding gene	gene with protein product		608469	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.738+1G>A	22.37:g.38894089C>T		133	5.48	8					37224035	90	44.64	75	B1AHM0|Q69YT1|Q6ICD6	Splice_Site	SNP	-	e5+1	ENST00000396821.3	37	c.738+1	CCDS46706.1	22	.	.	.	.	.	.	.	.	.	.	C	23.4	4.414902	0.83449	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0526	0.80774	0.1346:0.8654:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DDX17	37224035	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.764000	0.68826	2.736000	0.93811	0.591000	0.81541	.	-	-		0.408	DDX17-001	KNOWN	basic|CCDS	protein_coding	DDX17	protein_coding	OTTHUMT00000321476.2	C	NM_030881	Intron	37224035	-1	no_errors	NM_001098504.1	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	38894089	C	T	38894089	5	4	118	1	0	0	0	0	0	0	1	0	4344	550	19	1	1492	1	DDX17	22	38894089	Splice_Site	SNP	C	TCGA-AB-2926-03A-01W-0732-08		38894089	12410477	13	1347											
DDX53	168400	genome.wustl.edu	37	X	23018296	23018296	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2926-03A-01W-0732-08	TCGA-AB-2926-11A-01W-0761-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	890ea799-3156-40c3-839c-0c60179006d7	04ea59bd-4188-4b75-ae4b-4f8f3665db56	g.chrX:23018296C>T	ENST00000327968.5	+	1	210	c.122C>T	c.(121-123)cCg>cTg	p.P41L	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	41						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CATCAGGGACCGAGAGCAGCA	0.532																																						dbGAP											0			X											54	51	52					X																	23018296		2203	4300	6503	22928217	SO:0001583	missense	0			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"DEAD-boxes"	20083	protein-coding gene	gene with protein product	"cancer associated gene", "cancer/testis antigen 26"						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.122C>T	X.37:g.23018296C>T	ENSP00000368667:p.Pro41Leu	74	6.33	5					22928217	40	46.67	35	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	PatternScan_DEAD_ATP_HELICASE,HMMPfam_Helicase_C,HMMSmart_HELICc,HMMSmart_KH,HMMPfam_DEAD,HMMSmart_DEXDc,HMMPfam_KH_1,superfamily_SSF52540,superfamily_SSF54791	p.P41L	ENST00000327968.5	37	c.122	CCDS35214.1	X	.	.	.	.	.	.	.	.	.	.	C	4.509	0.094520	0.08632	.	.	ENSG00000184735	ENST00000327968	T	0.21031	2.03	3.02	2.15	0.27550	.	1.224180	0.06020	U	0.651148	T	0.11537	0.0281	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.34675	-0.9819	10	0.10377	T	0.69	.	5.3099	0.15825	0.0:0.8364:0.0:0.1636	.	41	Q86TM3	DDX53_HUMAN	L	41	ENSP00000368667:P41L	ENSP00000368667:P41L	P	+	2	0	DDX53	22928217	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	0.662000	0.25038	0.685000	0.31468	0.600000	0.82982	CCG	-	superfamily_SSF54791		0.532	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX53	protein_coding	OTTHUMT00000056043.1	C	NM_182699		22928217	1	no_errors	NM_182699.2	genbank	human	validated	54_36p	missense	SNP	0.001	T	T	23018296	C	T	23018296	3	4	118	1	0	0	0	0	1	0	0	0	4371	652	23	1	124	1	DDX53	23	23018296	Missense_Mutation	SNP	C	TCGA-AB-2926-03A-01W-0732-08		23018296	132252264	14	1348											
AKR7A2	8574	genome.wustl.edu	37	1	19632540	19632540	+	Missense_Mutation	SNP	C	C	G	rs199970984		TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr1:19632540C>G	ENST00000235835.3	-	6	911	c.890G>C	c.(889-891)cGg>cCg	p.R297P	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	297					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACATCCACCGGAGGGCAGC	0.627																																						dbGAP											0			1											67	66	67					1																	19632540		2203	4300	6503	19505127	SO:0001583	missense	0			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"Aldo-keto reductases"	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.890G>C	1.37:g.19632540C>G	ENSP00000235835:p.Arg297Pro	56	0	0		22	37.14	13	19505127	10	56.52	13	O75749|Q5TG63	Missense_Mutation	SNP	HMMPfam_Aldo_ket_red,superfamily_Aldo/ket_red	p.R297P	ENST00000235835.3	37	c.890	CCDS194.1	1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.272605	0.59649	.	.	ENSG00000053371	ENST00000235835;ENST00000330072;ENST00000489286	T;T	0.28895	1.59;1.59	3.84	2.93	0.34026	NADP-dependent oxidoreductase domain (3);	0.057763	0.64402	D	0.000001	T	0.59211	0.2177	H	0.97291	3.975	0.49798	D	0.999822	P	0.49090	0.919	P	0.53760	0.734	T	0.69206	-0.5206	10	0.66056	D	0.02	.	9.6024	0.39612	0.0:0.8944:0.0:0.1056	.	297	O43488	ARK72_HUMAN	P	297;252;159	ENSP00000235835:R297P;ENSP00000339084:R252P	ENSP00000235835:R297P	R	-	2	0	AKR7A2	19505127	1.000000	0.71417	0.913000	0.36048	0.511000	0.34104	4.456000	0.60081	0.961000	0.38030	-0.254000	0.11334	CGG	-	superfamily_Aldo/ket_red		0.627	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A2	protein_coding	OTTHUMT00000007165.2	C	NM_003689		19505127	-1	no_errors	NM_003689.2	genbank	human	validated	54_36p	missense	SNP	0.998	G	G	19632540	C	G	19632540	3	3	119	1	0	0	0	0	1	0	0	0	475	652	23	4	197	4	AKR7A2	1	19632540	Missense_Mutation	SNP	C	TCGA-AB-2927-03A-01W-0755-09		19632540	229618081	1	1349											
SLFNL1	200172	genome.wustl.edu	37	1	41483672	41483672	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr1:41483672C>T	ENST00000359345.1	-	2	3168	c.592G>A	c.(592-594)Gac>Aac	p.D198N	SLFNL1_ENST00000397197.2_Missense_Mutation_p.D198N|SLFNL1_ENST00000439569.2_Missense_Mutation_p.D198N|SLFNL1_ENST00000372611.1_Intron|SLFNL1_ENST00000372613.2_Missense_Mutation_p.D198N|SLFNL1_ENST00000302946.8_Missense_Mutation_p.D198N	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	198							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ATGGCACTGTCGGAGCACACG	0.662																																						dbGAP											0			1											23	19	20					1																	41483672		2203	4298	6501	41256259	SO:0001583	missense	0			BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.592G>A	1.37:g.41483672C>T	ENSP00000352299:p.Asp198Asn	18	0	0		6	40	4	41256259	28	33.33	14	A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	HMMPfam_AAA_4	p.D198N	ENST00000359345.1	37	c.592	CCDS460.1	1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639835	0.67244	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T	0.36157	1.28;1.27;1.28;1.28;1.27	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000005	T	0.56016	0.1957	L	0.59436	1.845	0.35464	D	0.796778	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.66436	-0.5924	10	0.62326	D	0.03	-61.7876	14.3228	0.66499	0.0:1.0:0.0:0.0	.	198;198	Q499Z3-3;Q499Z3	.;SLNL1_HUMAN	N	198	ENSP00000304401:D198N;ENSP00000361696:D198N;ENSP00000352299:D198N;ENSP00000398938:D198N;ENSP00000380381:D198N	ENSP00000304401:D198N	D	-	1	0	SLFNL1	41256259	0.999000	0.42202	0.933000	0.37362	0.253000	0.25986	5.236000	0.65354	2.436000	0.82500	0.561000	0.74099	GAC	-	NULL		0.662	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLFNL1	protein_coding	OTTHUMT00000015650.1	C	NM_144990		41256259	-1	no_errors	NM_144990.2	genbank	human	provisional	54_36p	missense	SNP	0.971	T	T	41483672	C	T	41483672	3	4	119	1	0	0	0	0	1	0	0	0	14738	884	31	1	643	1	SLFNL1	1	41483672	Missense_Mutation	SNP	C	TCGA-AB-2927-03A-01W-0755-09	21851132	41483672	207766949	2	1350											
PRELP	5549	genome.wustl.edu	37	1	203452870	203452870	+	Silent	SNP	C	C	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr1:203452870C>A	ENST00000343110.2	+	2	685	c.558C>A	c.(556-558)atC>atA	p.I186I		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	186					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TCTCCAGAATCCCGCCTGGTG	0.602																																						dbGAP											0			1											71	78	76					1																	203452870		2203	4300	6503	201719493	SO:0001819	synonymous_variant	0			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"	9357	protein-coding gene	gene with protein product	"prolargin proteoglycan"	601914	"proline arginine-rich end leucine-rich repeat protein"				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.558C>A	1.37:g.203452870C>A		64	1.52	1					201719493	35	38.6	22	Q6FG38	Silent	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like	p.I186	ENST00000343110.2	37	c.558	CCDS1438.1	1																																																																																			-	HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00364,superfamily_L domain-like		0.602	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRELP	protein_coding	OTTHUMT00000087474.1	C	NM_002725		201719493	1	no_errors	NM_002725.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	203452870	C	A	203452870	2	1	119	1	0	0	0	0	0	0	0	1	12473	845	30	4		4	PRELP	1	203452870	Silent	SNP	C	TCGA-AB-2927-03A-01W-0755-09	161969198	203452870	45797751	3	1351											
TTN	7273	genome.wustl.edu	37	2	179484779	179484779	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr2:179484779A>C	ENST00000591111.1	-	199	41666	c.41442T>G	c.(41440-41442)gaT>gaG	p.D13814E	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D15455E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12887E|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D6390E|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6515E|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6582E			Q8WZ42	TITIN_HUMAN	titin	13814	Ig-like 94.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACACTCATCATCCAGCCTGC	0.363																																						dbGAP											0			2											132	122	126					2																	179484779		1855	4122	5977	179193024	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41442T>G	2.37:g.179484779A>C	ENSP00000465570:p.Asp13814Glu	109	2.68	3		3	0	0	179193024	70	32.04	33	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.D11437E	ENST00000591111.1	37	c.34311		2	.	.	.	.	.	.	.	.	.	.	A	11.10	1.540683	0.27563	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	5.73	0.545	0.17190	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58090	0.2098	N	0.17764	0.52	0.30200	N	0.798732	B;B;B;B	0.11235	0.001;0.001;0.002;0.004	B;B;B;B	0.16722	0.01;0.01;0.01;0.016	T	0.55354	-0.8154	9	0.87932	D	0	.	8.2885	0.31943	0.421:0.4506:0.1284:0.0	.	6390;6515;6582;13814	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	12887;6390;6582;6515;6390	ENSP00000343764:D12887E;ENSP00000434586:D6390E;ENSP00000340554:D6582E;ENSP00000352154:D6515E	ENSP00000340554:D6582E	D	-	3	2	TTN	179193024	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.686000	0.37669	0.161000	0.19458	-0.313000	0.08912	GAT	-	HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179193024	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	C	C	179484779	A	C	179484779	3	2	119	1	0	0	0	0	1	0	0	0	16732	214	8	5	61784	5	TTN	2	179484779	Missense_Mutation	SNP	A	TCGA-AB-2927-03A-01W-0755-09		179484779	63714594	4	1352											
MST1R	4486	genome.wustl.edu	37	3	49936337	49936337	+	Missense_Mutation	SNP	C	C	T	rs138183686		TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr3:49936337C>T	ENST00000296474.3	-	3	1538	c.1511G>A	c.(1510-1512)cGt>cAt	p.R504H	MST1R_ENST00000344206.4_Missense_Mutation_p.R504H|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	504	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.		R -> C (in dbSNP:rs34350470). {ECO:0000269|PubMed:17344846}.		cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTCCCCAAGACGACTGACATC	0.597																																						dbGAP											0			3						C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	94	96	95		1511	5.9	1	3	dbSNP_134	95	0,8600		0,0,4300	no	missense	MST1R	NM_002447.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	504/1401	49936337	1,13005	2203	4300	6503	49911341	SO:0001583	missense	0			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"CD molecules"	7381	protein-coding gene	gene with protein product		600168	"PTK8 protein tyrosine kinase 8"	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1511G>A	3.37:g.49936337C>T	ENSP00000296474:p.Arg504His	22	4.35	1		8	27.27	3	49911341	17	34.62	9	B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain,HMMPfam_PSI,HMMSmart_SM00220,HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00423,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),superfamily_E set domains,superfamily_Plexin repeat,PatternScan_PROTEIN_KINASE_ATP	p.R504H	ENST00000296474.3	37	c.1511	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	17.74	3.463583	0.63513	2.27E-4	0.0	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.11277	2.79;2.79	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.222957	0.48767	D	0.000165	T	0.28101	0.0693	M	0.67953	2.075	0.36316	D	0.857976	B;P;D	0.89917	0.348;0.608;1.0	B;B;D	0.77004	0.248;0.248;0.989	T	0.08493	-1.0719	10	0.21014	T	0.42	-26.9727	12.6167	0.56580	0.0:0.9251:0.0:0.0749	.	504;504;504	Q04912-6;Q04912-5;Q04912	.;.;RON_HUMAN	H	504	ENSP00000296474:R504H;ENSP00000341325:R504H	ENSP00000296474:R504H	R	-	2	0	MST1R	49911341	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.667000	0.37471	2.815000	0.96918	0.561000	0.74099	CGT	-	HMMPfam_Sema,HMMSmart_SM00630,superfamily_Sema domain		0.597	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	protein_coding	OTTHUMT00000345403.1	C			49911341	-1	no_errors	NM_002447.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	49936337	C	T	49936337	3	4	119	1	0	0	0	0	1	0	0	0	9891	536	19	1	2763	1	MST1R	3	49936337	Missense_Mutation	SNP	C	TCGA-AB-2927-03A-01W-0755-09		49936337	148086093	5	1353											
HIST1H3D	8351	genome.wustl.edu	37	6	26197396	26197396	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr6:26197396T>A	ENST00000356476.2	-	1	82	c.83A>T	c.(82-84)aAg>aTg	p.K28M	HIST1H2BF_ENST00000359985.1_5'Flank|HIST1H3D_ENST00000377831.5_Missense_Mutation_p.K28M			P68431	H31_HUMAN	histone cluster 1, H3d	28					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				TGGAGCGCTCTTTCGAGCAGC	0.647																																					GBM(108;3816 4467)	dbGAP											0			6											45	51	49					6																	26197396		2203	4300	6503	26305375	SO:0001583	missense	0			Z80784	CCDS4590.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197409	ENSG00000197409		"Histones / Replication-dependent"	4767	protein-coding gene	gene with protein product		602811	"H3 histone family, member B", "histone 1, H3d"	H3FB		9119399, 12408966	Standard	NM_003530		Approved	H3/b	uc003ngv.4	P68431	OTTHUMG00000014433	ENST00000356476.2:c.83A>T	6.37:g.26197396T>A	ENSP00000366999:p.Lys28Met	18	0	0		61	38	38	26305375	21	34.38	11	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Nonsense_Mutation	SNP	HMMSmart_SM00414,PatternScan_HISTONE_H2A,HMMPfam_Histone,superfamily_Histone-fold	p.R162*	ENST00000356476.2	37	c.484	CCDS4590.1	6	.	.	.	.	.	.	.	.	.	.	.	9.859	1.195697	0.22037	.	.	ENSG00000197409	ENST00000356476;ENST00000377831	T;T	0.49720	0.77;0.77	4.16	4.16	0.48862	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.39261	D	0.964216	.	.	.	.	.	.	T	0.59252	-0.7489	6	0.87932	D	0	.	12.6724	0.56874	0.0:0.0:0.0:1.0	.	.	.	.	M	28	ENSP00000366999:K28M;ENSP00000367062:K28M	ENSP00000366999:K28M	K	-	2	0	HIST1H3D	26305375	1.000000	0.71417	1.000000	0.80357	0.130000	0.20726	7.359000	0.79477	1.639000	0.50556	0.460000	0.39030	AAG	-	NULL		0.647	HIST1H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3D	protein_coding	OTTHUMT00000040096.1	T	NM_003530		26305375	-1	no_errors	ENST00000377831	ensembl	human	known	54_36p	nonsense	SNP	1.000	A	A	26197396	T	A	26197396	3	1	119	1	0	0	0	0	1	0	0	0	7158	1609	56	5	331	5	HIST1H3D	6	26197396	Missense_Mutation	SNP	T	TCGA-AB-2927-03A-01W-0755-09		26197396	144917671	6	1354											
KCNU1	157855	genome.wustl.edu	37	8	36780102	36780102	+	Silent	SNP	G	G	A	rs368116235		TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr8:36780102G>A	ENST00000399881.3	+	24	2728	c.2691G>A	c.(2689-2691)acG>acA	p.T897T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	897	Segment S10.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTTTCTACGGGCACTGTTT	0.488													G|||	1	0.000199681	0	0	5008	,	,		16661	0		0.001	False		,,,				2504	0					dbGAP											0			8						G		0,3750		0,0,1875	119	114	116		2691	-10.8	0	8		116	1,8225		0,1,4112	no	coding-synonymous	KCNU1	NM_001031836.2		0,1,5987	AA,AG,GG		0.0122,0.0,0.0084		897/1150	36780102	1,11975	1875	4113	5988	36899260	SO:0001819	synonymous_variant	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2691G>A	8.37:g.36780102G>A		80	1.23	1					36899260	71	44.96	58		Silent	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans,superfamily_NAD(P)-bd,superfamily_SSF81324	p.T897	ENST00000399881.3	37	c.2691	CCDS55220.1	8																																																																																			-	NULL		0.488	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	G	NM_001031836		36899260	1	no_errors	NM_001031836.2	genbank	human	validated	54_36p	silent	SNP	0.932	A	A	36780102	G	A	36780102	2	1	119	1	0	0	0	0	0	0	0	1	8093	1103	39	1		1	KCNU1	8	36780102	Silent	SNP	G	TCGA-AB-2927-03A-01W-0755-09		36780102	109583920	7	1355											
DBC1	1620	genome.wustl.edu	37	9	121971020	121971020	+	Silent	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr9:121971020G>A	ENST00000265922.3	-	7	1583	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	374					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GCTGGTGGTTGGGATTGTGGC	0.557																																						dbGAP											0			9											193	167	176					9																	121971020		2203	4300	6503	121010841	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"deleted in bladder cancer chromosome region candidate 1", "deleted in bladder cancer 1"	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1122C>T	9.37:g.121971020G>A		95	1.04	1					121010841	131	35.47	72	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	HMMSmart_SM00457	p.P374	ENST00000265922.3	37	c.1122	CCDS6822.1	9																																																																																			-	NULL		0.557	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	protein_coding	OTTHUMT00000055440.2	G	NM_014618		121010841	-1	no_errors	NM_014618.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	121971020	G	A	121971020	2	1	119	1	0	0	0	0	0	0	0	1	4247	1335	47	2		2	DBC1	9	121971020	Silent	SNP	G	TCGA-AB-2927-03A-01W-0755-09		121971020	19242411	8	1356											
TACC2	10579	genome.wustl.edu	37	10	123970284	123970284	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr10:123970284C>T	ENST00000369005.1	+	9	6684	c.6344C>T	c.(6343-6345)aCg>aTg	p.T2115M	TACC2_ENST00000515273.1_Missense_Mutation_p.T2119M|TACC2_ENST00000513429.1_Missense_Mutation_p.T261M|TACC2_ENST00000369004.3_Missense_Mutation_p.T193M|TACC2_ENST00000515603.1_Missense_Mutation_p.T2070M|TACC2_ENST00000358010.1_Missense_Mutation_p.T261M|TACC2_ENST00000334433.3_Missense_Mutation_p.T2115M|TACC2_ENST00000368999.1_Missense_Mutation_p.T193M|TACC2_ENST00000453444.2_Missense_Mutation_p.T2119M|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.T193M|TACC2_ENST00000360561.3_Missense_Mutation_p.T193M|TACC2_ENST00000369001.1_5'UTR	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2115					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCATATAGCACGGGTTCCAGC	0.547																																						dbGAP											0			10											83	87	86					10																	123970284		2203	4300	6503	123960274	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6344C>T	10.37:g.123970284C>T	ENSP00000358001:p.Thr2115Met	100	1.94	2					123960274	50	32.43	24	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	HMMPfam_TACC	p.T2115M	ENST00000369005.1	37	c.6344	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	C	17.34	3.365155	0.61513	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.09445	3.87;3.49;3.96;3.95;3.87;3.49;3.96;3.36;3.39;3.39;3.36;2.98	5.64	4.74	0.60224	.	0.204788	0.24720	N	0.036154	T	0.27866	0.0686	L	0.57536	1.79	0.28391	N	0.919074	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0;0.998;0.997;1.0;1.0	D;D;P;D;D;P;P;D;D	0.72338	0.975;0.964;0.81;0.977;0.964;0.853;0.907;0.96;0.977	T	0.04203	-1.0969	10	0.54805	T	0.06	-4.1943	12.8907	0.58069	0.0:0.9249:0.0:0.0751	.	210;2119;193;2070;2119;193;193;261;2115	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	M	2115;261;2119;2070;2115;261;2119;2105;193;193;193;193;210	ENSP00000358001:T2115M;ENSP00000425062:T261M;ENSP00000424467:T2119M;ENSP00000427618:T2070M;ENSP00000334280:T2115M;ENSP00000350701:T261M;ENSP00000395048:T2119M;ENSP00000353763:T193M;ENSP00000357995:T193M;ENSP00000422815:T193M;ENSP00000260733:T193M;ENSP00000420967:T210M	ENSP00000260733:T193M	T	+	2	0	TACC2	123960274	0.277000	0.24220	0.755000	0.31263	0.803000	0.45373	2.624000	0.46444	1.390000	0.46547	0.655000	0.94253	ACG	-	NULL		0.547	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	C			123960274	1	no_errors	NM_206862.2	genbank	human	reviewed	54_36p	missense	SNP	0.962	T	T	123970284	C	T	123970284	3	4	119	1	0	0	0	0	1	0	0	0	15499	536	19	1	6446	1	TACC2	10	123970284	Missense_Mutation	SNP	C	TCGA-AB-2927-03A-01W-0755-09		123970284	11564463	9	1357											
OR4C6	219432	genome.wustl.edu	37	11	55433284	55433284	+	Silent	SNP	G	G	A	rs201210743	byFrequency	TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr11:55433284G>A	ENST00000314259.3	+	1	671	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTTAATTGCGTCCTACACGG	0.517													g|||	2	0.000399361	0	0	5008	,	,		18516	0.001		0.001	False		,,,				2504	0					dbGAP											0			11						G		0,4400		0,0,2200	139	123	129		642	-1.8	0	11		129	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR4C6	NM_001004704.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		214/310	55433284	1,12991	2200	4296	6496	55189860	SO:0001819	synonymous_variant	0			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"GPCR / Class A : Olfactory receptors"	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.642G>A	11.37:g.55433284G>A		113	3.39	4		2	0	0	55189860	121	39.5	79	B2RP11|Q6IFD2	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.A214	ENST00000314259.3	37	c.642	CCDS31506.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.517	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	protein_coding	OTTHUMT00000391504.1	G	NM_001004704		55189860	1	no_errors	NM_001004704.1	genbank	human	provisional	54_36p	silent	SNP	0.001	A	A	55433284	G	A	55433284	2	1	119	1	0	0	0	0	0	0	0	1	11052	1132	40	1		1	OR4C6	11	55433284	Silent	SNP	G	TCGA-AB-2927-03A-01W-0755-09		55433284	79573232	10	1358											
DAGLA	747	genome.wustl.edu	37	11	61503096	61503096	+	Silent	SNP	C	C	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr11:61503096C>A	ENST00000257215.5	+	11	1308	c.1192C>A	c.(1192-1194)Cgg>Agg	p.R398R		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	398					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GATCAGTATCCGGGGGACCCT	0.642																																						dbGAP											0			11											70	76	74					11																	61503096		2202	4299	6501	61259672	SO:0001819	synonymous_variant	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"neural stem cell-derived dendrite regulator"	614015	"chromosome 11 open reading frame 11"	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1192C>A	11.37:g.61503096C>A		24	0	0		1	75	3	61259672	18	17.39	4	A7E233|Q6WQJ0	Silent	SNP	HMMPfam_Lipase_3,PatternScan_LIPASE_SER,superfamily_SSF53474	p.R398	ENST00000257215.5	37	c.1192	CCDS31578.1	11																																																																																			-	HMMPfam_Lipase_3,superfamily_SSF53474		0.642	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	protein_coding	OTTHUMT00000398516.1	C	NM_006133		61259672	1	no_errors	NM_006133.1	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	61503096	C	A	61503096	2	1	119	1	0	0	0	0	0	0	0	1	4226	643	23	4		4	DAGLA	11	61503096	Silent	SNP	C	TCGA-AB-2927-03A-01W-0755-09	6069812	61503096	73503420	11	1359											
SH2B3	10019	genome.wustl.edu	37	12	111885536	111885536	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr12:111885536T>A	ENST00000341259.2	+	7	1670	c.1313T>A	c.(1312-1314)cTc>cAc	p.L438H	SH2B3_ENST00000538307.1_Missense_Mutation_p.L236H	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	438	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	GTGGACATGCTCCACCACTTC	0.662																																						dbGAP											0			12											62	53	56					12																	111885536		2203	4300	6503	110369919	SO:0001583	missense	0			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"Pleckstrin homology (PH) domain containing", "SH2 domain containing"	29605	protein-coding gene	gene with protein product	"lymphocyte adaptor protein"	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1313T>A	12.37:g.111885536T>A	ENSP00000345492:p.Leu438His	37	0	0		57	43.56	44	110369919	17	52.78	19	B9EGG5|O95184	Missense_Mutation	SNP	HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Phe_ZIP,superfamily_Phenylalanine zipper,superfamily_PH domain-like,superfamily_SH2 domain	p.L438H	ENST00000341259.2	37	c.1313	CCDS9153.1	12	.	.	.	.	.	.	.	.	.	.	T	23.5	4.421567	0.83559	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.66280	-0.2;-0.2	5.05	5.05	0.67936	SH2 motif (5);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.85860	0.1409	10	0.87932	D	0	-9.2935	10.989	0.47539	0.1479:0.0:0.0:0.8521	.	236;302;438	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	H	438;248;236	ENSP00000345492:L438H;ENSP00000440597:L236H	ENSP00000345492:L438H	L	+	2	0	SH2B3	110369919	1.000000	0.71417	0.938000	0.37757	0.974000	0.67602	7.633000	0.83260	2.040000	0.60383	0.379000	0.24179	CTC	-	HMMPfam_SH2,HMMSmart_SM00252,superfamily_SH2 domain		0.662	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2B3	protein_coding	OTTHUMT00000404779.1	T	NM_005475		110369919	1	no_errors	NM_005475.2	genbank	human	validated	54_36p	missense	SNP	0.965	A	A	111885536	T	A	111885536	3	1	119	1	0	0	0	0	1	0	0	0	14229	1551	54	5	1335	5	SH2B3	12	111885536	Missense_Mutation	SNP	T	TCGA-AB-2927-03A-01W-0755-09		111885536	21966359	12	1360											
DIS3	22894	genome.wustl.edu	37	13	73337717	73337717	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr13:73337717T>C	ENST00000377767.4	-	16	2099	c.1999A>G	c.(1999-2001)Atg>Gtg	p.M667V	DIS3_ENST00000545453.1_Missense_Mutation_p.M505V|DIS3_ENST00000377780.4_Missense_Mutation_p.M637V	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	667					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		GCAAGTAACATAAATTCTTCA	0.328										Multiple Myeloma(4;0.011)																												dbGAP											0			13											42	44	43					13																	73337717		2203	4300	6503	72235718	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1999A>G	13.37:g.73337717T>C	ENSP00000366997:p.Met667Val	54	0	0		15	28.57	6	72235718	85	37.04	50	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like	p.M667V	ENST00000377767.4	37	c.1999	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	T	24.1	4.495576	0.85069	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.51817	0.69;0.69;0.69	5.74	5.74	0.90152	Ribonuclease II/R (2);	0.071365	0.85682	D	0.000000	D	0.83801	0.5333	H	0.99777	4.77	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	D	0.91559	0.5263	10	0.87932	D	0	.	16.0499	0.80749	0.0:0.0:0.0:1.0	.	637;667	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	V	667;637;505	ENSP00000366997:M667V;ENSP00000367011:M637V;ENSP00000440058:M505V	ENSP00000366997:M667V	M	-	1	0	DIS3	72235718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.015000	0.88690	2.193000	0.70182	0.533000	0.62120	ATG	-	HMMPfam_RNB		0.328	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	protein_coding	OTTHUMT00000045250.2	T	NM_014953		72235718	-1	no_errors	NM_014953.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	73337717	T	C	73337717	3	2	119	1	0	0	0	0	1	0	0	0	4535	1406	49	3	901	3	DIS3	13	73337717	Missense_Mutation	SNP	T	TCGA-AB-2927-03A-01W-0755-09		73337717	41832161	13	1361											
PRKD1	5587	genome.wustl.edu	37	14	30093424	30093424	+	Silent	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr14:30093424G>A	ENST00000331968.5	-	13	2068	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	PRKD1_ENST00000415220.2_Silent_p.I621I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	613	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		ATTTGTCAATGATTTTAATAG	0.323																																						dbGAP											0			14											154	143	147					14																	30093424		2201	4299	6500	29163175	SO:0001819	synonymous_variant	0				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"Pleckstrin homology (PH) domain containing"	9407	protein-coding gene	gene with protein product		605435	"protein kinase C, mu"	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.1839C>T	14.37:g.30093424G>A		104	1.87	2		1	0	0	29163175	135	42.55	100	A6NL64|B2RAF6	Silent	SNP	HMMPfam_PH,HMMSmart_PH,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF50729,superfamily_SSF57889	p.I613	ENST00000331968.5	37	c.1839	CCDS9637.1	14																																																																																			-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.323	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	protein_coding	OTTHUMT00000276611.2	G	NM_002742		29163175	-1	no_errors	NM_002742.2	genbank	human	validated	54_36p	silent	SNP	0.995	A	A	30093424	G	A	30093424	2	1	119	1	0	0	0	0	0	0	0	1	12518	1280	45	2		2	PRKD1	14	30093424	Silent	SNP	G	TCGA-AB-2927-03A-01W-0755-09		30093424	77256116	14	1362											
SLC24A4	123041	genome.wustl.edu	37	14	92908517	92908517	+	Splice_Site	SNP	G	G	C			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr14:92908517G>C	ENST00000532405.1	+	5	704	c.478G>C	c.(478-480)Ggg>Cgg	p.G160R	SLC24A4_ENST00000351924.5_Splice_Site_p.G143R|SLC24A4_ENST00000393265.2_Splice_Site_p.G96R|SLC24A4_ENST00000298877.1_Splice_Site_p.G143R|SLC24A4_ENST00000531433.1_Splice_Site_p.G160R			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	160					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		GTCTGTTATTGGTAAGAAATC	0.527																																					NSCLC(10;315 435 10383 28450 38798)	dbGAP											0			14											71	65	67					14																	92908517		2203	4300	6503	91978270	SO:0001630	splice_region_variant	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"Solute carriers"	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.478+1G>C	14.37:g.92908517G>C		47	6	3					91978270	79	25.47	27	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	HMMPfam_Na_Ca_ex	p.G143R	ENST00000532405.1	37	c.427	CCDS9903.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.947702|3.947702	0.73787|0.73787	.|.	.|.	ENSG00000140090|ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079;ENST00000554461|ENST00000525557	T;T;T;T;T;T|.	0.63255|.	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03|.	5.33|5.33	5.33|5.33	0.75918|0.75918	Sodium/calcium exchanger membrane region (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87920|0.87920	0.6299|0.6299	H|H	0.95504|0.95504	3.68|3.68	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.97110|.	1.0;1.0;0.998|.	D|D	0.91188|0.91188	0.4981|0.4981	10|5	0.87932|.	D|.	0|.	.|.	19.4129|19.4129	0.94683|0.94683	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	160;96;160|.	Q8NFF2-3;Q8NFF2-2;Q8NFF2|.	.;.;NCKX4_HUMAN|.	R|S	96;160;160;143;143;51;51|44	ENSP00000376948:G96R;ENSP00000433302:G160R;ENSP00000431840:G160R;ENSP00000298877:G143R;ENSP00000337789:G143R;ENSP00000452099:G51R|.	ENSP00000298877:G143R|.	G|W	+|+	1|2	0|0	SLC24A4|SLC24A4	91978270|91978270	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.155000|0.155000	0.21991|0.21991	9.524000|9.524000	0.98036|0.98036	2.652000|2.652000	0.90054|0.90054	0.655000|0.655000	0.94253|0.94253	GGG|TGG	-	HMMPfam_Na_Ca_ex		0.527	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	protein_coding	OTTHUMT00000395240.1	G	NM_153646	Missense_Mutation	91978270	1	no_errors	NM_153646.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	92908517	G	C	92908517	5	2	119	1	0	0	0	0	0	0	1	0	14468	1362	47	4	445	4	SLC24A4	14	92908517	Splice_Site	SNP	G	TCGA-AB-2927-03A-01W-0755-09	62815093	92908517	14441023	15	1363											
RAGE	5891	genome.wustl.edu	37	14	102700054	102700054	+	Silent	SNP	G	G	A	rs139034681	byFrequency	TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr14:102700054G>A	ENST00000361847.2	-	8	894	c.663C>T	c.(661-663)ccC>ccT	p.P221P	MOK_ENST00000520266.1_5'UTR|MOK_ENST00000524370.1_5'UTR|MOK_ENST00000522874.1_Silent_p.P220P|MOK_ENST00000519058.1_5'UTR|MOK_ENST00000522867.1_5'UTR|MOK_ENST00000522534.1_5'UTR|MOK_ENST00000517966.1_5'UTR|MOK_ENST00000193029.6_5'UTR|MOK_ENST00000523231.1_5'UTR|MOK_ENST00000561150.1_5'UTR|MOK_ENST00000524214.1_Silent_p.P191P	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P221P(1)									TCTTCTGAGCGGGTGTGCCGA	0.537													A|||	2	0.000399361	8e-04	0	5008	,	,		20186	0		0.001	False		,,,				2504	0					dbGAP											1	Substitution - coding silent(1)	lung(1)	14						A		1,4405		0,1,2202	215	169	185		663	-1.3	0	14	dbSNP_134	185	0,8600		0,0,4300	no	coding-synonymous	MOK	NM_014226.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		221/420	102700054	1,13005	2203	4300	6503	101769807	SO:0001819	synonymous_variant	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"renal tumor antigen"	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.663C>T	14.37:g.102700054G>A		126	0.78	1		2	0	0	101769807	205	31.44	94	B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.P221	ENST00000361847.2	37	c.663	CCDS9971.1	14																																																																																			-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.537	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAGE	protein_coding	OTTHUMT00000380848.3	G			101769807	-1	no_errors	NM_014226.1	genbank	human	provisional	54_36p	silent	SNP	0.089	A	A	102700054	G	A	102700054	2	1	119	1	0	0	0	0	0	0	0	1	13006	1103	39	1		1	RAGE	14	102700054	Silent	SNP	G	TCGA-AB-2927-03A-01W-0755-09	9791537	102700054	4649486	16	1364											
ST8SIA2	8128	genome.wustl.edu	37	15	92977522	92977522	+	Silent	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr15:92977522C>T	ENST00000268164.3	+	3	444	c.207C>T	c.(205-207)gaC>gaT	p.D69D	ST8SIA2_ENST00000539113.1_Silent_p.D48D	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	69					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CTGTTGTTGACAGAAGTAATG	0.453																																						dbGAP											0			15											163	140	148					15																	92977522		2198	4298	6496	90778526	SO:0001819	synonymous_variant	0			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"Sialyltransferases"	10870	protein-coding gene	gene with protein product		602546	"sialyltransferase 8 (alpha-2, 8-sialytransferase) B"	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.207C>T	15.37:g.92977522C>T		66	1.47	1					90778526	79	34.17	41	Q4VAZ0|Q92470|Q92746	Silent	SNP	HMMPfam_Glyco_transf_29	p.D69	ENST00000268164.3	37	c.207	CCDS10372.1	15																																																																																			-	NULL		0.453	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	protein_coding	OTTHUMT00000313526.1	C	NM_006011		90778526	1	no_errors	NM_006011.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	92977522	C	T	92977522	2	4	119	1	0	0	0	0	0	0	0	1	15231	477	17	2		2	ST8SIA2	15	92977522	Silent	SNP	C	TCGA-AB-2927-03A-01W-0755-09		92977522	9553870	17	1365											
CHST6	4166	genome.wustl.edu	37	16	75513159	75513159	+	Missense_Mutation	SNP	C	C	G	rs529839563	byFrequency	TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr16:75513159C>G	ENST00000332272.4	-	3	747	c.568G>C	c.(568-570)Gac>Cac	p.D190H	CHST6_ENST00000390664.2_Missense_Mutation_p.D190H|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	190					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCGCGGGGTCGCTGAGCAGC	0.692																																						dbGAP											0			16											44	46	45					16																	75513159		2196	4299	6495	74070660	SO:0001583	missense	0			AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"Sulfotransferases, membrane-bound"	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.568G>C	16.37:g.75513159C>G	ENSP00000328983:p.Asp190His	16	0	0					74070660	9	30.77	4	D3DUK3	Missense_Mutation	SNP	HMMPfam_Sulfotransfer_1,superfamily_SSF52540	p.D190H	ENST00000332272.4	37	c.568	CCDS10918.1	16	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708570	0.68615	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.97598	-4.45;-4.45	4.68	4.68	0.58851	Sulfotransferase domain (1);	0.051262	0.85682	D	0.000000	D	0.98720	0.9570	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	15.0725	0.72049	0.0:1.0:0.0:0.0	.	190	Q9GZX3	CHST6_HUMAN	H	190	ENSP00000328983:D190H;ENSP00000375079:D190H	ENSP00000328983:D190H	D	-	1	0	CHST6	74070660	1.000000	0.71417	0.835000	0.33067	0.595000	0.36748	7.758000	0.85224	2.132000	0.65825	0.591000	0.81541	GAC	-	HMMPfam_Sulfotransfer_1,superfamily_SSF52540		0.692	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST6	protein_coding	OTTHUMT00000435478.1	C	NM_021615		74070660	-1	no_errors	NM_021615.4	genbank	human	provisional	54_36p	missense	SNP	0.996	G	G	75513159	C	G	75513159	3	3	119	1	0	0	0	0	1	0	0	0	3408	884	31	4	623	4	CHST6	16	75513159	Missense_Mutation	SNP	C	TCGA-AB-2927-03A-01W-0755-09		75513159	14841594	18	1366											
CRISPLD2	83716	genome.wustl.edu	37	16	84906115	84906115	+	Splice_Site	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr16:84906115G>A	ENST00000262424.5	+	9	1205		c.e9+1		CRISPLD2_ENST00000564567.1_Splice_Site|CRISPLD2_ENST00000567845.1_Splice_Site	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2						extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|lung development (GO:0030324)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|transport vesicle (GO:0030133)	heparin binding (GO:0008201)			endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTATGAAAGCGTGAGTGTGGC	0.463																																						dbGAP											0			16											152	125	134					16																	84906115		2199	4300	6499	83463616	SO:0001630	splice_region_variant	0			AL136861	CCDS10949.1	16q24.1	2008-02-05	2005-02-16	2005-02-16	ENSG00000103196	ENSG00000103196			25248	protein-coding gene	gene with protein product		612434	"LCCL domain containing cysteine-rich secretory protein 2"	LCRISP2		11230166	Standard	NM_031476		Approved	DKFZP434B044	uc010voh.1	Q9H0B8	OTTHUMG00000137644	ENST00000262424.5:c.981+1G>A	16.37:g.84906115G>A		93	0	0		2	0	0	83463616	99	36.13	56	D3DUM0|Q6P590|Q6UWH0|Q6UXC6|Q96IB1|Q96K61	Splice_Site	SNP	-	e8+1	ENST00000262424.5	37	c.981+1	CCDS10949.1	16	.	.	.	.	.	.	.	.	.	.	G	10.12	1.264306	0.23136	.	.	ENSG00000103196	ENST00000262424	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2014	0.65707	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRISPLD2	83463616	1.000000	0.71417	0.616000	0.29078	0.019000	0.09904	5.484000	0.66844	2.481000	0.83766	0.561000	0.74099	.	-	-		0.463	CRISPLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD2	protein_coding	OTTHUMT00000269086.2	G	NM_031476	Intron	83463616	1	no_errors	NM_031476.3	genbank	human	validated	54_36p	splice_site	SNP	0.998	A	A	84906115	G	A	84906115	5	1	119	1	0	0	0	0	0	0	1	0	3883	1159	40	1	1012	1	CRISPLD2	16	84906115	Splice_Site	SNP	G	TCGA-AB-2927-03A-01W-0755-09	9392956	84906115	5448638	19	1367											
SUMO2	6613	genome.wustl.edu	37	17	73170871	73170872	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	-	-	-	TA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr17:73170871_73170872insTA	ENST00000578238.1	-	3	360_361	c.71_72insTA	c.(70-72)atcfs	p.I24fs	SUMO2_ENST00000314523.7_Intron|SUMO2_ENST00000420826.2_Frame_Shift_Ins_p.I67fs					small ubiquitin-like modifier 2											NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CTGTTTCATTGATTGGTTGCCC	0.342																																						dbGAP											0			17																																								70682467	SO:0001589	frameshift_variant	0				CCDS45773.1, CCDS45774.1	17q25	2013-06-05	2013-06-05	2004-05-19	ENSG00000188612	ENSG00000188612			11125	protein-coding gene	gene with protein product		603042	"SMT3 (suppressor of mif two 3, yeast) homolog 2", "SMT3 suppressor of mif two 3 homolog 2 (yeast)", "SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae)"	SMT3H2		8630065	Standard	NM_006937		Approved	SMT3B	uc002jne.3	P61956		ENST00000578238.1:c.71_72insTA	17.37:g.73170871_73170872insTA	ENSP00000461997:p.Ile24fs	125	0.79	1		4	20	1	70682466	38	36.67	22		Frame_Shift_Ins	INS	HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like	p.N68fs	ENST00000578238.1	37	c.201_200		17																																																																																			-	HMMPfam_ubiquitin,HMMSmart_SM00213,superfamily_Ubiquitin-like		0.342	SUMO2-003	PUTATIVE	basic|exp_conf	protein_coding	SUMO2	protein_coding	OTTHUMT00000446616.1	-	NM_006937		70682467	-1	no_errors	NM_006937.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	TA	TA	73170872	-	TA	73170871	7	5	119	1	0	1	1	0	0	0	0	0	15385	1280	45	0	94	0	SUMO2	17	73170871	Frame_Shift_Ins	INS	-	TCGA-AB-2927-03A-01W-0755-09		73170871	8024339	20	1368											
TCF4	6925	genome.wustl.edu	37	18	52896119	52896120	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr18:52896119_52896120insG	ENST00000356073.4	-	18	2436_2437	c.1825_1826insC	c.(1825-1827)cagfs	p.Q609fs	TCF4_ENST00000566286.1_Frame_Shift_Ins_p.Q606fs|TCF4_ENST00000537856.3_Frame_Shift_Ins_p.Q479fs|TCF4_ENST00000570177.2_Frame_Shift_Ins_p.Q479fs|TCF4_ENST00000564228.1_Frame_Shift_Ins_p.Q538fs|TCF4_ENST00000564999.1_Frame_Shift_Ins_p.Q609fs|TCF4_ENST00000398339.1_Frame_Shift_Ins_p.Q715fs|TCF4_ENST00000567880.1_Frame_Shift_Ins_p.Q549fs|TCF4_ENST00000565018.2_Frame_Shift_Ins_p.Q613fs|TCF4_ENST00000561992.1_Frame_Shift_Ins_p.Q479fs|TCF4_ENST00000543082.1_Frame_Shift_Ins_p.Q567fs|TCF4_ENST00000544241.2_Frame_Shift_Ins_p.Q542fs|TCF4_ENST00000457482.3_Frame_Shift_Ins_p.Q453fs|TCF4_ENST00000537578.1_Frame_Shift_Ins_p.Q589fs|TCF4_ENST00000354452.3_Frame_Shift_Ins_p.Q613fs|TCF4_ENST00000568673.1_Frame_Shift_Ins_p.Q589fs|TCF4_ENST00000566279.1_Frame_Shift_Ins_p.Q553fs|TCF4_ENST00000564403.2_Frame_Shift_Ins_p.Q619fs|TCF4_ENST00000570287.2_Frame_Shift_Ins_p.Q449fs|TCF4_ENST00000540999.1_Frame_Shift_Ins_p.Q585fs|TCF4_ENST00000568740.1_Frame_Shift_Ins_p.Q584fs|TCF4_ENST00000561831.3_Frame_Shift_Ins_p.Q449fs	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	609	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|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)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGCCACCGCCTGGTGGAGGATC	0.619																																						dbGAP											0			18																																								51047118	SO:0001589	frameshift_variant	0			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"Basic helix-loop-helix proteins"	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1826dupC	18.37:g.52896121_52896121dupG	ENSP00000348374:p.Gln609fs	64	1.54	1		100	44.75	81	51047117	50	26.47	18	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Frame_Shift_Ins	INS	HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic	p.Q613fs	ENST00000356073.4	37	c.1838_1837	CCDS11960.1	18																																																																																			-	HMMPfam_HLH,HMMSmart_HLH,superfamily_HLH_basic		0.619	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	TCF4	protein_coding	OTTHUMT00000256014.1	-	NM_003199		51047118	-1	no_errors	NM_001083962.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	G	G	52896120	-	G	52896119	7	5	119	1	0	1	1	0	0	0	0	0	15692	1580	55	0	185	0	TCF4	18	52896119	Frame_Shift_Ins	INS	-	TCGA-AB-2927-03A-01W-0755-09		52896119	25181129	21	1369											
ASXL1	171023	genome.wustl.edu	37	20	31022234	31022234	+	Splice_Site	SNP	G	G	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr20:31022234G>T	ENST00000375687.4	+	13	2143		c.e13-1		ASXL1_ENST00000306058.5_Splice_Site	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1						bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TTTTTTTGCAGATTCAACTTT	0.468			"F, N, Mis"		"MDS, CMML"																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											47	50	49					20																	31022234		2203	4300	6503	30485895	SO:0001630	splice_region_variant	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"additional sex combs like 1 (Drosophila)"			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1720-1G>T	20.37:g.31022234G>T		16	0	0		14	62.16	23	30485895	39	33.9	20	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Splice_Site	SNP	-	e13-1	ENST00000375687.4	37	c.1720-1	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895999	0.72639	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0625	0.93099	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ASXL1	30485895	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.222000	0.95196	2.826000	0.97356	0.561000	0.74099	.	-	-		0.468	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	protein_coding	OTTHUMT00000078624.2	G	NM_015338	Intron	30485895	1	no_errors	NM_015338.4	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	31022234	G	T	31022234	5	4	119	1	0	0	0	0	0	0	1	0	1066	956	33	4	1775	4	ASXL1	20	31022234	Splice_Site	SNP	G	TCGA-AB-2927-03A-01W-0755-09		31022234	32003286	22	1370											
KRTAP24-1	643803	genome.wustl.edu	37	21	31654970	31654970	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr21:31654970G>A	ENST00000340345.4	-	1	306	c.281C>T	c.(280-282)cCc>cTc	p.P94L		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	94						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGAGTTGCAGGGCACAGAGGA	0.567																																						dbGAP											0			21											73	77	75					21																	31654970		2078	4227	6305	30576841	SO:0001583	missense	0			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"Keratin associated proteins"	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.281C>T	21.37:g.31654970G>A	ENSP00000339238:p.Pro94Leu	78	4.88	4					30576841	121	36.32	69	Q1XDX0	Missense_Mutation	SNP	HMMPfam_PMG	p.P94L	ENST00000340345.4	37	c.281	CCDS42915.1	21	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612176	0.46631	.	.	ENSG00000188694	ENST00000340345	T	0.03496	3.91	4.96	4.0	0.46444	.	0.465087	0.19868	N	0.104275	T	0.12774	0.0310	M	0.64997	1.995	0.44168	D	0.996978	D	0.69078	0.997	D	0.69142	0.962	T	0.00134	-1.2009	10	0.51188	T	0.08	-6.4021	10.5548	0.45110	0.0:0.196:0.804:0.0	.	94	Q3LI83	KR241_HUMAN	L	94	ENSP00000339238:P94L	ENSP00000339238:P94L	P	-	2	0	KRTAP24-1	30576841	0.964000	0.33143	0.966000	0.40874	0.183000	0.23260	1.756000	0.38390	2.674000	0.91012	0.591000	0.81541	CCC	-	HMMPfam_PMG		0.567	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP24-1	protein_coding	OTTHUMT00000246806.2	G	NM_001085455		30576841	-1	no_errors	NM_001085455.1	genbank	human	validated	54_36p	missense	SNP	0.980	A	A	31654970	G	A	31654970	3	1	119	1	0	0	0	0	1	0	0	0	8542	1232	43	2	487	2	KRTAP24-1	21	31654970	Missense_Mutation	SNP	G	TCGA-AB-2927-03A-01W-0755-09		31654970	16474925	23	1371											
RUNX1	861	genome.wustl.edu	37	21	36231783	36231783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr21:36231783G>A	ENST00000344691.4	-	3	2097	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R201*|RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R174*|RUNX1_ENST00000358356.5_Nonsense_Mutation_p.R174*|RUNX1_ENST00000486278.2_Nonsense_Mutation_p.R177*|RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R189*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R201*	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.R201*(5)|p.R201G(1)		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						CGAGGTTCTCGGGGCCCATCC	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	6	Substitution - Nonsense(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(5)|large_intestine(1)	21	GRCh37	CM992141	RUNX1	M							274	240	251					21																	36231783		2203	4300	6503	35153653	SO:0001587	stop_gained	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.520C>T	21.37:g.36231783G>A	ENSP00000340690:p.Arg174*	106	3.6	4		437	43.34	335	35153653	48	33.33	24	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R201*	ENST00000344691.4	37	c.601	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.081424	0.98643	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7194	12.147	0.54028	0.0:0.0:0.8085:0.1914	.	.	.	.	X	174;201;201;189;174;177;174;189;177	.	ENSP00000300305:R201X	R	-	1	2	RUNX1	35153653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.798000	0.47884	1.088000	0.41272	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	G			35153653	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	36231783	G	A	36231783	4	1	119	1	0	0	0	0	0	1	0	0	13746	1124	39	1	890	1	RUNX1	21	36231783	Nonsense_Mutation	SNP	G	TCGA-AB-2927-03A-01W-0755-09	4576813	36231783	11898112	24	1372											
RUNX1	861	genome.wustl.edu	37	21	36252876	36252876	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chr21:36252876C>A	ENST00000344691.4	-	2	1982	c.405G>T	c.(403-405)agG>agT	p.R135S	RUNX1_ENST00000437180.1_Missense_Mutation_p.R162S|RUNX1_ENST00000399240.1_Missense_Mutation_p.R135S|RUNX1_ENST00000358356.5_Missense_Mutation_p.R135S|RUNX1_ENST00000486278.2_Missense_Mutation_p.R138S|RUNX1_ENST00000325074.5_Missense_Mutation_p.R150S|RUNX1_ENST00000300305.3_Missense_Mutation_p.R162S	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	135	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.N159fs*49(1)|p.R162S(1)		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						GACCGACAAACCTGAGGTCAT	0.438			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	2	Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)	21											122	108	113					21																	36252876		2203	4300	6503	35174746	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.405G>T	21.37:g.36252876C>A	ENSP00000340690:p.Arg135Ser	53	0	0		292	57.66	399	35174746	8	42.86	6	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.R162S	ENST00000344691.4	37	c.486	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	22.4	4.289625	0.80914	.	.	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	5.31	4.18	0.49190	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	0.99600	0.9855	M	0.91300	3.195	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.983;0.976;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.987;0.981;0.998;0.999;0.998	D	0.99564	1.0969	10	0.87932	D	0	-23.5262	2.8345	0.05510	0.0:0.4709:0.2714:0.2577	.	162;135;135;138;162;150;135	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	S	135;162;162;150;135;138;135;150;138	ENSP00000340690:R135S;ENSP00000300305:R162S;ENSP00000409227:R162S;ENSP00000319459:R150S;ENSP00000382184:R135S;ENSP00000351123:R135S;ENSP00000382182:R150S;ENSP00000438019:R138S	ENSP00000300305:R162S	R	-	3	2	RUNX1	35174746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.769000	0.38522	2.652000	0.90054	0.655000	0.94253	AGG	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.438	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	C			35174746	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	36252876	C	A	36252876	3	1	119	1	0	0	0	0	1	0	0	0	13746	506	18	4	1009	4	RUNX1	21	36252876	Missense_Mutation	SNP	C	TCGA-AB-2927-03A-01W-0755-09	21093	36252876	11877019	25	1373											
CXorf58	254158	genome.wustl.edu	37	X	23953460	23953460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chrX:23953460C>T	ENST00000379211.3	+	7	1252	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	235										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAACCGTCTACGAAATGAAAT	0.378																																						dbGAP											0			X											86	77	80					X																	23953460		2203	4300	6503	23863381	SO:0001587	stop_gained	0			AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.703C>T	X.37:g.23953460C>T	ENSP00000368511:p.Arg235*	131	1.49	2					23863381	79	35.25	43		Nonsense_Mutation	SNP	NULL	p.R235*	ENST00000379211.3	37	c.703	CCDS14209.1	X	.	.	.	.	.	.	.	.	.	.	c	39	7.584849	0.98374	.	.	ENSG00000165182	ENST00000379211	.	.	.	6.07	3.28	0.37604	.	0.977993	0.08374	N	0.955636	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0082	7.8706	0.29563	0.5601:0.361:0.0:0.0789	.	.	.	.	X	235	.	ENSP00000368511:R235X	R	+	1	2	CXorf58	23863381	0.924000	0.31332	0.054000	0.19295	0.620000	0.37586	0.584000	0.23864	0.249000	0.21456	0.540000	0.68198	CGA	-	NULL		0.378	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf58	protein_coding	OTTHUMT00000056071.1	C	NM_152761		23863381	1	no_errors	NM_152761.1	genbank	human	predicted	54_36p	nonsense	SNP	0.770	T	T	23953460	C	T	23953460	4	4	119	1	0	0	0	0	0	1	0	0	4114	528	19	1	725	1	CXorf58	23	23953460	Nonsense_Mutation	SNP	C	TCGA-AB-2927-03A-01W-0755-09		23953460	131317100	26	1374											
SRPX	8406	genome.wustl.edu	37	X	38016254	38016254	+	Silent	SNP	C	C	T			TCGA-AB-2927-03A-01W-0755-09	TCGA-AB-2927-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46bbb19d-2bc9-4f0a-ac4e-cad7327ca142	26459589-446d-4b29-90b8-e2d482fe291b	g.chrX:38016254C>T	ENST00000378533.3	-	8	1090	c.984G>A	c.(982-984)acG>acA	p.T328T	SRPX_ENST00000432886.2_Silent_p.T269T|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Silent_p.T315T|SRPX_ENST00000538295.1_Silent_p.T328T|SRPX_ENST00000479015.1_5'UTR|SRPX_ENST00000544439.1_Silent_p.T308T	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	328					autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTGCAGCTGCCGTTCTGACAC	0.502																																						dbGAP											0			X											113	94	101					X																	38016254		2202	4300	6502	37901198	SO:0001819	synonymous_variant	0			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"sushi-repeat-containing protein, X chromosome", "sushi-repeat-containing protein, X-linked"			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.984G>A	X.37:g.38016254C>T		132	0.75	1		3	0	0	37901198	95	30.43	42	A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_HYR,superfamily_Complement control module/SCR domain	p.T328	ENST00000378533.3	37	c.984	CCDS14245.1	X																																																																																			-	NULL		0.502	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	protein_coding	OTTHUMT00000056243.1	C	NM_006307		37901198	-1	no_errors	NM_006307.3	genbank	human	provisional	54_36p	silent	SNP	0.437	T	T	38016254	C	T	38016254	2	4	119	1	0	0	0	0	0	0	0	1	15163	639	23	1		1	SRPX	23	38016254	Silent	SNP	C	TCGA-AB-2927-03A-01W-0755-09	14062794	38016254	117254306	27	1375											
DNMT3A	1788	genome.wustl.edu	37	2	25462065	25462065	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr2:25462065T>C	ENST00000264709.3	-	20	2679	c.2342A>G	c.(2341-2343)gAt>gGt	p.D781G	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D781G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.D592G|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D558G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	781	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTTTGGCATCAATCATCAC	0.562			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											65	59	61					2																	25462065		2203	4300	6503	25315569	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2342A>G	2.37:g.25462065T>C	ENSP00000264709:p.Asp781Gly	59	9.23	6		29	65.06	54	25315569	57	40.62	39	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.D781G	ENST00000264709.3	37	c.2342	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378201	0.82682	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	5.46	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.97860	0.9297	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;0.988	D;B	0.73708	0.981;0.423	D	0.97629	1.0141	10	0.72032	D	0.01	-8.5836	9.6545	0.39917	0.0:0.083:0.0:0.917	.	781;592	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	G	592;781;781;558	ENSP00000370122:D592G;ENSP00000324375:D781G;ENSP00000264709:D781G;ENSP00000384237:D558G	ENSP00000264709:D781G	D	-	2	0	DNMT3A	25315569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	0.909000	0.36697	0.459000	0.35465	GAT	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.562	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	T	NM_022552		25315569	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	25462065	T	C	25462065	3	2	120	1	0	0	0	0	1	0	0	0	4676	1435	50	3	412	3	DNMT3A	2	25462065	Missense_Mutation	SNP	T	TCGA-AB-2928-03A-01W-0745-08		25462065	217737308	1	1376											
DNMT3A	1788	genome.wustl.edu	37	2	25470516	25470516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr2:25470516G>A	ENST00000264709.3	-	8	1295	c.958C>T	c.(958-960)Cga>Tga	p.R320*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.R320*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.R131*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.R97*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	320	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R320*(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCTGCTCGGCTCCGGCCC	0.637			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	2											111	116	114					2																	25470516		2203	4300	6503	25324020	SO:0001587	stop_gained	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.958C>T	2.37:g.25470516G>A	ENSP00000264709:p.Arg320*	88	13.46	14		40	28.57	16	25324020	73	44.36	59	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R320*	ENST00000264709.3	37	c.958	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	40	8.102727	0.98654	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.97	4.97	0.65823	.	0.063127	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8665	16.9479	0.86235	0.0:0.0:1.0:0.0	.	.	.	.	X	131;320;320;97	.	ENSP00000264709:R320X	R	-	1	2	DNMT3A	25324020	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.044000	0.64214	2.584000	0.87258	0.462000	0.41574	CGA	-	HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25324020	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	25470516	G	A	25470516	4	1	120	1	0	0	0	0	0	1	0	0	4676	1124	39	1	1844	1	DNMT3A	2	25470516	Nonsense_Mutation	SNP	G	TCGA-AB-2928-03A-01W-0745-08	8451	25470516	217728857	2	1377											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	94	10.48	11		26	59.38	38	208821358	102	37.72	63	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	120	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2928-03A-01W-0745-08	183642597	209113113	34086260	3	1378											
TET2	54790	genome.wustl.edu	37	4	106158442	106158442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr4:106158442delC	ENST00000540549.1	+	3	4203	c.3343delC	c.(3343-3345)cctfs	p.P1115fs	TET2_ENST00000545826.1_Frame_Shift_Del_p.P1115fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.P1136fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.P1115fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.P1115fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.P1115fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.P1115fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1115					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACTAGATACTCCTATAAAAAA	0.373			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4							,	10,4254		5,0,2127	51	57	55		,	-11.6	0.1	4		55	21,8233		10,1,4116	no	frameshift,frameshift	TET2	NM_017628.4,NM_001127208.2	,	15,1,6243	A1A1,A1R,RR		0.2544,0.2345,0.2476	,	,	106158442	31,12487	2203	4300	6503	106377891	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3343delC	4.37:g.106158442delC	ENSP00000442788:p.Pro1115fs	72	10.84	9		15	37.5	9	106377891	74	39.84	51	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.P1115fs	ENST00000540549.1	37	c.3343	CCDS47120.1	4																																																																																			-	NULL		0.373	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106377891	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	frame_shift_del	DEL	0.996	-	-	106158442	C	-	106158442	7	5	120	1	0	1	0	1	0	0	0	0	15767	855	30	0	3345	0	TET2	4	106158442	Frame_Shift_Del	DEL	C	TCGA-AB-2928-03A-01W-0745-08		106158442	84995834	4	1379											
TET2	54790	genome.wustl.edu	37	4	106190777	106190777	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr4:106190777A>T	ENST00000540549.1	+	9	4915	c.4055A>T	c.(4054-4056)gAa>gTa	p.E1352V	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.E1373V|TET2_ENST00000380013.4_Missense_Mutation_p.E1352V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1352					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTGAATATGAACACAGAGCA	0.428			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4											101	86	90					4																	106190777		692	1591	2283	106410226	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4055A>T	4.37:g.106190777A>T	ENSP00000442788:p.Glu1352Val	152	11.86	21		19	50	19	106410226	181	39.46	118	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.E154V	ENST00000540549.1	37	c.461	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	A	32	5.180554	0.94846	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.14266	2.52;2.52;2.52	5.87	5.87	0.94306	.	.	.	.	.	T	0.43787	0.1263	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.48364	-0.9042	9	0.87932	D	0	-13.1879	16.2742	0.82636	1.0:0.0:0.0:0.0	.	1373;1352	E7EQS8;Q6N021	.;TET2_HUMAN	V	1352;1373;1352	ENSP00000442788:E1352V;ENSP00000425443:E1373V;ENSP00000369351:E1352V	ENSP00000369351:E1352V	E	+	2	0	TET2	106410226	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	9.163000	0.94750	2.253000	0.74438	0.533000	0.62120	GAA	-	NULL		0.428	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	A	NM_017628		106410226	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	106190777	A	T	106190777	3	4	120	1	0	0	0	0	1	0	0	0	15767	246	9	5	4170	5	TET2	4	106190777	Missense_Mutation	SNP	A	TCGA-AB-2928-03A-01W-0745-08	32335	106190777	84963499	5	1380											
SEMA3A	10371	genome.wustl.edu	37	7	83592543	83592543	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr7:83592543C>T	ENST00000265362.4	-	16	2152	c.1838G>A	c.(1837-1839)cGa>cAa	p.R613Q	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R613Q	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	613	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.R613Q(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTCTTCATTTCGCCTCTGGAA	0.403																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)	7											187	187	187					7																	83592543		2203	4300	6503	83430479	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1838G>A	7.37:g.83592543C>T	ENSP00000265362:p.Arg613Gln	190	4.98	10					83430479	138	19.65	34		Missense_Mutation	SNP	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMSmart_IG,HMMSmart_PSI,HMMPfam_ig,superfamily_Plexin-like_fold,superfamily_SSF48726	p.R613Q	ENST00000265362.4	37	c.1838	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740001	0.30865	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01527	4.8;4.8	5.9	4.91	0.64330	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.355176	0.32624	N	0.005858	T	0.00724	0.0024	N	0.01705	-0.755	0.31357	N	0.681812	B	0.02656	0.0	B	0.01281	0.0	T	0.43877	-0.9364	10	0.14252	T	0.57	.	3.4603	0.07531	0.0:0.5419:0.2844:0.1737	.	613	Q14563	SEM3A_HUMAN	Q	613	ENSP00000265362:R613Q;ENSP00000415260:R613Q	ENSP00000265362:R613Q	R	-	2	0	SEMA3A	83430479	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.637000	0.46553	2.802000	0.96397	0.650000	0.86243	CGA	-	HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726		0.403	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	protein_coding	OTTHUMT00000253355.2	C	NM_006080		83430479	-1	no_errors	NM_006080.2	genbank	human	reviewed	54_36p	missense	SNP	0.991	T	T	83592543	C	T	83592543	3	4	120	1	0	0	0	0	1	0	0	0	14024	884	31	1	485	1	SEMA3A	7	83592543	Missense_Mutation	SNP	C	TCGA-AB-2928-03A-01W-0745-08		83592543	75546120	6	1381											
FLT3	2322	genome.wustl.edu	37	13	28592629	28592629	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr13:28592629T>C	ENST00000241453.7	-	20	2597	c.2516A>G	c.(2515-2517)gAt>gGt	p.D839G	FLT3_ENST00000380982.4_Missense_Mutation_p.D839G|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	839	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATAGTTGGAATCACTCATGAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13											190	144	160					13																	28592629		2203	4300	6503	27490629	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2516A>G	13.37:g.28592629T>C	ENSP00000241453:p.Asp839Gly	171	5.98	11		171	25.65	59	27490629	130	24.02	43	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D839G	ENST00000241453.7	37	c.2516	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	T	27.0	4.791463	0.90367	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83837	-1.77;-1.77	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.83917	0.5358	N	0.20401	0.57	0.80722	D	1	P	0.44139	0.827	P	0.58331	0.837	D	0.85839	0.1396	10	0.59425	D	0.04	.	16.2826	0.82703	0.0:0.0:0.0:1.0	.	839	P36888	FLT3_HUMAN	G	839	ENSP00000241453:D839G;ENSP00000370369:D839G	ENSP00000241453:D839G	D	-	2	0	FLT3	27490629	1.000000	0.71417	0.856000	0.33681	0.928000	0.56348	8.037000	0.88933	2.253000	0.74438	0.454000	0.30748	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	T			27490629	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	28592629	T	C	28592629	3	2	120	1	0	0	0	0	1	0	0	0	5942	1435	50	3	485	3	FLT3	13	28592629	Missense_Mutation	SNP	T	TCGA-AB-2928-03A-01W-0745-08		28592629	86577249	7	1382											
PKD1L2	114780	genome.wustl.edu	37	16	81180903	81180903	+	RNA	SNP	C	C	T			TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr16:81180903C>T	ENST00000525539.1	-	0	5187				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGGCTTACCTTTCATTTCT	0.512																																						dbGAP											0			16											134	136	135					16																	81180903		1943	4128	6071	79738404			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81180903C>T		248	13.15	38					79738404	78	44.29	62	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00303,PatternScan_CHANNEL_COLICIN,HMMPfam_PLAT,HMMSmart_SM00308,HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PKD_channel,superfamily_C-type lectin-like	p.R1731K	ENST00000525539.1	37	c.5192		16																																																																																			-	NULL		0.512	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	polymorphic_pseudogene	OTTHUMT00000387972.2	C			79738404	-1	no_errors	ENST00000299598	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	81180903	C	T	81180903	1	4	120	0	1	0	0	0	0	0	0	0	11965	695	24	2		2	PKD1L2	16	81180903	RNA	SNP	C	TCGA-AB-2928-03A-01W-0745-08		81180903	9173850	8	1383											
CCBE1	147372	genome.wustl.edu	37	18	57103289	57103289	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr18:57103289C>T	ENST00000439986.4	-	11	1109	c.1072G>A	c.(1072-1074)Ggg>Agg	p.G358R	CCBE1_ENST00000398179.2_Missense_Mutation_p.G87R	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	358					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GTCCGGTGCCCGAACACCTTT	0.547																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	dbGAP											0			18											141	145	144					18																	57103289		2203	4300	6503	55254269	SO:0001583	missense	0			AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.1072G>A	18.37:g.57103289C>T	ENSP00000404464:p.Gly358Arg	116	15.22	21					55254269	118	41.38	84	Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_Collagen,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.G358R	ENST00000439986.4	37	c.1072	CCDS32838.1	18	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233200	0.79688	.	.	ENSG00000183287	ENST00000439986;ENST00000398179	D;T	0.85088	-1.94;1.6	5.8	4.0	0.46444	.	0.048365	0.85682	D	0.000000	T	0.81997	0.4941	M	0.63843	1.955	0.53005	D	0.999965	P;P;P	0.47841	0.901;0.84;0.564	B;B;B	0.39152	0.292;0.116;0.119	T	0.79115	-0.1936	10	0.27082	T	0.32	-24.9056	15.6345	0.76941	0.0:0.7396:0.2604:0.0	.	87;358;167	Q6UXH8-2;Q6UXH8;Q6UXH8-3	.;CCBE1_HUMAN;.	R	358;87	ENSP00000404464:G358R;ENSP00000381241:G87R	ENSP00000381241:G87R	G	-	1	0	CCBE1	55254269	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	3.519000	0.53458	0.772000	0.33382	-0.150000	0.13652	GGG	-	NULL		0.547	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBE1	protein_coding	OTTHUMT00000449685.2	C	NM_133459		55254269	-1	no_errors	NM_133459.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	57103289	C	T	57103289	3	4	120	1	0	0	0	0	1	0	0	0	2731	652	23	1	152	1	CCBE1	18	57103289	Missense_Mutation	SNP	C	TCGA-AB-2928-03A-01W-0745-08		57103289	20973959	9	1384											
ZNF99	7652	genome.wustl.edu	37	19	22952090	22952090	+	Missense_Mutation	SNP	C	C	T	rs201519928	byFrequency	TCGA-AB-2928-03A-01W-0745-08	TCGA-AB-2928-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	39402967-4dad-4a46-b8d0-5fcb824bc2c2	233dc863-8cfb-4b4d-ad97-ee0685247f3a	g.chr19:22952090C>T	ENST00000596209.1	-	2	130	c.40G>A	c.(40-42)Gct>Act	p.A14T	ZNF99_ENST00000397104.3_Missense_Mutation_p.A35T	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCTCCAGAGCGAATTCTATG	0.408													A|||	9	0.00179712	0.0061	0.0014	5008	,	,		15476	0		0	False		,,,				2504	0					dbGAP											0			19						A	THR/ALA	32,4364		0,32,2166	76	82	80		103	-2.1	0	19		80	0,8600		0,0,4300	no	missense	ZNF99	NM_001080409.2	58	0,32,6466	TT,TC,CC		0.0,0.7279,0.2462	benign	35/912	22952090	32,12964	2198	4300	6498	22743930	SO:0001583	missense	0			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"Zinc fingers, C2H2-type", "-"	13175	protein-coding gene	gene with protein product		603981	"zinc finger protein 99 (F8281)", "chromosome 19 open reading frame 9"	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.40G>A	19.37:g.22952090C>T	ENSP00000472969:p.Ala14Thr	87	15.24	16		0	0	0	22743930	85	44.59	70	M0R335	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.A35T	ENST00000596209.1	37	c.103	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	a	2.370	-0.344467	0.05208	0.007279	0.0	ENSG00000213973	ENST00000397104	T	0.01051	5.4	1.04	-2.08	0.07254	Krueppel-associated box (4);	.	.	.	.	T	0.00178	0.0005	N	0.00028	-2.64	0.09310	N	1	B	0.31227	0.314	B	0.29942	0.109	T	0.30707	-0.9969	9	0.06891	T	0.86	.	1.8418	0.03151	0.2931:0.2542:0.0:0.4528	.	35	A8MXY4	ZNF99_HUMAN	T	35	ENSP00000380293:A35T	ENSP00000380293:A35T	A	-	1	0	ZNF99	22743930	0.449000	0.25689	0.003000	0.11579	0.002000	0.02628	-0.456000	0.06754	-1.794000	0.01256	-1.953000	0.00484	GCT	-	HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box		0.408	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	protein_coding	OTTHUMT00000464591.1	C	XM_065124		22743930	-1	no_errors	NM_001080409.1	genbank	human	provisional	54_36p	missense	SNP	0.002	T	T	22952090	C	T	22952090	3	4	120	1	0	0	0	0	1	0	0	0	18201	768	27	1	3033	1	ZNF99	19	22952090	Missense_Mutation	SNP	C	TCGA-AB-2928-03A-01W-0745-08		22952090	36176893	10	1385											
SYPL2	284612	genome.wustl.edu	37	1	110019500	110019500	+	Silent	SNP	G	G	A			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr1:110019500G>A	ENST00000369872.3	+	4	573	c.357G>A	c.(355-357)gtG>gtA	p.V119V	SYPL2_ENST00000401021.3_Silent_p.V119V	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	119	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGTTCTTCGTGACCCTTGGCA	0.542																																						dbGAP											0			1											105	107	106					1																	110019500		1996	4170	6166	109821023	SO:0001819	synonymous_variant	0			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"mitsugumin-29"					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.357G>A	1.37:g.110019500G>A		82	5.75	5					109821023	145	35.53	81	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Silent	SNP	HMMPfam_MARVEL	p.V119	ENST00000369872.3	37	c.357	CCDS41365.1	1																																																																																			-	HMMPfam_MARVEL		0.542	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYPL2	protein_coding	OTTHUMT00000030191.1	G	NM_001006603		109821023	1	no_errors	NM_001040709.1	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	110019500	G	A	110019500	2	1	121	1	0	0	0	0	0	0	0	1	15460	1277	45	2		2	SYPL2	1	110019500	Silent	SNP	G	TCGA-AB-2929-03A-01W-0732-08		110019500	139231121	1	1386											
NTSR2	23620	genome.wustl.edu	37	2	11800178	11800178	+	Missense_Mutation	SNP	G	G	A	rs377014236		TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr2:11800178G>A	ENST00000306928.5	-	3	1014	c.980C>T	c.(979-981)gCg>gTg	p.A327V		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	327					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.A327V(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTCAGTCCACGCGTCATCAGG	0.597													G|||	1	0.000199681	0	0	5008	,	,		21195	0		0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	large_intestine(1)	2						G	VAL/ALA	0,4406		0,0,2203	103	87	93		980	-6	0	2		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	NTSR2	NM_012344.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	327/411	11800178	1,13005	2203	4300	6503	11717629	SO:0001583	missense	0			Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"GPCR / Class A : Neurotensin receptors"	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.980C>T	2.37:g.11800178G>A	ENSP00000303686:p.Ala327Val	47	0	0					11717629	71	26.26	26	Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.A327V	ENST00000306928.5	37	c.980	CCDS1681.1	2	.	.	.	.	.	.	.	.	.	.	G	7.480	0.648529	0.14516	0.0	1.16E-4	ENSG00000169006	ENST00000306928	T	0.74315	-0.83	3.33	-6.04	0.02178	GPCR, rhodopsin-like superfamily (1);	3.522020	0.00649	N	0.000556	T	0.50497	0.1619	N	0.14661	0.345	0.09310	N	1	B	0.31290	0.318	B	0.24269	0.052	T	0.44787	-0.9305	10	0.15952	T	0.53	0.7382	6.8186	0.23845	0.0:0.1572:0.3673:0.4755	.	327	O95665	NTR2_HUMAN	V	327	ENSP00000303686:A327V	ENSP00000303686:A327V	A	-	2	0	NTSR2	11717629	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.071000	0.14594	-1.535000	0.01740	-1.313000	0.01306	GCG	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.597	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTSR2	protein_coding	OTTHUMT00000239297.1	G			11717629	-1	no_errors	NM_012344.3	genbank	human	reviewed	54_36p	missense	SNP	0.001	A	A	11800178	G	A	11800178	3	1	121	1	0	0	0	0	1	0	0	0	10711	1087	38	1	260	1	NTSR2	2	11800178	Missense_Mutation	SNP	G	TCGA-AB-2929-03A-01W-0732-08		11800178	231399195	2	1387											
SF3B1	23451	genome.wustl.edu	37	2	198266834	198266834	+	Missense_Mutation	SNP	T	T	C	rs559063155		TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr2:198266834T>C	ENST00000335508.6	-	15	2189	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'UTR	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	700					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K700E(179)|p.Q699_K700del(2)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCCGAACTTTCTGCTGCTCA	0.408			Mis		myelodysplastic syndrome								T|||	1	0.000199681	0	0	5008	,	,		17946	0		0	False		,,,				2504	0.001					dbGAP		Dom	yes		2	2q33.1	23451	"splicing factor 3b, subunit 1, 155kDa"		L	181	Substitution - Missense(179)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(153)|NS(20)|breast(5)|pancreas(2)|central_nervous_system(1)	2																																								197975079	SO:0001583	missense	0			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"splicing factor 3b, subunit 1, 155kD"			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2098A>G	2.37:g.198266834T>C	ENSP00000335321:p.Lys700Glu	44	0	0		291	46.99	258	197975079	57	49.57	57	E9PCH3	Missense_Mutation	SNP	HMMPfam_HEAT,HMMPfam_SF3b1,superfamily_ARM repeat	p.K700E	ENST00000335508.6	37	c.2098	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	T	33	5.243295	0.95272	.	.	ENSG00000115524	ENST00000335508	T	0.63580	-0.05	6.02	6.02	0.97574	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85609	0.5736	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89820	0.3988	10	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	700	O75533	SF3B1_HUMAN	E	700	ENSP00000335321:K700E	ENSP00000335321:K700E	K	-	1	0	SF3B1	197975079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.304000	0.77564	0.528000	0.53228	AAA	-	HMMPfam_HEAT,superfamily_ARM repeat		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	protein_coding	OTTHUMT00000335245.2	T			197975079	-1	no_errors	NM_012433.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	198266834	T	C	198266834	3	2	121	1	0	0	0	0	1	0	0	0	14149	1792	62	3	1860	3	SF3B1	2	198266834	Missense_Mutation	SNP	T	TCGA-AB-2929-03A-01W-0732-08	186466656	198266834	44932539	3	1388											
PCDHGA10	56106	genome.wustl.edu	37	5	140793765	140793767	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	AGA	AGA	AGA	-	AGA	AGA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr5:140793765_140793767delAGA	ENST00000398610.2	+	1	1023_1025	c.1023_1025delAGA	c.(1021-1026)gtagaa>gta	p.E342del	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	342	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATTACAGTAGAAGATGTAAAT	0.394																																						dbGAP											0			5																																								140773951	SO:0001651	inframe_deletion	0				CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"Cadherins / Protocadherins : Clustered"	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.1023_1025delAGA	5.37:g.140793768_140793770delAGA	ENSP00000381611:p.Glu342del	0	0	0		0	0	0	140773949	0	27.91	12	Q9Y5E0	In_Frame_Del	DEL	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.E342in_frame_del	ENST00000398610.2	37	c.1023_1025	CCDS47292.1	5																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like		0.394	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA10	protein_coding	OTTHUMT00000374747.1	AGA	NM_018913		140773951	1	no_errors	NM_018913.2	genbank	human	reviewed	54_36p	in_frame_del	DEL	0.002:0.003:0.175	-	-	140793767	AGA	-	140793765	7	5	121	1	0	1	0	1	0	0	0	0	11551	407	15	0	1025	0	PCDHGA10	5	140793765	In_Frame_Del	DEL	AGA	TCGA-AB-2929-03A-01W-0732-08		140793765	40121495	4	1389											
CD74	972	genome.wustl.edu	37	5	149784252	149784252	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr5:149784252G>A	ENST00000009530.7	-	6	617	c.616C>T	c.(616-618)Cca>Tca	p.P206S	CD74_ENST00000377795.3_Intron|CD74_ENST00000353334.6_Missense_Mutation_p.P206S|CD74_ENST00000524315.1_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	206					activation of MAPK activity (GO:0000187)|antigen processing and presentation of endogenous antigen (GO:0019883)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|chaperone mediated protein folding requiring cofactor (GO:0051085)|defense response (GO:0006952)|immunoglobulin mediated immune response (GO:0016064)|intracellular protein transport (GO:0006886)|macrophage migration inhibitory factor signaling pathway (GO:0035691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of peptide secretion (GO:0002792)|negative regulation of T cell differentiation (GO:0045581)|negative thymic T cell selection (GO:0045060)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of type 2 immune response (GO:0002830)|positive thymic T cell selection (GO:0045059)|prostaglandin biosynthetic process (GO:0001516)|protein complex assembly (GO:0006461)|regulation of macrophage activation (GO:0043030)|signal transduction (GO:0007165)|T cell selection (GO:0045058)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|macrophage migration inhibitory factor receptor complex (GO:0035692)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|NOS2-CD74 complex (GO:0035693)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)|vacuole (GO:0005773)	beta-amyloid binding (GO:0001540)|cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|macrophage migration inhibitory factor binding (GO:0035718)|MHC class II protein binding (GO:0042289)|MHC class II protein binding, via antigen binding groove (GO:0042658)|MHC class II protein complex binding (GO:0023026)|protein binding involved in protein folding (GO:0044183)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTTTCGGTGGAGCGTCAGTG	0.592			T	ROS1	NSCLC																																	dbGAP		Dom	yes		5	5q32	972	"CD74 molecule, major histocompatibility complex, class II invariant chain"		E	0			5											41	41	41					5																	149784252		1943	4129	6072	149764445	SO:0001583	missense	0				CCDS34276.1, CCDS47308.1, CCDS47309.1	5q32	2012-09-20	2006-03-28		ENSG00000019582	ENSG00000019582		"CD molecules"	1697	protein-coding gene	gene with protein product	"HLA-DR-gamma", "Ia-associated invariant chain", "gamma chain of class II antigens", "MHC HLA-DR gamma chain"	142790	"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)"	DHLAG		6324166, 3001652	Standard	NM_004355		Approved		uc003lsc.3	P04233	OTTHUMG00000163559	ENST00000009530.7:c.616C>T	5.37:g.149784252G>A	ENSP00000009530:p.Pro206Ser	53	3.57	2		1915	51.11	2008	149764445	68	41.53	49	A8K7R1|B4DNE8|D3DQG3|D3DQG4|Q14597|Q29832|Q5U0J8|Q8SNA0|Q8WLP6	Missense_Mutation	SNP	HMMPfam_Thyroglobulin_1,HMMSmart_SM00211,PatternScan_THYROGLOBULIN_1_1,superfamily_Thyroglobulin type-1 domain,HMMPfam_MHCassoc_trimer,superfamily_Class II MHC-associated invariant chain ectoplasmic trimerization domain,HMMPfam_MHC2-interact	p.P206S	ENST00000009530.7	37	c.616	CCDS47309.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.17|18.17	3.563440|3.563440	0.65651|0.65651	.|.	.|.	ENSG00000019582|ENSG00000019582	ENST00000353334;ENST00000009530|ENST00000518797	T|.	0.63255|.	-0.03|.	5.56|5.56	1.5|1.5	0.22942|0.22942	MHC class II-associated invariant chain, trimerisation (3);Thyroglobulin type-1 (1);|.	0.427242|.	0.27155|.	N|.	0.020663|.	T|T	0.44953|0.44953	0.1318|0.1318	M|M	0.70595|0.70595	2.14|2.14	0.09310|0.09310	N|N	1|1	P;B;P;B|.	0.36909|.	0.573;0.275;0.568;0.43|.	P;B;B;B|.	0.47827|.	0.558;0.116;0.229;0.211|.	T|T	0.36625|0.36625	-0.9740|-0.9740	10|5	0.37606|.	T|.	0.19|.	-1.4533|-1.4533	4.8471|4.8471	0.13519|0.13519	0.1703:0.0:0.5313:0.2984|0.1703:0.0:0.5313:0.2984	.|.	206;206;206;118|.	A9YLN4;P04233-2;P04233;B4DUJ2|.	.;.;HG2A_HUMAN;.|.	S|F	206|200	ENSP00000009530:P206S|.	ENSP00000009530:P206S|.	P|S	-|-	1|2	0|0	CD74|CD74	149764445|149764445	0.738000|0.738000	0.28186|0.28186	0.011000|0.011000	0.14972|0.14972	0.916000|0.916000	0.54674|0.54674	1.622000|1.622000	0.36997|0.36997	0.681000|0.681000	0.31386|0.31386	0.491000|0.491000	0.48974|0.48974	CCA|TCC	-	superfamily_Thyroglobulin type-1 domain,HMMPfam_MHCassoc_trimer,superfamily_Class II MHC-associated invariant chain ectoplasmic trimerization domain		0.592	CD74-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD74	protein_coding	OTTHUMT00000374178.1	G	NM_004355		149764445	-1	no_errors	NM_001025159.1	genbank	human	validated	54_36p	missense	SNP	0.002	A	A	149784252	G	A	149784252	3	1	121	1	0	0	0	0	1	0	0	0	3035	1174	41	2	290	2	CD74	5	149784252	Missense_Mutation	SNP	G	TCGA-AB-2929-03A-01W-0732-08	8990487	149784252	31131008	5	1390											
HIVEP1	3096	genome.wustl.edu	37	6	12125884	12125884	+	Silent	SNP	G	G	A	rs200675112		TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr6:12125884G>A	ENST00000379388.2	+	4	6188	c.5856G>A	c.(5854-5856)tcG>tcA	p.S1952S	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1952					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGCAGAAGTCGTTGCATTTGC	0.448													G|||	1	0.000199681	0	0.0014	5008	,	,		19281	0		0	False		,,,				2504	0					dbGAP											0			6						G		2,3780		0,2,1889	102	97	99		5856	-3.2	0.1	6		99	0,8222		0,0,4111	no	coding-synonymous	HIVEP1	NM_002114.2		0,2,6000	AA,AG,GG		0.0,0.0529,0.0167		1952/2719	12125884	2,12002	1891	4111	6002	12233870	SO:0001819	synonymous_variant	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5856G>A	6.37:g.12125884G>A		41	2.38	1		10	37.5	6	12233870	50	37.5	30	B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.S1952	ENST00000379388.2	37	c.5856	CCDS43426.1	6																																																																																			-	NULL		0.448	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12233870	1	no_errors	NM_002114.2	genbank	human	validated	54_36p	silent	SNP	0.006	A	A	12125884	G	A	12125884	2	1	121	1	0	0	0	0	0	0	0	1	7186	1132	40	1		1	HIVEP1	6	12125884	Silent	SNP	G	TCGA-AB-2929-03A-01W-0732-08		12125884	158989183	6	1391											
TNC	3371	genome.wustl.edu	37	9	117803360	117803360	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr9:117803360G>A	ENST00000350763.4	-	19	5663	c.5252C>T	c.(5251-5253)aCa>aTa	p.T1751I	TNC_ENST00000345230.3_Missense_Mutation_p.T1114I|TNC_ENST00000542877.1_Missense_Mutation_p.T1388I|TNC_ENST00000423613.2_Missense_Mutation_p.T1478I|TNC_ENST00000535648.1_Missense_Mutation_p.T1296I|TNC_ENST00000537320.1_Missense_Mutation_p.T1114I|TNC_ENST00000341037.4_Missense_Mutation_p.T1569I|TNC_ENST00000340094.3_Missense_Mutation_p.T1387I|TNC_ENST00000346706.3_Missense_Mutation_p.T1205I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1751	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CATGGAGGGTGTACCTGGAAC	0.468																																						dbGAP											0			9											148	115	126					9																	117803360		2203	4300	6503	116843181	SO:0001583	missense	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	5318	protein-coding gene	gene with protein product	"hexabrachion (tenascin)"	187380	"hexabrachion (tenascin C, cytotactin)", "deafness, autosomal dominant 56"	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.5252C>T	9.37:g.117803360G>A	ENSP00000265131:p.Thr1751Ile	97	2.02	2		16	38.46	10	116843181	173	40	116	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	HMMPfam_Fibrinogen_C,HMMSmart_FBG,superfamily_Fibrinogen_a/b/g_C,HMMPfam_fn3,HMMSmart_FN3,HMMPfam_EGF,HMMSmart_EGF,superfamily_FN_III-like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2	p.T1751I	ENST00000350763.4	37	c.5252	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474208	0.26423	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	6.08	1.03	0.20045	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.429588	0.28736	N	0.014310	T	0.38506	0.1043	L	0.41415	1.275	0.09310	N	1	B;B	0.14805	0.011;0.001	B;B	0.22152	0.038;0.009	T	0.24083	-1.0170	10	0.39692	T	0.17	.	6.3655	0.21453	0.1816:0.0:0.5946:0.2238	.	1478;1751	E9PC84;P24821	.;TENA_HUMAN	I	1387;1296;1205;1114;1751;1569;1478;1114;1388	ENSP00000344400:T1387I;ENSP00000438152:T1296I;ENSP00000344555:T1205I;ENSP00000345861:T1114I;ENSP00000265131:T1751I;ENSP00000339553:T1569I;ENSP00000411406:T1478I;ENSP00000443478:T1114I;ENSP00000442242:T1388I	ENSP00000344400:T1387I	T	-	2	0	TNC	116843181	0.055000	0.20627	0.001000	0.08648	0.002000	0.02628	1.915000	0.39976	0.144000	0.18951	-0.825000	0.03093	ACA	-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.468	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	protein_coding	OTTHUMT00000055418.2	G	NM_002160		116843181	-1	no_errors	NM_002160.2	genbank	human	validated	54_36p	missense	SNP	0.001	A	A	117803360	G	A	117803360	3	1	121	1	0	0	0	0	1	0	0	0	16267	1377	48	2	1393	2	TNC	9	117803360	Missense_Mutation	SNP	G	TCGA-AB-2929-03A-01W-0732-08		117803360	23410071	7	1392											
ITIH2	3698	genome.wustl.edu	37	10	7791219	7791219	+	Silent	SNP	C	C	T			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr10:7791219C>T	ENST00000358415.4	+	21	2929	c.2763C>T	c.(2761-2763)aaC>aaT	p.N921N	ITIH2_ENST00000379587.4_Silent_p.N910N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	921					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTGTGCACAACAGTGGAAAAG	0.463																																						dbGAP											0			10											223	198	206					10																	7791219		2203	4300	6503	7831225	SO:0001819	synonymous_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"inter-alpha (globulin) inhibitor, H2 polypeptide"			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2763C>T	10.37:g.7791219C>T		59	6.35	4		10	52.38	11	7831225	78	43.57	61	Q14659|Q15484|Q5T986	Silent	SNP	HMMPfam_VWA,HMMSmart_VWA,HMMSmart_VIT,HMMPfam_ITI_HC_C,HMMPfam_VIT,superfamily_SSF53300	p.N921	ENST00000358415.4	37	c.2763	CCDS31141.1	10																																																																																			-	HMMPfam_ITI_HC_C		0.463	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	protein_coding	OTTHUMT00000046678.2	C	NM_002216		7831225	1	no_errors	NM_002216.2	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	7791219	C	T	7791219	2	4	121	1	0	0	0	0	0	0	0	1	7904	477	17	2		2	ITIH2	10	7791219	Silent	SNP	C	TCGA-AB-2929-03A-01W-0732-08		7791219	127743528	8	1393											
TPH1	7166	genome.wustl.edu	37	11	18044466	18044466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr11:18044466C>A	ENST00000250018.2	-	9	1601	c.1039G>T	c.(1039-1041)Gga>Tga	p.G347*	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR|TPH1_ENST00000341556.2_Nonsense_Mutation_p.G347*	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	347					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTGGCATGTCCAGAAAGTGCA	0.353																																						dbGAP											0			11											92	86	88					11																	18044466		2200	4293	6493	18001042	SO:0001587	stop_gained	0			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"tryptophan 5-monooxygenase"	191060	"tryptophan hydroxylase (tryptophan 5-monooxygenase)"	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1039G>T	11.37:g.18044466C>A	ENSP00000250018:p.Gly347*	83	3.49	3		1	50	1	18001042	94	38.96	60	D3DQX6|O95188|O95189|Q16736|Q3KPG8	Nonsense_Mutation	SNP	HMMPfam_ACT,PatternScan_BIOPTERIN_HYDROXYL,HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains,superfamily_ACT-like	p.G347*	ENST00000250018.2	37	c.1039	CCDS7829.1	11	.	.	.	.	.	.	.	.	.	.	C	45	11.783009	0.99602	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	.	.	.	5.78	5.78	0.91487	.	0.048717	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.2209	20.017	0.97481	0.0:1.0:0.0:0.0	.	.	.	.	X	347	.	ENSP00000250018:G347X	G	-	1	0	TPH1	18001042	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.732000	0.93576	0.555000	0.69702	GGA	-	HMMPfam_Biopterin_H,superfamily_Aromatic aminoacid monoxygenases catalytic and oligomerization domains		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH1	protein_coding	OTTHUMT00000389696.1	C	NM_004179		18001042	-1	no_errors	NM_004179.1	genbank	human	provisional	54_36p	nonsense	SNP	1.000	A	A	18044466	C	A	18044466	4	1	121	1	0	0	0	0	0	1	0	0	16398	603	21	4	303	4	TPH1	11	18044466	Nonsense_Mutation	SNP	C	TCGA-AB-2929-03A-01W-0732-08		18044466	116962050	9	1394											
E2F8	79733	genome.wustl.edu	37	11	19252361	19252361	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr11:19252361A>G	ENST00000527884.1	-	8	1319	c.1087T>C	c.(1087-1089)Ttt>Ctt	p.F363L	E2F8_ENST00000250024.4_Missense_Mutation_p.F363L|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	363					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGGAGTAAAATGAATGACT	0.423																																						dbGAP											0			11											54	53	53					11																	19252361		2199	4293	6492	19208937	SO:0001583	missense	0				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1087T>C	11.37:g.19252361A>G	ENSP00000434199:p.Phe363Leu	89	5.21	5		4	33.33	2	19208937	101	42.31	77	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	HMMPfam_E2F_TDP,superfamily_"Winged helix" DNA-binding domain	p.F363L	ENST00000527884.1	37	c.1087	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	A	2.618	-0.289170	0.05605	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	T;T	0.15603	2.41;2.41	5.76	-0.629	0.11533	.	0.798109	0.12099	N	0.499694	T	0.04137	0.0115	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38845	-0.9642	10	0.02654	T	1	-0.1226	1.4763	0.02427	0.2851:0.2782:0.3019:0.1348	.	363	A0AVK6	E2F8_HUMAN	L	363	ENSP00000434199:F363L;ENSP00000250024:F363L	ENSP00000250024:F363L	F	-	1	0	E2F8	19208937	0.004000	0.15560	0.000000	0.03702	0.004000	0.04260	0.427000	0.21379	-0.122000	0.11766	0.533000	0.62120	TTT	-	NULL		0.423	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	protein_coding	OTTHUMT00000387830.1	A	NM_024680		19208937	-1	no_errors	NM_024680.2	genbank	human	validated	54_36p	missense	SNP	0.000	G	G	19252361	A	G	19252361	3	3	121	1	0	0	0	0	1	0	0	0	4873	14	1	3	1540	3	E2F8	11	19252361	Missense_Mutation	SNP	A	TCGA-AB-2929-03A-01W-0732-08	1207895	19252361	115754155	10	1395											
OR8B12	219858	genome.wustl.edu	37	11	124412936	124412936	+	Silent	SNP	G	G	A			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr11:124412936G>A	ENST00000306842.2	-	1	639	c.615C>T	c.(613-615)gaC>gaT	p.D205D		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GCATTCCAACGTCAACAGCCA	0.448																																						dbGAP											0			11											98	76	83					11																	124412936		2201	4299	6500	123918146	SO:0001819	synonymous_variant	0				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.615C>T	11.37:g.124412936G>A		68	0	0					123918146	133	22.09	38	B2RNF6|Q6IEW8|Q96RC7	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.D205	ENST00000306842.2	37	c.615	CCDS31711.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.448	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	protein_coding	OTTHUMT00000387061.1	G			123918146	-1	no_errors	NM_001005195.1	genbank	human	provisional	54_36p	silent	SNP	0.006	A	A	124412936	G	A	124412936	2	1	121	1	0	0	0	0	0	0	0	1	11226	1136	40	1		1	OR8B12	11	124412936	Silent	SNP	G	TCGA-AB-2929-03A-01W-0732-08	105160575	124412936	10593580	11	1396											
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91	81	85					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	22	8	2		0	100	18	25289551	16	69.81	37	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25289551	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25398284	C	T	25398284	3	4	121	1	0	0	0	0	1	0	0	0	8438	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-AB-2929-03A-01W-0732-08		25398284	108453611	12	1397											
ALDH1A3	220	genome.wustl.edu	37	15	101427864	101427864	+	Missense_Mutation	SNP	C	C	T	rs199537142		TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr15:101427864C>T	ENST00000329841.5	+	3	824	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.R98W|ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	98					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	GAGTCGTGGGCGGCTGCTGCA	0.682																																						dbGAP											0			15						C	TRP/ARG	0,4406		0,0,2203	50	54	53		292	1.2	0.9	15		53	1,8597	1.2+/-3.3	0,1,4298	yes	missense	ALDH1A3	NM_000693.2	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	98/513	101427864	1,13003	2203	4299	6502	99245387	SO:0001583	missense	0			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"Aldehyde dehydrogenases"	409	protein-coding gene	gene with protein product	"retinaldehyde dehydrogenase 3"	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.292C>T	15.37:g.101427864C>T	ENSP00000332256:p.Arg98Trp	14	0	0					99245387	24	41.86	18	Q6NT64	Missense_Mutation	SNP	HMMPfam_Aldedh,PatternScan_ALDEHYDE_DEHYDR_CYS,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_Aldehyde_DH/Histidinol_DH	p.R98W	ENST00000329841.5	37	c.292	CCDS10389.1	15	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508901	0.44660	0.0	1.16E-4	ENSG00000184254	ENST00000329841;ENST00000415812;ENST00000346623	T;T	0.78246	-1.16;2.29	5.66	1.16	0.20824	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.334108	0.31312	N	0.007878	T	0.80144	0.4569	H	0.94582	3.555	0.20307	N	0.999914	B;B;B	0.25312	0.019;0.123;0.123	B;B;B	0.08055	0.001;0.003;0.002	T	0.74612	-0.3607	10	0.59425	D	0.04	.	9.6022	0.39612	0.4172:0.5103:0.0:0.0725	.	109;98;98	Q7Z3A2;B2R5T2;P47895	.;.;AL1A3_HUMAN	W	98;98;109	ENSP00000332256:R98W;ENSP00000343294:R109W	ENSP00000332256:R98W	R	+	1	2	ALDH1A3	99245387	0.000000	0.05858	0.883000	0.34634	0.826000	0.46750	-0.048000	0.11944	0.712000	0.32039	0.655000	0.94253	CGG	-	HMMPfam_Aldedh,superfamily_Aldehyde_DH/Histidinol_DH		0.682	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	protein_coding	OTTHUMT00000313620.2	C			99245387	1	no_errors	NM_000693.2	genbank	human	reviewed	54_36p	missense	SNP	0.960	T	T	101427864	C	T	101427864	3	4	121	1	0	0	0	0	1	0	0	0	492	759	27	1	302	1	ALDH1A3	15	101427864	Missense_Mutation	SNP	C	TCGA-AB-2929-03A-01W-0732-08		101427864	1103528	13	1398											
CD70	970	genome.wustl.edu	37	19	6586144	6586144	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chr19:6586144G>A	ENST00000245903.3	-	3	618	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	CD70_ENST00000423145.3_Intron	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	157					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protease binding (GO:0002020)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						GGCGTCAGGCGCTGGGAGGCA	0.617																																					Pancreas(183;2617 2876 10173 34193)	dbGAP											0			19											94	78	83					19																	6586144		2203	4300	6503	6537144	SO:0001583	missense	0			L08096	CCDS12170.1	19p13	2013-05-22	2006-10-27	2006-10-27		ENSG00000125726		"Tumor necrosis factor (ligand) superfamily", "CD molecules"	11937	protein-coding gene	gene with protein product		602840	"tumor necrosis factor (ligand) superfamily, member 7"	CD27LG, TNFSF7		8387892, 8120384	Standard	NM_001252		Approved	CD27L	uc002mfi.3	P32970		ENST00000245903.3:c.469C>T	19.37:g.6586144G>A	ENSP00000245903:p.Arg157Cys	83	8.7	8		11	45	9	6537144	151	32.89	74	B4DPR8|Q53XX4|Q96J57	Missense_Mutation	SNP	HMMPfam_TNF,HMMSmart_SM00207,PatternScan_TNF_1,superfamily_TNF-like	p.R157C	ENST00000245903.3	37	c.469	CCDS12170.1	19	.	.	.	.	.	.	.	.	.	.	G	13.98	2.399436	0.42512	.	.	ENSG00000125726	ENST00000245903	T	0.64260	-0.09	4.42	3.29	0.37713	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.138969	0.33712	N	0.004629	T	0.66056	0.2751	L	0.32530	0.975	0.39797	D	0.972516	D	0.89917	1.0	D	0.72075	0.976	T	0.69079	-0.5240	10	0.66056	D	0.02	.	9.7663	0.40563	0.0:0.2111:0.7889:0.0	.	157	P32970	CD70_HUMAN	C	157	ENSP00000245903:R157C	ENSP00000245903:R157C	R	-	1	0	CD70	6537144	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	2.494000	0.45329	2.184000	0.69523	0.556000	0.70494	CGC	-	HMMPfam_TNF,HMMSmart_SM00207,superfamily_TNF-like		0.617	CD70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD70	protein_coding	OTTHUMT00000457860.1	G			6537144	-1	no_errors	NM_001252.3	genbank	human	reviewed	54_36p	missense	SNP	0.958	A	A	6586144	G	A	6586144	3	1	121	1	0	0	0	0	1	0	0	0	3033	1087	38	1	116	1	CD70	19	6586144	Missense_Mutation	SNP	G	TCGA-AB-2929-03A-01W-0732-08		6586144	52542839	14	1399											
SYTL5	94122	genome.wustl.edu	37	X	37935911	37935911	+	Missense_Mutation	SNP	G	G	A	rs370179164		TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chrX:37935911G>A	ENST00000357972.5	+	6	1192	c.646G>A	c.(646-648)Ggt>Agt	p.G216S	SYTL5_ENST00000456733.2_Missense_Mutation_p.G216S|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.G216S			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	216					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GGACTTAGACGGTCAACATTT	0.418																																						dbGAP											0			X						G	SER/GLY,SER/GLY,SER/GLY	0,3833		0,0,1631,571	136	97	110		646,646,646	-2.2	0	X		110	1,6727		0,1,2427,1872	no	missense,missense,missense	SYTL5	NM_138780.2,NM_001163335.1,NM_001163334.1	56,56,56	0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095	benign,benign,benign	216/731,216/731,216/753	37935911	1,10560	2202	4300	6502	37820855	SO:0001583	missense	0				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"exophilin 9"						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.646G>A	X.37:g.37935911G>A	ENSP00000350657:p.Gly216Ser	84	4.55	4					37820855	131	36.84	77	A2RRF2	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMPfam_RPH3A_effector,superfamily_C2_CaLB,superfamily_FYVE_PHD_ZnF	p.G216S	ENST00000357972.5	37	c.646	CCDS14244.1	X	.	.	.	.	.	.	.	.	.	.	G	0.662	-0.805483	0.02819	0.0	1.49E-4	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.18960	2.18;2.18;2.5	4.55	-2.23	0.06930	.	1.606140	0.02799	N	0.123007	T	0.05502	0.0145	N	0.00972	-1.085	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.0;0.001	T	0.35798	-0.9774	10	0.02654	T	1	-6.4804	4.8368	0.13469	0.4589:0.0:0.3913:0.1498	.	216;216	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	S	216	ENSP00000297875:G216S;ENSP00000350657:G216S;ENSP00000395220:G216S	ENSP00000297875:G216S	G	+	1	0	SYTL5	37820855	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.089000	0.15002	-0.139000	0.11414	-0.322000	0.08575	GGT	-	HMMPfam_RPH3A_effector		0.418	SYTL5-201	KNOWN	basic|CCDS	protein_coding	SYTL5	protein_coding	OTTHUMT00000080883.1	G	NM_138780		37820855	1	no_errors	NM_138780.1	genbank	human	provisional	54_36p	missense	SNP	0.109	A	A	37935911	G	A	37935911	3	1	121	1	0	0	0	0	1	0	0	0	15483	1116	39	1	664	1	SYTL5	23	37935911	Missense_Mutation	SNP	G	TCGA-AB-2929-03A-01W-0732-08		37935911	117334649	15	1400											
BRCC3	79184	genome.wustl.edu	37	X	154305490	154305490	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2929-03A-01W-0732-08	TCGA-AB-2929-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3ca5c769-b07c-4a68-818d-ab2bb8141170	0aa884ea-58b7-4079-a204-be6fe7e90a24	g.chrX:154305490C>T	ENST00000369462.1	+	4	266	c.241C>T	c.(241-243)Cga>Tga	p.R81*	BRCC3_ENST00000399042.1_Nonsense_Mutation_p.R81*|BRCC3_ENST00000330045.7_Nonsense_Mutation_p.R81*|MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000369459.2_Nonsense_Mutation_p.R81*|BRCC3_ENST00000340647.4_Nonsense_Mutation_p.R82*	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	81	MPN.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|regulation of catalytic activity (GO:0050790)|response to ionizing radiation (GO:0010212)|response to X-ray (GO:0010165)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|nuclear ubiquitin ligase complex (GO:0000152)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	enzyme regulator activity (GO:0030234)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|polyubiquitin binding (GO:0031593)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R81*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CATCATCTTACGACGTTCTGA	0.428																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	X											115	97	103					X																	154305490		1874	4100	5974	153958684	SO:0001587	stop_gained	0			X64643	CCDS56610.1, CCDS56611.1, CCDS56612.1	Xq28	2013-05-29	2005-11-21	2005-11-21	ENSG00000185515	ENSG00000185515			24185	protein-coding gene	gene with protein product	"Lys-63-specific deubiquitinase"	300617	"chromosome X open reading frame 53"	CXorf53		1303175, 14636569	Standard	NM_024332		Approved	C6.1A, BRCC36	uc004fna.3	P46736	OTTHUMG00000022658	ENST00000369462.1:c.241C>T	X.37:g.154305490C>T	ENSP00000358474:p.Arg81*	96	4.9	5		1	91.67	11	153958684	48	54.95	61	A6QRF8|A6QRF9|A8MUX5|A8MWH0|A9Z1Y0|A9Z1Y5|B1B062|B4DQN7|Q16107|Q53YX5|Q9BTZ6	Nonsense_Mutation	SNP	HMMPfam_Mov34,HMMSmart_SM00232,superfamily_JAB1/MPN domain	p.R81*	ENST00000369462.1	37	c.241	CCDS56611.1	X	.	.	.	.	.	.	.	.	.	.	C	32	5.108171	0.94292	.	.	ENSG00000185515	ENST00000340647;ENST00000330045;ENST00000369459;ENST00000369462;ENST00000411985;ENST00000399042;ENST00000457026;ENST00000399026	.	.	.	5.15	3.27	0.37495	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	-8.9678	11.8326	0.52305	0.3103:0.6897:0.0:0.0	.	.	.	.	X	82;81;81;81;57;81;81;23	.	ENSP00000328641:R81X	R	+	1	2	BRCC3	153958684	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	4.280000	0.58959	1.072000	0.40860	-0.317000	0.08691	CGA	-	HMMPfam_Mov34,HMMSmart_SM00232,superfamily_JAB1/MPN domain		0.428	BRCC3-001	KNOWN	basic|CCDS	protein_coding	BRCC3	protein_coding	OTTHUMT00000058788.4	C	NM_024332		153958684	1	no_errors	NM_024332.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	154305490	C	T	154305490	4	4	121	1	0	0	0	0	0	1	0	0	1500	528	19	1	255	1	BRCC3	23	154305490	Nonsense_Mutation	SNP	C	TCGA-AB-2929-03A-01W-0732-08	116369579	154305490	965070	16	1401											
CYP4A22	284541	genome.wustl.edu	37	1	47614423	47614423	+	Missense_Mutation	SNP	G	G	A	rs375990198		TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr1:47614423G>A	ENST00000371891.3	+	12	1545	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.R407H|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	505						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCCACCTGCGTCTCAGGAGG	0.577													G|||	1	0.000199681	8e-04	0	5008	,	,		19417	0		0	False		,,,				2504	0				Pancreas(88;1240 1470 2099 14214 37557)	dbGAP											0			1											93	82	85					1																	47614423		2203	4299	6502	47387010	SO:0001583	missense	0				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"Cytochrome P450s"	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1514G>A	1.37:g.47614423G>A	ENSP00000360958:p.Arg505His	76	5	4					47387010	36	53.25	41	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.R505H	ENST00000371891.3	37	c.1514	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	0.054	-1.242031	0.01481	.	.	ENSG00000162365	ENST00000371890;ENST00000371891	T;T	0.74526	-0.85;-0.49	1.69	-1.17	0.09648	.	1.801490	0.02402	N	0.080781	T	0.59756	0.2217	L	0.32530	0.975	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48937	-0.8990	10	0.02654	T	1	.	8.12	0.30965	0.875:0.0:0.125:0.0	.	505	Q5TCH4	CP4AM_HUMAN	H	407;505	ENSP00000360957:R407H;ENSP00000360958:R505H	ENSP00000360957:R407H	R	+	2	0	CYP4A22	47387010	0.000000	0.05858	0.122000	0.21767	0.361000	0.29550	-0.116000	0.10724	-0.502000	0.06596	-1.111000	0.02071	CGT	-	HMMPfam_p450,superfamily_Cytochrome P450		0.577	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47387010	1	no_errors	NM_001010969.2	genbank	human	reviewed	54_36p	missense	SNP	0.934	A	A	47614423	G	A	47614423	3	1	122	1	0	0	0	0	1	0	0	0	4184	1145	40	1	1560	1	CYP4A22	1	47614423	Missense_Mutation	SNP	G	TCGA-AB-2930-03A-01W-0761-09		47614423	201636198	1	1402											
ARAP2	116984	genome.wustl.edu	37	4	36149165	36149168	+	Splice_Site	DEL	CTTA	CTTA	-			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	CTTA	CTTA	CTTA	-	CTTA	CTTA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr4:36149165_36149168delCTTA	ENST00000303965.4	-	18	3689		c.e18+1			NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GAAAAAAGCTCTTACTTAGCTCTT	0.377																																						dbGAP											0			4																																								35825563	SO:0001630	splice_region_variant	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"ADP-ribosylation factor GTPase activating proteins", "Sterile alpha motif (SAM) domain containing", "Pleckstrin homology (PH) domain containing", "Ankyrin repeat domain containing"	16924	protein-coding gene	gene with protein product		606645	"centaurin, delta 1"	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3199+1TAAG>-	4.37:g.36149169_36149172delCTTA									35825560				Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Splice_Site	DEL	-	e17+2	ENST00000303965.4	37	c.3199+2_3199+1	CCDS3441.1	4																																																																																			-	-		0.377	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	CTTA	NM_015230	Intron	35825563	-1	no_errors	NM_015230.2	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.990:0.994:0.996:1.000	-	-	36149168	CTTA	-	36149165	8	5	122	1	0	1	0	1	0	0	1	0	839	928	32	0		0	ARAP2	4	36149165	Splice_Site	DEL	CTTA	TCGA-AB-2930-03A-01W-0761-09		36149165	155005111	2	1403											
MAT1A	4143	genome.wustl.edu	37	10	82039990	82039990	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr10:82039990C>T	ENST00000372213.3	-	5	748	c.488G>A	c.(487-489)cGg>cAg	p.R163Q		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	163					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTCTGCCATCCGGGCGTTGAG	0.602																																						dbGAP											0			10											78	84	82					10																	82039990		2203	4300	6503	82029970	SO:0001583	missense	0				CCDS7365.1	10q22	2008-08-01			ENSG00000151224	ENSG00000151224			6903	protein-coding gene	gene with protein product	"S-adenosylmethionine synthetase"	610550				8393662	Standard	XM_005269842		Approved	MAT, SAMS, MATA1, SAMS1	uc001kbw.3	Q00266	OTTHUMG00000018613	ENST00000372213.3:c.488G>A	10.37:g.82039990C>T	ENSP00000361287:p.Arg163Gln	67	9.09	7					82029970	33	62.07	54	D3DWD5|Q5QP09	Missense_Mutation	SNP	HMMPfam_S-AdoMet_synt_N,HMMPfam_S-AdoMet_synt_M,HMMPfam_S-AdoMet_synt_C,PatternScan_ADOMET_SYNTHETASE_1,PatternScan_ADOMET_SYNTHETASE_2,superfamily_S-AdoMet_synt	p.R163Q	ENST00000372213.3	37	c.488	CCDS7365.1	10	.	.	.	.	.	.	.	.	.	.	C	10.44	1.350979	0.24512	.	.	ENSG00000151224	ENST00000372213;ENST00000372206;ENST00000455001	D;D	0.83075	-1.68;-1.68	4.91	2.02	0.26589	S-adenosylmethionine synthetase, central domain (1);S-adenosylmethionine synthetase superfamily (1);	0.230050	0.44097	N	0.000495	T	0.74359	0.3706	L	0.50919	1.6	0.43632	D	0.996021	B	0.27765	0.188	B	0.21360	0.034	T	0.66712	-0.5854	10	0.51188	T	0.08	-16.0172	7.6639	0.28419	0.0:0.6518:0.0:0.3482	.	163	Q00266	METK1_HUMAN	Q	163;163;100	ENSP00000361287:R163Q;ENSP00000414961:R100Q	ENSP00000361280:R163Q	R	-	2	0	MAT1A	82029970	0.998000	0.40836	0.892000	0.35008	0.012000	0.07955	1.173000	0.31920	0.220000	0.20860	-0.749000	0.03505	CGG	-	HMMPfam_S-AdoMet_synt_M,superfamily_S-AdoMet_synt		0.602	MAT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT1A	protein_coding	OTTHUMT00000049070.1	C	NM_000429		82029970	-1	no_errors	NM_000429.2	genbank	human	reviewed	54_36p	missense	SNP	0.977	T	T	82039990	C	T	82039990	3	4	122	1	0	0	0	0	1	0	0	0	9329	652	23	1	719	1	MAT1A	10	82039990	Missense_Mutation	SNP	C	TCGA-AB-2930-03A-01W-0761-09		82039990	53494757	3	1404											
WT1	7490	genome.wustl.edu	37	11	32417941	32417942	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr11:32417941_32417942insA	ENST00000379079.2	-	7	747_748	c.474_475insT	c.(472-477)cgtgtgfs	p.V159fs	WT1_ENST00000332351.3_Frame_Shift_Ins_p.V371fs|WT1_ENST00000530998.1_Frame_Shift_Ins_p.V142fs|WT1_ENST00000448076.3_Frame_Shift_Ins_p.V371fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	303					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V303fs*14(8)|p.V303fs*5(3)|p.V303fs*1(3)|p.V303fs*15(2)|p.R301fs*3(1)|p.V303fs*7(1)|p.R301fs*6(1)|p.?(1)|p.R302fs*7(1)|p.V300fs*6(1)|p.?fs(1)|p.R301fs*73(1)|p.V303fs*16(1)|p.R302fs*12(1)|p.R302fs*16(1)|p.R302fs*17(1)|p.R302fs*14(1)|p.V303fs*23(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACTCCAGGCACACGTCGCACAT	0.51			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	30	Insertion - Frameshift(19)|Complex - frameshift(8)|Deletion - Frameshift(2)|Unknown(1)	haematopoietic_and_lymphoid_tissue(30)	11																																								32374518	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.475dupT	11.37:g.32417942_32417942dupA	ENSP00000368370:p.Val159fs	27	3.57	1		1	90	9	32374517	7	53.33	8	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.V370fs	ENST00000379079.2	37	c.1111_1110	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.51	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374518	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:0.986	A	A	32417942	-	A	32417941	7	5	122	1	0	1	1	0	0	0	0	0	17405	478	17	0	458	0	WT1	11	32417941	Frame_Shift_Ins	INS	-	TCGA-AB-2930-03A-01W-0761-09		32417941	102588575	4	1405											
PC	5091	genome.wustl.edu	37	11	66638943	66638943	+	Silent	SNP	G	G	A			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr11:66638943G>A	ENST00000393958.2	-	5	423	c.330C>T	c.(328-330)aaC>aaT	p.N110N	PC_ENST00000524491.1_Silent_p.N70N|PC_ENST00000393955.2_Silent_p.N110N|PC_ENST00000393960.1_Silent_p.N110N|PC_ENST00000355677.3_Silent_p.N110N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	110	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTGCATCTACGTTGTTCTCCT	0.632																																						dbGAP											0			11											73	78	77					11																	66638943		2200	4295	6495	66395519	SO:0001819	synonymous_variant	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.330C>T	11.37:g.66638943G>A		20	4.76	1		0	100	2	66395519	4	60	6	B4DN00|Q16705	Silent	SNP	HMMPfam_Biotin_lipoyl,HMMPfam_HMGL-like,PatternScan_BIOTIN,HMMPfam_PYC_OADA,HMMPfam_CPSase_L_D2,HMMPfam_CPSase_L_chain,HMMPfam_Biotin_carb_C,superfamily_Hybrid_motif,superfamily_Rudmnt_hyb_motif,superfamily_PreATP-grasp-like,superfamily_SSF51569,superfamily_SSF56059,superfamily_SSF89000	p.N110	ENST00000393958.2	37	c.330	CCDS8152.1	11																																																																																			-	HMMPfam_CPSase_L_chain,superfamily_PreATP-grasp-like		0.632	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	protein_coding	OTTHUMT00000393115.1	G	NM_001040716		66395519	-1	no_errors	NM_000920.3	genbank	human	reviewed	54_36p	silent	SNP	0.244	A	A	66638943	G	A	66638943	2	1	122	1	0	0	0	0	0	0	0	1	11497	1136	40	1		1	PC	11	66638943	Silent	SNP	G	TCGA-AB-2930-03A-01W-0761-09	34221002	66638943	68367573	5	1406											
KCNA5	3741	genome.wustl.edu	37	12	5154834	5154834	+	Silent	SNP	C	C	A			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr12:5154834C>A	ENST00000252321.3	+	1	1750	c.1521C>A	c.(1519-1521)acC>acA	p.T507T		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	507					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GGGTCCTCACCATTGCCCTGC	0.607																																						dbGAP											0			12											104	95	98					12																	5154834		2203	4300	6503	5025095	SO:0001819	synonymous_variant	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.1521C>A	12.37:g.5154834C>A		31	6.06	2		1	66.67	2	5025095	22	45	18	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Silent	SNP	HMMSmart_SM00225,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_POZ domain,superfamily_Voltage-gated potassium channels	p.T507	ENST00000252321.3	37	c.1521	CCDS8536.1	12																																																																																			-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.607	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	protein_coding	OTTHUMT00000398925.2	C	NM_002234		5025095	1	no_errors	NM_002234.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	5154834	C	A	5154834	2	1	122	1	0	0	0	0	0	0	0	1	8006	581	21	4		4	KCNA5	12	5154834	Silent	SNP	C	TCGA-AB-2930-03A-01W-0761-09		5154834	128697061	6	1407											
FLT3	2322	genome.wustl.edu	37	13	28608273	28608274	+	In_Frame_Ins	INS	-	-	GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	-	-	-	GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr13:28608273_28608274insGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	ENST00000241453.7	-	14	1863_1864	c.1782_1783insGGTACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTC	c.(1780-1785)ttcaga>ttcGGTACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCaga	p.593_594insFGTGSSDNEYFYVD	FLT3_ENST00000537084.1_In_Frame_Ins_p.593_594insFGTGSSDNEYFYVD|FLT3_ENST00000380982.4_In_Frame_Ins_p.593_594insFGTGSSDNEYFYVD	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	593	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F594_R595insSDNEYFYVDF(2)|p.F594_R595ins12(2)|p.F590_F594>L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTCTCTGAAATCAACGT	0.381			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Insertion - In frame(4)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506274	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1782_1783insGGTACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTC	13.37:g.28608273_28608274insGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	ENSP00000241453:p.Asp593_Phe594insPheGlyThrGlySerSerAspAsnGluTyrPheTyrValAsp								27506273				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.594in_frame_insGTGSSDNEYFYVDF	ENST00000241453.7	37	c.1783_1782	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506274	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	28608274	-	GAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTACC	28608273	7	5	122	1	0	1	1	0	0	0	0	0	5942	1588	55	0	1242	0	FLT3	13	28608273	In_Frame_Ins	INS	-	TCGA-AB-2930-03A-01W-0761-09		28608273	86561605	7	1408											
ZSCAN5A	79149	genome.wustl.edu	37	19	56734093	56734093	+	Silent	SNP	T	T	C			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chr19:56734093T>C	ENST00000587340.1	-	6	1301	c.606A>G	c.(604-606)ctA>ctG	p.L202L	ZSCAN5A_ENST00000391713.1_Silent_p.L202L|ZSCAN5A_ENST00000592355.1_Silent_p.L202L|ZSCAN5A_ENST00000587492.1_Silent_p.L56L|ZSCAN5A_ENST00000254165.3_Silent_p.L85L			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	202					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L202L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACTCTTGTGTAGCAGAAAGT	0.488																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)	19											150	127	134					19																	56734093		2203	4300	6503	61425905	SO:0001819	synonymous_variant	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"-", "Zinc fingers, C2H2-type"	23710	protein-coding gene	gene with protein product			"zinc finger protein 495", "zinc finger and SCAN domain containing 5"	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.606A>G	19.37:g.56734093T>C		68	8.11	6		6	50	6	61425905	56	50	56	B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.L202	ENST00000587340.1	37	c.606	CCDS12941.1	19																																																																																			-	NULL		0.488	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	protein_coding	OTTHUMT00000458110.1	T	NM_024303		61425905	-1	no_errors	NM_024303.1	genbank	human	provisional	54_36p	silent	SNP	0.014	C	C	56734093	T	C	56734093	2	2	122	1	0	0	0	0	0	0	0	1	18235	1625	57	3		3	ZSCAN5A	19	56734093	Silent	SNP	T	TCGA-AB-2930-03A-01W-0761-09		56734093	2394890	8	1409											
TRO	7216	genome.wustl.edu	37	X	54956611	54956611	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2930-03A-01W-0761-09	TCGA-AB-2930-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0f30992e-555b-429e-89d5-7a7edc5934d7	4ab787f8-8273-4436-82d6-0c3a3c805bde	g.chrX:54956611G>A	ENST00000173898.7	+	12	3566	c.3454G>A	c.(3454-3456)Gct>Act	p.A1152T	TRO_ENST00000420798.2_Missense_Mutation_p.A683T|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375041.2_Missense_Mutation_p.A755T	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1152	62 X 10 AA approximate tandem repeats.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTTTGGTGGAGCTCCCAGCAC	0.567																																						dbGAP											0			X											61	61	61					X																	54956611		2003	4160	6163	54973336	SO:0001583	missense	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.3454G>A	X.37:g.54956611G>A	ENSP00000173898:p.Ala1152Thr	34	5.56	2		0	100	3	54973336	47	37.33	28	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	HMMPfam_MAGE	p.A1152T	ENST00000173898.7	37	c.3454	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	18.29	3.590322	0.66105	.	.	ENSG00000067445	ENST00000173898;ENST00000420798;ENST00000375041	T;T;T	0.14144	2.53;2.53;2.53	2.88	0.963	0.19649	.	.	.	.	.	T	0.20981	0.0505	L	0.54323	1.7	0.09310	N	1	D;D	0.61697	0.99;0.99	P;P	0.61477	0.852;0.889	T	0.13737	-1.0498	9	0.41790	T	0.15	.	1.2184	0.01918	0.1395:0.2234:0.4046:0.2326	.	755;1152	B1AKE9;Q12816	.;TROP_HUMAN	T	1152;683;755	ENSP00000173898:A1152T;ENSP00000405126:A683T;ENSP00000364181:A755T	ENSP00000173898:A1152T	A	+	1	0	TRO	54973336	0.000000	0.05858	0.000000	0.03702	0.982000	0.71751	-0.256000	0.08757	0.121000	0.18284	0.553000	0.69018	GCT	-	NULL		0.567	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	protein_coding	OTTHUMT00000056837.3	G	NM_016157		54973336	1	no_errors	NM_001039705.1	genbank	human	reviewed	54_36p	missense	SNP	0.002	A	A	54956611	G	A	54956611	3	1	122	1	0	0	0	0	1	0	0	0	16571	971	34	2	3496	2	TRO	23	54956611	Missense_Mutation	SNP	G	TCGA-AB-2930-03A-01W-0761-09		54956611	100313949	9	1410											
HSPB7	27129	genome.wustl.edu	37	1	16342130	16342130	+	Missense_Mutation	SNP	C	C	T	rs373135452		TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr1:16342130C>T	ENST00000311890.9	-	3	1284	c.458G>A	c.(457-459)cGt>cAt	p.R153H	HSPB7_ENST00000406363.2_Missense_Mutation_p.R157H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R148H|HSPB7_ENST00000375718.4_Missense_Mutation_p.R228H|HSPB7_ENST00000487046.1_Missense_Mutation_p.R158H	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	153					regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		ATGCGGGTGACGCCGTGCCCG	0.652																																						dbGAP											0			1						C	HIS/ARG	0,4406		0,0,2203	109	87	94		458	5	0.4	1		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPB7	NM_014424.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	153/171	16342130	1,13005	2203	4300	6503	16214717	SO:0001583	missense	0			AF155908	CCDS30611.1	1p36.23-p34.3	2011-09-02	2002-08-29		ENSG00000173641	ENSG00000173641		"Heat shock proteins / HSPB"	5249	protein-coding gene	gene with protein product		610692	"heat shock 27kD protein family, member 7 (cardiovascular)"			10593960	Standard	NM_014424		Approved	cvHSP	uc001axo.2	Q9UBY9	OTTHUMG00000009531	ENST00000311890.9:c.458G>A	1.37:g.16342130C>T	ENSP00000310111:p.Arg153His	124	3.12	4					16214717	20	62.96	34	B3KQ37|C9K0Y0|Q9NU17	Missense_Mutation	SNP	HMMPfam_HSP20,superfamily_HSP20-like chaperones	p.R153H	ENST00000311890.9	37	c.458	CCDS30611.1	1	.	.	.	.	.	.	.	.	.	.	C	31	5.071476	0.93950	0.0	1.16E-4	ENSG00000173641	ENST00000411503;ENST00000311890;ENST00000375718;ENST00000375714;ENST00000463576;ENST00000487046;ENST00000406363	D;D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0;-3.0	4.97	4.97	0.65823	Heat shock protein Hsp20 (2);HSP20-like chaperone (1);	0.000000	0.64402	D	0.000001	D	0.96685	0.8918	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.79108	0.989;0.992;0.988;0.991;0.984	D	0.97527	1.0077	10	0.87932	D	0	-14.849	14.9547	0.71104	0.0:1.0:0.0:0.0	.	228;174;174;241;153	Q8N241;Q7Z3C1;Q5T5Q1;Q5T5Q2;Q9UBY9	.;.;.;.;HSPB7_HUMAN	H	148;153;228;246;107;158;157	ENSP00000391578:R148H;ENSP00000310111:R153H;ENSP00000364870:R228H;ENSP00000417966:R107H;ENSP00000419477:R158H;ENSP00000385472:R157H	ENSP00000310111:R153H	R	-	2	0	HSPB7	16214717	0.997000	0.39634	0.370000	0.25965	0.847000	0.48162	5.640000	0.67875	2.296000	0.77279	0.561000	0.74099	CGT	-	HMMPfam_HSP20,superfamily_HSP20-like chaperones		0.652	HSPB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HSPB7	protein_coding	OTTHUMT00000026334.2	C	NM_014424		16214717	-1	no_errors	NM_014424.4	genbank	human	validated	54_36p	missense	SNP	0.906	T	T	16342130	C	T	16342130	3	4	123	1	0	0	0	0	1	0	0	0	7422	536	19	1	58	1	HSPB7	1	16342130	Missense_Mutation	SNP	C	TCGA-AB-2931-03A-01W-0745-08		16342130	232908491	1	1411											
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55	50	52		2644,2077,2644	5.7	1	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	106	3.64	4		41	54.95	50	25310747	23	46.51	20	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25457243	G	A	25457243	3	1	123	1	0	0	0	0	1	0	0	0	4676	1116	39	1	98	1	DNMT3A	2	25457243	Missense_Mutation	SNP	G	TCGA-AB-2931-03A-01W-0745-08		25457243	217742130	2	1412											
ACTBL2	345651	genome.wustl.edu	37	5	56777739	56777739	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr5:56777739A>G	ENST00000423391.1	-	1	897	c.796T>C	c.(796-798)Tcc>Ccc	p.S266P	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	266						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCCAGAAAGGAAGGCTGGAAA	0.512																																						dbGAP											0			5											91	85	87					5																	56777739		2203	4300	6503	56813496	SO:0001583	missense	0				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.796T>C	5.37:g.56777739A>G	ENSP00000416706:p.Ser266Pro	150	1.96	3					56813496	65	49.22	63	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_1,PatternScan_ACTINS_2,superfamily_Actin-like ATPase domain	p.S266P	ENST00000423391.1	37	c.796	CCDS34163.1	5	.	.	.	.	.	.	.	.	.	.	A	11.33	1.605822	0.28623	.	.	ENSG00000169067	ENST00000423391	T	0.10192	2.9	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000007	T	0.42426	0.1202	H	0.95151	3.63	0.53005	D	0.999965	P	0.39759	0.687	P	0.57371	0.819	T	0.51896	-0.8647	10	0.87932	D	0	.	12.5346	0.56135	1.0:0.0:0.0:0.0	.	266	Q562R1	ACTBL_HUMAN	P	266	ENSP00000416706:S266P	ENSP00000416706:S266P	S	-	1	0	ACTBL2	56813496	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.279000	0.78599	2.057000	0.61298	0.533000	0.62120	TCC	-	HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain		0.512	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	protein_coding	OTTHUMT00000368579.1	A	NM_001017992		56813496	-1	no_errors	NM_001017992.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	56777739	A	G	56777739	3	3	123	1	0	0	0	0	1	0	0	0	194	246	9	3	338	3	ACTBL2	5	56777739	Missense_Mutation	SNP	A	TCGA-AB-2931-03A-01W-0745-08		56777739	124137521	3	1413											
SYNE1	23345	genome.wustl.edu	37	6	152738068	152738068	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr6:152738068C>T	ENST00000367255.5	-	41	6105	c.5504G>A	c.(5503-5505)cGt>cAt	p.R1835H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R1842H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1842H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1872H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1835H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1835					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCCTCAGCACGGCCCAGAGA	0.587										HNSCC(10;0.0054)																												dbGAP											0			6											104	104	104					6																	152738068		2203	4300	6503	152779761	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"myocyte nuclear envelope protein 1", "nuclear envelope spectrin repeat-1"	608441	"chromosome 6 open reading frame 98"	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5504G>A	6.37:g.152738068C>T	ENSP00000356224:p.Arg1835His	303	2.88	9		1	0	0	152779761	119	49.15	115	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_Spectrin,HMMPfam_KASH,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat	p.R1835H	ENST00000367255.5	37	c.5504	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658074	0.29425	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	6.16	3.42	0.39159	.	0.403903	0.21599	N	0.071977	T	0.14960	0.0361	L	0.44542	1.39	0.24767	N	0.992892	B;P;P;P	0.41710	0.004;0.76;0.76;0.715	B;B;B;B	0.38616	0.003;0.124;0.124;0.277	T	0.02668	-1.1126	10	0.49607	T	0.09	.	11.5688	0.50822	0.0:0.8068:0.0:0.1932	.	1818;1835;1835;1842	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	1835;1842;1835;1842;1872	ENSP00000356224:R1835H;ENSP00000396024:R1842H;ENSP00000265368:R1835H;ENSP00000390975:R1842H;ENSP00000341887:R1872H	ENSP00000265368:R1835H	R	-	2	0	SYNE1	152779761	0.000000	0.05858	0.030000	0.17652	0.857000	0.48899	0.098000	0.15189	0.469000	0.27268	0.650000	0.86243	CGT	-	superfamily_Spectrin repeat		0.587	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152779761	-1	no_errors	NM_182961.2	genbank	human	reviewed	54_36p	missense	SNP	0.024	T	T	152738068	C	T	152738068	3	4	123	1	0	0	0	0	1	0	0	0	15442	536	19	1	21386	1	SYNE1	6	152738068	Missense_Mutation	SNP	C	TCGA-AB-2931-03A-01W-0745-08		152738068	18376999	4	1414											
NRCAM	4897	genome.wustl.edu	37	7	107831727	107831727	+	Splice_Site	SNP	G	G	A			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr7:107831727G>A	ENST00000425651.2	-	16	1903	c.1904C>T	c.(1903-1905)gCt>gTt	p.A635V	NRCAM_ENST00000413765.2_Splice_Site_p.A616V|NRCAM_ENST00000379024.4_Splice_Site_p.A616V|NRCAM_ENST00000379022.4_Splice_Site_p.A635V|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000379028.3_Splice_Site_p.A635V	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	635					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TGGAGTAGGAGCTAGAAAGGA	0.323																																						dbGAP											0			7											56	58	58					7																	107831727		1822	4078	5900	107618963	SO:0001630	splice_region_variant	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	7994	protein-coding gene	gene with protein product	"NgCAM-related cell adhesion molecule"	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.1904-1C>T	7.37:g.107831727G>A		63	3.08	2					107618963	53	36.9	31	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	PatternScan_IG_MHC,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.A635V	ENST00000425651.2	37	c.1904	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369031	0.61624	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000379024;ENST00000425651;ENST00000379022	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.87	5.87	0.94306	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.217705	0.40222	N	0.001156	T	0.69726	0.3143	L	0.28274	0.84	0.44469	D	0.997405	B;B;B;B	0.17038	0.017;0.02;0.003;0.003	B;B;B;B	0.25405	0.06;0.028;0.011;0.007	T	0.65932	-0.6048	10	0.72032	D	0.01	.	15.3178	0.74095	0.0:0.0:0.8602:0.1398	.	635;616;616;635	Q92823-5;Q92823-3;E9PDA4;Q92823	.;.;.;NRCAM_HUMAN	V	635;635;616;635;616;635;635	ENSP00000368314:A635V;ENSP00000407858:A616V;ENSP00000368310:A616V;ENSP00000401244:A635V;ENSP00000368308:A635V	ENSP00000368308:A635V	A	-	2	0	NRCAM	107618963	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.320000	0.43797	2.941000	0.99782	0.655000	0.94253	GCT	-	superfamily_Immunoglobulin		0.323	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	protein_coding	OTTHUMT00000337942.2	G	NM_001037132	Missense_Mutation	107618963	-1	no_errors	NM_001037132.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	107831727	G	A	107831727	5	1	123	1	0	0	0	0	0	0	1	0	10644	985	34	2	2100	2	NRCAM	7	107831727	Splice_Site	SNP	G	TCGA-AB-2931-03A-01W-0745-08		107831727	51306936	5	1415											
GSTK1	373156	genome.wustl.edu	37	7	142960620	142960620	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr7:142960620C>T	ENST00000358406.5	+	1	85	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000494735.1_3'UTR|GSTK1_ENST00000443571.2_Missense_Mutation_p.P5L|GSTK1_ENST00000479303.1_Missense_Mutation_p.P5L|GSTK1_ENST00000409500.3_Missense_Mutation_p.P5L	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	5					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)	p.P5Q(2)		lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	GGGCCCCTGCCGCGCACCGTG	0.677																																						dbGAP											2	Substitution - Missense(2)	lung(2)	7											50	54	53					7																	142960620		2203	4300	6503	142670742	SO:0001583	missense	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.14C>T	7.37:g.142960620C>T	ENSP00000351181:p.Pro5Leu	69	0	0		115	50.21	117	142670742	30	58.9	43	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	HMMPfam_DSBA,superfamily_Thioredoxin-like	p.P5L	ENST00000358406.5	37	c.14	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865764	0.51588	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.49	4.62	0.57501	Thioredoxin-like fold (1);	0.281782	0.36628	N	0.002492	T	0.41119	0.1145	L	0.58669	1.825	0.27073	N	0.963267	B;B;B;B	0.31040	0.218;0.07;0.305;0.001	B;B;B;B	0.21546	0.035;0.016;0.033;0.001	T	0.35525	-0.9785	9	0.40728	T	0.16	-15.7146	11.14	0.48398	0.0:0.9135:0.0:0.0865	.	5;5;5;5	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	L	5	.	ENSP00000351181:P5L	P	+	2	0	GSTK1	142670742	0.813000	0.29090	0.341000	0.25589	0.208000	0.24298	1.444000	0.35068	1.302000	0.44855	-0.306000	0.09157	CCG	-	superfamily_Thioredoxin-like		0.677	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	protein_coding	OTTHUMT00000327091.1	C	NM_015917		142670742	1	no_errors	NM_015917.1	genbank	human	reviewed	54_36p	missense	SNP	0.419	T	T	142960620	C	T	142960620	3	4	123	1	0	0	0	0	1	0	0	0	6836	652	23	1	16	1	GSTK1	7	142960620	Missense_Mutation	SNP	C	TCGA-AB-2931-03A-01W-0745-08	35128893	142960620	16178043	6	1416											
COL22A1	169044	genome.wustl.edu	37	8	139697551	139697551	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr8:139697551G>A	ENST00000303045.6	-	38	3313	c.2867C>T	c.(2866-2868)gCa>gTa	p.A956V	COL22A1_ENST00000435777.1_Missense_Mutation_p.A956V|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	956	Collagen-like 8.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTCCCCCGCTGCACCCTGGAA	0.582										HNSCC(7;0.00092)																												dbGAP											0			8											28	29	29					8																	139697551		2203	4300	6503	139766733	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"Collagens"	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2867C>T	8.37:g.139697551G>A	ENSP00000303153:p.Ala956Val	48	0	0					139766733	29	12.12	4	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like	p.A956V	ENST00000303045.6	37	c.2867	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	5.890	0.348353	0.11126	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93488	-3.23;-3.23	4.77	3.82	0.43975	.	0.774115	0.10891	U	0.622720	D	0.88731	0.6516	L	0.37697	1.125	0.09310	N	1	B;B	0.23650	0.03;0.089	B;B	0.25614	0.037;0.062	T	0.77768	-0.2464	10	0.29301	T	0.29	.	9.2702	0.37666	0.0:0.0:0.7691:0.2309	.	956;956	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	V	956;956;669	ENSP00000303153:A956V;ENSP00000387655:A956V	ENSP00000303153:A956V	A	-	2	0	COL22A1	139766733	0.001000	0.12720	0.040000	0.18447	0.001000	0.01503	0.838000	0.27572	2.481000	0.83766	0.448000	0.29417	GCA	-	HMMPfam_Collagen		0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	protein_coding	OTTHUMT00000315905.2	G	XM_291257		139766733	-1	no_errors	NM_152888.1	genbank	human	validated	54_36p	missense	SNP	0.108	A	A	139697551	G	A	139697551	3	1	123	1	0	0	0	0	1	0	0	0	3681	1319	46	2	2125	2	COL22A1	8	139697551	Missense_Mutation	SNP	G	TCGA-AB-2931-03A-01W-0745-08		139697551	6666471	7	1417											
FLT3	2322	genome.wustl.edu	37	13	28608219	28608220	+	Splice_Site	INS	-	-	AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	-	-	-	AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr13:28608219_28608220insAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG	ENST00000241453.7	-	14	1917_1918	c.1836_1837insCAGGGCTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTT	c.(1834-1839)tttggg>tttCAGGGCTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTTggg	p.611_612insFQGFYVDFREYEYDLKWEFPRENLE	FLT3_ENST00000380982.4_Splice_Site_p.611_612insFQGFYVDFREYEYDLKWEFPRENLE|FLT3_ENST00000537084.1_Splice_Site_p.611_612insFQGFYVDFREYEYDLKWEFPRENLE	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	611	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F612_G613ins20(1)|p.612_613>QVTGSSDNEYFYVDFREYEYDLKWEFPRENLEL(1)|p.F612_G613ins16(1)|p.F612_G613ins17(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATTCTTACCAAACTCTAAAT	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	4	Insertion - In frame(3)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(4)	13																																								27506220	SO:0001630	splice_region_variant	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1837+1->CAGGGCTTCTACGTTGATTTCAGAGAATATGAATATGATCTCAAATGGGAGTTTCCAAGAGAAAATTTAGAGTTT	13.37:g.28608219_28608220insAAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG									27506219				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.612in_frame_insQGFYVDFREYEYDLKWEFPRENLEF	ENST00000241453.7	37	c.1837_1836	CCDS31953.1	13																																																																																			-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-		In_Frame_Ins	27506220	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG	AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG	28608220	-	AAACTCTAAATTTTCTCTTGGAAACTCCCATTTGAGATCATATTCATATTCTCTGAAATCAACGTAGAAGCCCTG	28608219	8	5	123	1	0	1	1	0	0	0	1	0	5942	608	21	0	1188	0	FLT3	13	28608219	Splice_Site	INS	-	TCGA-AB-2931-03A-01W-0745-08		28608219	86561659	8	1418											
C3	718	genome.wustl.edu	37	19	6707203	6707203	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr19:6707203C>T	ENST00000245907.6	-	17	2221	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	710	Anaphylatoxin-like. {ECO:0000255|PROSITE- ProRule:PRU00022}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GAAACGGGTCCGGCGCTGGCA	0.657																																						dbGAP											0			19											41	38	39					19																	6707203		2201	4295	6496	6658203	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"Complement system", "Endogenous ligands"	1318	protein-coding gene	gene with protein product	"C3a anaphylatoxin", "complement component C3a", "complement component C3b", "prepro-C3"	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2129G>A	19.37:g.6707203C>T	ENSP00000245907:p.Arg710Gln	88	2.22	2					6658203	21	47.5	19	A7E236	Missense_Mutation	SNP	HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,HMMPfam_A2M,HMMPfam_A2M_N,superfamily_Terpenoid cyclases/Protein prenyltransferases,superfamily_TIMP-like,HMMPfam_A2M_recep,superfamily_Alpha-macroglobulin receptor domain,HMMPfam_A2M_N_2,HMMPfam_A2M_comp,superfamily_Anaphylotoxins (complement system),HMMPfam_NTR,HMMSmart_SM00643,HMMPfam_Thiol-ester_cl,PatternScan_ALPHA_2_MACROGLOBULIN	p.R710Q	ENST00000245907.6	37	c.2129	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864649	0.91511	.	.	ENSG00000125730	ENST00000245907	T	0.39229	1.09	4.85	4.85	0.62838	Complement C3a/C4a/C5a anaphylatoxin (1);Anaphylatoxin (2);Anaphylatoxin/fibulin (4);	0.000000	0.85682	D	0.000000	T	0.73442	0.3587	M	0.94063	3.49	0.39136	D	0.961944	D	0.89917	1.0	D	0.87578	0.998	T	0.82719	-0.0318	10	0.62326	D	0.03	.	16.7222	0.85413	0.0:1.0:0.0:0.0	.	710	P01024	CO3_HUMAN	Q	710	ENSP00000245907:R710Q	ENSP00000245907:R710Q	R	-	2	0	C3	6658203	0.816000	0.29132	0.014000	0.15608	0.020000	0.10135	7.133000	0.77259	2.244000	0.73946	0.591000	0.81541	CGG	-	HMMPfam_ANATO,HMMSmart_SM00104,PatternScan_ANAPHYLATOXIN_1,superfamily_Anaphylotoxins (complement system)		0.657	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6658203	-1	no_errors	NM_000064.2	genbank	human	reviewed	54_36p	missense	SNP	0.942	T	T	6707203	C	T	6707203	3	4	123	1	0	0	0	0	1	0	0	0	2204	652	23	1	2962	1	C3	19	6707203	Missense_Mutation	SNP	C	TCGA-AB-2931-03A-01W-0745-08		6707203	52421780	9	1419											
NLRP11	204801	genome.wustl.edu	37	19	56321374	56321374	+	Missense_Mutation	SNP	T	T	G	rs368342871		TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr19:56321374T>G	ENST00000589093.1	-	3	695	c.602A>C	c.(601-603)gAg>gCg	p.E201A	NLRP11_ENST00000592953.1_Missense_Mutation_p.E102A|NLRP11_ENST00000589824.2_Missense_Mutation_p.E201A|NLRP11_ENST00000360133.3_Missense_Mutation_p.E201A|NLRP11_ENST00000443188.1_Missense_Mutation_p.E201A			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	201	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGCGATTAGCTCAGCCAAGCT	0.512																																						dbGAP											0			19											104	95	98					19																	56321374		2203	4300	6503	61013186	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"Nucleotide-binding domain and leucine rich repeat containing"	22945	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"	609664	"NACHT, leucine rich repeat and PYD containing 11"	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.602A>C	19.37:g.56321374T>G	ENSP00000466285:p.Glu201Ala	167	7.73	14					61013186	74	43.08	56	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	PatternScan_CU2_MONOOXYGENASE_1,HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like	p.E201A	ENST00000589093.1	37	c.602	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	T	11.46	1.644105	0.29246	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.79554	-1.28;-1.28	2.48	1.3	0.21679	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.81559	0.4848	L	0.55481	1.735	0.09310	N	1	P;P	0.49696	0.927;0.845	P;P	0.54706	0.759;0.646	T	0.69705	-0.5073	9	0.59425	D	0.04	.	7.1777	0.25755	0.0:0.0:0.2863:0.7137	.	201;201	P59045;P59045-2	NAL11_HUMAN;.	A	201	ENSP00000409898:E201A;ENSP00000353251:E201A	ENSP00000353251:E201A	E	-	2	0	NLRP11	61013186	0.021000	0.18746	0.027000	0.17364	0.038000	0.13279	0.764000	0.26532	0.264000	0.21851	0.496000	0.49642	GAG	-	HMMPfam_NACHT		0.512	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	protein_coding	OTTHUMT00000453657.1	T	NM_145007		61013186	-1	no_errors	NM_145007.3	genbank	human	validated	54_36p	missense	SNP	0.072	G	G	56321374	T	G	56321374	3	3	123	1	0	0	0	0	1	0	0	0	10473	1551	54	5	2531	5	NLRP11	19	56321374	Missense_Mutation	SNP	T	TCGA-AB-2931-03A-01W-0745-08	49614171	56321374	2807609	10	1420											
KRTAP10-7	386675	genome.wustl.edu	37	21	46020572	46020572	+	Silent	SNP	C	C	T			TCGA-AB-2931-03A-01W-0745-08	TCGA-AB-2931-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	87ebd9e4-74d3-4314-85ea-86e6feacd628	af114bb0-997c-4288-ad46-547239566692	g.chr21:46020572C>T	ENST00000380102.2	+	1	76	c.51C>T	c.(49-51)agC>agT	p.S17S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	17						keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTACGGCAGCCGCGTCTGCC	0.637																																						dbGAP											0			21											40	51	47					21																	46020572		2073	4193	6266	44845000	SO:0001819	synonymous_variant	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"Keratin associated proteins"	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.51C>T	21.37:g.46020572C>T		109	5.17	6					44845000	49	41.67	35	Q0VDJ8|Q70LJ2	Silent	SNP	HMMPfam_Keratin_B2	p.S17	ENST00000380102.2	37	c.51		21																																																																																			-	NULL		0.637	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	protein_coding	OTTHUMT00000128038.1	C	NM_198689		44845000	1	no_errors	NM_198689.2	genbank	human	validated	54_36p	silent	SNP	0.002	T	T	46020572	C	T	46020572	2	4	123	1	0	0	0	0	0	0	0	1	8514	738	26	2		2	KRTAP10-7	21	46020572	Silent	SNP	C	TCGA-AB-2931-03A-01W-0745-08		46020572	2109323	11	1421											
NRAS	4893	genome.wustl.edu	37	1	115258744	115258744	+	Missense_Mutation	SNP	C	C	T	rs121434596		TCGA-AB-2932-03A-01W-0745-08	TCGA-AB-2932-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0e9732b4-5a84-4965-94d7-c73f5ad0c980	03f36e64-f07d-4c2d-b00f-d92b54742594	g.chr1:115258744C>T	ENST00000369535.4	-	2	291	c.38G>A	c.(37-39)gGt>gAt	p.G13D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(188)|p.G13V(56)|p.G13A(16)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCCCAACACCACCTGCTCC	0.498	G13D(HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13V(AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	262	Substitution - Missense(262)	haematopoietic_and_lymphoid_tissue(217)|skin(36)|thyroid(2)|large_intestine(2)|soft_tissue(2)|central_nervous_system(1)|endometrium(1)|NS(1)	1	GRCh37	CM071907	NRAS	M	rs121434596						208	185	193					1																	115258744		2203	4300	6503	115060267	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.38G>A	1.37:g.115258744C>T	ENSP00000358548:p.Gly13Asp	99	7.41	8		27	20.59	7	115060267	68	33.98	35	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G13D	ENST00000369535.4	37	c.38	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048221	0.93740	.	.	ENSG00000213281	ENST00000369535	T	0.72942	-0.7	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	T	0.79644	0.4481	M	0.92604	3.325	0.80722	D	1	B	0.33964	0.434	B	0.42319	0.383	T	0.81673	-0.0826	10	0.62326	D	0.03	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	D	13	ENSP00000358548:G13D	ENSP00000358548:G13D	G	-	2	0	NRAS	115060267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060267	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115258744	C	T	115258744	3	4	124	1	0	0	0	0	1	0	0	0	10640	507	18	2	547	2	NRAS	1	115258744	Missense_Mutation	SNP	C	TCGA-AB-2932-03A-01W-0745-08		115258744	133991877	1	1422											
XIRP1	165904	genome.wustl.edu	37	3	39228919	39228919	+	Missense_Mutation	SNP	C	C	T	rs371304146		TCGA-AB-2932-03A-01W-0745-08	TCGA-AB-2932-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0e9732b4-5a84-4965-94d7-c73f5ad0c980	03f36e64-f07d-4c2d-b00f-d92b54742594	g.chr3:39228919C>T	ENST00000340369.3	-	2	2246	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.R673H	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	673					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCCACAGGGACGGCCTGAGGC	0.617													C|||	1	0.000199681	0	0	5008	,	,		18751	0		0	False		,,,				2504	0.001					dbGAP											0			3						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	37	41	40		2018,2018	-0.5	0	3		40	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	XIRP1	NM_001198621.1,NM_194293.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	673/1122,673/1844	39228919	1,13005	2203	4300	6503	39203923	SO:0001583	missense	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.2018G>A	3.37:g.39228919C>T	ENSP00000343140:p.Arg673His	53	5.36	3					39203923	21	25	7	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	HMMPfam_Xin	p.R673H	ENST00000340369.3	37	c.2018	CCDS2683.1	3	.	.	.	.	.	.	.	.	.	.	C	2.202	-0.382784	0.04966	0.0	1.16E-4	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05081	3.5;3.89	4.69	-0.463	0.12164	.	0.798090	0.11712	N	0.536771	T	0.04003	0.0112	N	0.22421	0.69	0.09310	N	1	B;B	0.12013	0.004;0.005	B;B	0.04013	0.001;0.001	T	0.40646	-0.9552	10	0.42905	T	0.14	.	4.4742	0.11727	0.1538:0.3647:0.0:0.4815	.	673;673	Q702N8;Q702N8-2	XIRP1_HUMAN;.	H	673	ENSP00000379550:R673H;ENSP00000343140:R673H	ENSP00000343140:R673H	R	-	2	0	XIRP1	39203923	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	0.174000	0.16743	-0.340000	0.08388	-0.253000	0.11424	CGT	-	NULL		0.617	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	protein_coding	OTTHUMT00000254065.1	C	XM_093522		39203923	-1	no_errors	NM_194293.2	genbank	human	provisional	54_36p	missense	SNP	0.000	T	T	39228919	C	T	39228919	3	4	124	1	0	0	0	0	1	0	0	0	17426	536	19	1	3517	1	XIRP1	3	39228919	Missense_Mutation	SNP	C	TCGA-AB-2932-03A-01W-0745-08		39228919	158793511	2	1423											
SETD2	29072	genome.wustl.edu	37	3	47165152	47165153	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AB-2932-03A-01W-0745-08	TCGA-AB-2932-11A-01W-0745-08	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0e9732b4-5a84-4965-94d7-c73f5ad0c980	03f36e64-f07d-4c2d-b00f-d92b54742594	g.chr3:47165152_47165153insC	ENST00000409792.3	-	3	1015_1016	c.973_974insG	c.(973-975)gaafs	p.E325fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	325					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TACAGAATCTTCATCAGATTCT	0.342			"N, F, S, Mis"		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0			3																																								47140157	SO:0001589	frameshift_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"Chromatin-modifying enzymes / K-methyltransferases"	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.974dupG	3.37:g.47165153_47165153dupC	ENSP00000386759:p.Glu325fs	0	0	0		18	47.06	16	47140156	0	0	0	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Ins	INS	HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508,HMMSmart_SM00570,superfamily_Ferritin-like,HMMPfam_SRI_2,PatternScan_ADH_IRON_1,superfamily_SET domain	p.E325fs	ENST00000409792.3	37	c.974_973	CCDS2749.2	3																																																																																			-	NULL		0.342	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	protein_coding	OTTHUMT00000257479.2	-	NM_014159		47140157	-1	no_errors	ENST00000409792	ensembl	human	known	54_36p	frame_shift_ins	INS	1.000:1.000	C	C	47165153	-	C	47165152	7	5	124	1	0	1	1	0	0	0	0	0	14131	1783	62	0	6796	0	SETD2	3	47165152	Frame_Shift_Ins	INS	-	TCGA-AB-2932-03A-01W-0745-08	7936233	47165152	150857278	3	1424											
LARS	51520	genome.wustl.edu	37	5	145543937	145543937	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2932-03A-01W-0745-08	TCGA-AB-2932-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0e9732b4-5a84-4965-94d7-c73f5ad0c980	03f36e64-f07d-4c2d-b00f-d92b54742594	g.chr5:145543937G>C	ENST00000394434.2	-	6	696	c.530C>G	c.(529-531)gCa>gGa	p.A177G	LARS_ENST00000510191.1_Missense_Mutation_p.A123G|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Missense_Mutation_p.A150G|LARS_ENST00000545646.1_Missense_Mutation_p.A131G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	177					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCAATGTTCTGCTTCAGAAAA	0.388																																						dbGAP											0			5											117	127	123					5																	145543937		2203	4300	6503	145524130	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"Aminoacyl tRNA synthetases / Class I"	6512	protein-coding gene	gene with protein product	"leucine tRNA ligase 1, cytoplasmic"	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.530C>G	5.37:g.145543937G>C	ENSP00000377954:p.Ala177Gly	92	8	8		21	52.27	23	145524130	67	40.18	45	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,HMMPfam_tRNA-synt_1g,superfamily_Nucleotidylyl transferase	p.A177G	ENST00000394434.2	37	c.530	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866828	0.72065	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.77358	-1.09;1.26;-1.09;-1.09	5.54	5.54	0.83059	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.90417	0.7000	M	0.89095	3.005	0.80722	D	1	B;D;B	0.71674	0.213;0.998;0.428	B;D;B	0.80764	0.199;0.994;0.414	D	0.91519	0.5233	10	0.87932	D	0	-5.4056	19.8568	0.96762	0.0:0.0:1.0:0.0	.	150;131;177	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	G	177;131;123;150	ENSP00000377954:A177G;ENSP00000437791:A131G;ENSP00000426005:A123G;ENSP00000274562:A150G	ENSP00000274562:A150G	A	-	2	0	LARS	145524130	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	9.268000	0.95675	2.764000	0.94973	0.650000	0.86243	GCA	-	superfamily_Nucleotidylyl transferase		0.388	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	protein_coding	OTTHUMT00000373367.1	G	NM_020117		145524130	-1	no_errors	NM_020117.9	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	145543937	G	C	145543937	3	2	124	1	0	0	0	0	1	0	0	0	8634	1319	46	4	3108	4	LARS	5	145543937	Missense_Mutation	SNP	G	TCGA-AB-2932-03A-01W-0745-08		145543937	35371323	4	1425											
UBE2R2	54926	genome.wustl.edu	37	9	33917176	33917178	+	In_Frame_Del	DEL	GAG	GAG	-	rs199597685		TCGA-AB-2932-03A-01W-0745-08	TCGA-AB-2932-11A-01W-0745-08	GAG	GAG	GAG	-	GAG	GAG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0e9732b4-5a84-4965-94d7-c73f5ad0c980	03f36e64-f07d-4c2d-b00f-d92b54742594	g.chr9:33917176_33917178delGAG	ENST00000263228.3	+	5	849_851	c.658_660delGAG	c.(658-660)gagdel	p.E223del		NM_017811.3	NP_060281.2	Q712K3	UB2R2_HUMAN	ubiquitin-conjugating enzyme E2R 2	223	Asp/Glu-rich (acidic).				protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			LUSC - Lung squamous cell carcinoma(29;0.0176)	GBM - Glioblastoma multiforme(74;0.188)		tgatgaagatgaggaggaggaag	0.488																																						dbGAP											0			9																																								33907178	SO:0001651	inframe_deletion	0			AK000426	CCDS6546.1	9p11.2	2008-02-05			ENSG00000107341	ENSG00000107341		"Ubiquitin-conjugating enzymes E2"	19907	protein-coding gene	gene with protein product		612506				12037680	Standard	XM_005251496		Approved	UBC3B, CDC34B, FLJ20419, MGC10481	uc003ztm.3	Q712K3	OTTHUMG00000019797	ENST00000263228.3:c.658_660delGAG	9.37:g.33917182_33917184delGAG	ENSP00000263228:p.Glu223del	0	8.24	15		0	28.86	101	33907176	0	29.85	60	D3DRL5|Q9NX64	In_Frame_Del	DEL	HMMPfam_UQ_con,HMMSmart_SM00212,PatternScan_UBIQUITIN_CONJUGAT_1,superfamily_UBC-like	p.E223in_frame_del	ENST00000263228.3	37	c.658_660	CCDS6546.1	9																																																																																			-	NULL		0.488	UBE2R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2R2	protein_coding	OTTHUMT00000052118.1	GAG	NM_017811		33907178	1	no_errors	NM_017811.3	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000	-	-	33917178	GAG	-	33917176	7	5	124	1	0	1	0	1	0	0	0	0	16868	1291	45	0	676	0	UBE2R2	9	33917176	In_Frame_Del	DEL	GAG	TCGA-AB-2932-03A-01W-0745-08		33917176	107296255	5	1426											
NELL1	4745	genome.wustl.edu	37	11	20959373	20959373	+	Silent	SNP	C	C	A			TCGA-AB-2932-03A-01W-0745-08	TCGA-AB-2932-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0e9732b4-5a84-4965-94d7-c73f5ad0c980	03f36e64-f07d-4c2d-b00f-d92b54742594	g.chr11:20959373C>A	ENST00000357134.5	+	10	1191	c.1039C>A	c.(1039-1041)Cgg>Agg	p.R347R	NELL1_ENST00000532434.1_Silent_p.R347R|NELL1_ENST00000298925.5_Silent_p.R375R|NELL1_ENST00000325319.5_Silent_p.R290R	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	347					cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAAGGCCAGCGGATTTTAAC	0.408																																						dbGAP											0			11											108	105	106					11																	20959373		2203	4300	6503	20915949	SO:0001819	synonymous_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"nel (chicken)-like 1"			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1039C>A	11.37:g.20959373C>A		220	4.76	11					20915949	201	22.99	60	B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMSmart_SM00282,HMMSmart_SM00179,HMMSmart_SM00210,HMMSmart_SM00181,HMMSmart_SM00215,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_EGF_2,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.R347	ENST00000357134.5	37	c.1039	CCDS7855.1	11																																																																																			-	HMMSmart_SM00214		0.408	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	protein_coding	OTTHUMT00000387588.1	C	NM_006157		20915949	1	no_errors	NM_006157.3	genbank	human	reviewed	54_36p	silent	SNP	0.995	A	A	20959373	C	A	20959373	2	1	124	1	0	0	0	0	0	0	0	1	10333	759	27	4		4	NELL1	11	20959373	Silent	SNP	C	TCGA-AB-2932-03A-01W-0745-08		20959373	114047143	6	1427											
DSG2	1829	genome.wustl.edu	37	18	29100843	29100843	+	Silent	SNP	T	T	G			TCGA-AB-2932-03A-01W-0745-08	TCGA-AB-2932-11A-01W-0745-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0e9732b4-5a84-4965-94d7-c73f5ad0c980	03f36e64-f07d-4c2d-b00f-d92b54742594	g.chr18:29100843T>G	ENST00000261590.8	+	4	503	c.294T>G	c.(292-294)ccT>ccG	p.P98P	DSG2_ENST00000585206.1_Silent_p.P98P	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	98	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CAGAGCCACCTTTTGGTATAT	0.328																																						dbGAP											0			18											57	55	56					18																	29100843		1813	4062	5875	27354841	SO:0001819	synonymous_variant	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"Cadherins / Major cadherins"	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.294T>G	18.37:g.29100843T>G		68	2.78	2					27354841	33	49.23	32	Q4KKU6	Silent	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin	p.P98	ENST00000261590.8	37	c.294	CCDS42423.1	18																																																																																			-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.328	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	protein_coding	OTTHUMT00000447506.1	T	NM_001943		27354841	1	no_errors	NM_001943.3	genbank	human	reviewed	54_36p	silent	SNP	0.573	G	G	29100843	T	G	29100843	2	3	124	1	0	0	0	0	0	0	0	1	4777	1596	56	5		5	DSG2	18	29100843	Silent	SNP	T	TCGA-AB-2932-03A-01W-0745-08		29100843	48976405	7	1428											
RUNX1	861	genome.wustl.edu	37	21	36252878	36252878	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2933-03A-01W-0732-08	TCGA-AB-2933-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6d15ce69-363c-4d86-a28b-e0e5466bf654	90ef281f-d23b-4c3c-b73c-f786d6cebf30	g.chr21:36252878T>C	ENST00000344691.4	-	2	1980	c.403A>G	c.(403-405)Agg>Ggg	p.R135G	RUNX1_ENST00000325074.5_Missense_Mutation_p.R150G|RUNX1_ENST00000358356.5_Missense_Mutation_p.R135G|RUNX1_ENST00000300305.3_Missense_Mutation_p.R162G|RUNX1_ENST00000437180.1_Missense_Mutation_p.R162G|RUNX1_ENST00000399240.1_Missense_Mutation_p.R135G|RUNX1_ENST00000486278.2_Missense_Mutation_p.R138G	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	135	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.R162G(2)|p.N159fs*49(1)		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						CCGACAAACCTGAGGTCATTA	0.438			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	3	Substitution - Missense(2)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(3)	21											120	106	111					21																	36252878		2203	4300	6503	35174748	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.403A>G	21.37:g.36252878T>C	ENSP00000340690:p.Arg135Gly	48	20	12		119	57.65	162	35174748	10	58.33	14	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.R162G	ENST00000344691.4	37	c.484	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	T	21.0	4.083810	0.76642	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	D;D;D;D;D;D;D;D	0.99711	-6.49;-6.49;-6.49;-6.49;-6.49;-6.49;-6.49;-6.49	5.31	5.31	0.75309	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	0.99629	0.9864	M	0.83483	2.645	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.983;0.976;0.999;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.987;0.981;0.998;0.999;0.998	D	0.97837	1.0266	10	0.87932	D	0	-23.5262	11.5758	0.50860	0.0:0.0:0.2747:0.7253	.	162;135;135;138;162;150;135	Q2TAM6;Q01196-5;Q01196-3;C9JK12;Q01196-8;Q01196-10;Q01196	.;.;.;.;.;.;RUNX1_HUMAN	G	135;162;162;150;135;138;135;150;138	ENSP00000340690:R135G;ENSP00000300305:R162G;ENSP00000409227:R162G;ENSP00000319459:R150G;ENSP00000382184:R135G;ENSP00000351123:R135G;ENSP00000382182:R150G;ENSP00000438019:R138G	ENSP00000300305:R162G	R	-	1	2	RUNX1	35174748	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.266000	0.43320	2.143000	0.66587	0.533000	0.62120	AGG	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.438	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	T			35174748	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	36252878	T	C	36252878	3	2	125	1	0	0	0	0	1	0	0	0	13746	1579	55	3	1011	3	RUNX1	21	36252878	Missense_Mutation	SNP	T	TCGA-AB-2933-03A-01W-0732-08		36252878	11877017	1	1429											
DNMT3A	1788	genome.wustl.edu	37	2	25463286	25463286	+	Missense_Mutation	SNP	C	C	T	rs139293773		TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chr2:25463286C>T	ENST00000264709.3	-	19	2544	c.2207G>A	c.(2206-2208)cGc>cAc	p.R736H	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R547H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R736H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R513H|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	736	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R736H(3)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCAGGAGGCGGTAGAACTC	0.587			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	72	70	71		2207,1640,2207	4.5	1	2	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	736/913,547/724,736/913	25463286	1,13005	2203	4300	6503	25316790	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2207G>A	2.37:g.25463286C>T	ENSP00000264709:p.Arg736His	47	11.32	6		25	55.36	31	25316790	34	41.27	26	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R736H	ENST00000264709.3	37	c.2207	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165867	0.78339	0.0	1.16E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	5.38	4.5	0.54988	.	0.047243	0.85682	N	0.000000	D	0.91981	0.7460	M	0.73372	2.23	0.80722	D	1	D;P	0.69078	0.997;0.704	P;B	0.62298	0.9;0.151	D	0.89917	0.4056	10	0.22706	T	0.39	-9.1764	12.5433	0.56184	0.0:0.9186:0.0:0.0814	.	736;547	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	547;736;736;513	ENSP00000370122:R547H;ENSP00000324375:R736H;ENSP00000264709:R736H;ENSP00000384237:R513H	ENSP00000264709:R736H	R	-	2	0	DNMT3A	25316790	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.732000	0.47352	1.277000	0.44412	0.561000	0.74099	CGC	-	HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.587	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25316790	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25463286	C	T	25463286	3	4	126	1	0	0	0	0	1	0	0	0	4676	768	27	1	551	1	DNMT3A	2	25463286	Missense_Mutation	SNP	C	TCGA-AB-2934-03A-01W-0755-09		25463286	217736087	1	1430											
DNMT3A	1788	genome.wustl.edu	37	2	25464576	25464576	+	Splice_Site	SNP	C	C	A			TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chr2:25464576C>A	ENST00000264709.3	-	17	2274	c.1937G>T	c.(1936-1938)gGg>gTg	p.G646V	DNMT3A_ENST00000380746.4_Splice_Site_p.G457V|DNMT3A_ENST00000321117.5_Splice_Site_p.G646V|DNMT3A_ENST00000402667.1_Splice_Site_p.G423V|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	646	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCAGGAGCCCTGCACCAGC	0.642			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0			2											98	56	70					2																	25464576		2203	4300	6503	25318080	SO:0001630	splice_region_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1937-1G>T	2.37:g.25464576C>A		30	3.23	1		27	34.15	14	25318080	60	37.5	36	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.G646V	ENST00000264709.3	37	c.1937	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528020	0.85706	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.93216	0.7839	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94755	0.7931	10	0.87932	D	0	.	17.2626	0.87075	0.0:1.0:0.0:0.0	.	646;457	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	457;646;646;423	ENSP00000370122:G457V;ENSP00000324375:G646V;ENSP00000264709:G646V;ENSP00000384237:G423V	ENSP00000264709:G646V	G	-	2	0	DNMT3A	25318080	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.818000	0.86416	2.422000	0.82143	0.561000	0.74099	GGG	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.642	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552	Missense_Mutation	25318080	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25464576	C	A	25464576	5	1	126	1	0	0	0	0	0	0	1	0	4676	637	22	4	829	4	DNMT3A	2	25464576	Splice_Site	SNP	C	TCGA-AB-2934-03A-01W-0755-09	1290	25464576	217734797	2	1431											
CYBRD1	79901	genome.wustl.edu	37	2	172411097	172411097	+	Silent	SNP	G	G	T			TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chr2:172411097G>T	ENST00000321348.4	+	4	819	c.621G>T	c.(619-621)ctG>ctT	p.L207L	CYBRD1_ENST00000375252.3_Missense_Mutation_p.D138Y|CYBRD1_ENST00000409484.1_Silent_p.L149L	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	207	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				cellular iron ion homeostasis (GO:0006879)|response to iron ion (GO:0010039)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|oxidoreductase activity, oxidizing metal ions (GO:0016722)			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TTGGCCTTCTGATCCTGGTGT	0.448																																						dbGAP											0			2											84	78	80					2																	172411097		2203	4300	6503	172119343	SO:0001819	synonymous_variant	0			AK027115	CCDS2244.1, CCDS46449.1, CCDS58736.1	2q31	2013-03-14			ENSG00000071967	ENSG00000071967		"Cytochrome b genes"	20797	protein-coding gene	gene with protein product	"ferric-chelate reductase 3", "cytochrome b561 family, member A2"	605745				11230685	Standard	NM_001127383		Approved	DCYTB, FLJ23462, FRRS3, CYB561A2	uc002ugy.4	Q53TN4	OTTHUMG00000132260	ENST00000321348.4:c.621G>T	2.37:g.172411097G>T		66	12	9		63	31.52	29	172119343	130	45.23	109	B2RE79|B4DWD7|Q6KC16|Q6KC17|Q6P147|Q6ZR51|Q9H0Q8|Q9H5G5	Missense_Mutation	SNP	HMMPfam_Cytochrom_B561,PatternScan_SPASE_I_1	p.D138Y	ENST00000321348.4	37	c.412	CCDS2244.1	2	.	.	.	.	.	.	.	.	.	.	G	17.50	3.406350	0.62288	.	.	ENSG00000071967	ENST00000375252	.	.	.	5.16	2.21	0.28008	.	.	.	.	.	T	0.29588	0.0738	.	.	.	0.27067	N	0.963407	B	0.14438	0.01	B	0.14023	0.01	T	0.25745	-1.0123	7	0.87932	D	0	-3.1487	5.347	0.16014	0.0725:0.1909:0.5328:0.2037	.	138	Q53TN4-2	.	Y	138	.	ENSP00000364401:D138Y	D	+	1	0	CYBRD1	172119343	0.992000	0.36948	0.983000	0.44433	0.892000	0.51952	0.894000	0.28350	1.178000	0.42870	-0.140000	0.14226	GAT	-	NULL		0.448	CYBRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYBRD1	protein_coding	OTTHUMT00000255344.2	G	NM_024843		172119343	1	no_errors	ENST00000375252	ensembl	human	known	54_36p	missense	SNP	0.981	T	T	172411097	G	T	172411097	2	4	126	1	0	0	0	0	0	0	0	1	4134	1290	45	4		4	CYBRD1	2	172411097	Silent	SNP	G	TCGA-AB-2934-03A-01W-0755-09	146946521	172411097	70788276	3	1432											
KCNH2	3757	genome.wustl.edu	37	7	150649894	150649894	+	Silent	SNP	T	T	G			TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chr7:150649894T>G	ENST00000262186.5	-	6	1577	c.1176A>C	c.(1174-1176)gcA>gcC	p.A392A	KCNH2_ENST00000392968.2_Silent_p.A296A|KCNH2_ENST00000430723.3_Silent_p.A392A|KCNH2_ENST00000330883.4_Silent_p.A52A	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	392					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GGATGCGCGGTGCCTGCAGCT	0.657																																					GBM(137;110 1844 13671 20123 45161)	dbGAP											0			7											107	87	94					7																	150649894		2203	4300	6503	150280827	SO:0001819	synonymous_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1176A>C	7.37:g.150649894T>G		42	6.67	3		1	50	1	150280827	43	47.67	41	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels	p.A392	ENST00000262186.5	37	c.1176	CCDS5910.1	7																																																																																			-	NULL		0.657	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	protein_coding	OTTHUMT00000350741.2	T	NM_000238		150280827	-1	no_errors	NM_000238.2	genbank	human	reviewed	54_36p	silent	SNP	0.899	G	G	150649894	T	G	150649894	2	3	126	1	0	0	0	0	0	0	0	1	8032	1683	59	5		5	KCNH2	7	150649894	Silent	SNP	T	TCGA-AB-2934-03A-01W-0755-09		150649894	8488769	4	1433											
C9orf43	257169	genome.wustl.edu	37	9	116185663	116185663	+	Missense_Mutation	SNP	A	A	G	rs140205519		TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chr9:116185663A>G	ENST00000288462.4	+	7	987	c.541A>G	c.(541-543)Aca>Gca	p.T181A	C9orf43_ENST00000374165.1_Missense_Mutation_p.T181A	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	181										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						ACGAGTAGGAACACCAGGGAT	0.468																																						dbGAP											0			9						A	ALA/THR	0,4406		0,0,2203	119	105	110		541	-5	0	9	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf43	NM_152786.1	58	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	181/462	116185663	1,13005	2203	4300	6503	115225484	SO:0001583	missense	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.541A>G	9.37:g.116185663A>G	ENSP00000288462:p.Thr181Ala	101	7.34	8					115225484	120	46.09	106		Missense_Mutation	SNP	NULL	p.T181A	ENST00000288462.4	37	c.541	CCDS6796.1	9	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019573	0.35606	0.0	1.16E-4	ENSG00000157653	ENST00000374165;ENST00000288462	T;T	0.42131	0.98;0.98	4.93	-5.0	0.03001	.	1.995050	0.02200	N	0.062167	T	0.20536	0.0494	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.06481	-1.0824	10	0.21540	T	0.41	11.3622	1.9583	0.03381	0.3286:0.2778:0.286:0.1076	.	181	Q8TAL5	CI043_HUMAN	A	181	ENSP00000363280:T181A;ENSP00000288462:T181A	ENSP00000288462:T181A	T	+	1	0	C9orf43	115225484	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.254000	0.08781	-0.660000	0.05352	0.533000	0.62120	ACA	-	NULL		0.468	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	protein_coding	OTTHUMT00000053739.1	A	NM_152786		115225484	1	no_errors	NM_152786.1	genbank	human	predicted	54_36p	missense	SNP	0.000	G	G	116185663	A	G	116185663	3	3	126	1	0	0	0	0	1	0	0	0	2483	43	2	3	563	3	C9orf43	9	116185663	Missense_Mutation	SNP	A	TCGA-AB-2934-03A-01W-0755-09		116185663	25027768	5	1434											
ABCG4	64137	genome.wustl.edu	37	11	119031351	119031351	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chr11:119031351A>G	ENST00000449422.2	+	14	1888	c.1700A>G	c.(1699-1701)tAt>tGt	p.Y567C	ABCG4_ENST00000531739.1_Missense_Mutation_p.Y567C|ABCG4_ENST00000307417.3_Missense_Mutation_p.Y567C	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	567	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGAGCTCCTATCTCTCCTAT	0.577																																						dbGAP											0			11											200	190	193					11																	119031351		2200	4295	6495	118536561	SO:0001583	missense	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"ATP binding cassette transporters / subfamily G"	13884	protein-coding gene	gene with protein product	"putative ABC transporter", "ATP-binding cassette, subfamily G, member 4"	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1700A>G	11.37:g.119031351A>G	ENSP00000406874:p.Tyr567Cys	86	3.33	3					118536561	135	32.84	66	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	HMMPfam_ABC_tran,HMMSmart_SM00382,HMMPfam_ABC2_membrane,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Y567C	ENST00000449422.2	37	c.1700	CCDS8415.1	11	.	.	.	.	.	.	.	.	.	.	A	23.5	4.427972	0.83667	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.74421	-0.84;-0.84;-0.84	5.49	5.49	0.81192	ABC-2 type transporter (1);	0.164069	0.56097	D	0.000029	D	0.88779	0.6529	M	0.92738	3.34	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.91449	0.5180	10	0.87932	D	0	-6.8349	14.6205	0.68582	1.0:0.0:0.0:0.0	.	567	Q9H172	ABCG4_HUMAN	C	567	ENSP00000304111:Y567C;ENSP00000406874:Y567C;ENSP00000434318:Y567C	ENSP00000304111:Y567C	Y	+	2	0	ABCG4	118536561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.254000	0.95512	2.105000	0.64084	0.456000	0.33151	TAT	-	HMMPfam_ABC2_membrane		0.577	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	protein_coding	OTTHUMT00000388215.1	A	NM_022169		118536561	1	no_errors	NM_022169.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	119031351	A	G	119031351	3	3	126	1	0	0	0	0	1	0	0	0	70	449	16	3	1750	3	ABCG4	11	119031351	Missense_Mutation	SNP	A	TCGA-AB-2934-03A-01W-0755-09		119031351	15975165	6	1435											
MGAT4C	25834	genome.wustl.edu	37	12	86373735	86373735	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chr12:86373735G>T	ENST00000604798.1	-	8	1973	c.769C>A	c.(769-771)Ctt>Att	p.L257I	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.L257I|MGAT4C_ENST00000393205.2_Missense_Mutation_p.L286I|MGAT4C_ENST00000549405.2_Missense_Mutation_p.L257I|MGAT4C_ENST00000552808.2_Missense_Mutation_p.L257I|MGAT4C_ENST00000332156.1_Missense_Mutation_p.L257I			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	257					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGTAGCCAAGCTTAGAGAAT	0.363																																						dbGAP											0			12											72	69	70					12																	86373735		2203	4299	6502	84897866	SO:0001583	missense	0				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"	30871	protein-coding gene	gene with protein product		607385	"mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.769C>A	12.37:g.86373735G>T	ENSP00000474896:p.Leu257Ile	37	7.5	3					84897866	72	46.76	65	B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	HMMPfam_Glyco_transf_54	p.L257I	ENST00000604798.1	37	c.769	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387264	0.61956	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58	5.79	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	M	0.86573	2.825	0.52501	D	0.999951	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82065	-0.0642	10	0.72032	D	0.01	-12.8762	16.8482	0.85986	0.0:0.1286:0.8714:0.0	.	286;257	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	I	257;286;257;257;257;257;257	ENSP00000331664:L257I;ENSP00000376900:L286I;ENSP00000449022:L257I;ENSP00000446647:L257I;ENSP00000447253:L257I;ENSP00000449172:L257I	ENSP00000331664:L257I	L	-	1	0	MGAT4C	84897866	1.000000	0.71417	0.998000	0.56505	0.592000	0.36648	4.878000	0.63093	1.416000	0.47057	0.655000	0.94253	CTT	-	HMMPfam_Glyco_transf_54		0.363	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	protein_coding	OTTHUMT00000406212.2	G	NM_013244		84897866	-1	no_errors	NM_013244.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	86373735	G	T	86373735	3	4	126	1	0	0	0	0	1	0	0	0	9547	971	34	4	671	4	MGAT4C	12	86373735	Missense_Mutation	SNP	G	TCGA-AB-2934-03A-01W-0755-09		86373735	47478160	7	1436											
FLT3	2322	genome.wustl.edu	37	13	28608257	28608258	+	In_Frame_Ins	INS	-	-	CATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC			TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	-	-	-	CATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chr13:28608257_28608258insCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC	ENST00000241453.7	-	14	1879_1880	c.1798_1799insGGACCGGCTCCTAAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATG	c.(1798-1800)gat>gGGACCGGCTCCTAAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATGat	p.599_600insGTGS*DNEYFYVDFREYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insGTGS*DNEYFYVDFREYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insGTGS*DNEYFYVDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y599_D600insPAPQIMSTSTLISENMNIA(2)|p.Y599_D600ins15(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.D600_L601insVDFREYEY(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCATTTGAGATCATATTCATAT	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	9	Insertion - In frame(8)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(9)	13																																								27506258	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1798_1799insGGACCGGCTCCTAAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATG	13.37:g.28608257_28608258insCATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC	ENSP00000241453:p.Tyr599_Asp600insGlyThrGlySer*AspAsnGluTyrPheTyrValAspPheArgGluTyrGluTyr								27506257				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insGTGS*DNEYFYVDFREYEY	ENST00000241453.7	37	c.1799_1798	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506258	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	CATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC	CATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC	28608258	-	CATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTTAGGAGCCGGTCC	28608257	7	5	126	1	0	1	1	0	0	0	0	0	5942	1435	50	0	1226	0	FLT3	13	28608257	In_Frame_Ins	INS	-	TCGA-AB-2934-03A-01W-0755-09		28608257	86561621	8	1437											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	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_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron	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	103	103					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	69	2.82	2		93	46.86	82	88432938	59	46.36	51	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	T	90631934	C	T	90631934	3	4	126	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2934-03A-01W-0755-09		90631934	11899458	9	1438											
USP9X	8239	genome.wustl.edu	37	X	41027390	41027391	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-AB-2934-03A-01W-0755-09	TCGA-AB-2934-11A-01W-0755-09	-	-	-	CG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7791e140-fe03-44d0-8250-47826ea993df	c98ddb47-f34c-4646-a434-5f8e6f6b5853	g.chrX:41027390_41027391insCG	ENST00000324545.8	+	18	3188_3189	c.2555_2556insCG	c.(2554-2559)cgagtafs	p.V853fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.V853fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	853					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CGAATGGTTCGAGTATTAACTG	0.366																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0			X																																								40912335	SO:0001589	frameshift_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.2554_2555dupCG	X.37:g.41027389_41027390dupCG	ENSP00000316357:p.Val853fs	85	0	0		9	0	0	40912334	217	0	0	O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases	p.V853fs	ENST00000324545.8	37	c.2555_2556	CCDS43930.1	X																																																																																			-	NULL		0.366	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	protein_coding	OTTHUMT00000056250.4	-	NM_004652		40912335	1	no_errors	NM_001039590.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	CG	CG	41027391	-	CG	41027390	7	5	126	1	0	1	1	0	0	0	0	0	17087	1058	37	0	2621	0	USP9X	23	41027390	Frame_Shift_Ins	INS	-	TCGA-AB-2934-03A-01W-0755-09		41027390	114243170	10	1439											
GJB3	2707	genome.wustl.edu	37	1	35250792	35250792	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr1:35250792C>G	ENST00000373366.2	+	2	1044	c.429C>G	c.(427-429)ttC>ttG	p.F143L	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Missense_Mutation_p.F143L	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	143					cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)	gap junction channel activity (GO:0005243)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TCATTGAGTTCCTCTTCCTCT	0.587																																						dbGAP											0			1											232	244	240					1																	35250792		2203	4300	6503	35023379	SO:0001583	missense	0			BC012918	CCDS384.1	1p34	2008-05-14	2007-01-16		ENSG00000188910	ENSG00000188910		"Ion channels / Gap junction proteins (connexins)"	4285	protein-coding gene	gene with protein product	"connexin 31"	603324	"gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis"	DFNA2, EKV		9843210, 9704026	Standard	NM_024009		Approved	CX31	uc001bxy.3	O75712	OTTHUMG00000004051	ENST00000373366.2:c.429C>G	1.37:g.35250792C>G	ENSP00000362464:p.Phe143Leu	264	0.75	2		0	100	1	35023379	396	26.81	148	B2R790|Q2TAZ8	Missense_Mutation	SNP	HMMPfam_Connexin,HMMSmart_SM00037,PatternScan_CONNEXINS_1,PatternScan_CONNEXINS_2,HMMPfam_Connexin_CCC	p.F143L	ENST00000373366.2	37	c.429	CCDS384.1	1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.590594	0.28357	.	.	ENSG00000188910	ENST00000373366;ENST00000373362	D;D	0.95035	-3.59;-3.59	5.62	3.68	0.42216	Gap junction protein, cysteine-rich domain (1);	0.655481	0.15714	N	0.248276	D	0.84070	0.5391	N	0.02765	-0.5	0.26115	N	0.980635	B	0.02656	0.0	B	0.09377	0.004	T	0.73161	-0.4070	10	0.29301	T	0.29	.	9.3693	0.38244	0.0:0.6538:0.2722:0.074	.	143	O75712	CXB3_HUMAN	L	143	ENSP00000362464:F143L;ENSP00000362460:F143L	ENSP00000362460:F143L	F	+	3	2	GJB3	35023379	0.274000	0.24191	0.998000	0.56505	0.964000	0.63967	0.050000	0.14120	0.674000	0.31244	0.556000	0.70494	TTC	-	HMMPfam_Connexin_CCC		0.587	GJB3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GJB3	protein_coding	OTTHUMT00000011559.1	C	NM_024009		35023379	1	no_errors	NM_001005752.1	genbank	human	reviewed	54_36p	missense	SNP	0.072	G	G	35250792	C	G	35250792	3	3	127	1	0	0	0	0	1	0	0	0	6409	854	30	4	431	4	GJB3	1	35250792	Missense_Mutation	SNP	C	TCGA-AB-2935-03A-01W-0755-09		35250792	213999829	1	1440											
CAMKV	79012	genome.wustl.edu	37	3	49896767	49896767	+	Missense_Mutation	SNP	C	C	T	rs149379959		TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr3:49896767C>T	ENST00000477224.1	-	11	1968	c.1490G>A	c.(1489-1491)aGg>aAg	p.R497K	CAMKV_ENST00000296471.7_Missense_Mutation_p.R469K|CAMKV_ENST00000463537.1_Missense_Mutation_p.G429R|TRAIP_ENST00000473863.1_5'Flank|CAMKV_ENST00000466940.1_Missense_Mutation_p.R423K|TRAIP_ENST00000469027.1_5'Flank|CAMKV_ENST00000488336.1_Missense_Mutation_p.R466K|CAMKV_ENST00000467248.1_Missense_Mutation_p.R422K|TRAIP_ENST00000331456.2_5'Flank|CAMKV_ENST00000498324.1_5'Flank			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	497						cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCTCCTCCCTTTGAGACTC	0.637																																						dbGAP											0			3											56	56	56					3																	49896767		2203	4300	6503	49871771	SO:0001583	missense	0			BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.1490G>A	3.37:g.49896767C>T	ENSP00000419195:p.Arg497Lys	82	0	0					49871771	137	29.29	58	A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase	p.R497K	ENST00000477224.1	37	c.1490	CCDS33762.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.72|11.72	1.721679|1.721679	0.30503|0.30503	.|.	.|.	ENSG00000164076|ENSG00000164076	ENST00000463537|ENST00000296471;ENST00000488336;ENST00000477224;ENST00000467248;ENST00000466940	T|T;T;T;T;T	0.67171|0.67698	-0.25|0.54;-0.05;-0.09;-0.28;1.8	5.33|5.33	3.47|3.47	0.39725|0.39725	.|.	.|0.283306	.|0.25427	.|N	.|0.030753	T|T	0.45816|0.45816	0.1361|0.1361	N|N	0.14661|0.14661	0.345|0.345	0.27444|0.27444	N|N	0.95365|0.95365	.|B;B;B;B;B;B;B	.|0.06786	.|0.0;0.0;0.0;0.0;0.001;0.0;0.001	.|B;B;B;B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.0;0.001;0.0;0.0	T|T	0.40942|0.40942	-0.9536|-0.9536	7|10	0.72032|0.66056	D|D	0.01|0.02	.|.	6.7261|6.7261	0.23357|0.23357	0.0:0.7028:0.0:0.2972|0.0:0.7028:0.0:0.2972	.|.	.|423;429;497;422;469;466;497	.|E7ETR1;B4DMF2;B2RDF9;B4DM24;Q8NCB2-2;Q8NCB2-3;Q8NCB2	.|.;.;.;.;.;.;CAMKV_HUMAN	R|K	429|469;466;497;422;423	ENSP00000417614:G429R|ENSP00000296471:R469K;ENSP00000418809:R466K;ENSP00000419195:R497K;ENSP00000420053:R422K;ENSP00000420724:R423K	ENSP00000417614:G429R|ENSP00000296471:R469K	G|R	-|-	1|2	0|0	CAMKV|CAMKV	49871771|49871771	0.043000|0.043000	0.20138|0.20138	0.989000|0.989000	0.46669|0.46669	0.976000|0.976000	0.68499|0.68499	0.038000|0.038000	0.13862|0.13862	0.748000|0.748000	0.32831|0.32831	-0.345000|-0.345000	0.07892|0.07892	GGG|AGG	-	NULL		0.637	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKV	protein_coding	OTTHUMT00000350584.4	C	NM_024046		49871771	-1	no_errors	NM_024046.3	genbank	human	validated	54_36p	missense	SNP	0.693	T	T	49896767	C	T	49896767	3	4	127	1	0	0	0	0	1	0	0	0	2608	681	24	2	19	2	CAMKV	3	49896767	Missense_Mutation	SNP	C	TCGA-AB-2935-03A-01W-0755-09		49896767	148125663	2	1441											
ALOX5	240	genome.wustl.edu	37	10	45938939	45938939	+	Silent	SNP	C	C	T			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr10:45938939C>T	ENST00000374391.2	+	11	1580	c.1527C>T	c.(1525-1527)ttC>ttT	p.F509F	RP11-67C2.2_ENST00000435635.1_RNA|ALOX5_ENST00000542434.1_Silent_p.F509F	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	509	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	TGCAGGACTTCGTGAACGATG	0.687																																						dbGAP											0			10											56	52	53					10																	45938939		2203	4300	6503	45258945	SO:0001819	synonymous_variant	0			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"Arachidonate lipoxygenases"	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.1527C>T	10.37:g.45938939C>T		36	0	0		30	32.61	15	45258945	124	26.32	45	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_2,PatternScan_LIPOXYGENASE_1,superfamily_Lipoxygenase	p.F509	ENST00000374391.2	37	c.1527	CCDS7212.1	10																																																																																			-	HMMPfam_Lipoxygenase,superfamily_Lipoxygenase		0.687	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	protein_coding	OTTHUMT00000047780.1	C			45258945	1	no_errors	NM_000698.2	genbank	human	reviewed	54_36p	silent	SNP	0.944	T	T	45938939	C	T	45938939	2	4	127	1	0	0	0	0	0	0	0	1	540	883	31	1		1	ALOX5	10	45938939	Silent	SNP	C	TCGA-AB-2935-03A-01W-0755-09		45938939	89595808	3	1442											
ANO3	63982	genome.wustl.edu	37	11	26663484	26663484	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr11:26663484G>C	ENST00000256737.3	+	22	3035	c.2183G>C	c.(2182-2184)gGa>gCa	p.G728A	ANO3_ENST00000531568.1_Missense_Mutation_p.G582A|ANO3_ENST00000525139.1_Missense_Mutation_p.G712A|ANO3_ENST00000537978.1_Missense_Mutation_p.G712A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	728					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCAAGCGGGGAATACATGAT	0.438																																						dbGAP											0			11											144	132	136					11																	26663484		2203	4299	6502	26620060	SO:0001583	missense	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"Ion channels / Chloride channels : Calcium activated : Anoctamins"	14004	protein-coding gene	gene with protein product	"transmembrane protein 16C (eight membrane-spanning domains)"	610110	"chromosome 11 open reading frame 25", "transmembrane protein 16C"	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2183G>C	11.37:g.26663484G>C	ENSP00000256737:p.Gly728Ala	283	0	0					26620060	364	28.24	144	B7Z3F5	Missense_Mutation	SNP	HMMPfam_DUF590	p.G728A	ENST00000256737.3	37	c.2183	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	8.900	0.956190	0.18507	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.61859	0.07;0.07;0.07;0.07	6.07	2.81	0.32909	.	0.562206	0.21174	N	0.078926	T	0.37625	0.1010	N	0.11756	0.17	0.27602	N	0.948933	B;B	0.18310	0.027;0.001	B;B	0.27715	0.082;0.012	T	0.19712	-1.0297	10	0.12430	T	0.62	.	12.9271	0.58266	0.2549:0.0:0.7451:0.0	.	630;728	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	A	712;712;728;630;582	ENSP00000440737:G712A;ENSP00000432576:G712A;ENSP00000256737:G728A;ENSP00000432394:G582A	ENSP00000256737:G728A	G	+	2	0	ANO3	26620060	1.000000	0.71417	0.941000	0.38009	0.976000	0.68499	4.135000	0.57997	0.913000	0.36797	0.655000	0.94253	GGA	-	HMMPfam_DUF590		0.438	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	protein_coding	OTTHUMT00000387806.1	G	NM_031418		26620060	1	no_errors	NM_031418.2	genbank	human	validated	54_36p	missense	SNP	0.983	C	C	26663484	G	C	26663484	3	2	127	1	0	0	0	0	1	0	0	0	698	1174	41	4	2269	4	ANO3	11	26663484	Missense_Mutation	SNP	G	TCGA-AB-2935-03A-01W-0755-09		26663484	108343032	4	1443											
FREM2	341640	genome.wustl.edu	37	13	39452970	39452970	+	Silent	SNP	C	C	T			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr13:39452970C>T	ENST00000280481.7	+	23	9078	c.8862C>T	c.(8860-8862)gaC>gaT	p.D2954D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2954					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTTAAAGGACAAAGCTCAGC	0.428																																						dbGAP											0			13											128	118	121					13																	39452970		2203	4300	6503	38350970	SO:0001819	synonymous_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8862C>T	13.37:g.39452970C>T		184	0.54	1					38350970	208	26.41	75	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	HMMPfam_Calx-beta,HMMSmart_SM00237	p.D2954	ENST00000280481.7	37	c.8862	CCDS31960.1	13																																																																																			-	NULL		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	C	NM_207361		38350970	1	no_errors	NM_207361.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	39452970	C	T	39452970	2	4	127	1	0	0	0	0	0	0	0	1	6045	477	17	2		2	FREM2	13	39452970	Silent	SNP	C	TCGA-AB-2935-03A-01W-0755-09		39452970	75716908	5	1444											
HERC2	8924	genome.wustl.edu	37	15	28389253	28389253	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr15:28389253G>T	ENST00000261609.7	-	73	11377	c.11269C>A	c.(11269-11271)Ctg>Atg	p.L3757M		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAAGCTGCCAGCGAGGCCGCA	0.517																																						dbGAP											0			15											105	96	99					15																	28389253		2203	4300	6503	26062848	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"hect domain and RLD 2"			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11269C>A	15.37:g.28389253G>T	ENSP00000261609:p.Leu3757Met	109	0	0		24	36.84	14	26062848	185	27.73	71		Missense_Mutation	SNP	HMMPfam_RCC1,PatternScan_RCC1_2,HMMPfam_ZZ,HMMSmart_SM00291,PatternScan_ZF_ZZ_1,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMPfam_Cyt-b5,superfamily_Cytochrome b5-like heme/steroid binding domain,HMMSmart_SM00706,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_MIB_HERC2,PatternScan_PROTEIN_KINASE_ATP	p.L3757M	ENST00000261609.7	37	c.11269	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740130	0.69304	.	.	ENSG00000128731	ENST00000261609	T	0.58797	0.31	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.75428	0.3848	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.76405	-0.2971	10	0.87932	D	0	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	3757	O95714	HERC2_HUMAN	M	3757	ENSP00000261609:L3757M	ENSP00000261609:L3757M	L	-	1	2	HERC2	26062848	1.000000	0.71417	0.759000	0.31340	0.120000	0.20174	6.405000	0.73272	2.783000	0.95769	0.655000	0.94253	CTG	-	NULL		0.517	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	G	NM_004667		26062848	-1	no_errors	NM_004667.4	genbank	human	validated	54_36p	missense	SNP	0.998	T	T	28389253	G	T	28389253	3	4	127	1	0	0	0	0	1	0	0	0	7058	962	34	4	3319	4	HERC2	15	28389253	Missense_Mutation	SNP	G	TCGA-AB-2935-03A-01W-0755-09		28389253	74142139	6	1445											
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152	112	126	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	254	1.93	5		14	84.95	79	7518263	321	46.47	283	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	-	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518263	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	7577538	C	T	7577538	3	4	127	1	0	0	0	0	1	0	0	0	16378	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-AB-2935-03A-01W-0755-09		7577538	73617672	7	1446											
ZNF229	7772	genome.wustl.edu	37	19	44933535	44933535	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr19:44933535G>C	ENST00000588931.1	-	6	1854	c.1421C>G	c.(1420-1422)tCc>tGc	p.S474C	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.S468C|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	474					regulation of transcription, DNA-templated (GO:0006355)|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)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCTGAGGTGGGAGCTGCAGCT	0.547																																						dbGAP											0			19											83	90	88					19																	44933535		2163	4282	6445	49625375	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"Zinc fingers, C2H2-type", "-"	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1421C>G	19.37:g.44933535G>C	ENSP00000466519:p.Ser474Cys	206	0	0		4	33.33	2	49625375	276	32.61	135	B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.S474C	ENST00000588931.1	37	c.1421	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	G	13.80	2.344295	0.41498	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.74	3.74	0.42951	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65260	0.2674	M	0.76433	2.335	0.09310	N	1	D	0.76494	0.999	D	0.65573	0.936	T	0.55535	-0.8126	8	0.87932	D	0	.	11.131	0.48347	0.0:0.1891:0.8109:0.0	.	474	Q9UJW7	ZN229_HUMAN	C	474	.	ENSP00000291187:S474C	S	-	2	0	ZNF229	49625375	0.000000	0.05858	0.003000	0.11579	0.148000	0.21650	0.660000	0.25009	1.631000	0.50456	0.609000	0.83330	TCC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.547	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	protein_coding	OTTHUMT00000460833.1	G	NM_014518		49625375	-1	no_errors	NM_014518.2	genbank	human	validated	54_36p	missense	SNP	0.205	C	C	44933535	G	C	44933535	3	2	127	1	0	0	0	0	1	0	0	0	17779	1174	41	4	1060	4	ZNF229	19	44933535	Missense_Mutation	SNP	G	TCGA-AB-2935-03A-01W-0755-09		44933535	14195448	8	1447											
RIN2	54453	genome.wustl.edu	37	20	19956215	19956215	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chr20:19956215C>T	ENST00000255006.6	+	8	1842	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	516					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GCGGATGGTCCGCAGGATCGC	0.597																																						dbGAP											0			20											82	89	87					20																	19956215		2023	4182	6205	19904215	SO:0001583	missense	0			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1693C>T	20.37:g.19956215C>T	ENSP00000255006:p.Arg565Cys	67	0	0		6	50	6	19904215	198	28.26	78	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_SM00314,HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204),superfamily_SH2 domain	p.R516C	ENST00000255006.6	37	c.1546	CCDS56182.1	20	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725826	0.48833	.	.	ENSG00000132669	ENST00000255006	T	0.09630	2.96	5.94	-0.438	0.12268	.	0.706455	0.12252	N	0.485559	T	0.16938	0.0407	L	0.57536	1.79	0.22017	N	0.99941	D	0.63880	0.993	P	0.46885	0.53	T	0.30534	-0.9975	9	.	.	.	-20.5401	17.3704	0.87376	0.7965:0.2035:0.0:0.0	.	516	Q8WYP3	RIN2_HUMAN	C	565	ENSP00000255006:R565C	.	R	+	1	0	RIN2	19904215	0.001000	0.12720	0.887000	0.34795	0.515000	0.34225	0.005000	0.13129	0.051000	0.15978	0.655000	0.94253	CGC	-	NULL		0.597	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	protein_coding	OTTHUMT00000078212.1	C			19904215	1	no_errors	NM_018993.2	genbank	human	reviewed	54_36p	missense	SNP	0.801	T	T	19956215	C	T	19956215	3	4	127	1	0	0	0	0	1	0	0	0	13372	652	23	1	1572	1	RIN2	20	19956215	Missense_Mutation	SNP	C	TCGA-AB-2935-03A-01W-0755-09		19956215	43069305	9	1448											
ZBTB33	10009	genome.wustl.edu	37	X	119387298	119387298	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2935-03A-01W-0755-09	TCGA-AB-2935-11A-01W-0755-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	a95d9260-b4d0-4b95-bfea-c605f940688c	d4bd29d6-e3ec-4007-82cf-10f0b87caaae	g.chrX:119387298A>C	ENST00000326624.2	+	2	256	c.28A>C	c.(28-30)Aca>Cca	p.T10P	ZBTB33_ENST00000557385.1_Missense_Mutation_p.T10P	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	10	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						GATTTCTGCTACAGACATTCA	0.408																																						dbGAP											0			X											103	97	99					X																	119387298		2203	4300	6503	119271326	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.28A>C	X.37:g.119387298A>C	ENSP00000314153:p.Thr10Pro	122	1.61	2		1	95	19	119271326	47	57.27	63	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.T10P	ENST00000326624.2	37	c.28	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402254	0.62288	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.12039	2.72;2.72	5.96	5.96	0.96718	BTB/POZ fold (2);	0.095841	0.64402	D	0.000001	T	0.15739	0.0379	L	0.41236	1.265	0.53688	D	0.99997	B	0.26483	0.15	B	0.30716	0.119	T	0.02202	-1.1196	10	0.87932	D	0	-13.9531	14.4615	0.67453	1.0:0.0:0.0:0.0	.	10	Q86T24	KAISO_HUMAN	P	10	ENSP00000314153:T10P;ENSP00000450969:T10P	ENSP00000314153:T10P	T	+	1	0	ZBTB33;AC002086.1	119271326	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.969000	0.70422	2.014000	0.59158	0.481000	0.45027	ACA	-	superfamily_POZ domain		0.408	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	protein_coding	OTTHUMT00000058085.2	A	NM_006777		119271326	1	no_errors	NM_006777.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	119387298	A	C	119387298	3	2	127	1	0	0	0	0	1	0	0	0	17533	391	14	5	30	5	ZBTB33	23	119387298	Missense_Mutation	SNP	A	TCGA-AB-2935-03A-01W-0755-09		119387298	35883262	10	1449											
WDR64	128025	genome.wustl.edu	37	1	241912982	241912982	+	Silent	SNP	G	G	C			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr1:241912982G>C	ENST00000366552.2	+	13	1905	c.1698G>C	c.(1696-1698)ctG>ctC	p.L566L	WDR64_ENST00000437684.2_Silent_p.L566L	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	566										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACCAGCAGCTGGTCCTGGCCT	0.507																																						dbGAP											0			1											135	133	134					1																	241912982		2203	4300	6503	239979605	SO:0001819	synonymous_variant	0			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"WD repeat domain containing"	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1698G>C	1.37:g.241912982G>C		856	0.81	7					239979605	82	41.43	58	B1ANT0|Q7Z573|Q96LY9	Silent	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.L286	ENST00000366552.2	37	c.858		1	.	.	.	.	.	.	.	.	.	.	G	0.048	-1.258393	0.01445	.	.	ENSG00000162843	ENST00000425826	.	.	.	6.06	0.689	0.18033	.	.	.	.	.	T	0.31167	0.0788	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.25502	-1.0130	4	.	.	.	-1.744	6.6105	0.22749	0.2101:0.3772:0.4127:0.0	.	.	.	.	S	45	.	.	W	+	2	0	WDR64	239979605	0.000000	0.05858	0.030000	0.17652	0.070000	0.16714	-0.029000	0.12329	0.107000	0.17824	0.655000	0.94253	TGG	-	superfamily_WD40 repeat-like		0.507	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	protein_coding		G	NM_144625		239979605	1	no_errors	NM_144625.3	genbank	human	validated	54_36p	silent	SNP	0.030	C	C	241912982	G	C	241912982	2	2	128	1	0	0	0	0	0	0	0	1	17312	1335	47	4		4	WDR64	1	241912982	Silent	SNP	G	TCGA-AB-2936-03A-01W-0745-08		241912982	7337639	1	1450											
CAMK4	814	genome.wustl.edu	37	5	110710562	110710562	+	Silent	SNP	C	C	T	rs201866448		TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr5:110710562C>T	ENST00000282356.4	+	3	653	c.255C>T	c.(253-255)atC>atT	p.I85I	CAMK4_ENST00000512453.1_Silent_p.I85I	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	85	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ACAAAAAAATCGTAAGAACTG	0.378													C|||	1	0.000199681	8e-04	0	5008	,	,		20290	0		0	False		,,,				2504	0					dbGAP											0			5											84	79	81					5																	110710562		2202	4300	6502	110738461	SO:0001819	synonymous_variant	0			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"brain Ca++-calmodulin-dependent protein kinase type IV", "calcium/calmodulin-dependent protein kinase type IV catalytic chain", "CAM kinase IV", "CAM kinase- GR"	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.255C>T	5.37:g.110710562C>T		703	1.38	10		16	0	0	110738461	70	49.64	69	D3DSZ7	Silent	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.I85	ENST00000282356.4	37	c.255	CCDS4103.1	5																																																																																			-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.378	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	protein_coding	OTTHUMT00000250719.2	C	NM_001744		110738461	1	no_errors	NM_001744.3	genbank	human	reviewed	54_36p	silent	SNP	0.982	T	T	110710562	C	T	110710562	2	4	128	1	0	0	0	0	0	0	0	1	2605	874	31	1		1	CAMK4	5	110710562	Silent	SNP	C	TCGA-AB-2936-03A-01W-0745-08		110710562	70204698	2	1451											
C7orf10	79783	genome.wustl.edu	37	7	40234648	40234648	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr7:40234648G>T	ENST00000335693.4	+	6	517	c.494G>T	c.(493-495)tGt>tTt	p.C165F	C7orf10_ENST00000401647.2_Missense_Mutation_p.C165F|C7orf10_ENST00000540834.1_Missense_Mutation_p.C158F|C7orf10_ENST00000309930.5_Missense_Mutation_p.C165F	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		165					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATCATCTATTGTTCCATCACA	0.403																																						dbGAP											0			7											270	266	268					7																	40234648		1906	4124	6030	40201173	SO:0001583	missense	0																														ENST00000335693.4:c.494G>T	7.37:g.40234648G>T	ENSP00000338475:p.Cys165Phe	562	3.05	18					40201173	70	29.7	30	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	HMMPfam_CoA_transf_3,superfamily_CoA-Trfase_fam_III	p.C128F	ENST00000335693.4	37	c.383	CCDS55105.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.2|23.2|23.2	4.382532|4.382532|4.382532	0.82792|0.82792|0.82792	.|.|.	.|.|.	ENSG00000175600|ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693;ENST00000540834|ENST00000413931|ENST00000416370	D;T;T;T|.|.	0.87179|.|.	-2.22;0.4;0.4;2.61|.|.	5.81|5.81|5.81	5.81|5.81|5.81	0.92471|0.92471|0.92471	CoA-transferase family III domain (2);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.90707|0.90707|0.90707	0.7084|0.7084|0.7084	H|H|H	0.97896|0.97896|0.97896	4.1|4.1|4.1	0.58432|0.58432|0.58432	D|D|D	0.999999|0.999999|0.999999	D;D;D|.|.	0.89917|.|.	1.0;0.999;0.999|.|.	D;D;D|.|.	0.83275|.|.	0.996;0.994;0.987|.|.	D|D|D	0.93627|0.93627|0.93627	0.6953|0.6953|0.6953	10|5|5	0.87932|.|.	D|.|.	0|.|.	-15.0272|-15.0272|-15.0272	18.8409|18.8409|18.8409	0.92183|0.92183|0.92183	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	165;165;128|.|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.|.	.;CG010_HUMAN;.|.|.	F|F|F	165;165;165;158|176|160	ENSP00000312054:C165F;ENSP00000385222:C165F;ENSP00000338475:C165F;ENSP00000445521:C158F|.|.	ENSP00000312054:C165F|.|.	C|L|V	+|+|+	2|3|1	0|2|0	C7orf10|C7orf10|C7orf10	40201173|40201173|40201173	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.729000|0.729000|0.729000	0.30791|0.30791|0.30791	0.988000|0.988000|0.988000	0.76386|0.76386|0.76386	8.009000|8.009000|8.009000	0.88606|0.88606|0.88606	2.738000|2.738000|2.738000	0.93877|0.93877|0.93877	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TGT|TTG|GTT	-	HMMPfam_CoA_transf_3,superfamily_CoA-Trfase_fam_III		0.403	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C7orf10	protein_coding	OTTHUMT00000338388.1	G			40201173	1	no_errors	NM_024728.1	genbank	human	predicted	54_36p	missense	SNP	1.000	T	T	40234648	G	T	40234648	3	4	128	1	0	0	0	0	1	0	0	0	2376	1377	48	4	405	4	C7orf10	7	40234648	Missense_Mutation	SNP	G	TCGA-AB-2936-03A-01W-0745-08		40234648	118904015	3	1452											
NRF1	4899	genome.wustl.edu	37	7	129348924	129348924	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr7:129348924C>T	ENST00000393232.1	+	6	733	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	NRF1_ENST00000393231.3_Missense_Mutation_p.R206W|NRF1_ENST00000539636.1_Missense_Mutation_p.R45W|NRF1_ENST00000393230.2_Missense_Mutation_p.R206W|NRF1_ENST00000223190.4_Missense_Mutation_p.R206W|NRF1_ENST00000311967.2_Missense_Mutation_p.R206W|NRF1_ENST00000353868.4_Missense_Mutation_p.R206W	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	206					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	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)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGCCCAGCTTCGGGCATTTAT	0.478																																						dbGAP											0			7											265	283	277					7																	129348924		2203	4300	6503	129136160	SO:0001583	missense	0			L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"alpha palindromic-binding protein"	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.616C>T	7.37:g.129348924C>T	ENSP00000376924:p.Arg206Trp	723	2.68	20		20	56.52	26	129136160	90	33.81	47	A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	HMMPfam_Nrf1_DNA-bind,HMMPfam_Nrf1_activ_bdg	p.R206W	ENST00000393232.1	37	c.616	CCDS5813.2	7	.	.	.	.	.	.	.	.	.	.	C	26.3	4.723159	0.89298	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000539636;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.84	5.84	0.93424	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.000000	0.85682	D	0.000000	T	0.80253	0.4589	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82143	-0.0603	9	0.87932	D	0	-12.677	15.5418	0.76057	0.1383:0.8617:0.0:0.0	.	206;206	Q96AN2;Q16656	.;NRF1_HUMAN	W	206;206;45;206;206;206;206;206	.	ENSP00000223190:R206W	R	+	1	2	NRF1	129136160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.657000	0.61490	2.768000	0.95171	0.650000	0.86243	CGG	-	HMMPfam_Nrf1_DNA-bind		0.478	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	protein_coding	OTTHUMT00000289813.1	C	NM_001040110		129136160	1	no_errors	NM_001040110.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	129348924	C	T	129348924	3	4	128	1	0	0	0	0	1	0	0	0	10646	875	31	1	634	1	NRF1	7	129348924	Missense_Mutation	SNP	C	TCGA-AB-2936-03A-01W-0745-08	89114276	129348924	29789739	4	1453											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	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	103	103					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	339	2.55	9		162	48.73	154	88432938	28	39.13	18	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	T	90631934	C	T	90631934	3	4	128	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2936-03A-01W-0745-08		90631934	11899458	5	1454											
ACTL9	284382	genome.wustl.edu	37	19	8808551	8808551	+	Silent	SNP	G	G	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr19:8808551G>A	ENST00000324436.3	-	1	621	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	167						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCAGCGACTCGAAGGCCACCT	0.672																																						dbGAP											0			19											44	44	44					19																	8808551		2203	4300	6503	8669551	SO:0001819	synonymous_variant	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.501C>T	19.37:g.8808551G>A		171	1.71	3					8669551	21	46.15	18	A8K893|Q6X960	Silent	SNP	PatternScan_N6_MTASE,HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain	p.F167	ENST00000324436.3	37	c.501	CCDS12207.1	19																																																																																			-	HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain		0.672	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGC33407	protein_coding	OTTHUMT00000459953.1	G	NM_178525		8669551	-1	no_errors	NM_178525.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	8808551	G	A	8808551	2	1	128	1	0	0	0	0	0	0	0	1	203	1049	37	1		1	ACTL9	19	8808551	Silent	SNP	G	TCGA-AB-2936-03A-01W-0745-08		8808551	50320432	6	1455											
COL5A3	50509	genome.wustl.edu	37	19	10088363	10088363	+	Silent	SNP	C	C	T			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr19:10088363C>T	ENST00000264828.3	-	42	3118	c.3033G>A	c.(3031-3033)gaG>gaA	p.E1011E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1011	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AAGGACCGCGCTCACCAGGGG	0.577																																						dbGAP											0			19											22	22	22					19																	10088363		2203	4300	6503	9949363	SO:0001819	synonymous_variant	0			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"Collagens"	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3033G>A	19.37:g.10088363C>T		1196	2.19	27					9949363	80	45.95	68	Q9NZQ6	Silent	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2	p.E1011	ENST00000264828.3	37	c.3033	CCDS12222.1	19																																																																																			-	NULL		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719		9949363	-1	no_errors	NM_015719.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	10088363	C	T	10088363	2	4	128	1	0	0	0	0	0	0	0	1	3698	796	28	2		2	COL5A3	19	10088363	Silent	SNP	C	TCGA-AB-2936-03A-01W-0745-08	1279812	10088363	49040620	7	1456											
RUNX1	861	genome.wustl.edu	37	21	36171607	36171607	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chr21:36171607G>A	ENST00000344691.4	-	5	2454	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R229*|RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R308*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R320*|RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R320*	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	293	Interaction with KAT6A.|Pro/Ser/Thr-rich.				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.R320*(3)		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						CTTGAGAGTCGACTGGAAAGT	0.522			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	3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	21	GRCh37	CM086912	RUNX1	M							145	134	138					21																	36171607		2203	4300	6503	35093477	SO:0001587	stop_gained	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.877C>T	21.37:g.36171607G>A	ENSP00000340690:p.Arg293*	218	0.45	1		701	28.12	275	35093477	30	26.83	11	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R320*	ENST00000344691.4	37	c.958	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	37	6.451672	0.97577	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	.	.	.	5.78	5.78	0.91487	.	0.143790	0.47455	D	0.000221	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4081	19.6065	0.95583	0.0:0.0:1.0:0.0	.	.	.	.	X	293;320;320;308;229;54;296	.	ENSP00000300305:R320X	R	-	1	2	RUNX1	35093477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.398000	0.73244	2.731000	0.93534	0.650000	0.86243	CGA	-	NULL		0.522	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35093477	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	36171607	G	A	36171607	4	1	128	1	0	0	0	0	0	1	0	0	13746	1066	37	1	492	1	RUNX1	21	36171607	Nonsense_Mutation	SNP	G	TCGA-AB-2936-03A-01W-0745-08		36171607	11958288	8	1457											
TCEAL6	158931	genome.wustl.edu	37	X	101396081	101396081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chrX:101396081C>A	ENST00000372774.3	-	3	472	c.223G>T	c.(223-225)Gag>Tag	p.E75*	TCEAL6_ENST00000372773.1_Nonsense_Mutation_p.E75*	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	75	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GGCTTGCCCTCACCTTCGGAC	0.627																																						dbGAP											0			X											111	101	105					X																	101396081		2203	4300	6503	101282737	SO:0001587	stop_gained	0			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.223G>T	X.37:g.101396081C>A	ENSP00000361860:p.Glu75*	339	2.86	10		1	0	0	101282737	82	42.36	61	Q5H9J8	Nonsense_Mutation	SNP	HMMPfam_TFA	p.E75*	ENST00000372774.3	37	c.223	CCDS43978.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.165800	0.97338	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	.	.	.	2.65	1.77	0.24775	.	0.425816	0.17371	N	0.176698	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	8.7335	0.34514	0.0:0.7683:0.2317:0.0	.	.	.	.	X	75	.	ENSP00000361859:E75X	E	-	1	0	TCEAL6	101282737	0.000000	0.05858	0.001000	0.08648	0.746000	0.42486	0.491000	0.22419	0.519000	0.28406	0.468000	0.43344	GAG	-	HMMPfam_TFA		0.627	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL6	protein_coding	OTTHUMT00000057609.1	C	NM_001006938		101282737	-1	no_errors	NM_001006938.2	genbank	human	validated	54_36p	nonsense	SNP	0.009	A	A	101396081	C	A	101396081	4	1	128	1	0	0	0	0	0	1	0	0	15672	835	29	4	332	4	TCEAL6	23	101396081	Nonsense_Mutation	SNP	C	TCGA-AB-2936-03A-01W-0745-08		101396081	53874479	9	1458											
NXF2	728343	genome.wustl.edu	37	X	101624925	101624925	+	Silent	SNP	G	G	A			TCGA-AB-2936-03A-01W-0745-08	TCGA-AB-2936-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0194977a-f658-4a23-8913-4a4797b16698	b592578a-da5c-4b13-9938-ec6c13f7ec50	g.chrX:101624925G>A	ENST00000372750.1	-	8	991	c.192C>T	c.(190-192)agC>agT	p.S64S	NXF2B_ENST00000372749.1_Silent_p.S64S|NXF2B_ENST00000412230.2_Silent_p.S64S|NXF2B_ENST00000372752.1_5'UTR|NXF2B_ENST00000457521.2_Silent_p.S64S			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	64					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TCATCTCCACGCTTCCATCAT	0.532																																						dbGAP											0			X											13	12	12					X																	101624925		734	1678	2412	101511581	SO:0001819	synonymous_variant	0				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.192C>T	X.37:g.101624925G>A		186	0.53	1					101511581	11	42.11	8	Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	HMMPfam_NTF2,HMMPfam_TAP_C,HMMSmart_TAP_C,superfamily_UBA_like,HMMPfam_Tap-RNA_bind,superfamily_SSF52058,superfamily_SSF54427,superfamily_SSF54928	p.S64	ENST00000372750.1	37	c.192	CCDS43979.1	X																																																																																			-	NULL		0.532	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	protein_coding	OTTHUMT00000058979.1	G			101511581	-1	no_errors	NM_001099686.1	genbank	human	inferred	54_36p	silent	SNP	0.000	A	A	101624925	G	A	101624925	2	1	128	1	0	0	0	0	0	0	0	1	10783	1078	38	1		1	NXF2	23	101624925	Silent	SNP	G	TCGA-AB-2936-03A-01W-0745-08	228844	101624925	53645635	10	1459											
KIT	3815	genome.wustl.edu	37	4	55599321	55599321	+	Missense_Mutation	SNP	A	A	T	rs121913507		TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr4:55599321A>T	ENST00000288135.5	+	17	2544	c.2447A>T	c.(2446-2448)gAc>gTc	p.D816V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816V(758)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCAGAGACATCAAGAAT	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	770	Substitution - Missense(769)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(745)|testis(16)|ovary(5)|skin(2)|soft_tissue(1)|genital_tract(1)	4	GRCh37	CM952169	KIT	M	rs121913507						145	146	145					4																	55599321		2203	4300	6503	55294078	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2447A>T	4.37:g.55599321A>T	ENSP00000288135:p.Asp816Val	54	3.57	2		44	52.69	49	55294078	35	44.44	28	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D816V	ENST00000288135.5	37	c.2447	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831107	0.91036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.85093	0.5618	N	0.21097	0.63	0.80722	A	1	D;D	0.71674	0.998;0.991	D;D	0.68943	0.961;0.933	D	0.88419	0.3027	9	0.87932	D	0	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	V	816;812	ENSP00000288135:D816V;ENSP00000390987:D812V	ENSP00000288135:D816V	D	+	2	0	KIT	55294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.148000	0.66965	0.477000	0.44152	GAC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	A			55294078	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	55599321	A	T	55599321	3	4	129	1	0	0	0	0	1	0	0	0	8329	275	10	5	2513	5	KIT	4	55599321	Missense_Mutation	SNP	A	TCGA-AB-2937-03A-01W-0732-08		55599321	135554955	1	1460											
TET2	54790	genome.wustl.edu	37	4	106155474	106155474	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr4:106155474delC	ENST00000540549.1	+	3	1235	c.375delC	c.(373-375)ttcfs	p.F125fs	TET2_ENST00000380013.4_Frame_Shift_Del_p.F125fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.F125fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.F125fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.F125fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.F125fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.F146fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	125					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.F125fs*3(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACGTAACTTCGGGGTAAGCC	0.418			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	4											58	57	58					4																	106155474		2203	4300	6503	106374923	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.375delC	4.37:g.106155474delC	ENSP00000442788:p.Phe125fs	0	0	0		0	75	12	106374923	1	60	3	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.F125fs	ENST00000540549.1	37	c.375	CCDS47120.1	4																																																																																			-	NULL		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106374923	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	frame_shift_del	DEL	0.600	-	-	106155474	C	-	106155474	7	5	129	1	0	1	0	1	0	0	0	0	15767	883	31	0	377	0	TET2	4	106155474	Frame_Shift_Del	DEL	C	TCGA-AB-2937-03A-01W-0732-08	50556153	106155474	84998802	2	1461											
C2	717	genome.wustl.edu	37	6	31901543	31901543	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr6:31901543C>T	ENST00000299367.5	+	4	875	c.599C>T	c.(598-600)aCg>aTg	p.T200M	C2_ENST00000452323.2_Missense_Mutation_p.T77M|CFB_ENST00000477310.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.T200M|CFB_ENST00000456570.1_Missense_Mutation_p.T138M|CFB_ENST00000556679.1_Missense_Mutation_p.T138M|C2_ENST00000442278.2_Missense_Mutation_p.T68M|C2_ENST00000469372.1_Missense_Mutation_p.R32W	NM_000063.4	NP_000054.2	P06681	CO2_HUMAN	complement component 2	200	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		TGGAGTGGAACGGAGCCCATC	0.652																																						dbGAP											0			6											66	58	61					6																	31901543		1511	2709	4220	32009522	SO:0001583	missense	0				CCDS4728.1, CCDS54991.1, CCDS56416.1, CCDS75427.1, CCDS75428.1	6p21.3	2014-09-17			ENSG00000166278	ENSG00000166278		"Complement system"	1248	protein-coding gene	gene with protein product		613927					Standard	NM_001145903		Approved		uc011hbs.1	P06681	OTTHUMG00000031190	ENST00000299367.5:c.599C>T	6.37:g.31901543C>T	ENSP00000299367:p.Thr200Met	99	1.98	2		5	0	0	32009522	15	59.46	22	B4DPF3|B4DV20|E9PFN7|O19694|Q13904	Missense_Mutation	SNP	HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Trypsin,HMMSmart_SM00020,HMMPfam_VWA,HMMSmart_SM00327,superfamily_Trypsin-like serine proteases,superfamily_Complement control module/SCR domain,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER,superfamily_vWA-like	p.T200M	ENST00000299367.5	37	c.599	CCDS4728.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.07|13.07	2.127851|2.127851	0.37533|0.37533	.|.	.|.	ENSG00000166278|ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000166278;ENSG00000243649;ENSG00000244255	ENST00000469372;ENST00000497706;ENST00000432397;ENST00000383177|ENST00000452323;ENST00000452202;ENST00000299367;ENST00000442278;ENST00000447952;ENST00000418949;ENST00000494905;ENST00000556679;ENST00000456570	D;D|T;T;T;T;T;T;T;T;T	0.91237|0.65364	-2.64;-2.81|-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.67|5.67	4.8|4.8	0.61643|0.61643	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.191814	.|0.25807	.|N	.|0.028170	T|T	0.65196|0.65196	0.2668|0.2668	M|M	0.66297|0.66297	2.02|2.02	0.23704|0.23704	N|N	0.997061|0.997061	B;B|P;D;B;D;D;P;D	0.14012|0.89917	0.009;0.004|0.495;1.0;0.328;1.0;1.0;0.923;1.0	B;B|B;D;B;D;D;P;D	0.08055|0.70716	0.003;0.001|0.126;0.97;0.176;0.97;0.97;0.553;0.963	T|T	0.61257|0.61257	-0.7099|-0.7099	8|10	.|0.54805	.|T	.|0.06	-4.2844|-4.2844	10.9748|10.9748	0.47459|0.47459	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.	32;32|138;171;77;68;68;200;200	B4DQI1;E9PDZ0|B4E1Z4;B4DV48;B4DPF3;E9PFN7;B4DV20;P06681;Q8N6L6	.;.|.;.;.;.;.;CO2_HUMAN;.	W|M	32;32;32;65|77;77;200;68;138;200;59;138;138	ENSP00000418923:R32W;ENSP00000417482:R32W|ENSP00000392322:T77M;ENSP00000406121:T77M;ENSP00000299367:T200M;ENSP00000395683:T68M;ENSP00000391354:T138M;ENSP00000406190:T200M;ENSP00000419048:T59M;ENSP00000451848:T138M;ENSP00000410815:T138M	.|ENSP00000299367:T200M	R|T	+|+	1|2	2|0	C2|CFB;C2;XXbac-BPG116M5.17	32009522|32009522	0.056000|0.056000	0.20664|0.20664	0.582000|0.582000	0.28627|0.28627	0.207000|0.207000	0.24258|0.24258	1.328000|1.328000	0.33758|0.33758	1.400000|1.400000	0.46741|0.46741	0.563000|0.563000	0.77884|0.77884	CGG|ACG	-	HMMPfam_Sushi,HMMSmart_SM00032,superfamily_Complement control module/SCR domain		0.652	C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2	protein_coding	OTTHUMT00000076379.9	C			32009522	1	no_errors	NM_000063.4	genbank	human	reviewed	54_36p	missense	SNP	0.933	T	T	31901543	C	T	31901543	3	4	129	1	0	0	0	0	1	0	0	0	2074	536	19	1	690	1	C2	6	31901543	Missense_Mutation	SNP	C	TCGA-AB-2937-03A-01W-0732-08		31901543	139213524	3	1462											
GPR115	221393	genome.wustl.edu	37	6	47681801	47681801	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr6:47681801C>T	ENST00000283303.2	+	6	1078	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	GPR115_ENST00000327753.3_Nonsense_Mutation_p.Q274*|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Nonsense_Mutation_p.Q331*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	274					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGGAATGGTACAGATTCCCAG	0.453																																					GBM(22;431 510 9010 26644 32828)	dbGAP											0			6											60	61	61					6																	47681801		2203	4300	6503	47789760	SO:0001587	stop_gained	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"-", "GPCR / Class B : Orphans"	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.820C>T	6.37:g.47681801C>T	ENSP00000283303:p.Gln274*	156	4.29	7					47789760	36	40	24	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Nonsense_Mutation	SNP	HMMPfam_7tm_2	p.Q274*	ENST00000283303.2	37	c.820	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	C	16.87	3.243162	0.58995	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	.	.	.	5.19	2.26	0.28386	.	0.419896	0.22925	N	0.053963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-18.6662	9.7384	0.40401	0.0:0.2893:0.5734:0.1373	.	.	.	.	X	331;274;274	.	ENSP00000283303:Q274X	Q	+	1	0	GPR115	47789760	1.000000	0.71417	0.891000	0.34965	0.025000	0.11179	1.046000	0.30354	1.314000	0.45095	-0.165000	0.13383	CAG	-	NULL		0.453	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	protein_coding	OTTHUMT00000040819.2	C	NM_153838		47789760	1	no_errors	NM_153838.3	genbank	human	validated	54_36p	nonsense	SNP	0.042	T	T	47681801	C	T	47681801	4	4	129	1	0	0	0	0	0	1	0	0	6632	479	17	2	838	2	GPR115	6	47681801	Nonsense_Mutation	SNP	C	TCGA-AB-2937-03A-01W-0732-08	15780258	47681801	123433266	4	1463											
WBSCR17	64409	genome.wustl.edu	37	7	71130529	71130529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr7:71130529G>A	ENST00000333538.5	+	7	1848	c.1214G>A	c.(1213-1215)tGg>tAg	p.W405*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	405					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTGAGGTCTGGATGGACGAT	0.527																																						dbGAP											0			7											122	101	108					7																	71130529		2203	4300	6503	70768465	SO:0001587	stop_gained	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"Glycosyltransferase family 2 domain containing"	16347	protein-coding gene	gene with protein product	"polypeptide N-acetylgalactosaminyltransferase-like 3", "polypeptide GalNAc transferase 3"	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1214G>A	7.37:g.71130529G>A	ENSP00000329654:p.Trp405*	259	3.36	9					70768465	49	42.35	36	Q8NFV9|Q9NTA8	Nonsense_Mutation	SNP	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases	p.W405*	ENST00000333538.5	37	c.1214	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.334671	0.99548	.	.	ENSG00000185274	ENST00000333538	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.147	0.93472	0.0:0.0:1.0:0.0	.	.	.	.	X	405	.	ENSP00000329654:W405X	W	+	2	0	WBSCR17	70768465	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.770000	0.95276	0.563000	0.77884	TGG	-	superfamily_Nucleotide-diphospho-sugar transferases		0.527	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	protein_coding	OTTHUMT00000252006.1	G	NM_022479		70768465	1	no_errors	NM_022479.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	71130529	G	A	71130529	4	1	129	1	0	0	0	0	0	1	0	0	17261	1357	47	2	1240	2	WBSCR17	7	71130529	Nonsense_Mutation	SNP	G	TCGA-AB-2937-03A-01W-0732-08		71130529	88008134	5	1464											
GSTK1	373156	genome.wustl.edu	37	7	142960614	142960614	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr7:142960614C>A	ENST00000358406.5	+	1	79	c.8C>A	c.(7-9)cCc>cAc	p.P3H	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000479303.1_Missense_Mutation_p.P3H|GSTK1_ENST00000443571.2_Missense_Mutation_p.P3H|GSTK1_ENST00000409500.3_Missense_Mutation_p.P3H|GSTK1_ENST00000494735.1_3'UTR	NM_015917.2	NP_057001.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	3					epithelial cell differentiation (GO:0030855)|glutathione metabolic process (GO:0006749)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|peroxisome (GO:0005777)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|protein disulfide oxidoreductase activity (GO:0015035)|receptor binding (GO:0005102)			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AGCATGGGGCCCCTGCCGCGC	0.692																																						dbGAP											0			7											47	52	50					7																	142960614		2203	4299	6502	142670736	SO:0001583	missense	0				CCDS5877.1, CCDS47730.1, CCDS47731.1, CCDS47732.1	7q34	2012-06-21			ENSG00000197448	ENSG00000197448	2.5.1.18	"Glutathione S-transferases / Mitochondrial (kappa)"	16906	protein-coding gene	gene with protein product		602321				12720545, 14742434	Standard	NM_015917		Approved	GST13	uc003wcj.3	Q9Y2Q3	OTTHUMG00000152637	ENST00000358406.5:c.8C>A	7.37:g.142960614C>A	ENSP00000351181:p.Pro3His	103	1.9	2		156	39.77	103	142670736	24	46.67	21	B4DIH1|B4DSY2|Q6P4H0|Q7Z520|Q9P1S4	Missense_Mutation	SNP	HMMPfam_DSBA,superfamily_Thioredoxin-like	p.P3H	ENST00000358406.5	37	c.8	CCDS5877.1	7	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643001	0.29246	.	.	ENSG00000197448	ENST00000409500;ENST00000443571;ENST00000358406;ENST00000479303	.	.	.	5.49	4.57	0.56435	Thioredoxin-like fold (1);	0.720502	0.13751	N	0.365258	T	0.47322	0.1439	N	0.25647	0.755	0.09310	N	1	P;P;D;B	0.63880	0.525;0.606;0.993;0.441	B;P;P;B	0.59171	0.301;0.519;0.853;0.15	T	0.36962	-0.9726	9	0.87932	D	0	-11.6129	13.1552	0.59514	0.0:0.8251:0.1749:0.0	.	3;3;3;3	Q9Y2Q3-3;Q9Y2Q3-4;Q9Y2Q3-2;Q9Y2Q3	.;.;.;GSTK1_HUMAN	H	3	.	ENSP00000351181:P3H	P	+	2	0	GSTK1	142670736	0.001000	0.12720	0.590000	0.28732	0.075000	0.17131	0.487000	0.22356	2.591000	0.87537	0.585000	0.79938	CCC	-	superfamily_Thioredoxin-like		0.692	GSTK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTK1	protein_coding	OTTHUMT00000327091.1	C	NM_015917		142670736	1	no_errors	NM_015917.1	genbank	human	reviewed	54_36p	missense	SNP	0.294	A	A	142960614	C	A	142960614	3	1	129	1	0	0	0	0	1	0	0	0	6836	623	22	4	10	4	GSTK1	7	142960614	Missense_Mutation	SNP	C	TCGA-AB-2937-03A-01W-0732-08	71830085	142960614	16178049	6	1465											
ZFHX4	79776	genome.wustl.edu	37	8	77764108	77764108	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr8:77764108G>C	ENST00000521891.2	+	10	5399	c.4951G>C	c.(4951-4953)Gat>Cat	p.D1651H	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1606H|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1625H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1606H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1606	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGGATGTTAGATTCCATGAG	0.473										HNSCC(33;0.089)																												dbGAP											0			8											76	75	75					8																	77764108		1928	4130	6058	77926663	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"Homeoboxes / ZF class"	30939	protein-coding gene	gene with protein product		606940	"zinc finger homeodomain 4"			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4951G>C	8.37:g.77764108G>C	ENSP00000430497:p.Asp1651His	290	1.69	5					77926663	73	41.13	51	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,PatternScan_SOMATOTROPIN_2,superfamily_C2H2 and C2HC zinc fingers	p.D1606H	ENST00000521891.2	37	c.4816	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368006	0.24771	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50548	0.74;0.79;0.76;0.75	4.41	4.41	0.53225	.	0.700188	0.12164	U	0.493663	T	0.49932	0.1586	L	0.47716	1.5	0.58432	D	0.999999	P;P;P	0.40083	0.577;0.702;0.702	B;B;B	0.42798	0.224;0.398;0.398	T	0.51803	-0.8659	10	0.45353	T	0.12	.	17.537	0.87834	0.0:0.0:1.0:0.0	.	1606;1606;1651	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	H	1651;1651;1606;1606;1625	ENSP00000430497:D1651H;ENSP00000399605:D1606H;ENSP00000050961:D1606H;ENSP00000430848:D1625H	ENSP00000050961:D1606H	D	+	1	0	ZFHX4	77926663	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	9.513000	0.98010	2.456000	0.83038	0.542000	0.68232	GAT	-	NULL		0.473	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77926663	1	no_errors	NM_024721.3	genbank	human	validated	54_36p	missense	SNP	0.990	C	C	77764108	G	C	77764108	3	2	129	1	0	0	0	0	1	0	0	0	17632	942	33	4	4985	4	ZFHX4	8	77764108	Missense_Mutation	SNP	G	TCGA-AB-2937-03A-01W-0732-08		77764108	68599914	7	1466											
HNRNPK	3190	genome.wustl.edu	37	9	86591908	86591909	+	Splice_Site	INS	-	-	T			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr9:86591908_86591909insT	ENST00000376264.2	-	5	472		c.e5+1		HNRNPK_ENST00000376263.3_Splice_Site|HNRNPK_ENST00000351839.3_Splice_Site|HNRNPK_ENST00000376281.4_Splice_Site|HNRNPK_ENST00000360384.5_Splice_Site|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTTAATACTTACGTCTGTACGG	0.347																																						dbGAP											0			9																																								85781729	SO:0001630	splice_region_variant	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.213+1->A	9.37:g.86591908_86591909insT		55	0	0		15	68.75	33	85781728	36	35.71	20	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Splice_Site	INS	-	e3+1	ENST00000376264.2	37	c.213+1_213+1	CCDS6667.1	9																																																																																			-	-		0.347	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	protein_coding	OTTHUMT00000052846.2	-		Intron	85781729	-1	no_errors	NM_002140.3	genbank	human	reviewed	54_36p	splice_site_ins	INS	1.000:1.000	T	T	86591909	-	T	86591908	8	5	129	1	0	1	1	0	0	0	1	0	7269	405	14	0	1266	0	HNRNPK	9	86591908	Splice_Site	INS	-	TCGA-AB-2937-03A-01W-0732-08		86591908	54621523	8	1467	7	2									
HNRNPK	3190	genome.wustl.edu	37	9	86591909	86591910	+	Splice_Site	INS	-	-	TA			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	-	-	-	TA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr9:86591909_86591910insTA	ENST00000376264.2	-	5	471_472		c.e5+1		HNRNPK_ENST00000376263.3_Splice_Site|HNRNPK_ENST00000351839.3_Splice_Site|HNRNPK_ENST00000376281.4_Splice_Site|HNRNPK_ENST00000360384.5_Splice_Site|RP11-575L7.8_ENST00000448389.1_RNA	NM_002140.3|NM_031262.2	NP_002131.2|NP_112552.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|regulation of low-density lipoprotein particle clearance (GO:0010988)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|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)|single-stranded DNA binding (GO:0003697)			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TTAATACTTACGTCTGTACGGA	0.342																																						dbGAP											0			9																																								85781730	SO:0001630	splice_region_variant	0				CCDS6667.1, CCDS6668.1	9q21.32-q21.33	2011-10-24		2008-04-18	ENSG00000165119	ENSG00000165119			5044	protein-coding gene	gene with protein product	"transformation upregulated nuclear protein"	600712		HNRPK		8107114	Standard	NM_031263		Approved	CSBP, TUNP	uc004anf.4	P61978	OTTHUMG00000020107	ENST00000376264.2:c.213+1->TA	9.37:g.86591909_86591910insTA		56	0	0		52	0	0	85781729	36	35.71	20	Q07244|Q15671|Q59F98|Q5T6W4|Q60577|Q922Y7|Q96J62	Frame_Shift_Ins	INS	HMMSmart_SM00322,HMMPfam_ROKNT,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)	p.N72fs	ENST00000376264.2	37	c.214_213	CCDS6667.1	9																																																																																			-	HMMSmart_SM00322,HMMPfam_KH_1,superfamily_Eukaryotic type KH-domain (KH-domain type I)		0.342	HNRNPK-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	HNRNPK	protein_coding	OTTHUMT00000052846.2	-		Intron	85781730	-1	no_errors	NM_002140.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	TA	TA	86591910	-	TA	86591909	8	5	129	1	0	1	1	0	0	0	1	0	7269	550	19	0	1267	0	HNRNPK	9	86591909	Splice_Site	INS	-	TCGA-AB-2937-03A-01W-0732-08	1	86591909	54621522	9	1468	7	2									
TMTC4	84899	genome.wustl.edu	37	13	101277848	101277848	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr13:101277848G>A	ENST00000376234.3	-	14	1909	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.R593W|TMTC4_ENST00000328767.5_Missense_Mutation_p.R463W	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	574						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATTGCTGTCCGGTAACTTTGC	0.512																																						dbGAP											0			13											136	115	122					13																	101277848		2203	4300	6503	100075849	SO:0001583	missense	0				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"Tetratricopeptide (TTC) repeat domain containing"	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1720C>T	13.37:g.101277848G>A	ENSP00000365408:p.Arg574Trp	282	5.69	17		9	50	9	100075849	65	39.25	42	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMPfam_TPR_2,HMMPfam_DUF1736,HMMSmart_SM00028,superfamily_TPR-like	p.R593W	ENST00000376234.3	37	c.1777	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909053	0.52439	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.61274	0.12;0.12;0.12	5.6	3.49	0.39957	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.359311	0.34291	N	0.004097	T	0.59335	0.2186	M	0.90922	3.16	0.33634	D	0.606426	B;B;B;B	0.26483	0.014;0.021;0.003;0.15	B;B;B;B	0.25884	0.015;0.005;0.009;0.064	T	0.66555	-0.5894	10	0.40728	T	0.16	.	4.6205	0.12447	0.4176:0.0:0.5824:0.0	.	463;574;574;593	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	W	574;593;463	ENSP00000365408:R574W;ENSP00000343871:R593W;ENSP00000365409:R463W	ENSP00000365409:R463W	R	-	1	2	TMTC4	100075849	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.950000	0.56676	1.496000	0.48567	0.650000	0.86243	CGG	-	HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like		0.512	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	protein_coding	OTTHUMT00000045649.2	G	NM_032813		100075849	-1	no_errors	NM_032813.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	101277848	G	A	101277848	3	1	129	1	0	0	0	0	1	0	0	0	16260	1115	39	1	525	1	TMTC4	13	101277848	Missense_Mutation	SNP	G	TCGA-AB-2937-03A-01W-0732-08		101277848	13892030	10	1469											
DNAH9	1770	genome.wustl.edu	37	17	11554599	11554599	+	Missense_Mutation	SNP	C	C	T	rs137877445		TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr17:11554599C>T	ENST00000262442.4	+	13	2379	c.2311C>T	c.(2311-2313)Cgc>Tgc	p.R771C	DNAH9_ENST00000454412.2_Missense_Mutation_p.R771C	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	771	Stem. {ECO:0000250}.		R -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATTGATCTCCGCCTCAGAGC	0.418													C|||	1	0.000199681	0	0	5008	,	,		18368	0		0	False		,,,				2504	0.001					dbGAP											0			17						C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	62	67	65		2311	-10.7	0	17	dbSNP_134	65	0,8600		0,0,4300	yes	missense	DNAH9	NM_001372.3	180	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	771/4487	11554599	6,13000	2203	4300	6503	11495324	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2311C>T	17.37:g.11554599C>T	ENSP00000262442:p.Arg771Cys	148	2.63	4					11495324	31	48.33	29	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R771C	ENST00000262442.4	37	c.2311	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	5.071	0.198725	0.09652	0.001362	0.0	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.55760	0.5;0.5	5.34	-10.7	0.00240	Dynein heavy chain, domain-1 (1);	1.127050	0.06456	N	0.728642	T	0.23649	0.0572	N	0.04880	-0.145	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.30060	-0.9991	10	0.46703	T	0.11	.	6.9739	0.24664	0.0766:0.4566:0.0716:0.3952	.	771	Q9NYC9	DYH9_HUMAN	C	771	ENSP00000262442:R771C;ENSP00000414874:R771C	ENSP00000262442:R771C	R	+	1	0	DNAH9	11495324	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-1.337000	0.02657	-1.952000	0.01027	-0.743000	0.03520	CGC	-	HMMPfam_DHC_N1		0.418	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11495324	1	no_errors	NM_001372.3	genbank	human	reviewed	54_36p	missense	SNP	0.002	T	T	11554599	C	T	11554599	3	4	129	1	0	0	0	0	1	0	0	0	4608	652	23	1	2361	1	DNAH9	17	11554599	Missense_Mutation	SNP	C	TCGA-AB-2937-03A-01W-0732-08		11554599	69640611	11	1470											
RNF213	57674	genome.wustl.edu	37	17	78321433	78321433	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2937-03A-01W-0732-08	TCGA-AB-2937-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d17268d0-1552-418e-9118-b9b313b54d37	d44fcf31-c277-461d-bdab-b952d2e14bb0	g.chr17:78321433G>C	ENST00000582970.1	+	29	9441	c.9298G>C	c.(9298-9300)Gtg>Ctg	p.V3100L	RNF213_ENST00000336301.6_Missense_Mutation_p.V1173L|RNF213_ENST00000508628.2_Missense_Mutation_p.V3149L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3100					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGCAAGATGGTGTTGCTTCT	0.517																																						dbGAP											0			17											94	91	92					17																	78321433		2203	4300	6503	75936028	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"RING-type (C3HC4) zinc fingers"	14539	protein-coding gene	gene with protein product		613768	"chromosome 17 open reading frame 27", "KIAA1618", "moyamoya disease 2", "Moyamoya disease 2"	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9298G>C	17.37:g.78321433G>C	ENSP00000464087:p.Val3100Leu	65	2.99	2		40	43.66	31	75936028	22	31.25	10	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	HMMSmart_SM00184,HMMSmart_SM00382,HMMPfam_zf-C3HC4,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_RING/U-box	p.V1173L	ENST00000582970.1	37	c.3517	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064904	0.36470	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.41065	1.01	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.49321	0.1550	M	0.62266	1.93	0.34149	D	0.667254	P	0.42827	0.791	P	0.44921	0.464	T	0.61372	-0.7076	10	0.37606	T	0.19	.	18.9568	0.92661	0.0:0.0:1.0:0.0	.	1173	Q63HN8	RN213_HUMAN	L	3100;3149;1173	ENSP00000338218:V1173L	ENSP00000338218:V1173L	V	+	1	0	RNF213	75936028	1.000000	0.71417	0.989000	0.46669	0.738000	0.42128	6.495000	0.73665	2.542000	0.85734	0.563000	0.77884	GTG	-	NULL		0.517	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914		75936028	1	no_errors	NM_020914.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	78321433	G	C	78321433	3	2	129	1	0	0	0	0	1	0	0	0	13477	1261	44	4	9727	4	RNF213	17	78321433	Missense_Mutation	SNP	G	TCGA-AB-2937-03A-01W-0732-08	66766834	78321433	2873777	12	1471											
HDGF	3068	genome.wustl.edu	37	1	156713596	156713596	+	Silent	SNP	C	C	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr1:156713596C>T	ENST00000357325.5	-	5	878	c.564G>A	c.(562-564)gaG>gaA	p.E188E	HDGF_ENST00000416666.2_Silent_p.E156E|MRPL24_ENST00000368211.4_5'Flank|HDGF_ENST00000537739.1_Silent_p.E188E|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Silent_p.E204E|MRPL24_ENST00000361531.2_5'Flank|HDGF_ENST00000368209.5_Silent_p.E181E	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	188	Glu-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GAAGGGGCCTCTCAACCTCCA	0.587																																						dbGAP											0			1											48	47	47					1																	156713596		2203	4300	6503	154980220	SO:0001819	synonymous_variant	0			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"high-mobility group protein 1-like"	600339	"hepatoma-derived growth factor (high-mobility group protein 1-like)"			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.564G>A	1.37:g.156713596C>T		254	0	0		268	55.18	330	154980220	110	22.07	32	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Silent	SNP	HMMPfam_PWWP,HMMSmart_PWWP,superfamily_SSF63748	p.E188	ENST00000357325.5	37	c.564	CCDS1156.1	1																																																																																			-	NULL		0.587	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	protein_coding	OTTHUMT00000098946.1	C	NM_004494		154980220	-1	no_errors	NM_004494.1	genbank	human	reviewed	54_36p	silent	SNP	0.286	T	T	156713596	C	T	156713596	2	4	130	1	0	0	0	0	0	0	0	1	7018	912	32	2		2	HDGF	1	156713596	Silent	SNP	C	TCGA-AB-2938-03A-01W-0732-08		156713596	92537025	1	1472											
DNMT3A	1788	genome.wustl.edu	37	2	25470531	25470531	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	T	T	T	-	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr2:25470531delT	ENST00000264709.3	-	8	1280	c.943delA	c.(943-945)atgfs	p.M315fs	DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.M315fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.M92fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.M126fs	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	315	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.M315fs*1(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCCCGTCATCCACCAAGAC	0.637			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	2											94	97	96					2																	25470531		2203	4300	6503	25324035	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.943delA	2.37:g.25470531delT	ENSP00000264709:p.Met315fs	31	0	0		7	12.5	1	25324035	26	23.53	8	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.M315fs	ENST00000264709.3	37	c.943	CCDS33157.1	2																																																																																			-	HMMPfam_PWWP,HMMSmart_SM00293,superfamily_Tudor/PWWP/MBT		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	T	NM_022552		25324035	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	25470531	T	-	25470531	7	5	130	1	0	1	0	1	0	0	0	0	4676	1435	50	0	1859	0	DNMT3A	2	25470531	Frame_Shift_Del	DEL	T	TCGA-AB-2938-03A-01W-0732-08		25470531	217728842	2	1473											
PIK3CB	5291	genome.wustl.edu	37	3	138474789	138474789	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr3:138474789C>T	ENST00000477593.1	-	3	277	c.204G>A	c.(202-204)atG>atA	p.M68I	PIK3CB_ENST00000289153.2_Missense_Mutation_p.M68I			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	68	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GGAGGTTGAACATTGGGTAAT	0.368																																						dbGAP											0			3											102	101	102					3																	138474789		2203	4300	6503	139957479	SO:0001583	missense	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"phosphoinositide-3-kinase, catalytic, beta polypeptide"	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.204G>A	3.37:g.138474789C>T	ENSP00000418143:p.Met68Ile	78	0	0		106	49.28	103	139957479	104	27.59	40	D3DNF0|Q24JU2	Missense_Mutation	SNP	HMMPfam_PI3K_rbd,HMMSmart_PI3K_rbd,HMMPfam_PI3_PI4_kinase,HMMSmart_PI3Kc,HMMPfam_PI3Ka,HMMSmart_PI3Ka,HMMPfam_PI3K_C2,HMMSmart_PI3K_C2,HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B,superfamily_C2_CaLB,superfamily_Kinase_like,superfamily_ARM-type_fold,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_SSF54236	p.M68I	ENST00000477593.1	37	c.204	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545999	0.45383	.	.	ENSG00000051382	ENST00000477593;ENST00000289153;ENST00000483968;ENST00000461451	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.22	4.33	0.51752	Phosphatidylinositol 3-kinase, p85-binding (2);	0.116289	0.64402	D	0.000015	T	0.59128	0.2171	N	0.22421	0.69	0.80722	D	1	B	0.16802	0.019	B	0.19946	0.027	T	0.55792	-0.8085	10	0.46703	T	0.11	-14.7719	15.4405	0.75178	0.0:0.7207:0.2793:0.0	.	68	P42338	PK3CB_HUMAN	I	68	ENSP00000418143:M68I;ENSP00000289153:M68I;ENSP00000419857:M68I;ENSP00000420399:M68I	ENSP00000289153:M68I	M	-	3	0	PIK3CB	139957479	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.764000	0.38471	1.288000	0.44600	0.585000	0.79938	ATG	-	HMMPfam_PI3K_p85B,HMMSmart_PI3K_p85B		0.368	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	protein_coding	OTTHUMT00000358019.1	C			139957479	-1	no_errors	NM_006219.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	138474789	C	T	138474789	3	4	130	1	0	0	0	0	1	0	0	0	11914	478	17	2	3090	2	PIK3CB	3	138474789	Missense_Mutation	SNP	C	TCGA-AB-2938-03A-01W-0732-08		138474789	59547641	3	1474											
ZNF827	152485	genome.wustl.edu	37	4	146807298	146807298	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr4:146807298delG	ENST00000508784.1	-	4	1506	c.1279delC	c.(1279-1281)cagfs	p.Q427fs	ZNF827_ENST00000379448.4_Frame_Shift_Del_p.Q427fs|ZNF827_ENST00000513320.1_Frame_Shift_Del_p.Q77fs			Q17R98	ZN827_HUMAN	zinc finger protein 827	427					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCCCGATCCTGGTGCTGATGA	0.498																																						dbGAP											0			4											67	59	62					4																	146807298		2203	4300	6503	147026748	SO:0001589	frameshift_variant	0			AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"Zinc fingers, C2H2-type"	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.1279delC	4.37:g.146807298delG	ENSP00000421863:p.Gln427fs	97	0	0		10	0	0	147026748	82	28.21	33	B7ZL52|Q7Z4S7|Q8N279	Frame_Shift_Del	DEL	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.Q427fs	ENST00000508784.1	37	c.1279		4																																																																																			-	superfamily_SSF57667		0.498	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	protein_coding	OTTHUMT00000364654.2	G	NM_178835		147026748	-1	no_errors	NM_178835.3	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-	-	146807298	G	-	146807298	7	5	130	1	0	1	0	1	0	0	0	0	18177	1357	47	0	1994	0	ZNF827	4	146807298	Frame_Shift_Del	DEL	G	TCGA-AB-2938-03A-01W-0732-08		146807298	44346978	4	1475											
SORBS2	8470	genome.wustl.edu	37	4	186544675	186544675	+	Silent	SNP	G	G	A			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr4:186544675G>A	ENST00000284776.7	-	13	2405	c.1896C>T	c.(1894-1896)tcC>tcT	p.S632S	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.S536S|SORBS2_ENST00000355634.5_Silent_p.S732S|SORBS2_ENST00000431808.1_Silent_p.S632S|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	632					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AAAAGCTTTCGGAGGATGTGA	0.557																																					Esophageal Squamous(153;41 2433 9491 36028)	dbGAP											0			4											55	51	52					4																	186544675		2203	4300	6503	186781669	SO:0001819	synonymous_variant	0				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"Arg/Abl interacting protein"					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1896C>T	4.37:g.186544675G>A		42	0	0		0	0	0	186781669	38	26.92	14	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_Sorb,HMMSmart_SM00459,PatternScan_ZINC_FINGER_C2H2_1	p.S632	ENST00000284776.7	37	c.1896	CCDS3845.1	4																																																																																			-	NULL		0.557	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	G	NM_003603		186781669	-1	no_errors	NM_021069.1	genbank	human	reviewed	54_36p	silent	SNP	0.811	A	A	186544675	G	A	186544675	2	1	130	1	0	0	0	0	0	0	0	1	14928	1103	39	1		1	SORBS2	4	186544675	Silent	SNP	G	TCGA-AB-2938-03A-01W-0732-08	39737377	186544675	4609601	5	1476											
VARS2	57176	genome.wustl.edu	37	6	30887907	30887907	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr6:30887907G>A	ENST00000321897.5	+	12	1839	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Missense_Mutation_p.E403K|VARS2_ENST00000542001.1_Missense_Mutation_p.E263K|VARS2_ENST00000541562.1_Missense_Mutation_p.E433K			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	403					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGCCGATGCTGAGATGGGGGC	0.587																																						dbGAP											0			6											77	72	74					6																	30887907		1510	2708	4218	30995886	SO:0001583	missense	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"Aminoacyl tRNA synthetases / Class I"	21642	protein-coding gene	gene with protein product	"valine tRNA ligase 2, mitochondrial"	612802	"valyl-tRNA synthetase 2-like", "valyl-tRNA synthetase like", "valyl-tRNA synthetase 2, mitochondrial (putative)"	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1207G>A	6.37:g.30887907G>A	ENSP00000316092:p.Glu403Lys	75	0	0		13	23.53	4	30995886	56	25.33	19	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	PatternScan_AA_TRNA_LIGASE_I,HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1,superfamily_Nucleotidylyl transferase	p.E403K	ENST00000321897.5	37	c.1207	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240452	0.79912	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.81	4.81	0.61882	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.133751	0.50627	D	0.000111	T	0.53351	0.1791	M	0.83118	2.625	0.39845	D	0.973166	D;D;P	0.57257	0.979;0.973;0.886	D;P;P	0.62955	0.909;0.885;0.457	T	0.62793	-0.6779	10	0.87932	D	0	-23.4448	15.3984	0.74816	0.0:0.0:1.0:0.0	.	401;433;403	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	K	403;403;263;433	ENSP00000316092:E403K;ENSP00000394802:E403K;ENSP00000438200:E263K;ENSP00000441000:E433K	ENSP00000316092:E403K	E	+	1	0	VARS2	30995886	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.966000	0.70395	2.222000	0.72286	0.462000	0.41574	GAG	-	HMMPfam_tRNA-synt_1,superfamily_ValRS/IleRS/LeuRS editing domain,superfamily_Nucleotidylyl transferase		0.587	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	protein_coding	OTTHUMT00000076566.2	G	NM_020442		30995886	1	no_errors	NM_020442.3	genbank	human	provisional	54_36p	missense	SNP	0.997	A	A	30887907	G	A	30887907	3	1	130	1	0	0	0	0	1	0	0	0	17121	1291	45	2	1347	2	VARS2	6	30887907	Missense_Mutation	SNP	G	TCGA-AB-2938-03A-01W-0732-08		30887907	140227160	6	1477											
TTBK1	84630	genome.wustl.edu	37	6	43223370	43223370	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr6:43223370G>T	ENST00000259750.4	+	8	806	c.723G>T	c.(721-723)aaG>aaT	p.K241N	TTBK1_ENST00000304139.5_Missense_Mutation_p.K190N	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCTGGAGGAAGATCAAGGACA	0.637																																						dbGAP											0			6											55	52	53					6																	43223370		2203	4300	6503	43331348	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.723G>T	6.37:g.43223370G>T	ENSP00000259750:p.Lys241Asn	97	0	0					43331348	38	20.83	10	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.K241N	ENST00000259750.4	37	c.723	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279209	0.40294	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.18810	2.19	4.85	3.05	0.35203	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	L	0.27944	0.81	0.45403	D	0.998385	D	0.89917	1.0	D	0.91635	0.999	T	0.03025	-1.1081	10	0.66056	D	0.02	.	7.258	0.26187	0.2731:0.0:0.7269:0.0	.	241	Q5TCY1	TTBK1_HUMAN	N	190;241;190	ENSP00000259750:K241N	ENSP00000259750:K241N	K	+	3	2	TTBK1	43331348	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.334000	0.43920	1.051000	0.40369	0.563000	0.77884	AAG	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like)		0.637	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	protein_coding	OTTHUMT00000040584.3	G			43331348	1	no_errors	NM_032538.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	43223370	G	T	43223370	3	4	130	1	0	0	0	0	1	0	0	0	16673	933	33	4	749	4	TTBK1	6	43223370	Missense_Mutation	SNP	G	TCGA-AB-2938-03A-01W-0732-08	12335463	43223370	127891697	7	1478											
C7orf28A	51622	genome.wustl.edu	37	7	5942327	5942327	+	Silent	SNP	C	C	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr7:5942327C>T	ENST00000325974.6	+	6	540	c.474C>T	c.(472-474)gaC>gaT	p.D158D	CCZ1_ENST00000537980.1_Silent_p.D15D	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	158				LKAMEDGGVK -> PESHGRRRVQ (in Ref. 1; AAD34038). {ECO:0000305}.		lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						CCATGGAAGACGGAGGCGTCA	0.338																																						dbGAP											0			7											41	44	43					7																	5942327		2195	4291	6486	5908853	SO:0001819	synonymous_variant	0			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"chromosome 7 open reading frame 28A"	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.474C>T	7.37:g.5942327C>T		37	0	0		13	7.14	1	5908853	72	21.74	20	A2RU45|O95766|Q9UG65|Q9Y359	Silent	SNP	HMMPfam_DUF2049	p.D158	ENST00000325974.6	37	c.474	CCDS34597.1	7																																																																																			-	HMMPfam_DUF2049		0.338	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf28A	protein_coding	OTTHUMT00000340391.1	C	NM_015622		5908853	1	no_errors	NM_015622.5	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	5942327	C	T	5942327	2	4	130	1	0	0	0	0	0	0	0	1	2383	535	19	1		1	C7orf28A	7	5942327	Silent	SNP	C	TCGA-AB-2938-03A-01W-0732-08		5942327	153196336	8	1479											
CUL1	8454	genome.wustl.edu	37	7	148457522	148457522	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr7:148457522G>T	ENST00000325222.4	+	7	1002	c.723G>T	c.(721-723)gaG>gaT	p.E241D	CUL1_ENST00000602748.1_Missense_Mutation_p.E241D|CUL1_ENST00000409469.1_Missense_Mutation_p.E241D	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	241					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CTGACACAGAGAGATTTTATA	0.358																																						dbGAP											0			7											127	144	138					7																	148457522		2203	4300	6503	148088455	SO:0001583	missense	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.723G>T	7.37:g.148457522G>T	ENSP00000326804:p.Glu241Asp	53	0	0		14	44	11	148088455	49	35.53	27	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_"Winged helix" DNA-binding domain	p.E241D	ENST00000325222.4	37	c.723	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801107	0.70567	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74632	-0.86;-0.86	4.84	1.49	0.22878	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79106	0.4390	M	0.77712	2.385	0.58432	D	0.999996	P	0.46512	0.879	P	0.56042	0.79	T	0.74266	-0.3721	10	0.27785	T	0.31	-1.3732	7.6145	0.28150	0.4062:0.0:0.5938:0.0	.	241	Q13616	CUL1_HUMAN	D	241;241;199;168	ENSP00000387160:E241D;ENSP00000326804:E241D	ENSP00000326804:E241D	E	+	3	2	CUL1	148088455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.562000	0.36353	0.564000	0.29238	0.585000	0.79938	GAG	-	HMMPfam_Cullin,superfamily_Cullin repeat		0.358	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148088455	1	no_errors	NM_003592.2	genbank	human	validated	54_36p	missense	SNP	0.997	T	T	148457522	G	T	148457522	3	4	130	1	0	0	0	0	1	0	0	0	4054	933	33	4	745	4	CUL1	7	148457522	Missense_Mutation	SNP	G	TCGA-AB-2938-03A-01W-0732-08	142515195	148457522	10681141	9	1480											
DLC1	10395	genome.wustl.edu	37	8	12952666	12952666	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr8:12952666G>A	ENST00000276297.4	-	11	3665	c.3256C>T	c.(3256-3258)Cgc>Tgc	p.R1086C	DLC1_ENST00000512044.2_Missense_Mutation_p.R683C|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.R575C|DLC1_ENST00000358919.2_Missense_Mutation_p.R649C	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1086	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGTCCTGTGCGCTGCACGTTG	0.572																																						dbGAP											0			8											138	107	117					8																	12952666		2203	4300	6503	12997037	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"Rho GTPase activating proteins", "StAR-related lipid transfer (START) domain containing"	2897	protein-coding gene	gene with protein product	"StAR-related lipid transfer (START) domain containing 12"	604258	"deleted in liver cancer 1"			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3256C>T	8.37:g.12952666G>A	ENSP00000276297:p.Arg1086Cys	107	0	0		109	46.34	95	12997037	51	33.77	26	B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_START,HMMSmart_SM00234,superfamily_GTPase activation domain GAP,HMMPfam_SAM_2,superfamily_Bet v1-like	p.R1086C	ENST00000276297.4	37	c.3256	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	22.8	4.334804	0.81801	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.97	4.97	0.65823	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.78836	0.4346	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	0.968;1.0;1.0	P;D;D	0.81914	0.531;0.994;0.995	D	0.85289	0.1066	10	0.87932	D	0	.	18.8143	0.92071	0.0:0.0:1.0:0.0	.	1086;683;649	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	C	1086;649;25;683;575	ENSP00000276297:R1086C;ENSP00000351797:R649C;ENSP00000422595:R683C;ENSP00000428028:R575C	ENSP00000276297:R1086C	R	-	1	0	DLC1	12997037	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.336000	0.65935	2.761000	0.94854	0.650000	0.86243	CGC	-	superfamily_GTPase activation domain GAP		0.572	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	protein_coding	OTTHUMT00000207632.2	G	NM_182643, NM_006094		12997037	-1	no_errors	NM_182643.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	12952666	G	A	12952666	3	1	130	1	0	0	0	0	1	0	0	0	4550	1087	38	1	1362	1	DLC1	8	12952666	Missense_Mutation	SNP	G	TCGA-AB-2938-03A-01W-0732-08		12952666	133411356	10	1481											
CAMSAP1	157922	genome.wustl.edu	37	9	138714500	138714500	+	Silent	SNP	T	T	C			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr9:138714500T>C	ENST00000389532.4	-	11	2071	c.2007A>G	c.(2005-2007)ccA>ccG	p.P669P	CAMSAP1_ENST00000312405.6_Silent_p.P391P|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.P680P	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	669					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCACTGACAGTGGTCCTGTCT	0.572																																						dbGAP											0			9											47	49	49					9																	138714500		2203	4300	6503	137854321	SO:0001819	synonymous_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.2007A>G	9.37:g.138714500T>C		22	0	0		13	23.53	4	137854321	37	26.92	14	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	superfamily_PRC-barrel domain,HMMPfam_DUF1781	p.P391	ENST00000389532.4	37	c.1173	CCDS35176.2	9																																																																																			-	NULL		0.572	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	protein_coding	OTTHUMT00000055024.2	T	XM_351857		137854321	-1	no_errors	NM_015447.3	genbank	human	validated	54_36p	silent	SNP	0.000	C	C	138714500	T	C	138714500	2	2	130	1	0	0	0	0	0	0	0	1	2611	1683	59	3		3	CAMSAP1	9	138714500	Silent	SNP	T	TCGA-AB-2938-03A-01W-0732-08		138714500	2498931	11	1482											
SIDT2	51092	genome.wustl.edu	37	11	117063898	117063898	+	Missense_Mutation	SNP	A	A	G	rs376002565		TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr11:117063898A>G	ENST00000324225.4	+	23	2666	c.2135A>G	c.(2134-2136)aAt>aGt	p.N712S	SIDT2_ENST00000532062.1_Missense_Mutation_p.N4S|SIDT2_ENST00000431081.2_Missense_Mutation_p.N709S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	712					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		ATGCGCCCCAATGATTTCGCT	0.562																																						dbGAP											0			11						A	SER/ASN	0,4402		0,0,2201	423	403	410		2135	5.4	1	11		410	1,8591	1.2+/-3.3	0,1,4295	no	missense	SIDT2	NM_001040455.1	46	0,1,6496	GG,GA,AA		0.0116,0.0,0.0077	benign	712/833	117063898	1,12993	2201	4296	6497	116569108	SO:0001583	missense	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2135A>G	11.37:g.117063898A>G	ENSP00000314023:p.Asn712Ser	44	0	0		60	28.57	24	116569108	40	24.07	13	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NULL	p.N712S	ENST00000324225.4	37	c.2135	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	A	17.40	3.380561	0.61845	0.0	1.16E-4	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000392956;ENST00000525478;ENST00000532062	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.44	5.44	0.79542	.	0.044083	0.85682	D	0.000000	T	0.25568	0.0622	L	0.46614	1.455	0.48511	D	0.999665	P;P;B;P	0.41131	0.68;0.739;0.409;0.727	B;B;B;P	0.45660	0.356;0.225;0.216;0.489	T	0.02042	-1.1224	10	0.17369	T	0.5	-15.959	15.3236	0.74141	1.0:0.0:0.0:0.0	.	733;709;712;733	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	S	712;733;709;66;50;4	ENSP00000314023:N712S;ENSP00000278951:N733S;ENSP00000399635:N709S;ENSP00000435890:N50S;ENSP00000432432:N4S	ENSP00000278951:N733S	N	+	2	0	SIDT2	116569108	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.682000	0.54656	2.281000	0.76405	0.533000	0.62120	AAT	-	NULL		0.562	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	protein_coding	OTTHUMT00000392836.1	A	NM_015996		116569108	1	no_errors	NM_001040455.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	117063898	A	G	117063898	3	3	130	1	0	0	0	0	1	0	0	0	14303	101	4	3	2225	3	SIDT2	11	117063898	Missense_Mutation	SNP	A	TCGA-AB-2938-03A-01W-0732-08		117063898	17942618	12	1483											
OR8B12	219858	genome.wustl.edu	37	11	124412778	124412778	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr11:124412778T>C	ENST00000306842.2	-	1	797	c.773A>G	c.(772-774)tAt>tGt	p.Y258C		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGGTTTGAGATACATGAAAGC	0.438																																						dbGAP											0			11											97	92	94					11																	124412778		2201	4299	6500	123917988	SO:0001583	missense	0				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"GPCR / Class A : Olfactory receptors"	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.773A>G	11.37:g.124412778T>C	ENSP00000307159:p.Tyr258Cys	67	0	0					123917988	96	21.77	27	B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.Y258C	ENST00000306842.2	37	c.773	CCDS31711.1	11	.	.	.	.	.	.	.	.	.	.	T	11.66	1.706279	0.30232	.	.	ENSG00000170953	ENST00000306842	T	0.00295	8.25	3.89	3.89	0.44902	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000110	T	0.00875	0.0029	M	0.93638	3.44	0.32933	D	0.517399	D	0.89917	1.0	D	0.80764	0.994	T	0.08330	-1.0727	10	0.87932	D	0	.	11.0526	0.47898	0.0:0.0:0.0:1.0	.	258	Q8NGG6	OR8BC_HUMAN	C	258	ENSP00000307159:Y258C	ENSP00000307159:Y258C	Y	-	2	0	OR8B12	123917988	0.979000	0.34478	1.000000	0.80357	0.483000	0.33249	2.549000	0.45803	1.988000	0.58038	0.528000	0.53228	TAT	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.438	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B12	protein_coding	OTTHUMT00000387061.1	T			123917988	-1	no_errors	NM_001005195.1	genbank	human	provisional	54_36p	missense	SNP	0.223	C	C	124412778	T	C	124412778	3	2	130	1	0	0	0	0	1	0	0	0	11226	1406	49	3	161	3	OR8B12	11	124412778	Missense_Mutation	SNP	T	TCGA-AB-2938-03A-01W-0732-08	7348880	124412778	10593738	13	1484											
TUBA3C	7278	genome.wustl.edu	37	13	19751444	19751444	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr13:19751444G>T	ENST00000400113.3	-	4	783	c.679C>A	c.(679-681)Ctc>Atc	p.L227I		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	227					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGGCGATTGAGGTTGGTGTAC	0.547																																						dbGAP											0			13											203	171	182					13																	19751444		2203	4300	6503	18649444	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"Tubulins"	12408	protein-coding gene	gene with protein product		602528	"tubulin, alpha 2"	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.679C>A	13.37:g.19751444G>T	ENSP00000382982:p.Leu227Ile	58	0	0					18649444	50	20.63	13	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	HMMPfam_Tubulin,superfamily_Tubulin C-terminal domain-like,PatternScan_TUBULIN,HMMPfam_Tubulin_C,superfamily_Tubulin nucleotide-binding domain-like	p.L227I	ENST00000400113.3	37	c.679	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	6.123	0.391016	0.11581	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.68624	-0.34	1.19	1.19	0.21007	.	0.000000	0.38111	U	0.001807	T	0.70456	0.3226	.	.	.	0.40297	D	0.978564	.	.	.	.	.	.	T	0.72798	-0.4184	7	0.87932	D	0	.	8.3297	0.32178	0.0:0.0:1.0:0.0	.	.	.	.	I	227	ENSP00000382982:L227I	ENSP00000354037:L227I	L	-	1	0	TUBA3C	18649444	1.000000	0.71417	0.995000	0.50966	0.296000	0.27459	2.173000	0.42472	0.972000	0.38314	0.175000	0.17021	CTC	-	HMMPfam_Tubulin,superfamily_Tubulin nucleotide-binding domain-like		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	G	NM_006001		18649444	-1	no_errors	NM_006001.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	19751444	G	T	19751444	3	4	130	1	0	0	0	0	1	0	0	0	16743	1000	35	4	681	4	TUBA3C	13	19751444	Missense_Mutation	SNP	G	TCGA-AB-2938-03A-01W-0732-08		19751444	95418434	14	1485											
NRXN3	9369	genome.wustl.edu	37	14	80271522	80271522	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr14:80271522A>G	ENST00000557594.1	+	5	1930	c.977A>G	c.(976-978)gAg>gGg	p.E326G	NRXN3_ENST00000281127.7_Missense_Mutation_p.E326G|NRXN3_ENST00000554719.1_Missense_Mutation_p.E958G|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Missense_Mutation_p.E958G|NRXN3_ENST00000428277.2_Missense_Mutation_p.E356G	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	326					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTTGAATGTGAGCCGAGTACA	0.343																																						dbGAP											0			14											271	234	247					14																	80271522		2203	4300	6503	79341275	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.977A>G	14.37:g.80271522A>G	ENSP00000451672:p.Glu326Gly	236	0.42	1		2	0	0	79341275	194	31.21	88	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_4.1m,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2	p.E958G	ENST00000557594.1	37	c.2873		14	.	.	.	.	.	.	.	.	.	.	A	12.07	1.827100	0.32329	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	T;T;T;T;T	0.69685	-0.42;-0.42;0.91;1.29;1.11	5.41	5.41	0.78517	.	0.156720	0.44483	D	0.000444	T	0.64472	0.2601	L	0.52905	1.665	0.44417	D	0.997337	B;B;B;B	0.23735	0.01;0.09;0.019;0.001	B;B;B;B	0.30782	0.061;0.12;0.024;0.005	T	0.60306	-0.7289	9	.	.	.	.	15.4541	0.75299	1.0:0.0:0.0:0.0	.	356;326;326;958	Q9HDB5-4;Q9HDB5-2;Q9HDB5;Q9Y4C0-3	.;.;NRX3B_HUMAN;.	G	1331;1350;958;958;326;326;356	ENSP00000451648:E958G;ENSP00000338349:E958G;ENSP00000451672:E326G;ENSP00000281127:E326G;ENSP00000394426:E356G	.	E	+	2	0	NRXN3	79341275	1.000000	0.71417	0.745000	0.31077	0.447000	0.32167	6.923000	0.75817	2.048000	0.60808	0.528000	0.53228	GAG	-	NULL		0.343	NRXN3-004	NOVEL	basic	protein_coding	NRXN3	protein_coding	OTTHUMT00000413790.1	A	NM_001105250		79341275	1	no_errors	NM_004796.1	genbank	human	reviewed	54_36p	missense	SNP	0.998	G	G	80271522	A	G	80271522	3	3	130	1	0	0	0	0	1	0	0	0	10667	304	11	3	3272	3	NRXN3	14	80271522	Missense_Mutation	SNP	A	TCGA-AB-2938-03A-01W-0732-08		80271522	27078018	15	1486											
CASC4	113201	genome.wustl.edu	37	15	44695122	44695122	+	Silent	SNP	G	G	A	rs370148920		TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr15:44695122G>A	ENST00000299957.6	+	9	1409	c.1110G>A	c.(1108-1110)ccG>ccA	p.P370P	RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_Intron|CASC4_ENST00000345795.2_Intron	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	370						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CTGTTGATCCGCAGCATGGCT	0.443																																						dbGAP											0			15						G	,	0,4396		0,0,2198	99	86	91		1110,	5.8	1	15		91	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,intron	CASC4	NM_138423.3,NM_177974.2	,	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	,	370/437,	44695122	1,12991	2198	4298	6496	42482414	SO:0001819	synonymous_variant	0			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000299957.6:c.1110G>A	15.37:g.44695122G>A		53	0	0		11	66.67	22	42482414	67	31.68	32	B4DPZ6|G5E934|Q6UY45|Q96EM1	Silent	SNP	NULL	p.P370	ENST00000299957.6	37	c.1110	CCDS10108.1	15																																																																																			-	NULL		0.443	CASC4-001	KNOWN	basic|CCDS	protein_coding	CASC4	protein_coding	OTTHUMT00000253815.1	G	NM_138423		42482414	1	no_errors	NM_138423.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	44695122	G	A	44695122	2	1	130	1	0	0	0	0	0	0	0	1	2662	1074	38	1		1	CASC4	15	44695122	Silent	SNP	G	TCGA-AB-2938-03A-01W-0732-08		44695122	57836270	16	1487											
EDC4	23644	genome.wustl.edu	37	16	67912443	67912443	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr16:67912443C>T	ENST00000358933.5	+	10	1332	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	AC040162.1_ENST00000408599.1_RNA|EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	365					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTGCAGTGTCCCTTTCTGGAG	0.562																																						dbGAP											0			16											97	93	94					16																	67912443		2198	4300	6498	66469944	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1093C>T	16.37:g.67912443C>T	ENSP00000351811:p.Pro365Ser	125	0	0		74	37.82	45	66469944	52	22.39	15	A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40	p.P365S	ENST00000358933.5	37	c.1093	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877602	0.72294	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	L	0.45581	1.43	0.80722	D	1	D;D	0.69078	0.97;0.997	P;P	0.61397	0.816;0.888	T	0.73272	-0.4035	9	0.56958	D	0.05	-7.0156	19.4328	0.94778	0.0:1.0:0.0:0.0	.	297;365	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	S	365;297	.	ENSP00000351811:P365S	P	+	1	0	EDC4	66469944	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.759000	0.85235	2.711000	0.92665	0.561000	0.74099	CCT	-	HMMSmart_SM00320,superfamily_WD40 repeat-like		0.562	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	protein_coding	OTTHUMT00000268874.2	C	NM_014329		66469944	1	no_errors	NM_014329.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	67912443	C	T	67912443	3	4	130	1	0	0	0	0	1	0	0	0	4908	623	22	2	1131	2	EDC4	16	67912443	Missense_Mutation	SNP	C	TCGA-AB-2938-03A-01W-0732-08		67912443	22442310	17	1488											
TP53	7157	genome.wustl.edu	37	17	7574003	7574003	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr17:7574003delG	ENST00000269305.4	-	10	1213	c.1024delC	c.(1024-1026)cgafs	p.R342fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCAGCTCTCGGAACATCTCG	0.557		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	89	Substitution - Nonsense(70)|Whole gene deletion(8)|Deletion - Frameshift(7)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	breast(16)|upper_aerodigestive_tract(11)|large_intestine(9)|central_nervous_system(9)|ovary(7)|lung(6)|skin(5)|liver(5)|haematopoietic_and_lymphoid_tissue(4)|pancreas(4)|bone(4)|stomach(2)|urinary_tract(2)|oesophagus(2)|kidney(1)|peritoneum(1)|endometrium(1)	17	GRCh37	CM004908	TP53	M							62	48	53					17																	7574003		2203	4300	6503	7514728	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1024delC	17.37:g.7574003delG	ENSP00000269305:p.Arg342fs	117	0	0		94	1.04	1	7514728	170	13.3	27	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.R342fs	ENST00000269305.4	37	c.1024	CCDS11118.1	17																																																																																			-	HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7514728	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.397	-	-	7574003	G	-	7574003	7	5	130	1	0	1	0	1	0	0	0	0	16378	1124	39	0	165	0	TP53	17	7574003	Frame_Shift_Del	DEL	G	TCGA-AB-2938-03A-01W-0732-08		7574003	73621207	18	1489											
TP53	7157	genome.wustl.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr17:7578394T>C	ENST00000269305.4	-	5	725	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000420246.2_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAGCGCTCATGGTGGGGGCA	0.642		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	217	Substitution - Missense(166)|Deletion - In frame(24)|Deletion - Frameshift(18)|Whole gene deletion(8)|Complex - deletion inframe(1)	lung(35)|breast(32)|large_intestine(29)|upper_aerodigestive_tract(26)|oesophagus(21)|ovary(21)|central_nervous_system(16)|haematopoietic_and_lymphoid_tissue(8)|urinary_tract(6)|pancreas(6)|liver(5)|bone(4)|biliary_tract(3)|cervix(1)|stomach(1)|endometrium(1)|salivary_gland(1)|skin(1)	17											47	47	47					17																	7578394		2203	4300	6503	7519119	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.536A>G	17.37:g.7578394T>C	ENSP00000269305:p.His179Arg	65	0	0		28	85.11	160	7519119	62	59.09	91	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.H179R	ENST00000269305.4	37	c.536	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	26.0	4.694391	0.88830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.47	5.47	0.80525	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99917	0.9961	M	0.92507	3.315	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.989;1.0;0.985;1.0;0.995;1.0;0.996	D;D;D;D;D;D;D	0.97110	0.929;0.996;0.912;1.0;0.985;0.995;0.937	D	0.95874	0.8893	10	0.87932	D	0	-15.4889	13.8032	0.63214	0.0:0.0:0.0:1.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179R;ENSP00000352610:H179R;ENSP00000269305:H179R;ENSP00000398846:H179R;ENSP00000391127:H179R;ENSP00000391478:H179R;ENSP00000425104:H47R;ENSP00000423862:H86R	ENSP00000269305:H179R	H	-	2	0	TP53	7519119	1.000000	0.71417	0.945000	0.38365	0.856000	0.48823	6.263000	0.72521	2.208000	0.71279	0.460000	0.39030	CAT	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.642	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7519119	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	0.999	C	C	7578394	T	C	7578394	3	2	130	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-AB-2938-03A-01W-0732-08	4391	7578394	73616816	19	1490											
CD320	51293	genome.wustl.edu	37	19	8369962	8369962	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr19:8369962C>G	ENST00000301458.5	-	2	285	c.221G>C	c.(220-222)tGc>tCc	p.C74S	CD320_ENST00000596246.1_5'Flank|CD320_ENST00000537716.2_Intron	NM_016579.3	NP_057663.1	Q9NPF0	CD320_HUMAN	CD320 molecule	74	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cobalamin metabolic process (GO:0009235)|regulation of cell growth (GO:0001558)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						GTCCCTGTCGCAGCGCCAGGT	0.662																																						dbGAP											0			19											52	49	50					19																	8369962		2203	4300	6503	8275962	SO:0001583	missense	0			AF161254	CCDS12198.1, CCDS54210.1	19p13.3-p13.2	2008-02-05	2006-03-28			ENSG00000167775		"CD molecules"	16692	protein-coding gene	gene with protein product	"8D6 antigen"	606475	"CD320 antigen"			10727470	Standard	NM_016579		Approved	8D6, 8D6A	uc002mjj.2	Q9NPF0		ENST00000301458.5:c.221G>C	19.37:g.8369962C>G	ENSP00000301458:p.Cys74Ser	35	0	0		11	80.36	45	8275962	21	58	29	B2RDS5|D6W668|F5H6D3|Q53HF7	Missense_Mutation	SNP	HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich	p.C74S	ENST00000301458.5	37	c.221	CCDS12198.1	19	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496523	0.64186	.	.	ENSG00000167775	ENST00000301458	D	0.99751	-6.63	4.87	4.87	0.63330	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.50627	D	0.000103	D	0.99889	0.9947	H	0.99487	4.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96328	0.9241	10	0.87932	D	0	-21.445	14.2342	0.65913	0.0:1.0:0.0:0.0	.	74	Q9NPF0	CD320_HUMAN	S	74	ENSP00000301458:C74S	ENSP00000301458:C74S	C	-	2	0	CD320	8275962	0.990000	0.36364	0.769000	0.31535	0.085000	0.17905	4.635000	0.61332	2.644000	0.89710	0.655000	0.94253	TGC	-	HMMPfam_Ldl_recept_a,HMMSmart_LDLa,PatternScan_LDLRA_1,superfamily_LDL_rcpt_classA_cys-rich		0.662	CD320-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD320	protein_coding	OTTHUMT00000461366.1	C	NM_016579		8275962	-1	no_errors	NM_016579.2	genbank	human	validated	54_36p	missense	SNP	0.974	G	G	8369962	C	G	8369962	3	3	130	1	0	0	0	0	1	0	0	0	3004	710	25	4	643	4	CD320	19	8369962	Missense_Mutation	SNP	C	TCGA-AB-2938-03A-01W-0732-08		8369962	50759021	20	1491											
PRKCG	5582	genome.wustl.edu	37	19	54407970	54407970	+	Missense_Mutation	SNP	C	C	T	rs149266855		TCGA-AB-2938-03A-01W-0732-08	TCGA-AB-2938-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	d0b06a0b-9181-44ad-ad12-c9d1ca414e29	f82130cf-0cf8-40b7-a102-d1238eca7f06	g.chr19:54407970C>T	ENST00000263431.3	+	16	2020	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	PRKCG_ENST00000540413.1_Missense_Mutation_p.R580W|PRKCG_ENST00000542049.1_Intron	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	580	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GTCGCTTTCCCGGGAAGCCGT	0.577													C|||	1	0.000199681	0	0	5008	,	,		18642	0		0	False		,,,				2504	0.001					dbGAP											0			19						C	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	87	65	72		1738	4.6	1	19	dbSNP_134	72	0,8600		0,0,4300	no	missense	PRKCG	NM_002739.3	101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	580/698	54407970	2,13004	2203	4300	6503	59099782	SO:0001583	missense	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"PKC-gamma"	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1738C>T	19.37:g.54407970C>T	ENSP00000263431:p.Arg580Trp	115	0	0					59099782	74	20.43	19	B7Z8Q0	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,HMMSmart_S_TK_X,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_C2_CaLB,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,HMMPfam_Pkinase_C,superfamily_SSF57889	p.R580W	ENST00000263431.3	37	c.1738	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	C	19.58	3.853802	0.71719	4.54E-4	0.0	ENSG00000126583	ENST00000540413;ENST00000263431	T;T	0.53640	0.61;0.61	4.63	4.63	0.57726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.61022	0.2314	L	0.58669	1.825	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69307	0.963;0.948	T	0.63102	-0.6712	9	0.87932	D	0	.	10.4405	0.44462	0.1944:0.8056:0.0:0.0	.	580;580	F5H5C4;P05129	.;KPCG_HUMAN	W	580	ENSP00000443493:R580W;ENSP00000263431:R580W	ENSP00000263431:R580W	R	+	1	2	PRKCG	59099782	0.939000	0.31865	1.000000	0.80357	0.996000	0.88848	0.382000	0.20635	2.573000	0.86826	0.561000	0.74099	CGG	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.577	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	protein_coding	OTTHUMT00000139233.3	C	NM_002739		59099782	1	no_errors	NM_002739.3	genbank	human	reviewed	54_36p	missense	SNP	0.993	T	T	54407970	C	T	54407970	3	4	130	1	0	0	0	0	1	0	0	0	12512	643	23	1	1800	1	PRKCG	19	54407970	Missense_Mutation	SNP	C	TCGA-AB-2938-03A-01W-0732-08	46038008	54407970	4721013	21	1492											
C1orf51	148523	genome.wustl.edu	37	1	150255858	150255858	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr1:150255858C>A	ENST00000290363.5	+	1	630	c.181C>A	c.(181-183)Cct>Act	p.P61T	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Missense_Mutation_p.P61T	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN		61					circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGCCCGGGTCCTATCCGCTG	0.617																																						dbGAP											0			1											123	124	123					1																	150255858		2203	4300	6503	148522482	SO:0001583	missense	0																														ENST00000290363.5:c.181C>A	1.37:g.150255858C>A	ENSP00000290363:p.Pro61Thr	283	1.05	3					148522482	334	44.37	268	B2RD43|D3DV01|Q8N795|Q96MG6	Missense_Mutation	SNP	NULL	p.P61T	ENST00000290363.5	37	c.181	CCDS949.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.036421	0.75617	.	.	ENSG00000159208	ENST00000369095;ENST00000290363	.	.	.	4.7	4.7	0.59300	.	0.363163	0.22962	N	0.053529	T	0.64382	0.2593	L	0.60455	1.87	0.38203	D	0.94025	D	0.89917	1.0	D	0.87578	0.998	T	0.65216	-0.6222	9	0.46703	T	0.11	-4.2309	13.0265	0.58819	0.0:1.0:0.0:0.0	.	61	Q8N365	CA051_HUMAN	T	61	.	ENSP00000290363:P61T	P	+	1	0	C1orf51	148522482	0.999000	0.42202	0.995000	0.50966	0.995000	0.86356	3.235000	0.51328	2.437000	0.82529	0.655000	0.94253	CCT	-	NULL		0.617	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1orf51	protein_coding	OTTHUMT00000035058.1	C			148522482	1	no_errors	NM_144697.2	genbank	human	predicted	54_36p	missense	SNP	0.959	A	A	150255858	C	A	150255858	3	1	131	1	0	0	0	0	1	0	0	0	2043	855	30	4	183	4	C1orf51	1	150255858	Missense_Mutation	SNP	C	TCGA-AB-2939-03A-01W-0745-08		150255858	98994763	1	1493											
MAEL	84944	genome.wustl.edu	37	1	166962013	166962013	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr1:166962013T>C	ENST00000367872.4	+	4	660	c.416T>C	c.(415-417)aTt>aCt	p.I139T	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I108T	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	139					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CCTTGTGAAATTGGCTGTGTT	0.383																																						dbGAP											0			1											115	114	115					1																	166962013		2203	4300	6503	165228637	SO:0001583	missense	0			AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"cancer/testis antigen 128", "spermatogenesis associated 35"	611368	"maelstrom homolog (Drosophila)"			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.416T>C	1.37:g.166962013T>C	ENSP00000356846:p.Ile139Thr	94	3.09	3		0	100	3	165228637	111	51.45	124	B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	superfamily_HMG-box,HMMPfam_DUF1898	p.I139T	ENST00000367872.4	37	c.416	CCDS1257.1	1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.594329	0.66219	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624	T;T;T	0.56611	0.53;0.45;0.53	5.65	4.51	0.55191	Domain of unknown function DUF1898 (1);	0.000000	0.64402	D	0.000002	T	0.50086	0.1595	L	0.29908	0.895	0.47547	D	0.999455	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.57423	-0.7814	10	0.87932	D	0	.	11.0707	0.48002	0.0:0.0756:0.0:0.9244	.	108;139	E9JVC3;Q96JY0	.;MAEL_HUMAN	T	139;108;108	ENSP00000356846:I139T;ENSP00000356844:I108T;ENSP00000402143:I108T	ENSP00000356844:I108T	I	+	2	0	MAEL	165228637	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.770000	0.55310	2.150000	0.67090	0.383000	0.25322	ATT	-	HMMPfam_DUF1898		0.383	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAEL	protein_coding	OTTHUMT00000083239.1	T	NM_032858		165228637	1	no_errors	NM_032858.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	166962013	T	C	166962013	3	2	131	1	0	0	0	0	1	0	0	0	9154	1493	52	3	430	3	MAEL	1	166962013	Missense_Mutation	SNP	T	TCGA-AB-2939-03A-01W-0745-08	16706155	166962013	82288608	2	1494											
SLC16A14	151473	genome.wustl.edu	37	2	230910902	230910902	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr2:230910902G>A	ENST00000295190.4	-	4	1398	c.940C>T	c.(940-942)Cga>Tga	p.R314*		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	314						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.R314*(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		ACAAACATTCGATTTGTAAAT	0.453																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)	2											51	51	51					2																	230910902		2203	4300	6503	230619146	SO:0001587	stop_gained	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"Solute carriers"	26417	protein-coding gene	gene with protein product	"monocarboxylic acid transporter 14"		"solute carrier family 16 (monocarboxylic acid transporters), member 14"				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.940C>T	2.37:g.230910902G>A	ENSP00000295190:p.Arg314*	135	2.16	3		11	38.89	7	230619146	116	36.41	67	A8KA08|Q53R92|Q96NI7	Nonsense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS general substrate transporter	p.R314*	ENST00000295190.4	37	c.940	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919851	0.73098	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	.	.	.	4.77	2.85	0.33270	.	0.108145	0.40144	N	0.001161	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4538	0.55691	0.0:0.0:0.4596:0.5404	.	.	.	.	X	314	.	ENSP00000295190:R314X	R	-	1	2	SLC16A14	230619146	0.658000	0.27402	0.012000	0.15200	0.399000	0.30720	1.944000	0.40263	1.198000	0.43158	0.511000	0.50034	CGA	-	HMMPfam_MFS_1,superfamily_MFS general substrate transporter		0.453	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	protein_coding	OTTHUMT00000256918.2	G	NM_152527		230619146	-1	no_errors	NM_152527.3	genbank	human	provisional	54_36p	nonsense	SNP	0.701	A	A	230910902	G	A	230910902	4	1	131	1	0	0	0	0	0	1	0	0	14407	1066	37	1	600	1	SLC16A14	2	230910902	Nonsense_Mutation	SNP	G	TCGA-AB-2939-03A-01W-0745-08		230910902	12288471	3	1495											
SLC6A20	54716	genome.wustl.edu	37	3	45823629	45823629	+	Missense_Mutation	SNP	G	G	A	rs141312000		TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr3:45823629G>A	ENST00000358525.4	-	2	323	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	SLC6A20_ENST00000353278.4_Missense_Mutation_p.R70W|SLC6A20_ENST00000456124.2_Missense_Mutation_p.R70W	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	70					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCCCTGCCGCATGCGCTGC	0.632																																						dbGAP											0			3							TRP/ARG,TRP/ARG	0,4406		0,0,2203	76	56	63		208,208	5.4	1	3	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC6A20	NM_020208.3,NM_022405.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	70/593,70/556	45823629	1,13005	2203	4300	6503	45798633	SO:0001583	missense	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"Solute carriers"	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.208C>T	3.37:g.45823629G>A	ENSP00000346298:p.Arg70Trp	92	2.11	2					45798633	90	43.03	71	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Missense_Mutation	SNP	HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.R70W	ENST00000358525.4	37	c.208	CCDS43077.1	3	.	.	.	.	.	.	.	.	.	.	g	24.0	4.485032	0.84854	0.0	1.16E-4	ENSG00000163817	ENST00000353278;ENST00000358525;ENST00000456124	T;T;T	0.78126	-1.15;-1.15;-1.15	5.39	5.39	0.77823	.	0.069273	0.56097	D	0.000024	D	0.91818	0.7411	H	0.94503	3.545	0.43994	D	0.99669	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93815	0.7113	10	0.87932	D	0	.	19.1813	0.93625	0.0:0.0:1.0:0.0	.	70;70	Q9NP91-2;Q9NP91	.;S6A20_HUMAN	W	70	ENSP00000296133:R70W;ENSP00000346298:R70W;ENSP00000404310:R70W	ENSP00000296133:R70W	R	-	1	2	SLC6A20	45798633	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.518000	0.53451	2.545000	0.85829	0.550000	0.68814	CGG	-	HMMPfam_SNF		0.632	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	protein_coding	OTTHUMT00000257318.3	G	NM_020208		45798633	-1	no_errors	NM_020208.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	45823629	G	A	45823629	3	1	131	1	0	0	0	0	1	0	0	0	14684	1086	38	1	1610	1	SLC6A20	3	45823629	Missense_Mutation	SNP	G	TCGA-AB-2939-03A-01W-0745-08		45823629	152198801	4	1496											
SI	6476	genome.wustl.edu	37	3	164733754	164733754	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr3:164733754A>G	ENST00000264382.3	-	32	3936	c.3874T>C	c.(3874-3876)Tac>Cac	p.Y1292H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1292	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ATAATAATGTATCTCATTCCT	0.393										HNSCC(35;0.089)																												dbGAP											0			3											163	171	168					3																	164733754		2203	4300	6503	166216448	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3874T>C	3.37:g.164733754A>G	ENSP00000264382:p.Tyr1292His	80	1.23	1					166216448	100	43.58	78	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL	p.Y1292H	ENST00000264382.3	37	c.3874	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	A	17.34	3.365356	0.61513	.	.	ENSG00000090402	ENST00000264382	D	0.92965	-3.14	5.06	2.44	0.29823	Glycoside hydrolase, superfamily (1);	0.124148	0.53938	D	0.000055	D	0.96128	0.8738	H	0.95328	3.655	0.27325	N	0.956934	D	0.60575	0.988	D	0.66196	0.942	D	0.90007	0.4118	10	0.87932	D	0	.	6.5309	0.22326	0.5895:0.1405:0.0:0.27	.	1292	P14410	SUIS_HUMAN	H	1292	ENSP00000264382:Y1292H	ENSP00000264382:Y1292H	Y	-	1	0	SI	166216448	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	5.347000	0.65998	0.892000	0.36259	0.482000	0.46254	TAC	-	HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases		0.393	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	protein_coding	OTTHUMT00000350116.1	A	NM_001041		166216448	-1	no_errors	NM_001041.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	164733754	A	G	164733754	3	3	131	1	0	0	0	0	1	0	0	0	14297	449	16	3	1677	3	SI	3	164733754	Missense_Mutation	SNP	A	TCGA-AB-2939-03A-01W-0745-08	118910125	164733754	33288676	5	1497											
LNX1	84708	genome.wustl.edu	37	4	54364820	54364820	+	Silent	SNP	G	G	A			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr4:54364820G>A	ENST00000263925.7	-	5	1280	c.966C>T	c.(964-966)gaC>gaT	p.D322D	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Silent_p.D226D|LNX1-AS1_ENST00000502373.1_RNA|LNX1-AS1_ENST00000510785.1_RNA	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	322	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTAGAATGATGTCTCCTGGCA	0.493																																						dbGAP											0			4											57	54	55					4																	54364820		2203	4300	6503	54059577	SO:0001819	synonymous_variant	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"RING-type (C3HC4) zinc fingers"	6657	protein-coding gene	gene with protein product		609732	"ligand of numb-protein X", "ligand of numb-protein X 1"	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.966C>T	4.37:g.54364820G>A		200	2.44	5					54059577	187	42.86	144	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ	p.D226	ENST00000263925.7	37	c.678	CCDS47057.1	4																																																																																			-	HMMPfam_PDZ,HMMSmart_PDZ,superfamily_PDZ		0.493	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	protein_coding	OTTHUMT00000219934.2	G			54059577	-1	no_errors	NM_032622.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	54364820	G	A	54364820	2	1	131	1	0	0	0	0	0	0	0	1	8865	1368	48	2		2	LNX1	4	54364820	Silent	SNP	G	TCGA-AB-2939-03A-01W-0745-08		54364820	136789456	6	1498											
KIT	3815	genome.wustl.edu	37	4	55599321	55599321	+	Missense_Mutation	SNP	A	A	T	rs121913507		TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr4:55599321A>T	ENST00000288135.5	+	17	2544	c.2447A>T	c.(2446-2448)gAc>gTc	p.D816V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816V(758)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCAGAGACATCAAGAAT	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	770	Substitution - Missense(769)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(745)|testis(16)|ovary(5)|skin(2)|soft_tissue(1)|genital_tract(1)	4	GRCh37	CM952169	KIT	M	rs121913507						145	146	145					4																	55599321		2203	4300	6503	55294078	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2447A>T	4.37:g.55599321A>T	ENSP00000288135:p.Asp816Val	65	0	0		731	50.54	747	55294078	57	55.12	70	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D816V	ENST00000288135.5	37	c.2447	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831107	0.91036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.85093	0.5618	N	0.21097	0.63	0.80722	A	1	D;D	0.71674	0.998;0.991	D;D	0.68943	0.961;0.933	D	0.88419	0.3027	9	0.87932	D	0	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	V	816;812	ENSP00000288135:D816V;ENSP00000390987:D812V	ENSP00000288135:D816V	D	+	2	0	KIT	55294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.148000	0.66965	0.477000	0.44152	GAC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	A			55294078	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	55599321	A	T	55599321	3	4	131	1	0	0	0	0	1	0	0	0	8329	275	10	5	2513	5	KIT	4	55599321	Missense_Mutation	SNP	A	TCGA-AB-2939-03A-01W-0745-08	1234501	55599321	135554955	7	1499											
PRSS35	167681	genome.wustl.edu	37	6	84234378	84234378	+	Silent	SNP	C	C	T	rs370535612		TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr6:84234378C>T	ENST00000369700.3	+	2	1395	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	PRSS35_ENST00000536636.1_Silent_p.N406N	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	406	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		TTCACGGGAACGATGCCAATT	0.498																																						dbGAP											0			6						C	,	0,4406		0,0,2203	57	40	46		1218,1218	0.3	0	6		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PRSS35	NM_001170423.1,NM_153362.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	406/414,406/414	84234378	1,13005	2203	4300	6503	84291097	SO:0001819	synonymous_variant	0			BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"Serine peptidases / Serine peptidases"	21387	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 158"	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1218C>T	6.37:g.84234378C>T		90	1.1	1					84291097	154	45.07	128	A8K7B3|Q9BQP6	Silent	SNP	HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.N406	ENST00000369700.3	37	c.1218	CCDS4999.1	6																																																																																			-	NULL		0.498	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	protein_coding	OTTHUMT00000041352.1	C	NM_153362		84291097	1	no_errors	NM_153362.1	genbank	human	provisional	54_36p	silent	SNP	1.000	T	T	84234378	C	T	84234378	2	4	131	1	0	0	0	0	0	0	0	1	12624	535	19	1		1	PRSS35	6	84234378	Silent	SNP	C	TCGA-AB-2939-03A-01W-0745-08		84234378	86880689	8	1500											
SCIN	85477	genome.wustl.edu	37	7	12644246	12644246	+	Silent	SNP	A	A	C			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr7:12644246A>C	ENST00000297029.5	+	4	725	c.624A>C	c.(622-624)ctA>ctC	p.L208L	SCIN_ENST00000519209.1_5'UTR|SCIN_ENST00000445618.2_5'UTR	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	208	Actin-severing. {ECO:0000255}.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGTCTGAACTAATTGTCGTGG	0.438																																						dbGAP											0			7											290	248	260					7																	12644246		692	1591	2283	12610771	SO:0001819	synonymous_variant	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.624A>C	7.37:g.12644246A>C		94	0	0		0	100	1	12610771	158	43.75	126	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Silent	SNP	HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins,superfamily_C-terminal gelsolin-like domain of Sec23/24	p.L208	ENST00000297029.5	37	c.624	CCDS47545.1	7																																																																																			-	HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins		0.438	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	protein_coding	OTTHUMT00000326041.1	A	NM_033128		12610771	1	no_errors	ENST00000297029	ensembl	human	known	54_36p	silent	SNP	0.066	C	C	12644246	A	C	12644246	2	2	131	1	0	0	0	0	0	0	0	1	13905	349	13	5		5	SCIN	7	12644246	Silent	SNP	A	TCGA-AB-2939-03A-01W-0745-08		12644246	146494417	9	1501											
GALNTL4	374378	genome.wustl.edu	37	11	11398886	11398886	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr11:11398886G>A	ENST00000227756.4	-	5	1231	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	274					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GAGATGATCCGCTTCCGGTTC	0.527																																						dbGAP											0			11											75	67	69					11																	11398886		2201	4294	6495	11355462	SO:0001583	missense	0			AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"Glycosyltransferase family 2 domain containing"	30488	protein-coding gene	gene with protein product	"polypeptide GalNAc transferase 18"	615136	"UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4", "UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.820C>T	11.37:g.11398886G>A	ENSP00000227756:p.Arg274Trp	96	1.03	1					11355462	178	45.81	153	O95903|Q8NDY9	Missense_Mutation	SNP	HMMPfam_Ricin_B_lectin,HMMSmart_SM00458,HMMPfam_Glycos_transf_2,superfamily_Ricin B-like lectins,superfamily_Nucleotide-diphospho-sugar transferases	p.R274W	ENST00000227756.4	37	c.820	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787550	0.70337	.	.	ENSG00000110328	ENST00000227756	T	0.59224	0.28	5.52	3.45	0.39498	Glycosyl transferase, family 2 (1);	0.162750	0.39615	N	0.001315	T	0.79353	0.4431	M	0.91612	3.225	0.45161	D	0.998176	D	0.89917	1.0	D	0.78314	0.991	D	0.84052	0.0370	10	0.72032	D	0.01	.	14.1028	0.65068	0.0:0.0:0.7858:0.2142	.	274	Q6P9A2	GLTL4_HUMAN	W	274	ENSP00000227756:R274W	ENSP00000227756:R274W	R	-	1	2	GALNTL4	11355462	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	3.369000	0.52365	2.589000	0.87451	0.655000	0.94253	CGG	-	HMMPfam_Glycos_transf_2,superfamily_Nucleotide-diphospho-sugar transferases		0.527	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL4	protein_coding	OTTHUMT00000385848.1	G	NM_198516		11355462	-1	no_errors	NM_198516.2	genbank	human	validated	54_36p	missense	SNP	0.981	A	A	11398886	G	A	11398886	3	1	131	1	0	0	0	0	1	0	0	0	6223	1086	38	1	1031	1	GALNTL4	11	11398886	Missense_Mutation	SNP	G	TCGA-AB-2939-03A-01W-0745-08		11398886	123607630	10	1502											
C11orf41	25758	genome.wustl.edu	37	11	33572721	33572721	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr11:33572721C>A	ENST00000321505.4	+	4	2926	c.2746C>A	c.(2746-2748)Caa>Aaa	p.Q916K	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.Q922K|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.Q922K			Q6ZVL6	K154L_HUMAN	KIAA1549-like	916						integral component of membrane (GO:0016021)											AGACCTGAAGCAACACACCCC	0.512																																						dbGAP											0			11											147	148	148					11																	33572721		2172	4268	6440	33529297	SO:0001583	missense	0			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"chromosome 11 open reading frame 69", "chromosome 11 open reading frame 41"	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.2746C>A	11.37:g.33572721C>A	ENSP00000315295:p.Gln916Lys	178	4.23	8					33529297	92	49.46	91	B0QYU0	Missense_Mutation	SNP	NULL	p.Q922K	ENST00000321505.4	37	c.2764	CCDS44565.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.99|16.99	3.274890|3.274890	0.59649|0.59649	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568|ENST00000526400	.|.	.|.	.|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.113706|.	0.64402|.	D|.	0.000007|.	T|T	0.57902|0.57902	0.2085|0.2085	L|L	0.29908|0.29908	0.895|0.895	0.35603|0.35603	D|D	0.808008|0.808008	P;D|.	0.56968|.	0.524;0.978|.	B;P|.	0.52881|.	0.138;0.712|.	T|T	0.59685|0.59685	-0.7408|-0.7408	9|5	0.59425|.	D|.	0.04|.	-12.3169|-12.3169	18.3939|18.3939	0.90492|0.90492	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	922;922|.	E9PAT2;Q6ZVL6-2|.	.;.|.	K|R	916;922;922;755|313	.|.	ENSP00000265654:Q922K|.	Q|S	+|+	1|3	0|2	C11orf41|C11orf41	33529297|33529297	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.705000|0.705000	0.40729|0.40729	4.196000|4.196000	0.58407|0.58407	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CAA|AGC	-	NULL		0.512	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf41	protein_coding	OTTHUMT00000317998.1	C	NM_012194		33529297	1	no_errors	NM_012194.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	33572721	C	A	33572721	3	1	131	1	0	0	0	0	1	0	0	0	1640	711	25	4	2778	4	C11orf41	11	33572721	Missense_Mutation	SNP	C	TCGA-AB-2939-03A-01W-0745-08	22173835	33572721	101433795	11	1503											
MLL2	8085	genome.wustl.edu	37	12	49425367	49425367	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr12:49425367A>T	ENST00000301067.7	-	39	13120	c.13121T>A	c.(13120-13122)cTg>cAg	p.L4374Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4374					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCAAGGTCCCAGACCCTTGCT	0.612																																						dbGAP											0			12											16	16	16					12																	49425367		1909	4129	6038	47711634	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	7133	protein-coding gene	gene with protein product		602113	"trinucleotide repeat containing 21", "myeloid/lymphoid or mixed-lineage leukemia 2"	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13121T>A	12.37:g.49425367A>T	ENSP00000301067:p.Leu4374Gln	25	3.85	1		66	53.19	75	47711634	49	48.96	47	O14687	Missense_Mutation	SNP	HMMPfam_HMG_box,HMMSmart_SM00398,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00184,HMMSmart_SM00249,HMMSmart_SM00508,HMMPfam_FYRN,HMMPfam_FYRC,PatternScan_RECOMBINASES_2,superfamily_HMG-box,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00542,HMMSmart_SM00541,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SET domain	p.L4374Q	ENST00000301067.7	37	c.13121	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	A	7.995	0.754229	0.15778	.	.	ENSG00000167548	ENST00000301067	T	0.79454	-1.27	5.17	5.17	0.71159	.	0.317981	0.17590	N	0.168797	T	0.61286	0.2335	N	0.14661	0.345	0.22531	N	0.999013	P	0.36733	0.567	B	0.34180	0.177	T	0.60010	-0.7346	10	0.87932	D	0	.	10.0113	0.41988	0.8488:0.0:0.0:0.1512	.	4374	O14686	MLL2_HUMAN	Q	4374	ENSP00000301067:L4374Q	ENSP00000301067:L4374Q	L	-	2	0	MLL2	47711634	0.125000	0.22332	0.888000	0.34837	0.943000	0.58893	1.095000	0.30964	2.254000	0.74563	0.533000	0.62120	CTG	-	NULL		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	protein_coding	OTTHUMT00000390183.2	A			47711634	-1	no_errors	NM_003482.3	genbank	human	validated	54_36p	missense	SNP	0.599	T	T	49425367	A	T	49425367	3	4	131	1	0	0	0	0	1	0	0	0	9621	188	7	5	3556	5	MLL2	12	49425367	Missense_Mutation	SNP	A	TCGA-AB-2939-03A-01W-0745-08		49425367	84426528	12	1504											
KRT77	374454	genome.wustl.edu	37	12	53097123	53097123	+	Silent	SNP	C	C	T			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr12:53097123C>T	ENST00000341809.3	-	1	124	c.96G>A	c.(94-96)ccG>ccA	p.P32P	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	32	Head.					cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACCCACTGCCGGACTCCCAC	0.537																																						dbGAP											0			12											82	88	86					12																	53097123		2203	4300	6503	51383390	SO:0001819	synonymous_variant	0			BK000975	CCDS8837.1	12q13.13	2013-06-25	2006-07-17	2006-07-17	ENSG00000189182	ENSG00000189182		"-", "Intermediate filaments type II, keratins (basic)"	20411	protein-coding gene	gene with protein product		611158	"keratin 1B"	KRT1B		11683385, 16831889	Standard	NM_175078		Approved		uc001saw.3	Q7Z794	OTTHUMG00000169450	ENST00000341809.3:c.96G>A	12.37:g.53097123C>T		179	2.17	4					51383390	105	41.34	74	Q7RTS8	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.P32	ENST00000341809.3	37	c.96	CCDS8837.1	12																																																																																			-	NULL		0.537	KRT77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT77	protein_coding	OTTHUMT00000404111.1	C	NM_175078		51383390	-1	no_errors	NM_175078.2	genbank	human	validated	54_36p	silent	SNP	0.000	T	T	53097123	C	T	53097123	2	4	131	1	0	0	0	0	0	0	0	1	8490	639	23	1		1	KRT77	12	53097123	Silent	SNP	C	TCGA-AB-2939-03A-01W-0745-08	3671756	53097123	80754772	13	1505											
HELZ	9931	genome.wustl.edu	37	17	65074476	65074476	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chr17:65074476C>A	ENST00000358691.5	-	33	5887	c.5721G>T	c.(5719-5721)agG>agT	p.R1907S	HELZ_ENST00000580168.1_Missense_Mutation_p.R1908S	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1907						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CAGGAGGGGGCCTGGGCTTTG	0.612																																						dbGAP											0			17											45	49	48					17																	65074476		1873	4092	5965	62504938	SO:0001583	missense	0			D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"Zinc fingers, CCCH-type domain containing"	16878	protein-coding gene	gene with protein product	"down-regulated in human cancers"	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5721G>T	17.37:g.65074476C>A	ENSP00000351524:p.Arg1907Ser	23	4	1		15	62.79	27	62504938	36	54.32	44	I6L9H4	Missense_Mutation	SNP	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,HMMPfam_PAM2,superfamily_SSF52540,superfamily_SSF90229	p.R1907S	ENST00000358691.5	37	c.5721	CCDS42374.1	17	.	.	.	.	.	.	.	.	.	.	C	8.944	0.966576	0.18659	.	.	ENSG00000198265	ENST00000358691	D	0.87179	-2.22	5.46	3.03	0.35002	.	0.092329	0.64402	D	0.000001	T	0.74458	0.3719	N	0.19112	0.55	0.37003	D	0.895365	B;B	0.32573	0.376;0.376	B;B	0.26770	0.073;0.073	T	0.76639	-0.2885	10	0.87932	D	0	-15.2159	8.1526	0.31150	0.0:0.6755:0.0:0.3245	.	1908;1907	B7ZLW2;P42694	.;HELZ_HUMAN	S	1907	ENSP00000351524:R1907S	ENSP00000351524:R1907S	R	-	3	2	HELZ	62504938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.930000	0.28858	1.200000	0.43188	0.655000	0.94253	AGG	-	NULL		0.612	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HELZ	protein_coding	OTTHUMT00000447068.1	C	NM_014877		62504938	-1	no_errors	NM_014877.3	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	65074476	C	A	65074476	3	1	131	1	0	0	0	0	1	0	0	0	7049	738	26	4	111	4	HELZ	17	65074476	Missense_Mutation	SNP	C	TCGA-AB-2939-03A-01W-0745-08		65074476	16120734	14	1506											
FAM47A	158724	genome.wustl.edu	37	X	34150073	34150073	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2939-03A-01W-0745-08	TCGA-AB-2939-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4cc29033-1f07-450a-8fd9-119918d41d31	ac036ed9-2075-47b8-b2bf-b7b235fdbf13	g.chrX:34150073G>A	ENST00000346193.3	-	1	374	c.323C>T	c.(322-324)tCt>tTt	p.S108F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	108										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGGGCTGGAGAGAGCTTGGA	0.527																																						dbGAP											0			X											89	87	87					X																	34150073		2202	4300	6502	34059994	SO:0001583	missense	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.323C>T	X.37:g.34150073G>A	ENSP00000345029:p.Ser108Phe	41	0	0					34059994	10	91.47	118	A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.S108F	ENST00000346193.3	37	c.323	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594423	0.28445	.	.	ENSG00000185448	ENST00000346193	T	0.20200	2.09	1.1	1.1	0.20463	.	.	.	.	.	T	0.40522	0.1120	M	0.77820	2.39	0.09310	N	1	D	0.71674	0.998	D	0.69824	0.966	T	0.10706	-1.0618	9	0.87932	D	0	.	5.2341	0.15437	0.0:0.0:1.0:0.0	.	108	Q5JRC9	FA47A_HUMAN	F	108	ENSP00000345029:S108F	ENSP00000345029:S108F	S	-	2	0	FAM47A	34059994	0.244000	0.23889	0.015000	0.15790	0.013000	0.08279	1.298000	0.33412	0.842000	0.35045	0.499000	0.49734	TCT	-	NULL		0.527	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	G	NM_203408		34059994	-1	no_errors	NM_203408.2	genbank	human	predicted	54_36p	missense	SNP	0.038	A	A	34150073	G	A	34150073	3	1	131	1	0	0	0	0	1	0	0	0	5569	942	33	2	2056	2	FAM47A	23	34150073	Missense_Mutation	SNP	G	TCGA-AB-2939-03A-01W-0745-08		34150073	121120487	15	1507											
MLL3	58508	genome.wustl.edu	37	7	151874161	151874161	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2940-03A-01W-0733-08	TCGA-AB-2940-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5	286c5568-d97b-4af0-9c61-47d91dd7ec12	g.chr7:151874161C>A	ENST00000262189.6	-	38	8595	c.8377G>T	c.(8377-8379)Gaa>Taa	p.E2793*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E2793*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2793					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTTTTGGTTCAACAGATACA	0.348																																						dbGAP											0			7											138	132	134					7																	151874161		2203	4300	6503	151505094	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"Chromatin-modifying enzymes / K-methyltransferases", "Zinc fingers, PHD-type"	13726	protein-coding gene	gene with protein product		606833	"myeloid/lymphoid or mixed-lineage leukemia 3"	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8377G>T	7.37:g.151874161C>A	ENSP00000262189:p.Glu2793*	226	2.99	7		44	15.38	8	151505094	96	17.95	21	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	PatternScan_HMGI_Y,HMMPfam_HMG_box,HMMSmart_SM00398,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00184,HMMSmart_SM00249,HMMSmart_SM00508,HMMPfam_FYRN,HMMPfam_FYRC,superfamily_FYVE/PHD zinc finger,HMMPfam_AT_hook,HMMSmart_SM00542,HMMSmart_SM00541,PatternScan_ZF_PHD_1,HMMPfam_PHD,PatternScan_ATPASE_ALPHA_BETA,superfamily_SET domain	p.E2793*	ENST00000262189.6	37	c.8377	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	16.001812|16.001812	0.99851|0.99851	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193|ENST00000360104	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.47852|.	D|.	0.000215|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.48119|.	T|.	0.1|.	.|.	19.3597|19.3597	0.94432|0.94432	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	2793|298	.|.	ENSP00000262189:E2793X|.	E|X	-|-	1|2	0|2	MLL3|MLL3	151505094|151505094	0.998000|0.998000	0.40836|0.40836	0.842000|0.842000	0.33263|0.33263	0.667000|0.667000	0.39255|0.39255	3.665000|3.665000	0.54532|0.54532	2.566000|2.566000	0.86566|0.86566	0.650000|0.650000	0.86243|0.86243	GAA|TGA	-	NULL		0.348	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	protein_coding	OTTHUMT00000318887.3	C			151505094	-1	no_errors	NM_170606.2	genbank	human	reviewed	54_36p	nonsense	SNP	0.943	A	A	151874161	C	A	151874161	4	1	132	1	0	0	0	0	0	1	0	0	9622	835	29	4	6446	4	MLL3	7	151874161	Nonsense_Mutation	SNP	C	TCGA-AB-2940-03A-01W-0733-08		151874161	7264502	1	1508											
NEURL4	84461	genome.wustl.edu	37	17	7228737	7228737	+	Silent	SNP	C	C	T			TCGA-AB-2940-03A-01W-0733-08	TCGA-AB-2940-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5	286c5568-d97b-4af0-9c61-47d91dd7ec12	g.chr17:7228737C>T	ENST00000399464.2	-	8	1437	c.1422G>A	c.(1420-1422)ggG>ggA	p.G474G	NEURL4_ENST00000315614.7_Silent_p.G474G|NEURL4_ENST00000570460.1_Silent_p.G452G	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	474	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACTGCCATCCCGTACAAGT	0.617																																						dbGAP											0			17											106	112	110					17																	7228737		2111	4206	6317	7169461	SO:0001819	synonymous_variant	0				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"neuralized homolog 4 (Drosophila)"			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1422G>A	17.37:g.7228737C>T		57	9.52	6		32	15.79	6	7169461	26	23.53	8	Q6GPI8|Q96IU9|Q9H0B0	Silent	SNP	HMMPfam_Neuralized,HMMSmart_SM00588	p.G474	ENST00000399464.2	37	c.1422	CCDS42251.1	17																																																																																			-	NULL		0.617	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	protein_coding	OTTHUMT00000255434.2	C	NM_032442		7169461	-1	no_errors	NM_032442.1	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	7228737	C	T	7228737	2	4	132	1	0	0	0	0	0	0	0	1	10347	842	30	2		2	NEURL4	17	7228737	Silent	SNP	C	TCGA-AB-2940-03A-01W-0733-08		7228737	73966473	2	1509											
CEBPA	1050	genome.wustl.edu	37	19	33792395	33792396	+	In_Frame_Ins	INS	-	-	CCA			TCGA-AB-2940-03A-01W-0733-08	TCGA-AB-2940-11A-01W-0732-08	-	-	-	CCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5	286c5568-d97b-4af0-9c61-47d91dd7ec12	g.chr19:33792395_33792396insCCA	ENST00000498907.2	-	1	1074_1075	c.925_926insTGG	c.(925-927)gag>gTGGag	p.308_309insV	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	308	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R306_N307del(4)|p.V308_E309insV(4)|p.R306fs*48(3)|p.E309fs*21(1)|p.V308_E309insGDKAKQRNV(1)|p.H200_K352>Q(1)|p.?(1)|p.N307_Q312del(1)|p.E309fs*10(1)|p.E309fs*13(1)|p.E309>AKQRNVE(1)|p.V308_E309insDKAKQRNV(1)|p.Q305_T310del(1)|p.V308_E309insP(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CTGCTGCGTCTCCACGTTGCGC	0.639			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	22	Insertion - In frame(7)|Deletion - In frame(6)|Complex - deletion inframe(4)|Insertion - Frameshift(2)|Unknown(1)|Complex - frameshift(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(22)	19																																								38484236	SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.923_925dupTGG	19.37:g.33792396_33792398dupCCA	ENSP00000427514:p.Val308_Val308dup	1	0	0		143	44.36	114	38484235	11	42.11	8	A7LNP2|P78319|Q05CA4	In_Frame_Ins	INS	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.309in_frame_insV	ENST00000498907.2	37	c.926_925	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.639	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	-	NM_004364		38484236	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	CCA	CCA	33792396	-	CCA	33792395	7	5	132	1	0	1	1	0	0	0	0	0	3199	1551	54	0	154	0	CEBPA	19	33792395	In_Frame_Ins	INS	-	TCGA-AB-2940-03A-01W-0733-08		33792395	25336588	3	1510											
CEBPA	1050	genome.wustl.edu	37	19	33793253	33793253	+	Frame_Shift_Del	DEL	G	G	-	rs137852728		TCGA-AB-2940-03A-01W-0733-08	TCGA-AB-2940-11A-01W-0732-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6d2b23e2-12c0-4f19-a8f4-defe50ffeeb5	286c5568-d97b-4af0-9c61-47d91dd7ec12	g.chr19:33793253delG	ENST00000498907.2	-	1	217	c.68delC	c.(67-69)ccgfs	p.P23fs	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	23					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H24fs*84(28)|p.P23fs*137(10)|p.P23fs*81(4)|p.H24fs*137(1)|p.S17fs*85(1)|p.P22fs*84(1)|p.H24fs*85(1)|p.Y7_G130del(1)|p.P23fs*133(1)|p.P23fs*138(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GGGCGCGTGCGGGGGGCTCTG	0.766			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	49	Insertion - Frameshift(31)|Deletion - Frameshift(16)|Complex - frameshift(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(49)	19	GRCh37	CD043401	CEBPA	D	rs137852728						1	1	1					19																	33793253		426	1037	1463	38485093	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.68delC	19.37:g.33793253delG	ENSP00000427514:p.Pro23fs	0	0	0		64	32.29	31	38485093	0	0	0	A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.P23fs	ENST00000498907.2	37	c.68	CCDS54243.1	19																																																																																			-	NULL		0.766	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	G	NM_004364		38485093	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.998	-	-	33793253	G	-	33793253	7	5	132	1	0	1	0	1	0	0	0	0	3199	1116	39	0	1012	0	CEBPA	19	33793253	Frame_Shift_Del	DEL	G	TCGA-AB-2940-03A-01W-0733-08	858	33793253	25335730	4	1511											
PKIB	5570	genome.wustl.edu	37	6	123039093	123039093	+	Missense_Mutation	SNP	C	C	T	rs141912516		TCGA-AB-2941-03A-01W-0745-08	TCGA-AB-2941-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f2dd9aa3-dbe1-49ae-bc4f-ba2574759654	57e0ec3e-72a6-4f13-8af7-93642db05dcf	g.chr6:123039093C>T	ENST00000368448.1	+	5	781	c.154C>T	c.(154-156)Ctc>Ttc	p.L52F	PKIB_ENST00000392491.2_Missense_Mutation_p.L52F|PKIB_ENST00000368452.2_Missense_Mutation_p.L52F|PKIB_ENST00000368446.1_Missense_Mutation_p.L61F|PKIB_ENST00000258014.3_Missense_Mutation_p.L59F|PKIB_ENST00000392490.1_Missense_Mutation_p.L52F|PKIB_ENST00000354275.2_Missense_Mutation_p.L52F			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	52							cAMP-dependent protein kinase inhibitor activity (GO:0004862)			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		ACTGGAGGCTCTCTCCGTGAA	0.483																																						dbGAP											0			6											98	91	93					6																	123039093		2203	4300	6503	123080792	SO:0001583	missense	0				CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.154C>T	6.37:g.123039093C>T	ENSP00000357433:p.Leu52Phe	143	2.72	4					123080792	61	34.41	32	B2RCK2|Q567T9|Q5T0Z7	Missense_Mutation	SNP	HMMPfam_PKI	p.L52F	ENST00000368448.1	37	c.154	CCDS5126.1	6	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998390	0.93227	.	.	ENSG00000135549	ENST00000392491;ENST00000368452;ENST00000368448;ENST00000392490;ENST00000258014;ENST00000354275;ENST00000368446	.	.	.	5.43	4.55	0.56014	.	0.000000	0.51477	D	0.000089	T	0.73961	0.3654	.	.	.	0.46458	D	0.999058	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.79429	-0.1807	8	0.87932	D	0	-11.5276	13.4061	0.60913	0.0:0.9241:0.0:0.0759	.	59;52	Q5T0Z7;Q9C010	.;IPKB_HUMAN	F	52;52;52;52;59;52;61	.	ENSP00000258014:L59F	L	+	1	0	PKIB	123080792	0.994000	0.37717	0.073000	0.20177	0.938000	0.57974	3.393000	0.52544	1.498000	0.48600	0.655000	0.94253	CTC	-	HMMPfam_PKI		0.483	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIB	protein_coding	OTTHUMT00000042035.1	C			123080792	1	no_errors	NM_032471.4	genbank	human	reviewed	54_36p	missense	SNP	0.042	T	T	123039093	C	T	123039093	3	4	133	1	0	0	0	0	1	0	0	0	11974	913	32	2	156	2	PKIB	6	123039093	Missense_Mutation	SNP	C	TCGA-AB-2941-03A-01W-0745-08		123039093	48075974	1	1512											
LRRC4	64101	genome.wustl.edu	37	7	127669173	127669173	+	Silent	SNP	G	G	A	rs572177898		TCGA-AB-2941-03A-01W-0745-08	TCGA-AB-2941-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f2dd9aa3-dbe1-49ae-bc4f-ba2574759654	57e0ec3e-72a6-4f13-8af7-93642db05dcf	g.chr7:127669173G>A	ENST00000249363.3	-	2	1778	c.1521C>T	c.(1519-1521)ccC>ccT	p.P507P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	507	Thr-rich.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		TGTCTGTCGCGGGTACTGCCA	0.552													G|||	1	0.000199681	0	0.0014	5008	,	,		20282	0		0	False		,,,				2504	0					dbGAP											0			7											129	107	115					7																	127669173		2203	4300	6503	127456409	SO:0001819	synonymous_variant	0			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"Immunoglobulin superfamily / I-set domain containing"	15586	protein-coding gene	gene with protein product		610486	"leucine-rich repeat-containing 4"			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1521C>T	7.37:g.127669173G>A		155	10.86	19		2	95.45	42	127456409	14	56.25	18	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like	p.P507	ENST00000249363.3	37	c.1521	CCDS5799.1	7																																																																																			-	NULL		0.552	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC4	protein_coding	OTTHUMT00000349170.1	G	NM_022143		127456409	-1	no_errors	NM_022143.4	genbank	human	validated	54_36p	silent	SNP	0.948	A	A	127669173	G	A	127669173	2	1	133	1	0	0	0	0	0	0	0	1	8997	1103	39	1		1	LRRC4	7	127669173	Silent	SNP	G	TCGA-AB-2941-03A-01W-0745-08		127669173	31469490	2	1513											
TP53	7157	genome.wustl.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2941-03A-01W-0745-08	TCGA-AB-2941-11A-01W-0745-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f2dd9aa3-dbe1-49ae-bc4f-ba2574759654	57e0ec3e-72a6-4f13-8af7-93642db05dcf	g.chr17:7578265A>C	ENST00000269305.4	-	6	773	c.584T>G	c.(583-585)aTc>aGc	p.I195S	TP53_ENST00000420246.2_Missense_Mutation_p.I195S|TP53_ENST00000445888.2_Missense_Mutation_p.I195S|TP53_ENST00000359597.4_Missense_Mutation_p.I195S|TP53_ENST00000413465.2_Missense_Mutation_p.I195S|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.I195S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCCACTCGGATAAGATGCTG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100	89	93					17																	7578265		2203	4300	6503	7518990	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.584T>G	17.37:g.7578265A>C	ENSP00000269305:p.Ile195Ser	430	5.86	27		4	95.79	91	7518990	53	22.06	15	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.I195S	ENST00000269305.4	37	c.584	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	14.12	2.439821	0.43326	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	D	0.000004	D	0.99743	0.9898	M	0.85099	2.735	0.54753	D	0.999986	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.996;0.979;0.991;0.996;0.997;0.996	D	0.98579	1.0649	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195S;ENSP00000352610:I195S;ENSP00000269305:I195S;ENSP00000398846:I195S;ENSP00000391127:I195S;ENSP00000391478:I195S;ENSP00000425104:I63S;ENSP00000423862:I102S	ENSP00000269305:I195S	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7518990	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	7578265	A	C	7578265	3	2	133	1	0	0	0	0	1	0	0	0	16378	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-AB-2941-03A-01W-0745-08		7578265	73616945	3	1514											
SYNJ1	8867	genome.wustl.edu	37	21	34067507	34067507	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2941-03A-01W-0745-08	TCGA-AB-2941-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f2dd9aa3-dbe1-49ae-bc4f-ba2574759654	57e0ec3e-72a6-4f13-8af7-93642db05dcf	g.chr21:34067507T>C	ENST00000322229.7	-	4	564	c.565A>G	c.(565-567)Atc>Gtc	p.I189V	SYNJ1_ENST00000382499.2_Missense_Mutation_p.I228V|SYNJ1_ENST00000433931.2_Missense_Mutation_p.I228V|SYNJ1_ENST00000382491.3_Missense_Mutation_p.I189V|SYNJ1_ENST00000357345.3_Missense_Mutation_p.I189V			O43426	SYNJ1_HUMAN	synaptojanin 1	189	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATTGTTCTGATTTCTACTCCT	0.413																																						dbGAP											0			21											148	128	135					21																	34067507		2203	4300	6503	32989378	SO:0001583	missense	0			AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.565A>G	21.37:g.34067507T>C	ENSP00000322234:p.Ile189Val	262	10.77	32		20	57.45	27	32989378	52	39.77	35	O43425|O94984|Q4KMR1	Missense_Mutation	SNP	HMMSmart_SM00128,HMMPfam_Syja_N,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD	p.I189V	ENST00000322229.7	37	c.565	CCDS54484.1	21	.	.	.	.	.	.	.	.	.	.	T	11.30	1.597153	0.28445	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39	4.87	2.45	0.29901	Synaptojanin, N-terminal (2);	0.143379	0.64402	N	0.000011	T	0.47544	0.1451	L	0.41356	1.27	0.49798	D	0.999822	B;B;B;B;B	0.27559	0.106;0.181;0.057;0.176;0.049	B;B;B;B;B	0.39904	0.076;0.196;0.046;0.313;0.013	T	0.33214	-0.9877	10	0.35671	T	0.21	.	9.4048	0.38455	0.0:0.1474:0.0:0.8526	.	189;228;189;189;189	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	V	189;189;228;228;189;189	ENSP00000371931:I189V;ENSP00000349903:I189V;ENSP00000371939:I228V;ENSP00000409667:I228V;ENSP00000322234:I189V;ENSP00000413649:I189V	ENSP00000322234:I189V	I	-	1	0	SYNJ1	32989378	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	1.890000	0.39728	0.310000	0.22990	0.529000	0.55759	ATC	-	HMMPfam_Syja_N		0.413	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	SYNJ1	protein_coding		T			32989378	-1	no_errors	NM_003895.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	34067507	T	C	34067507	3	2	133	1	0	0	0	0	1	0	0	0	15449	1493	52	3	4302	3	SYNJ1	21	34067507	Missense_Mutation	SNP	T	TCGA-AB-2941-03A-01W-0745-08		34067507	14062388	4	1515											
TCEAL3	85012	genome.wustl.edu	37	X	102864442	102864442	+	Silent	SNP	A	A	G			TCGA-AB-2941-03A-01W-0745-08	TCGA-AB-2941-11A-01W-0745-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f2dd9aa3-dbe1-49ae-bc4f-ba2574759654	57e0ec3e-72a6-4f13-8af7-93642db05dcf	g.chrX:102864442A>G	ENST00000372628.1	+	3	808	c.450A>G	c.(448-450)caA>caG	p.Q150Q	TCEAL3_ENST00000372627.5_Silent_p.Q150Q|TCEAL3_ENST00000243286.3_Silent_p.Q150Q|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q150Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CAAGGGCTCAAGAGGAGCTAA	0.512																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											293	254	267					X																	102864442		2203	4300	6503	102751098	SO:0001819	synonymous_variant	0			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.450A>G	X.37:g.102864442A>G		206	3.67	8		14	0	0	102751098	120	24.05	38	D3DXA4	Silent	SNP	HMMPfam_TFA	p.Q150	ENST00000372628.1	37	c.450	CCDS14511.1	X																																																																																			-	HMMPfam_TFA		0.512	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	protein_coding	OTTHUMT00000057737.1	A	NM_032926		102751098	1	no_errors	NM_001006933.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	G	G	102864442	A	G	102864442	2	3	133	1	0	0	0	0	0	0	0	1	15669	69	3	3		3	TCEAL3	23	102864442	Silent	SNP	A	TCGA-AB-2941-03A-01W-0745-08		102864442	52406118	5	1516											
FLT3	2322	genome.wustl.edu	37	13	28608258	28608259	+	In_Frame_Ins	INS	-	-	TATTCATATTCTCTGAAATCAACG			TCGA-AB-2942-03A-01W-0733-08	TCGA-AB-2942-11A-01W-0732-08	-	-	-	TATTCATATTCTCTGAAATCAACG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	af220cc1-d206-4eee-ba61-256dd5624cf7	90bd2936-35ee-4255-b200-e25c8f4c5b61	g.chr13:28608258_28608259insTATTCATATTCTCTGAAATCAACG	ENST00000241453.7	-	14	1878_1879	c.1797_1798insCGTTGATTTCAGAGAATATGAATA	c.(1795-1800)tatgat>tatCGTTGATTTCAGAGAATATGAATAgat	p.599_600YD>YR*FQRI*ID	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600YD>YR*FQRI*ID|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600YD>YR*FQRI*ID	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y599_D600insPAPQIMSTSTLISENMNIA(2)|p.Y599_D600ins15(2)|p.D600_L601insVDFREYEY(1)|p.E598_Y599insWDFREYE(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTTGAGATCATATTCATATT	0.371			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	6	Insertion - In frame(6)	haematopoietic_and_lymphoid_tissue(6)	13																																								27506259	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1797_1798insCGTTGATTTCAGAGAATATGAATA	13.37:g.28608258_28608259insTATTCATATTCTCTGAAATCAACG	ENSP00000241453:p.Tyr599_Asp600insArg*PheGlnArgIle*Ile								27506258				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.DLKW599in_frame_insR*	ENST00000241453.7	37	c.1798_1797	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.371	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506259	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	TATTCATATTCTCTGAAATCAACG	TATTCATATTCTCTGAAATCAACG	28608259	-	TATTCATATTCTCTGAAATCAACG	28608258	7	5	134	1	0	1	1	0	0	0	0	0	5942	826	29	0	1227	0	FLT3	13	28608258	In_Frame_Ins	INS	-	TCGA-AB-2942-03A-01W-0733-08		28608258	86561620	1	1517											
PRAMEF11	440560	genome.wustl.edu	37	1	12884983	12884983	+	Silent	SNP	C	C	T	rs565253612	byFrequency	TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr1:12884983C>T	ENST00000535591.1	-	4	1323	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	376					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AACTTTCCTGCGGGGCAGGAT	0.502													.|||	5	0.000998403	0	0	5008	,	,		22726	0.003		0	False		,,,				2504	0.002					dbGAP											0			1											96	71	79					1																	12884983		692	1590	2282	12807570	SO:0001819	synonymous_variant	0			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"-"	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.1128G>A	1.37:g.12884983C>T		44	0	0					12807570	61	21.79	17		Missense_Mutation	SNP	NULL	p.R453H	ENST00000535591.1	37	c.1358	CCDS53268.1	1																																																																																			-	NULL		0.502	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	protein_coding		C	XM_496341		12807570	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	XM_001714837.1	genbank	human	model	54_36p	missense	SNP	0.033	T	T	12884983	C	T	12884983	2	4	135	1	0	0	0	0	0	0	0	1	12427	755	27	1		1	PRAMEF11	1	12884983	Silent	SNP	C	TCGA-AB-2943-03A-01W-0745-08		12884983	236365638	1	1518											
USP48	84196	genome.wustl.edu	37	1	22033076	22033076	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr1:22033076C>A	ENST00000308271.9	-	17	2743	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	USP48_ENST00000400301.1_Nonsense_Mutation_p.E699*|USP48_ENST00000529637.1_Nonsense_Mutation_p.E711*|USP48_ENST00000374732.3_Nonsense_Mutation_p.E237*	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	699					ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CCTTCTCTTTCTAAAATCTGA	0.438																																						dbGAP											0			1											97	98	97					1																	22033076		2203	4300	6503	21905663	SO:0001587	stop_gained	0			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"Ubiquitin-specific peptidases"	18533	protein-coding gene	gene with protein product			"ubiquitin specific protease 31", "ubiquitin specific protease 48"	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2095G>T	1.37:g.22033076C>A	ENSP00000309262:p.Glu699*	120	0	0		56	48.62	53	21905663	146	52.72	165	B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Nonsense_Mutation	SNP	HMMPfam_UCH,PatternScan_UCH_2_2,superfamily_Cysteine proteinases,superfamily_Ubiquitin-like	p.E699*	ENST00000308271.9	37	c.2095	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.112111	0.98659	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.0088	0.92863	0.0:1.0:0.0:0.0	.	.	.	.	X	699;699;237;711	.	ENSP00000309262:E699X	E	-	1	0	USP48	21905663	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.759000	0.74934	2.745000	0.94114	0.557000	0.71058	GAA	-	NULL		0.438	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	protein_coding	OTTHUMT00000021372.1	C	NM_032236		21905663	-1	no_errors	NM_032236.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	22033076	C	A	22033076	4	1	135	1	0	0	0	0	0	1	0	0	17076	922	32	4	1056	4	USP48	1	22033076	Nonsense_Mutation	SNP	C	TCGA-AB-2943-03A-01W-0745-08	9148093	22033076	227217545	2	1519											
CACNA2D3	55799	genome.wustl.edu	37	3	54930839	54930839	+	Nonsense_Mutation	SNP	C	C	A	rs548413237		TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr3:54930839C>A	ENST00000474759.1	+	26	2358	c.2310C>A	c.(2308-2310)taC>taA	p.Y770*	CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.Y676*|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.Y770*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.Y770*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	770						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	CTCTCTGGTACCGAAGAGCCG	0.522																																						dbGAP											0			3											120	121	121					3																	54930839		1972	4153	6125	54905879	SO:0001587	stop_gained	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2310C>A	3.37:g.54930839C>A	ENSP00000419101:p.Tyr770*	77	2.53	2					54905879	169	31.87	80	B2RPL6|Q9NY16|Q9NY18	Nonsense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Cache_1,HMMPfam_VWA_N,superfamily_vWA-like	p.Y770*	ENST00000474759.1	37	c.2310	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	40	8.203584	0.98704	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	.	.	.	5.54	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3092	0.43699	0.0:0.8448:0.0:0.1552	.	.	.	.	X	770;770;770;676;676	.	ENSP00000288197:Y770X	Y	+	3	2	CACNA2D3	54905879	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.159000	0.42339	1.471000	0.48121	0.655000	0.94253	TAC	-	NULL		0.522	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	C			54905879	1	no_errors	NM_018398.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	54930839	C	A	54930839	4	1	135	1	0	0	0	0	0	1	0	0	2550	518	18	4	2412	4	CACNA2D3	3	54930839	Nonsense_Mutation	SNP	C	TCGA-AB-2943-03A-01W-0745-08		54930839	143091591	3	1520											
CADPS	8618	genome.wustl.edu	37	3	62578313	62578313	+	Splice_Site	SNP	C	C	T	rs147388715		TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr3:62578313C>T	ENST00000383710.4	-	7	1785	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	CADPS_ENST00000357948.3_Splice_Site_p.R479Q|CADPS_ENST00000283269.9_Splice_Site_p.R479Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	479	C2.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGTGCTTACCCGCCCAAGCTC	0.562																																						dbGAP											0			3						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	140	124	130		1436,1436,1436	5.4	1	3	dbSNP_134	130	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	CADPS	NM_003716.3,NM_183393.2,NM_183394.2	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	479/1354,479/1275,479/1315	62578313	1,13005	2203	4300	6503	62553353	SO:0001630	splice_region_variant	0			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"Pleckstrin homology (PH) domain containing"	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1437+1G>A	3.37:g.62578313C>T		107	0	0					62553353	161	19	38	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	HMMPfam_C2,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_DUF1041,superfamily_PH domain-like	p.R479Q	ENST00000383710.4	37	c.1436	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577818	0.86645	0.0	1.16E-4	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.70986	-0.53;-0.53;-0.53	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);	0.000000	0.85682	D	0.000000	T	0.75503	0.3858	M	0.63843	1.955	0.80722	D	1	D;P;P	0.55385	0.971;0.681;0.913	P;B;B	0.47864	0.559;0.093;0.062	T	0.78193	-0.2299	10	0.59425	D	0.04	.	19.5461	0.95297	0.0:1.0:0.0:0.0	.	479;479;479	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	Q	479	ENSP00000373215:R479Q;ENSP00000350632:R479Q;ENSP00000283269:R479Q	ENSP00000283269:R479Q	R	-	2	0	CADPS	62553353	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.902000	0.56310	2.688000	0.91661	0.655000	0.94253	CGG	-	HMMPfam_C2		0.562	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394	Missense_Mutation	62553353	-1	no_errors	NM_003716.3	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	62578313	C	T	62578313	5	4	135	1	0	0	0	0	0	0	1	0	2570	666	23	1	2794	1	CADPS	3	62578313	Splice_Site	SNP	C	TCGA-AB-2943-03A-01W-0745-08	7647474	62578313	135444117	4	1521											
PRICKLE2	166336	genome.wustl.edu	37	3	64085285	64085285	+	Silent	SNP	G	G	A	rs376252127		TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr3:64085285G>A	ENST00000295902.6	-	8	2562	c.1977C>T	c.(1975-1977)ggC>ggT	p.G659G	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.G715G	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	659					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGATCCTCACGCCCTCCTGCC	0.607													G|||	1	0.000199681	8e-04	0	5008	,	,		18413	0		0	False		,,,				2504	0					dbGAP											0			3						G		1,4405	2.1+/-5.4	0,1,2202	73	68	70		1977	-4.4	0.2	3		70	0,8600		0,0,4300	no	coding-synonymous	PRICKLE2	NM_198859.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		659/845	64085285	1,13005	2203	4300	6503	64060325	SO:0001819	synonymous_variant	0			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"prickle-like 2 (Drosophila)"			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1977C>T	3.37:g.64085285G>A		35	0	0					64060325	86	25.83	31	Q0VF44	Silent	SNP	HMMPfam_LIM,HMMSmart_LIM,PatternScan_LIM_DOMAIN_1,HMMPfam_PET,superfamily_SSF57716	p.G659	ENST00000295902.6	37	c.1977	CCDS2902.1	3																																																																																			-	NULL		0.607	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	protein_coding	OTTHUMT00000352219.1	G	NM_198859		64060325	-1	no_errors	NM_198859.3	genbank	human	validated	54_36p	silent	SNP	0.036	A	A	64085285	G	A	64085285	2	1	135	1	0	0	0	0	0	0	0	1	12487	1074	38	1		1	PRICKLE2	3	64085285	Silent	SNP	G	TCGA-AB-2943-03A-01W-0745-08	1506972	64085285	133937145	5	1522											
EPHA3	2042	genome.wustl.edu	37	3	89528572	89528572	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr3:89528572G>A	ENST00000336596.2	+	17	3097	c.2872G>A	c.(2872-2874)Gtg>Atg	p.V958M	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	958	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGTGTCACCGTGGTTGGGCC	0.413										TSP Lung(6;0.00050)																												dbGAP											0			3											91	81	85					3																	89528572		2203	4300	6503	89611262	SO:0001583	missense	0			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3387	protein-coding gene	gene with protein product		179611	"EphA3"	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2872G>A	3.37:g.89528572G>A	ENSP00000337451:p.Val958Met	65	0	0					89611262	104	26.9	39	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	HMMPfam_Ephrin_lbd,HMMSmart_SM00615,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMSmart_SM00454,HMMSmart_SM00220,HMMPfam_fn3,HMMSmart_SM00060,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Galactose-binding domain-like,superfamily_SAM/Pointed domain,superfamily_Protein kinase-like (PK-like),HMMPfam_SAM_2,PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP	p.V958M	ENST00000336596.2	37	c.2872	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502560	0.44455	.	.	ENSG00000044524	ENST00000336596	D	0.84660	-1.88	5.72	4.83	0.62350	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.108661	0.64402	D	0.000007	T	0.67107	0.2858	N	0.02539	-0.55	0.80722	D	1	P	0.52463	0.953	P	0.45856	0.495	T	0.66740	-0.5847	9	.	.	.	.	9.0086	0.36127	0.206:0.0:0.794:0.0	.	958	P29320	EPHA3_HUMAN	M	958	ENSP00000337451:V958M	.	V	+	1	0	EPHA3	89611262	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	3.091000	0.50199	2.857000	0.98124	0.650000	0.86243	GTG	-	HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2		0.413	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	protein_coding	OTTHUMT00000352995.1	G	NM_005233		89611262	1	no_errors	NM_005233.5	genbank	human	reviewed	54_36p	missense	SNP	0.994	A	A	89528572	G	A	89528572	3	1	135	1	0	0	0	0	1	0	0	0	5168	1145	40	1	2964	1	EPHA3	3	89528572	Missense_Mutation	SNP	G	TCGA-AB-2943-03A-01W-0745-08	25443287	89528572	108493858	6	1523											
YEATS2	55689	genome.wustl.edu	37	3	183521065	183521065	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr3:183521065C>T	ENST00000305135.5	+	26	3719	c.3524C>T	c.(3523-3525)tCt>tTt	p.S1175F	AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1175					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGCTGCTTTTCTGCAAAGTCT	0.512																																						dbGAP											0			3											81	84	83					3																	183521065		1954	4151	6105	185003759	SO:0001583	missense	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3524C>T	3.37:g.183521065C>T	ENSP00000306983:p.Ser1175Phe	92	0	0		27	12.9	4	185003759	103	28.86	43	A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	HMMPfam_YEATS	p.S1175F	ENST00000305135.5	37	c.3524	CCDS43175.1	3	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776324	0.70107	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	D	0.86366	-2.11	5.65	4.76	0.60689	.	0.059228	0.64402	D	0.000002	T	0.80722	0.4677	L	0.38175	1.15	0.41019	D	0.985069	P	0.46395	0.877	B	0.38562	0.276	D	0.84062	0.0375	10	0.87932	D	0	-18.9128	12.925	0.58254	0.0:0.603:0.397:0.0	.	1175	Q9ULM3	YETS2_HUMAN	F	1175	ENSP00000306983:S1175F	ENSP00000306983:S1175F	S	+	2	0	YEATS2	185003759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.795000	0.69074	2.662000	0.90505	0.655000	0.94253	TCT	-	NULL		0.512	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	protein_coding	OTTHUMT00000346507.2	C	NM_018023		185003759	1	no_errors	NM_018023.3	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	183521065	C	T	183521065	3	4	135	1	0	0	0	0	1	0	0	0	17469	913	32	2	3622	2	YEATS2	3	183521065	Missense_Mutation	SNP	C	TCGA-AB-2943-03A-01W-0745-08	93992493	183521065	14501365	7	1524											
C6orf106	64771	genome.wustl.edu	37	6	34622530	34622530	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr6:34622530T>C	ENST00000374023.3	-	2	428	c.185A>G	c.(184-186)tAt>tGt	p.Y62C	C6orf106_ENST00000374021.1_5'UTR|C6orf106_ENST00000374026.3_Missense_Mutation_p.Y62C	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	62										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AAAGTCATAATAGGCGCCAAT	0.408																																						dbGAP											0			6											118	114	115					6																	34622530		2203	4300	6503	34730508	SO:0001583	missense	0			AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.185A>G	6.37:g.34622530T>C	ENSP00000363135:p.Tyr62Cys	56	1.75	1		65	26.97	24	34730508	145	31.78	68	B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	superfamily_UBA-like	p.Y62C	ENST00000374023.3	37	c.185	CCDS4796.1	6	.	.	.	.	.	.	.	.	.	.	T	18.02	3.530962	0.64972	.	.	ENSG00000196821	ENST00000374023;ENST00000374026	.	.	.	5.44	5.44	0.79542	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.64382	0.2593	M	0.82193	2.58	0.80722	D	1	P;B	0.40211	0.707;0.246	P;B	0.44921	0.464;0.086	T	0.72760	-0.4196	9	0.87932	D	0	-7.2938	15.8043	0.78481	0.0:0.0:0.0:1.0	.	62;62	Q9H6K1-2;Q9H6K1	.;CF106_HUMAN	C	62	.	ENSP00000363135:Y62C	Y	-	2	0	C6orf106	34730508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.197000	0.70478	0.528000	0.53228	TAT	-	superfamily_UBA-like		0.408	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C6orf106	protein_coding	OTTHUMT00000040251.1	T	NM_022758		34730508	-1	no_errors	NM_024294.4	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	34622530	T	C	34622530	3	2	135	1	0	0	0	0	1	0	0	0	2319	1406	49	3	727	3	C6orf106	6	34622530	Missense_Mutation	SNP	T	TCGA-AB-2943-03A-01W-0745-08		34622530	136492537	8	1525											
ATP6V1C1	528	genome.wustl.edu	37	8	104068114	104068114	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr8:104068114G>T	ENST00000395862.3	+	8	750	c.591G>T	c.(589-591)tgG>tgT	p.W197C	ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.W122C|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.W197C|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.W122C	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	197					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ACAACGACTGGATTAAGCAGT	0.363																																						dbGAP											0			8											121	105	110					8																	104068114		2203	4300	6503	104137290	SO:0001583	missense	0			X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"ATPases / V-type"	856	protein-coding gene	gene with protein product		603097	"ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.591G>T	8.37:g.104068114G>T	ENSP00000379203:p.Trp197Cys	54	0	0		43	48.81	41	104137290	149	31.82	70		Missense_Mutation	SNP	HMMPfam_V-ATPase_C	p.W197C	ENST00000395862.3	37	c.591	CCDS6296.1	8	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554560	0.86231	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84763	0.5544	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88933	0.3374	10	0.87932	D	0	.	19.9651	0.97262	0.0:0.0:1.0:0.0	.	197	P21283	VATC1_HUMAN	C	122;197;122;197	ENSP00000428204:W122C;ENSP00000379203:W197C;ENSP00000430129:W122C;ENSP00000430282:W197C	ENSP00000379203:W197C	W	+	3	0	ATP6V1C1	104137290	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	TGG	-	HMMPfam_V-ATPase_C		0.363	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1C1	protein_coding	OTTHUMT00000380101.1	G	NM_001695		104137290	1	no_errors	NM_001695.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	104068114	G	T	104068114	3	4	135	1	0	0	0	0	1	0	0	0	1180	1183	41	4	617	4	ATP6V1C1	8	104068114	Missense_Mutation	SNP	G	TCGA-AB-2943-03A-01W-0745-08		104068114	42295908	9	1526											
DHTKD1	55526	genome.wustl.edu	37	10	12154955	12154955	+	Silent	SNP	T	T	G			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr10:12154955T>G	ENST00000263035.4	+	13	2273	c.2211T>G	c.(2209-2211)gtT>gtG	p.V737V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	737					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGTTTGTGGTTCACCCAACAA	0.478																																						dbGAP											0			10											190	163	172					10																	12154955		2203	4300	6503	12194961	SO:0001819	synonymous_variant	0			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2211T>G	10.37:g.12154955T>G		183	0	0		19	26.92	7	12194961	161	24.19	52	Q68CU5|Q9BUM8|Q9HCE2	Silent	SNP	HMMPfam_E1_dh,HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding)	p.V737	ENST00000263035.4	37	c.2211	CCDS7087.1	10																																																																																			-	HMMPfam_Transket_pyr,superfamily_Thiamin diphosphate-binding fold (THDP-binding)		0.478	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	protein_coding	OTTHUMT00000046777.1	T	NM_018706		12194961	1	no_errors	NM_018706.5	genbank	human	validated	54_36p	silent	SNP	0.112	G	G	12154955	T	G	12154955	2	3	135	1	0	0	0	0	0	0	0	1	4500	1770	62	5		5	DHTKD1	10	12154955	Silent	SNP	T	TCGA-AB-2943-03A-01W-0745-08		12154955	123379792	10	1527											
FLT1	2321	genome.wustl.edu	37	13	29001448	29001448	+	Silent	SNP	G	G	C			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr13:29001448G>C	ENST00000282397.4	-	10	1535	c.1284C>G	c.(1282-1284)ccC>ccG	p.P428P	FLT1_ENST00000541932.1_Silent_p.P428P|FLT1_ENST00000539099.1_Silent_p.P428P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	428	Ig-like C2-type 5.				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)	CGTAAATCTGGGGTTTCACTG	0.502																																						dbGAP											0			13											70	63	65					13																	29001448		2203	4300	6503	27899448	SO:0001819	synonymous_variant	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.1284C>G	13.37:g.29001448G>C		70	0	0		2	0	0	27899448	109	23.61	34	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	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.P428	ENST00000282397.4	37	c.1284	CCDS9330.1	13																																																																																			-	superfamily_Immunoglobulin		0.502	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	protein_coding	OTTHUMT00000044322.1	G			27899448	-1	no_errors	NM_002019.3	genbank	human	validated	54_36p	silent	SNP	0.997	C	C	29001448	G	C	29001448	2	2	135	1	0	0	0	0	0	0	0	1	5941	1219	43	4		4	FLT1	13	29001448	Silent	SNP	G	TCGA-AB-2943-03A-01W-0745-08		29001448	86168430	11	1528											
SERPINA12	145264	genome.wustl.edu	37	14	94964457	94964457	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr14:94964457C>T	ENST00000341228.2	-	3	1073	c.278G>A	c.(277-279)aGc>aAc	p.S93N	SERPINA12_ENST00000556881.1_Missense_Mutation_p.S93N	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	93					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTCCAGGGTGCTGTCCTGGGC	0.517																																						dbGAP											0			14											89	89	89					14																	94964457		2203	4300	6503	94034210	SO:0001583	missense	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"Serine (or cysteine) peptidase inhibitors"	18359	protein-coding gene	gene with protein product			"serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.278G>A	14.37:g.94964457C>T	ENSP00000342109:p.Ser93Asn	112	0	0					94034210	162	30.64	72		Missense_Mutation	SNP	HMMPfam_Serpin,HMMSmart_SERPIN,PatternScan_SERPIN,superfamily_Prot_inh_serpin	p.S93N	ENST00000341228.2	37	c.278	CCDS9926.1	14	.	.	.	.	.	.	.	.	.	.	C	2.466	-0.323045	0.05350	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87412	-2.25;-2.25	5.59	2.28	0.28536	Serpin domain (3);	1.049790	0.07450	N	0.898841	T	0.78285	0.4259	N	0.20328	0.56	0.09310	N	1	B	0.25441	0.126	B	0.24701	0.055	T	0.63292	-0.6670	10	0.28530	T	0.3	.	9.3954	0.38399	0.0:0.1078:0.5136:0.3785	.	93	Q8IW75	SPA12_HUMAN	N	93	ENSP00000451738:S93N;ENSP00000342109:S93N	ENSP00000342109:S93N	S	-	2	0	SERPINA12	94034210	0.007000	0.16637	0.216000	0.23742	0.002000	0.02628	0.665000	0.25083	0.648000	0.30732	-0.878000	0.02970	AGC	-	HMMPfam_Serpin,HMMSmart_SERPIN,superfamily_Prot_inh_serpin		0.517	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	protein_coding	OTTHUMT00000413097.1	C	NM_173850		94034210	-1	no_errors	NM_173850.2	genbank	human	provisional	54_36p	missense	SNP	0.049	T	T	94964457	C	T	94964457	3	4	135	1	0	0	0	0	1	0	0	0	14089	797	28	2	982	2	SERPINA12	14	94964457	Missense_Mutation	SNP	C	TCGA-AB-2943-03A-01W-0745-08		94964457	12385083	12	1529											
TP53	7157	genome.wustl.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	17	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59					17																	7577121		2203	4300	6503	7517846	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	98	6.54	7		17	88.96	137	7517846	46	74.61	144	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.R273C	ENST00000269305.4	37	c.817	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7517846	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	0.797	A	A	7577121	G	A	7577121	3	1	135	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-AB-2943-03A-01W-0745-08		7577121	73618089	13	1530											
ZNF460	10794	genome.wustl.edu	37	19	57803013	57803013	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr19:57803013A>T	ENST00000360338.3	+	3	1426	c.1104A>T	c.(1102-1104)caA>caT	p.Q368H	ZNF460_ENST00000537645.1_Missense_Mutation_p.Q327H	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	368					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGCAGTCAATGTGGAAAGG	0.493																																						dbGAP											0			19											85	83	83					19																	57803013		2203	4300	6503	62494825	SO:0001583	missense	0			X78931	CCDS12949.1	19q13.4	2013-01-08				ENSG00000197714		"Zinc fingers, C2H2-type", "-"	21628	protein-coding gene	gene with protein product		604755	"zinc finger protein 272"	ZNF272		15004467	Standard	NM_006635		Approved	HZF8	uc002qog.2	Q14592		ENST00000360338.3:c.1104A>T	19.37:g.57803013A>T	ENSP00000353491:p.Gln368His	40	0	0		30	40	20	62494825	90	27.2	34	A4FU64|B4DNX9|Q2VPC7|Q6VSF8	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.Q368H	ENST00000360338.3	37	c.1104	CCDS12949.1	19	.	.	.	.	.	.	.	.	.	.	A	9.865	1.197259	0.22037	.	.	ENSG00000197714	ENST00000537645;ENST00000360338	T;T	0.36520	3.18;1.25	1.68	-3.35	0.04928	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16938	0.0407	N	0.04820	-0.15	0.09310	N	0.999998	P	0.41265	0.744	B	0.39119	0.291	T	0.20974	-1.0259	9	0.87932	D	0	.	8.7057	0.34354	0.6253:0.0:0.3747:0.0	.	368	Q14592	ZN460_HUMAN	H	327;368	ENSP00000446167:Q327H;ENSP00000353491:Q368H	ENSP00000353491:Q368H	Q	+	3	2	ZNF460	62494825	0.000000	0.05858	0.016000	0.15963	0.701000	0.40568	-6.570000	0.00061	-1.339000	0.02230	-1.181000	0.01715	CAA	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.493	ZNF460-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF460	protein_coding	OTTHUMT00000465727.1	A	NM_006635		62494825	1	no_errors	NM_006635.3	genbank	human	validated	54_36p	missense	SNP	0.012	T	T	57803013	A	T	57803013	3	4	135	1	0	0	0	0	1	0	0	0	17921	98	4	5	1114	5	ZNF460	19	57803013	Missense_Mutation	SNP	A	TCGA-AB-2943-03A-01W-0745-08		57803013	1325970	14	1531											
PPPDE2	27351	genome.wustl.edu	37	22	42000072	42000072	+	Missense_Mutation	SNP	G	G	T	rs145019403		TCGA-AB-2943-03A-01W-0745-08	TCGA-AB-2943-11A-01W-0745-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9ffddf15-3f38-4dac-a9f6-2636130c050b	32623a30-c839-4621-a7df-af0b615c01c1	g.chr22:42000072G>T	ENST00000263256.6	-	4	522	c.266C>A	c.(265-267)tCc>tAc	p.S89Y	DESI1_ENST00000463886.1_5'UTR	NM_015704.2	NP_056519.1	Q6ICB0	DESI1_HUMAN	desumoylating isopeptidase 1	89	PPPDE peptidase.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)										CCCCAGGGAGGAGAGGTACTC	0.547																																						dbGAP											0			22											92	95	94					22																	42000072		2203	4300	6503	40330018	SO:0001583	missense	0			AF038183	CCDS33652.1	22q13.2	2012-05-16	2012-05-16	2012-05-16	ENSG00000100418	ENSG00000100418			24577	protein-coding gene	gene with protein product		614637	"family with sequence similarity 152, member B", "PPPDE peptidase domain containing 2"	FAM152B, PPPDE2		8619474, 9110174, 22370726	Standard	NM_015704		Approved	D15Wsu75e	uc003bam.2	Q6ICB0	OTTHUMG00000044632	ENST00000263256.6:c.266C>A	22.37:g.42000072G>T	ENSP00000263256:p.Ser89Tyr	57	1.72	1		179	13.53	28	40330018	97	20.16	25		Missense_Mutation	SNP	HMMPfam_DUF862	p.S89Y	ENST00000263256.6	37	c.266	CCDS33652.1	22	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674274	0.88445	.	.	ENSG00000100418	ENST00000263256	.	.	.	5.74	5.74	0.90152	Domain of unknown function DUF862, eukaryotic (1);	0.000000	0.85682	D	0.000000	T	0.70263	0.3204	L	0.61387	1.9	0.80722	D	1	P	0.45634	0.863	P	0.47915	0.561	T	0.72283	-0.4339	9	0.72032	D	0.01	-29.5061	20.3473	0.98799	0.0:0.0:1.0:0.0	.	89	Q6ICB0	PPDE2_HUMAN	Y	89	.	ENSP00000263256:S89Y	S	-	2	0	PPPDE2	40330018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.952000	0.87827	2.890000	0.99128	0.650000	0.86243	TCC	-	HMMPfam_DUF862		0.547	DESI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PPPDE2	protein_coding	OTTHUMT00000104124.3	G	NM_015704		40330018	-1	no_errors	NM_015704.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	42000072	G	T	42000072	3	4	135	1	0	0	0	0	1	0	0	0	12409	1174	41	4	252	4	PPPDE2	22	42000072	Missense_Mutation	SNP	G	TCGA-AB-2943-03A-01W-0745-08		42000072	9304494	15	1532											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	184	6	12					25310746	15	58.33	21	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	136	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2945-03A-01W-0733-08		25457242	217742131	1	1533											
NBEAL1	65065	genome.wustl.edu	37	2	204045161	204045161	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr2:204045161T>C	ENST00000449802.1	+	42	6767	c.6434T>C	c.(6433-6435)aTg>aCg	p.M2145T		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2145	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAAGCTCTTATGGATAATCCA	0.323																																						dbGAP											0			2											119	112	114					2																	204045161		1830	4087	5917	203753406	SO:0001583	missense	0			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"WD repeat domain containing"	20681	protein-coding gene	gene with protein product		609816	"amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17", "amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6434T>C	2.37:g.204045161T>C	ENSP00000399903:p.Met2145Thr	81	4.71	4					203753406	46	36.11	26	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	HMMPfam_Beach,superfamily_BEACH domain,HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40,superfamily_PH domain-like	p.M855T	ENST00000449802.1	37	c.2564	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	T	22.9	4.345244	0.82022	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.75704	-0.96;-0.96	5.85	5.85	0.93711	BEACH domain (4);	0.038768	0.85682	D	0.000000	T	0.75939	0.3918	N	0.16266	0.395	0.80722	D	1	D;D	0.65815	0.995;0.969	D;P	0.77557	0.99;0.879	T	0.74380	-0.3684	10	0.24483	T	0.36	.	15.9036	0.79403	0.0:0.0:0.0:1.0	.	2145;2134	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	T	2145;2145;160	ENSP00000399903:M2145T;ENSP00000388466:M160T	ENSP00000344985:M2145T	M	+	2	0	NBEAL1	203753406	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.841000	0.86834	2.234000	0.73211	0.533000	0.62120	ATG	-	HMMPfam_Beach,superfamily_BEACH domain		0.323	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	protein_coding	OTTHUMT00000333982.4	T			203753406	1	no_errors	NM_001099273.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	204045161	T	C	204045161	3	2	136	1	0	0	0	0	1	0	0	0	10188	1464	51	3	6596	3	NBEAL1	2	204045161	Missense_Mutation	SNP	T	TCGA-AB-2945-03A-01W-0733-08	178587919	204045161	39154212	2	1534											
IDH1	3417	genome.wustl.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	2											79	73	75					2																	209113112		2203	4300	6503	208821357	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His	70	2.7	2					208821357	33	29.17	14	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132H	ENST00000415913.1	37	c.395	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	C			208821357	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	209113112	C	T	209113112	3	4	136	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-AB-2945-03A-01W-0733-08	5067951	209113112	34086261	3	1535											
KIT	3815	genome.wustl.edu	37	4	55599321	55599321	+	Missense_Mutation	SNP	A	A	T	rs121913507		TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr4:55599321A>T	ENST00000288135.5	+	17	2544	c.2447A>T	c.(2446-2448)gAc>gTc	p.D816V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|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 pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D816V(758)|p.D816F(6)|p.D816I(2)|p.D816G(2)|p.D816>VVA(1)|p.D816A(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTAGCCAGAGACATCAAGAAT	0.393		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													dbGAP	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"L, M, O, E"	770	Substitution - Missense(769)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(745)|testis(16)|ovary(5)|skin(2)|soft_tissue(1)|genital_tract(1)	4	GRCh37	CM952169	KIT	M	rs121913507						145	146	145					4																	55599321		2203	4300	6503	55294078	SO:0001583	missense	0	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6342	protein-coding gene	gene with protein product		164920	"piebald trait"	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2447A>T	4.37:g.55599321A>T	ENSP00000288135:p.Asp816Val	74	5	4					55294078	23	55.77	29	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_IGc2,HMMSmart_IG,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D816V	ENST00000288135.5	37	c.2447	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	A	27.4	4.831107	0.91036	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83591	-1.74;-1.74	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.85093	0.5618	N	0.21097	0.63	0.80722	A	1	D;D	0.71674	0.998;0.991	D;D	0.68943	0.961;0.933	D	0.88419	0.3027	9	0.87932	D	0	.	15.8126	0.78576	1.0:0.0:0.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	V	816;812	ENSP00000288135:D816V;ENSP00000390987:D812V	ENSP00000288135:D816V	D	+	2	0	KIT	55294078	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.181000	0.94874	2.148000	0.66965	0.477000	0.44152	GAC	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	protein_coding	OTTHUMT00000250618.1	A			55294078	1	no_errors	NM_000222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	55599321	A	T	55599321	3	4	136	1	0	0	0	0	1	0	0	0	8329	275	10	5	2513	5	KIT	4	55599321	Missense_Mutation	SNP	A	TCGA-AB-2945-03A-01W-0733-08		55599321	135554955	4	1536											
ADAMTS12	81792	genome.wustl.edu	37	5	33637780	33637780	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr5:33637780C>T	ENST00000504830.1	-	12	2125	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R597H|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	597	Cys-rich.|TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCCTCTGAGCGACAGGGGTG	0.458										HNSCC(64;0.19)																												dbGAP											0			5											147	138	141					5																	33637780		2203	4300	6503	33673537	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"ADAM metallopeptidases with thrombospondin type 1 motif"	14605	protein-coding gene	gene with protein product		606184	"a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1790G>A	5.37:g.33637780C>T	ENSP00000422554:p.Arg597His	122	7.52	10					33673537	98	30.5	43	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_Reprolysin,HMMPfam_Pep_M12B_propep,HMMPfam_ADAM_spacer1,superfamily_Metalloproteases ("zincins") catalytic domain	p.R597H	ENST00000504830.1	37	c.1790	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286359	0.40494	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.03580	3.88;3.88	6.06	0.913	0.19354	.	0.524293	0.22808	N	0.055381	T	0.02571	0.0078	N	0.22421	0.69	0.09310	N	0.999992	B;B	0.18741	0.03;0.009	B;B	0.12156	0.007;0.006	T	0.41787	-0.9489	10	0.46703	T	0.11	.	5.9501	0.19242	0.1036:0.3348:0.439:0.1226	.	597;597	P58397-3;P58397	.;ATS12_HUMAN	H	597	ENSP00000422554:R597H;ENSP00000344847:R597H	ENSP00000344847:R597H	R	-	2	0	ADAMTS12	33673537	0.001000	0.12720	0.024000	0.17045	0.961000	0.63080	-0.042000	0.12063	0.126000	0.18424	0.650000	0.86243	CGC	-	HMMSmart_SM00209		0.458	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33673537	-1	no_errors	NM_030955.2	genbank	human	reviewed	54_36p	missense	SNP	0.082	T	T	33637780	C	T	33637780	3	4	136	1	0	0	0	0	1	0	0	0	257	768	27	1	3046	1	ADAMTS12	5	33637780	Missense_Mutation	SNP	C	TCGA-AB-2945-03A-01W-0733-08		33637780	147277480	5	1537											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	136	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2945-03A-01W-0733-08	137199767	170837547	10077713	6	1538											
SPACA1	81833	genome.wustl.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	A	rs373094172		TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr6:88763681G>A	ENST00000237201.1	+	2	343	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348																																						dbGAP											0			6						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	87	85	86		226	1.9	0.4	6		86	0,8600		0,0,4300	no	missense	SPACA1	NM_030960.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	76/295	88763681	1,13005	2203	4300	6503	88820400	SO:0001583	missense	0			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.226G>A	6.37:g.88763681G>A	ENSP00000237201:p.Val76Ile	94	4.08	4					88820400	57	25.97	20		Missense_Mutation	SNP	NULL	p.V76I	ENST00000237201.1	37	c.226	CCDS5014.1	6	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341902	0.24339	2.27E-4	0.0	ENSG00000118434	ENST00000237201	T	0.21734	1.99	5.97	1.93	0.25924	.	0.811387	0.10979	N	0.612887	T	0.06462	0.0166	M	0.65975	2.015	0.09310	N	1	B	0.33494	0.414	B	0.21360	0.034	T	0.35325	-0.9793	10	0.56958	D	0.05	-6.9977	1.9497	0.03364	0.1539:0.1154:0.3434:0.3873	.	76	Q9HBV2	SACA1_HUMAN	I	76	ENSP00000237201:V76I	ENSP00000237201:V76I	V	+	1	0	SPACA1	88820400	0.792000	0.28813	0.363000	0.25875	0.182000	0.23217	0.669000	0.25142	0.388000	0.25054	0.650000	0.86243	GTC	-	NULL		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPACA1	protein_coding	OTTHUMT00000041459.1	G			88820400	1	no_errors	NM_030960.2	genbank	human	reviewed	54_36p	missense	SNP	0.426	A	A	88763681	G	A	88763681	3	1	136	1	0	0	0	0	1	0	0	0	14972	1145	40	1	232	1	SPACA1	6	88763681	Missense_Mutation	SNP	G	TCGA-AB-2945-03A-01W-0733-08		88763681	82351386	7	1539											
C10orf120	399814	genome.wustl.edu	37	10	124457269	124457269	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr10:124457269C>G	ENST00000329446.4	-	3	1019	c.988G>C	c.(988-990)Gca>Cca	p.A330P		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	330										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TAAGGAGTTGCTTTACGCATG	0.453																																						dbGAP											0			10											89	87	88					10																	124457269		2203	4300	6503	124447259	SO:0001583	missense	0				CCDS31302.1	10q26.13	2012-06-12			ENSG00000183559	ENSG00000183559			25707	protein-coding gene	gene with protein product							Standard	NM_001010912		Approved	bA318C4.1	uc001lgn.3	Q5SQS8	OTTHUMG00000019187	ENST00000329446.4:c.988G>C	10.37:g.124457269C>G	ENSP00000331012:p.Ala330Pro	171	5.41	10					124447259	68	37.61	41	B2RU17	Missense_Mutation	SNP	NULL	p.A330P	ENST00000329446.4	37	c.988	CCDS31302.1	10	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764188	0.49574	.	.	ENSG00000183559	ENST00000329446	T	0.40476	1.03	4.49	-3.98	0.04082	.	1.343400	0.04926	N	0.455896	T	0.20251	0.0487	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.10200	-1.0640	10	0.30854	T	0.27	2.0609	0.3823	0.00397	0.2598:0.2426:0.2723:0.2253	.	330	Q5SQS8	CJ120_HUMAN	P	330	ENSP00000331012:A330P	ENSP00000331012:A330P	A	-	1	0	C10orf120	124447259	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.841000	0.01683	-0.774000	0.04590	0.655000	0.94253	GCA	-	NULL		0.453	C10orf120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf120	protein_coding	OTTHUMT00000050803.1	C	NM_001010912		124447259	-1	no_errors	NM_001010912.1	genbank	human	predicted	54_36p	missense	SNP	0.000	G	G	124457269	C	G	124457269	3	3	136	1	0	0	0	0	1	0	0	0	1590	797	28	4	23	4	C10orf120	10	124457269	Missense_Mutation	SNP	C	TCGA-AB-2945-03A-01W-0733-08		124457269	11077478	8	1540											
DTX4	23220	genome.wustl.edu	37	11	58949357	58949357	+	Silent	SNP	G	G	A			TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr11:58949357G>A	ENST00000227451.3	+	2	461	c.357G>A	c.(355-357)aaG>aaA	p.K119K	DTX4_ENST00000532982.1_Silent_p.K13K	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	119	WWE 2. {ECO:0000255|PROSITE- ProRule:PRU00248}.				innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCTATGAGAAGCAGCACCCCT	0.587																																						dbGAP											0			11											137	144	142					11																	58949357		2193	4295	6488	58705933	SO:0001819	synonymous_variant	0			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"RING-type (C3HC4) zinc fingers"	29151	protein-coding gene	gene with protein product			"deltex 4 homolog (Drosophila)", "deltex homolog 4 (Drosophila)"			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.357G>A	11.37:g.58949357G>A		178	5.79	11					58705933	25	44.44	20	Q0VF38	Silent	SNP	HMMSmart_SM00184,HMMPfam_WWE,HMMSmart_SM00678,HMMPfam_zf-C3HC4,superfamily_RING/U-box	p.K119	ENST00000227451.3	37	c.357	CCDS44612.1	11																																																																																			-	HMMPfam_WWE,HMMSmart_SM00678		0.587	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	protein_coding	OTTHUMT00000394228.1	G	XM_166213		58705933	1	no_errors	NM_015177.1	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	58949357	G	A	58949357	2	1	136	1	0	0	0	0	0	0	0	1	4797	962	34	2		2	DTX4	11	58949357	Silent	SNP	G	TCGA-AB-2945-03A-01W-0733-08		58949357	76057159	9	1541											
POLA2	23649	genome.wustl.edu	37	11	65029832	65029836	+	Frame_Shift_Del	DEL	AATTG	AATTG	-	rs377753893		TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	AATTG	AATTG	AATTG	-	AATTG	AATTG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr11:65029832_65029836delAATTG	ENST00000265465.3	+	1	600_604	c.69_73delAATTG	c.(67-75)ctaattgagfs	p.IE24fs	POLA2_ENST00000541089.1_5'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	24					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	AGGAGGCTCTAATTGAGAAATGTGA	0.659																																						dbGAP											0			11																																								64786412	SO:0001589	frameshift_variant	0			BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"DNA polymerases"	30073	protein-coding gene	gene with protein product	"DNA polymerase alpha subunit B", "DNA polymerase alpha 70 kDa subunit"		"polymerase (DNA directed), alpha 2 (70kD subunit)"			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.69_73delAATTG	11.37:g.65029832_65029836delAATTG	ENSP00000265465:p.Ile24fs								64786408				B4DNB4|Q9BPV3	Frame_Shift_Del	DEL	HMMPfam_DNA_pol_E_B,HMMPfam_Pol_alpha_B_N	p.I24fs	ENST00000265465.3	37	c.69_73	CCDS8098.1	11																																																																																			-	HMMPfam_Pol_alpha_B_N		0.659	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	protein_coding	OTTHUMT00000387223.1	AATTG	NM_002689		64786412	1	no_errors	NM_002689.2	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.000:0.000:0.000:0.004:0.836	-	-	65029836	AATTG	-	65029832	7	5	136	1	0	1	0	1	0	0	0	0	12188	349	13	0	71	0	POLA2	11	65029832	Frame_Shift_Del	DEL	AATTG	TCGA-AB-2945-03A-01W-0733-08	6080475	65029832	69976684	10	1542											
CARD18	59082	genome.wustl.edu	37	11	105009793	105009793	+	Missense_Mutation	SNP	C	C	T	rs200342430		TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr11:105009793C>T	ENST00000530950.1	-	2	19	c.20G>A	c.(19-21)cGt>cAt	p.R7H	CARD18_ENST00000532895.1_5'UTR|CARD18_ENST00000526823.1_5'UTR	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	7	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				inflammatory response (GO:0006954)|regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)			central_nervous_system(1)|ovary(1)	2						TCTCTTTTTACGCAAGAGTTG	0.378													c|||	1	0.000199681	8e-04	0	5008	,	,		21676	0		0	False		,,,				2504	0					dbGAP											0			11							HIS/ARG	2,3694		0,2,1846	107	94	98		20	-5.3	0	11		98	0,8210		0,0,4105	yes	missense	CARD18	NM_021571.3	29	0,2,5951	TT,TC,CC		0.0,0.0541,0.0168	probably-damaging	7/91	105009793	2,11904	1848	4105	5953	104515003	SO:0001583	missense	0			AY358231	CCDS53705.1	11q22.3	2008-09-02				ENSG00000255501			28861	protein-coding gene	gene with protein product		605354				11051551	Standard	NM_021571		Approved	UNQ5804, ICEBERG, pseudo-ICE	uc021qpy.1	P57730		ENST00000530950.1:c.20G>A	11.37:g.105009793C>T	ENSP00000436691:p.Arg7His	170	11.34	22					104515003	76	45.77	65	A2RRF8	Missense_Mutation	SNP	HMMPfam_CARD,HMMSmart_CARD,superfamily_DEATH_like	p.R7H	ENST00000530950.1	37	c.20	CCDS53705.1	11	.	.	.	.	.	.	.	.	.	.	.	0.053	-1.245739	0.01481	5.41E-4	0.0	ENSG00000255501	ENST00000530950	T	0.23754	1.89	2.63	-5.26	0.02772	DEATH-like (2);Caspase Recruitment (3);	0.640881	0.13227	U	0.403955	T	0.26882	0.0658	.	.	.	0.09310	N	0.999999	D	0.58620	0.983	P	0.56700	0.804	T	0.13202	-1.0518	9	0.40728	T	0.16	.	0.8843	0.01241	0.3726:0.1507:0.1116:0.3651	.	7	P57730	CAR18_HUMAN	H	7	ENSP00000436691:R7H	ENSP00000436691:R7H	R	-	2	0	CARD18	104515003	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.698000	0.00826	-3.146000	0.00232	-3.850000	0.00018	CGT	-	HMMPfam_CARD,HMMSmart_CARD,superfamily_DEATH_like		0.378	CARD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD18	protein_coding	OTTHUMT00000388183.2	C	NM_021571		104515003	-1	no_errors	NM_021571.2	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	105009793	C	T	105009793	3	4	136	1	0	0	0	0	1	0	0	0	2649	536	19	1	256	1	CARD18	11	105009793	Missense_Mutation	SNP	C	TCGA-AB-2945-03A-01W-0733-08	39979961	105009793	29996723	11	1543											
FLT3	2322	genome.wustl.edu	37	13	28592640	28592640	+	Missense_Mutation	SNP	A	A	T	rs121913487|rs121913486		TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr13:28592640A>T	ENST00000241453.7	-	20	2586	c.2505T>A	c.(2503-2505)gaT>gaA	p.D835E	FLT3_ENST00000380982.4_Missense_Mutation_p.D835E|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.?(23)|p.D835E(11)|p.D835_I836>V(1)|p.D835del(1)|p.R834_D835del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACTCATGATATCTCGAGCCA	0.448			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	37	Unknown(23)|Substitution - Missense(11)|Deletion - In frame(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(37)	13											190	142	158					13																	28592640		2203	4300	6503	27490640	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2505T>A	13.37:g.28592640A>T	ENSP00000241453:p.Asp835Glu	119	4.55	6					27490640	40	20	10	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835E	ENST00000241453.7	37	c.2505	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381261	0.82792	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.82893	-1.66;-1.66	5.84	-4.76	0.03229	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	N	0.000030	T	0.81650	0.4867	N	0.17922	0.545	0.80722	D	1	D	0.56521	0.976	D	0.67382	0.951	T	0.79933	-0.1594	10	0.87932	D	0	.	16.6884	0.85315	0.3945:0.0:0.6055:0.0	.	835	P36888	FLT3_HUMAN	E	835	ENSP00000241453:D835E;ENSP00000370369:D835E	ENSP00000241453:D835E	D	-	3	2	FLT3	27490640	0.998000	0.40836	0.408000	0.26446	0.936000	0.57629	0.485000	0.22324	-1.493000	0.01835	-0.424000	0.05967	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.448	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	A			27490640	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	0.991	T	T	28592640	A	T	28592640	3	4	136	1	0	0	0	0	1	0	0	0	5942	446	16	5	496	5	FLT3	13	28592640	Missense_Mutation	SNP	A	TCGA-AB-2945-03A-01W-0733-08		28592640	86577238	12	1544											
SDR42E1	93517	genome.wustl.edu	37	16	82033078	82033078	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2945-03A-01W-0733-08	TCGA-AB-2945-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	45e961ad-9a6a-49ed-9e69-d80020ab93f3	c19658a4-1073-42aa-aa50-ab3140760804	g.chr16:82033078C>T	ENST00000328945.5	-	3	947	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	274					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						AATGTGTAGCCCAGGCCCTCA	0.517																																						dbGAP											0			16											59	61	61					16																	82033078		1923	4127	6050	80590579	SO:0001583	missense	0			AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"Short chain dehydrogenase/reductase superfamily / Extended SDR fold"	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.820G>A	16.37:g.82033078C>T	ENSP00000332407:p.Gly274Ser	101	8.04	9					80590579	32	41.82	23	B2RDS1|Q9P0D1	Missense_Mutation	SNP	HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd	p.G274S	ENST00000328945.5	37	c.820	CCDS42205.1	16	.	.	.	.	.	.	.	.	.	.	C	32	5.136453	0.94517	.	.	ENSG00000184860	ENST00000328945	D	0.90732	-2.72	5.33	5.33	0.75918	3-beta hydroxysteroid dehydrogenase/isomerase (1);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.97487	1.0051	10	0.72032	D	0.01	-20.1063	18.037	0.89307	0.0:1.0:0.0:0.0	.	274	Q8WUS8	D42E1_HUMAN	S	274	ENSP00000332407:G274S	ENSP00000332407:G274S	G	-	1	0	SDR42E1	80590579	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.495000	0.84180	0.655000	0.94253	GGC	-	HMMPfam_3Beta_HSD,superfamily_NAD(P)-bd		0.517	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR42E1	protein_coding	OTTHUMT00000388081.2	C	NM_145168		80590579	-1	no_errors	NM_145168.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	82033078	C	T	82033078	3	4	136	1	0	0	0	0	1	0	0	0	13973	623	22	2	365	2	SDR42E1	16	82033078	Missense_Mutation	SNP	C	TCGA-AB-2945-03A-01W-0733-08		82033078	8321675	13	1545											
FASTKD3	79072	genome.wustl.edu	37	5	7867321	7867321	+	Silent	SNP	A	A	G			TCGA-AB-2946-03A-01W-0755-09	TCGA-AB-2946-11A-01W-0755-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f24b41b4-79bf-4736-96c8-83921811bb95	f99d043f-2e11-48a5-b84d-6796ecc20a13	g.chr5:7867321A>G	ENST00000264669.5	-	2	1012	c.876T>C	c.(874-876)agT>agC	p.S292S	MTRR_ENST00000502509.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000264668.2_5'Flank	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	292					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCAATTTAGGACTCAGGTTGG	0.363																																						dbGAP											0			5											88	100	96					5																	7867321		2203	4300	6503	7920321	SO:0001819	synonymous_variant	0			AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.876T>C	5.37:g.7867321A>G		68	6.76	5		10	0	0	7920321	103	20.16	26	Q9BVD3	Silent	SNP	HMMPfam_FAST_1,HMMPfam_FAST_2,HMMPfam_RAP	p.S292	ENST00000264669.5	37	c.876	CCDS3873.1	5																																																																																			-	NULL		0.363	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD3	protein_coding	OTTHUMT00000253673.1	A	NM_024091		7920321	-1	no_errors	NM_024091.2	genbank	human	validated	54_36p	silent	SNP	0.982	G	G	7867321	A	G	7867321	2	3	137	1	0	0	0	0	0	0	0	1	5687	272	10	3		3	FASTKD3	5	7867321	Silent	SNP	A	TCGA-AB-2946-03A-01W-0755-09		7867321	173047939	1	1546											
CUEDC1	404093	genome.wustl.edu	37	17	55962641	55962641	+	Silent	SNP	G	G	A	rs368159791		TCGA-AB-2946-03A-01W-0755-09	TCGA-AB-2946-11A-01W-0755-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f24b41b4-79bf-4736-96c8-83921811bb95	f99d043f-2e11-48a5-b84d-6796ecc20a13	g.chr17:55962641G>A	ENST00000577830.1	-	2	698	c.285C>T	c.(283-285)agC>agT	p.S95S	CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000407144.2_Silent_p.S95S|CUEDC1_ENST00000360238.2_Silent_p.S95S	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	95										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AGACGCCGCCGCTGCTGCCAC	0.647													G|||	1	0.000199681	8e-04	0	5008	,	,		12779	0		0	False		,,,				2504	0					dbGAP											0			17						G		1,4403	2.1+/-5.4	0,1,2201	38	42	41		285	0.9	0.1	17		41	0,8596		0,0,4298	no	coding-synonymous	CUEDC1	NM_017949.1		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		95/387	55962641	1,12999	2202	4298	6500	53317640	SO:0001819	synonymous_variant	0			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.285C>T	17.37:g.55962641G>A		8	0	0		2	66.67	4	53317640	21	47.5	19	D3DTZ2|Q9NWD0	Silent	SNP	HMMPfam_CUE,HMMSmart_SM00546,superfamily_UBA-like	p.S95	ENST00000577830.1	37	c.285	CCDS11599.1	17																																																																																			-	NULL		0.647	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC1	protein_coding	OTTHUMT00000443305.1	G	NM_017949		53317640	-1	no_errors	NM_017949.1	genbank	human	provisional	54_36p	silent	SNP	0.809	A	A	55962641	G	A	55962641	2	1	137	1	0	0	0	0	0	0	0	1	4052	1078	38	1		1	CUEDC1	17	55962641	Silent	SNP	G	TCGA-AB-2946-03A-01W-0755-09		55962641	25232569	2	1547											
ZBED4	9889	genome.wustl.edu	37	22	50277761	50277761	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2946-03A-01W-0755-09	TCGA-AB-2946-11A-01W-0755-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f24b41b4-79bf-4736-96c8-83921811bb95	f99d043f-2e11-48a5-b84d-6796ecc20a13	g.chr22:50277761G>C	ENST00000216268.5	+	2	928	c.451G>C	c.(451-453)Gac>Cac	p.D151H		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	151						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AAACGAGAAAGACTTGAGTAC	0.517																																						dbGAP											0			22											75	71	73					22																	50277761		2203	4300	6503	48663765	SO:0001583	missense	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"Zinc fingers, BED-type"	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.451G>C	22.37:g.50277761G>C	ENSP00000216268:p.Asp151His	64	1.52	1		53	13.11	8	48663765	102	15	18	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	HMMPfam_zf-BED,HMMSmart_SM00614,HMMPfam_hATC	p.D151H	ENST00000216268.5	37	c.451	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	18.76	3.691694	0.68271	.	.	ENSG00000100426	ENST00000216268	T	0.47869	0.83	5.31	5.31	0.75309	Zinc finger, BED-type predicted (3);	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	L	0.31207	0.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56553	-0.7960	10	0.40728	T	0.16	-21.8271	19.1664	0.93559	0.0:0.0:1.0:0.0	.	151	O75132	ZBED4_HUMAN	H	151	ENSP00000216268:D151H	ENSP00000216268:D151H	D	+	1	0	ZBED4	48663765	1.000000	0.71417	0.996000	0.52242	0.308000	0.27856	7.029000	0.76477	2.762000	0.94881	0.650000	0.86243	GAC	-	HMMPfam_zf-BED,HMMSmart_SM00614		0.517	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	protein_coding	OTTHUMT00000317408.2	G	NM_014838		48663765	1	no_errors	NM_014838.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	50277761	G	C	50277761	3	2	137	1	0	0	0	0	1	0	0	0	17517	942	33	4	453	4	ZBED4	22	50277761	Missense_Mutation	SNP	G	TCGA-AB-2946-03A-01W-0755-09		50277761	1026805	3	1548											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2947-03A-01W-0745-08	TCGA-AB-2947-11A-01W-0745-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5a362de8-3eda-4d14-8f7a-4c2f38fbf96d	8e6fb312-582b-48d3-ae94-aa714e2c23fb	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	53	20.9	14					25310746	47	40	32	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	138	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2947-03A-01W-0745-08		25457242	217742131	1	1549											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2947-03A-01W-0745-08	TCGA-AB-2947-11A-01W-0745-08	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5a362de8-3eda-4d14-8f7a-4c2f38fbf96d	8e6fb312-582b-48d3-ae94-aa714e2c23fb	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	138	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2947-03A-01W-0745-08		170837547	10077713	2	1550											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2947-03A-01W-0745-08	TCGA-AB-2947-11A-01W-0745-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5a362de8-3eda-4d14-8f7a-4c2f38fbf96d	8e6fb312-582b-48d3-ae94-aa714e2c23fb	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	59	33.71	30					27490642	37	45.71	32	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	138	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2947-03A-01W-0745-08		28592642	86577236	3	1551											
PDCL3	79031	genome.wustl.edu	37	2	101183018	101183019	+	Frame_Shift_Ins	INS	-	-	C	rs115241531	byFrequency	TCGA-AB-2948-03A-01W-0755-09	TCGA-AB-2948-11A-01W-0755-09	-	-	-	C	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7b0fb197-8465-430b-9da7-322f2d218729	dbbec382-9c71-4ce4-b439-9e8a6eece4b8	g.chr2:101183018_101183019insC	ENST00000264254.6	+	2	438_439	c.60_61insC	c.(61-63)cccfs	p.P21fs		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	21					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						AGGGTATCTTACCCCCCAAGGA	0.505																																						dbGAP											0			2																																								100549451	SO:0001589	frameshift_variant	0			AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.66dupC	2.37:g.101183024_101183024dupC	ENSP00000264254:p.Pro21fs	26	0	0		1	0	0	100549450	34	8.11	3	B2RA00|Q53S68	Frame_Shift_Ins	INS	HMMPfam_Phosducin,superfamily_Thiordxn-like_fd	p.K22fs	ENST00000264254.6	37	c.60_61	CCDS33261.1	2																																																																																			-	HMMPfam_Phosducin,superfamily_Thiordxn-like_fd		0.505	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL3	protein_coding	OTTHUMT00000329734.1	-	NM_024065		100549451	1	no_errors	NM_024065.4	genbank	human	validated	54_36p	frame_shift_ins	INS	0.997:1.000	C	C	101183019	-	C	101183018	7	5	139	1	0	1	1	0	0	0	0	0	11628	388	14	0	66	0	PDCL3	2	101183018	Frame_Shift_Ins	INS	-	TCGA-AB-2948-03A-01W-0755-09		101183018	142016355	1	1552											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2948-03A-01W-0755-09	TCGA-AB-2948-11A-01W-0755-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7b0fb197-8465-430b-9da7-322f2d218729	dbbec382-9c71-4ce4-b439-9e8a6eece4b8	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	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	103	103					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	16.3	15		178	44.92	146	88432938	32	46.67	28	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	T	90631934	C	T	90631934	3	4	139	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2948-03A-01W-0755-09		90631934	11899458	2	1553											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	112	6.67	8		45	57.14	60	25310746	26	44.68	21	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	140	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2949-03A-01W-0733-08		25457242	217742131	1	1554											
C2orf89	129293	genome.wustl.edu	37	2	85097654	85097654	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr2:85097654G>T	ENST00000409520.2	-	2	406	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	TRABD2A_ENST00000335459.5_Missense_Mutation_p.R122S|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R122S	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	122					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CGCTTGAGGCGGCAGTAGATG	0.582																																						dbGAP											0			2											48	52	51					2																	85097654		2112	4227	6339	84951165	SO:0001583	missense	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"chromosome 2 open reading frame 89"	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.364C>A	2.37:g.85097654G>T	ENSP00000387075:p.Arg122Ser	65	2.99	2					84951165	23	48.89	22	B4DKK8|I6UMB9	Missense_Mutation	SNP	NULL	p.R122S	ENST00000409520.2	37	c.364		2	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742659	0.49151	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.26067	1.76;1.76;1.76	3.51	-0.393	0.12438	.	0.169259	0.36200	N	0.002721	T	0.36468	0.0968	.	.	.	0.30999	N	0.72056	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	T	0.30534	-0.9975	9	0.39692	T	0.17	.	2.7438	0.05262	0.3032:0.0:0.3668:0.33	.	122;122;122	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	S	122	ENSP00000335004:R122S;ENSP00000387075:R122S;ENSP00000387183:R122S	ENSP00000335004:R122S	R	-	1	0	C2orf89	84951165	0.966000	0.33281	0.732000	0.30844	0.813000	0.45954	0.526000	0.22971	0.028000	0.15324	-0.391000	0.06502	CGC	-	NULL		0.582	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	LOC129293	protein_coding		G	NM_001080824		84951165	-1	no_errors	NM_001080824.1	genbank	human	predicted	54_36p	missense	SNP	0.997	T	T	85097654	G	T	85097654	3	4	140	1	0	0	0	0	1	0	0	0	2203	1116	39	4	1026	4	C2orf89	2	85097654	Missense_Mutation	SNP	G	TCGA-AB-2949-03A-01W-0733-08	59640412	85097654	158101719	2	1555											
IDH1	3417	genome.wustl.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	2											79	73	75					2																	209113112		2203	4300	6503	208821357	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His	86	6.52	6		37	38.33	23	208821357	32	43.86	25	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132H	ENST00000415913.1	37	c.395	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	C			208821357	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	209113112	C	T	209113112	3	4	140	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-AB-2949-03A-01W-0733-08	124015458	209113112	34086261	3	1556											
SLC4A3	6508	genome.wustl.edu	37	2	220505322	220505322	+	Splice_Site	SNP	G	G	A			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr2:220505322G>A	ENST00000358055.3	+	21	3959		c.e21+1		SLC4A3_ENST00000317151.3_Splice_Site|SLC4A3_ENST00000273063.6_Splice_Site|SLC4A3_ENST00000373762.3_Splice_Site|SLC4A3_ENST00000373760.2_Splice_Site			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGACCAAGGTAGGGCCGGG	0.577																																						dbGAP											0			2											108	99	102					2																	220505322		2203	4300	6503	220213566	SO:0001630	splice_region_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"Solute carriers"	11029	protein-coding gene	gene with protein product	"Anion exchanger 3, neuronal"	106195	"solute carrier family 4, anion exchanger, member 3"			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3447+1G>A	2.37:g.220505322G>A		110	0.89	1		0	0	0	220213566	52	14.75	9	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Splice_Site	SNP	-	e20+1	ENST00000358055.3	37	c.3528+1	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446450	0.84101	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3412	0.87297	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A3	220213566	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.601000	0.98297	2.396000	0.81511	0.563000	0.77884	.	-	-		0.577	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	protein_coding	OTTHUMT00000316472.1	G	NM_005070	Intron	220213566	1	no_errors	NM_201574.3	genbank	human	validated	54_36p	splice_site	SNP	1.000	A	A	220505322	G	A	220505322	5	1	140	1	0	0	0	0	0	0	1	0	14655	1275	44	2	3607	2	SLC4A3	2	220505322	Splice_Site	SNP	G	TCGA-AB-2949-03A-01W-0733-08	11392210	220505322	22694051	4	1557											
SPHKAP	80309	genome.wustl.edu	37	2	228996763	228996763	+	Missense_Mutation	SNP	G	G	A	rs141195352		TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr2:228996763G>A	ENST00000392056.3	-	2	117	c.71C>T	c.(70-72)cCg>cTg	p.P24L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P24L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	24						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCCCTGCTGCGGTTCCAAAAC	0.478																																						dbGAP											0			2						G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	88	91	90		71,71	1.8	0	2	dbSNP_134	90	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPHKAP	NM_001142644.1,NM_030623.3	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	24/1701,24/1672	228996763	1,13005	2203	4300	6503	228705007	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"A-kinase anchor proteins"	30619	protein-coding gene	gene with protein product	"sphingosine kinase type 1-interacting protein"	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.71C>T	2.37:g.228996763G>A	ENSP00000375909:p.Pro24Leu	85	1.16	1					228705007	54	37.21	32	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	HMMPfam_AKAP_110	p.P24L	ENST00000392056.3	37	c.71	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	6.037	0.375221	0.11409	0.0	1.16E-4	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.55052	0.54;0.54	4.55	1.78	0.24846	.	1.862920	0.02479	N	0.088282	T	0.37945	0.1022	N	0.14661	0.345	0.09310	N	1	B;B	0.14438	0.006;0.01	B;B	0.09377	0.002;0.004	T	0.28808	-1.0032	10	0.51188	T	0.08	.	6.8536	0.24028	0.2869:0.0:0.7131:0.0	.	24;24	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	L	24	ENSP00000375909:P24L;ENSP00000339886:P24L	ENSP00000339886:P24L	P	-	2	0	SPHKAP	228705007	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.823000	0.27366	0.423000	0.26033	0.655000	0.94253	CCG	-	NULL		0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	G	NM_030623		228705007	-1	no_errors	NM_030623.1	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	228996763	G	A	228996763	3	1	140	1	0	0	0	0	1	0	0	0	15047	1116	39	1	5075	1	SPHKAP	2	228996763	Missense_Mutation	SNP	G	TCGA-AB-2949-03A-01W-0733-08	8491441	228996763	14202610	5	1558											
LRCH3	84859	genome.wustl.edu	37	3	197556523	197556523	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr3:197556523G>A	ENST00000425562.2	+	6	866	c.866G>A	c.(865-867)aGa>aAa	p.R289K	LRCH3_ENST00000438796.2_Missense_Mutation_p.R289K|LRCH3_ENST00000334859.4_Missense_Mutation_p.R289K|LRCH3_ENST00000414675.2_Missense_Mutation_p.R289K|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Missense_Mutation_p.R163K|AC055764.1_ENST00000454526.1_RNA			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	289						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TATGATAGGAGACCGTTGGGT	0.338																																						dbGAP											0			3											171	171	171					3																	197556523		2203	4300	6503	199040920	SO:0001583	missense	0			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.866G>A	3.37:g.197556523G>A	ENSP00000393579:p.Arg289Lys	109	1.79	2		14	56.25	18	199040920	65	46.77	58	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	HMMPfam_LRR_1,superfamily_Calponin-homology,superfamily_SSF52058	p.R289K	ENST00000425562.2	37	c.866		3	.	.	.	.	.	.	.	.	.	.	G	34	5.360591	0.95877	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.38240	1.81;1.15;1.91;2.08;1.83	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.52964	0.1767	L	0.41824	1.3	0.80722	D	1	D;P;D;D	0.76494	0.997;0.605;0.999;0.978	D;B;D;P	0.68353	0.909;0.194;0.957;0.863	T	0.52983	-0.8502	10	0.62326	D	0.03	-14.7483	19.3151	0.94208	0.0:0.0:1.0:0.0	.	163;289;289;289	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	K	289;163;289;289;289	ENSP00000399751:R289K;ENSP00000394609:R163K;ENSP00000394965:R289K;ENSP00000334375:R289K;ENSP00000393579:R289K	ENSP00000334375:R289K	R	+	2	0	LRCH3	199040920	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.377000	0.79668	2.561000	0.86390	0.650000	0.86243	AGA	-	superfamily_SSF52058		0.338	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	protein_coding	OTTHUMT00000339965.1	G	NM_032773		199040920	1	no_errors	NM_032773.2	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	197556523	G	A	197556523	3	1	140	1	0	0	0	0	1	0	0	0	8934	942	33	2	888	2	LRCH3	3	197556523	Missense_Mutation	SNP	G	TCGA-AB-2949-03A-01W-0733-08		197556523	465907	6	1559											
ST8SIA4	7903	genome.wustl.edu	37	5	100222185	100222185	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr5:100222185T>C	ENST00000231461.5	-	3	675	c.365A>G	c.(364-366)cAt>cGt	p.H122R	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.H122R|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	122					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATGTAGATCATGAGAAATGTT	0.438																																						dbGAP											0			5											143	137	139					5																	100222185		2203	4300	6503	100250084	SO:0001583	missense	0			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"Sialyltransferases"	10871	protein-coding gene	gene with protein product	"ST8Sia IV"	602547	"sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.365A>G	5.37:g.100222185T>C	ENSP00000231461:p.His122Arg	56	3.33	2		30	45.45	25	100250084	33	45	27	A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	HMMPfam_Glyco_transf_29	p.H122R	ENST00000231461.5	37	c.365	CCDS4091.1	5	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877623	0.51801	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.27890	1.64;1.64	5.92	4.76	0.60689	.	0.124765	0.53938	D	0.000047	T	0.12774	0.0310	N	0.02539	-0.55	0.38091	D	0.936979	B	0.02656	0.0	B	0.04013	0.001	T	0.10567	-1.0624	10	0.23302	T	0.38	.	11.2619	0.49089	0.0:0.0711:0.0:0.9289	.	122	Q92187	SIA8D_HUMAN	R	122	ENSP00000231461:H122R;ENSP00000428914:H122R	ENSP00000231461:H122R	H	-	2	0	ST8SIA4	100250084	1.000000	0.71417	0.807000	0.32361	0.991000	0.79684	5.952000	0.70282	1.072000	0.40860	0.455000	0.32223	CAT	-	HMMPfam_Glyco_transf_29		0.438	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	protein_coding	OTTHUMT00000250632.3	T	NM_005668		100250084	-1	no_errors	NM_005668.4	genbank	human	reviewed	54_36p	missense	SNP	0.997	C	C	100222185	T	C	100222185	3	2	140	1	0	0	0	0	1	0	0	0	15233	1464	51	3	730	3	ST8SIA4	5	100222185	Missense_Mutation	SNP	T	TCGA-AB-2949-03A-01W-0733-08		100222185	80693075	7	1560											
NMUR2	56923	genome.wustl.edu	37	5	151784554	151784554	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr5:151784554G>A	ENST00000255262.3	-	1	286	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	41					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AAGTGGCTGCGCCGAGGTCCG	0.537																																						dbGAP											0			5											97	93	94					5																	151784554		2203	4300	6503	151764747	SO:0001583	missense	0			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"GPCR / Class A : Neuromedin U receptors"	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.121C>T	5.37:g.151784554G>A	ENSP00000255262:p.Arg41Cys	88	3.26	3					151764747	57	29.27	24	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.R41C	ENST00000255262.3	37	c.121	CCDS4321.1	5	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348860	0.61183	.	.	ENSG00000132911	ENST00000255262	T	0.38077	1.16	5.54	3.5	0.40072	.	0.000000	0.64402	D	0.000007	T	0.61311	0.2337	M	0.80746	2.51	0.54753	D	0.999988	D	0.89917	1.0	D	0.76575	0.988	T	0.69101	-0.5234	10	0.72032	D	0.01	-24.3232	14.9967	0.71436	0.0:0.0:0.7298:0.2702	.	41	Q9GZQ4	NMUR2_HUMAN	C	41	ENSP00000255262:R41C	ENSP00000255262:R41C	R	-	1	0	NMUR2	151764747	1.000000	0.71417	0.854000	0.33618	0.790000	0.44656	3.934000	0.56553	1.285000	0.44548	0.655000	0.94253	CGC	-	superfamily_Family A G protein-coupled receptor-like		0.537	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMUR2	protein_coding	OTTHUMT00000252439.1	G	NM_020167		151764747	-1	no_errors	NM_020167.4	genbank	human	reviewed	54_36p	missense	SNP	0.866	A	A	151784554	G	A	151784554	3	1	140	1	0	0	0	0	1	0	0	0	10507	1087	38	1	1142	1	NMUR2	5	151784554	Missense_Mutation	SNP	G	TCGA-AB-2949-03A-01W-0733-08	51562369	151784554	29130706	8	1561											
VLDLR	7436	genome.wustl.edu	37	9	2652945	2652945	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr9:2652945C>G	ENST00000382100.3	+	18	2938	c.2582C>G	c.(2581-2583)cCa>cGa	p.P861R	VLDLR_ENST00000382099.2_Missense_Mutation_p.P833R	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	861					cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CACACGTACCCAGCAGTAAGT	0.448																																						dbGAP											0			9											141	126	131					9																	2652945		2203	4300	6503	2642945	SO:0001583	missense	0				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"Low density lipoprotein receptors"	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.2582C>G	9.37:g.2652945C>G	ENSP00000371532:p.Pro861Arg	76	1.3	1		1	0	0	2642945	53	50	53	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	HMMPfam_Ldl_recept_b,HMMSmart_SM00135,PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_Ldl_recept_a,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_YWTD domain	p.P861R	ENST00000382100.3	37	c.2582	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815020	0.90790	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	T;T	0.73681	-0.77;-0.77	5.58	5.58	0.84498	.	0.000000	0.52532	D	0.000066	D	0.88066	0.6337	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;0.999;0.937	D	0.88863	0.3327	10	0.87932	D	0	.	19.9348	0.97133	0.0:1.0:0.0:0.0	.	833;833;861	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	R	861;833;740	ENSP00000371532:P861R;ENSP00000371531:P833R	ENSP00000371524:P740R	P	+	2	0	VLDLR	2642945	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.776000	0.85560	2.789000	0.95967	0.591000	0.81541	CCA	-	NULL		0.448	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	protein_coding	OTTHUMT00000051519.2	C	NM_003383		2642945	1	no_errors	NM_003383.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	2652945	C	G	2652945	3	3	140	1	0	0	0	0	1	0	0	0	17171	594	21	4	2652	4	VLDLR	9	2652945	Missense_Mutation	SNP	C	TCGA-AB-2949-03A-01W-0733-08		2652945	138560486	9	1562											
CHD4	1108	genome.wustl.edu	37	12	6701583	6701583	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr12:6701583C>T	ENST00000357008.2	-	19	3087	c.2924G>A	c.(2923-2925)cGt>cAt	p.R975H	CHD4_ENST00000309577.6_Missense_Mutation_p.R975H|CHD4_ENST00000544040.1_Missense_Mutation_p.R968H|CHD4_ENST00000544484.1_Missense_Mutation_p.R972H	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	975					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R975H(10)		central_nervous_system(2)	2						CAGCTCCACACGCACAATTAG	0.517																																					Colon(32;586 792 4568 16848 45314)	dbGAP											10	Substitution - Missense(10)	endometrium(8)|large_intestine(2)	12											88	82	84					12																	6701583		2203	4300	6503	6571844	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"Zinc fingers, PHD-type"	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2924G>A	12.37:g.6701583C>T	ENSP00000349508:p.Arg975His	198	3.86	8		175	27.69	67	6571844	146	26.87	54	Q8IXZ5	Missense_Mutation	SNP	HMMPfam_SNF2_N,HMMPfam_Chromo,HMMSmart_SM00298,PatternScan_CHROMO_1,HMMPfam_Helicase_C,HMMSmart_SM00490,HMMSmart_SM00249,PatternScan_DEAH_ATP_HELICASE,HMMPfam_DUF1086,HMMPfam_DUF1087,superfamily_FYVE/PHD zinc finger,HMMPfam_CHDCT2,HMMPfam_CHDNT,HMMSmart_SM00487,superfamily_Chromo domain-like,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R975H	ENST00000357008.2	37	c.2924	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.253892	0.95336	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.4	5.4	0.78164	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.82024	0.4947	L	0.37630	1.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	0.997;1.0;0.994	D	0.83812	0.0242	10	0.87932	D	0	.	19.1812	0.93623	0.0:1.0:0.0:0.0	.	975;975;968	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	972;968;975;975;949	ENSP00000440392:R972H;ENSP00000440542:R968H;ENSP00000312419:R975H;ENSP00000349508:R975H	ENSP00000312419:R975H	R	-	2	0	CHD4	6571844	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.743000	0.85020	2.530000	0.85305	0.563000	0.77884	CGT	-	HMMPfam_SNF2_N		0.517	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	protein_coding		C	NM_001273		6571844	-1	no_errors	NM_001273.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	6701583	C	T	6701583	3	4	140	1	0	0	0	0	1	0	0	0	3327	536	19	1	2902	1	CHD4	12	6701583	Missense_Mutation	SNP	C	TCGA-AB-2949-03A-01W-0733-08		6701583	127150312	10	1563											
ORAI1	84876	genome.wustl.edu	37	12	122078953	122078953	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr12:122078953A>G	ENST00000330079.7	+	2	509	c.316A>G	c.(316-318)Atg>Gtg	p.M106V		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	104					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GCAGGTGGCAATGGTGGAGGT	0.637																																						dbGAP											0			12											29	33	31					12																	122078953		2203	4299	6502	120563336	SO:0001583	missense	0			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"ORAI calcium release-activated calcium modulators"	25896	protein-coding gene	gene with protein product	"calcium release-activated calcium modulator 1"	610277	"transmembrane protein 142A"	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.316A>G	12.37:g.122078953A>G	ENSP00000328216:p.Met106Val	129	2.24	3		107	37.43	64	120563336	52	29.73	22	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	HMMPfam_DUF1650	p.M106V	ENST00000330079.7	37	c.316	CCDS41851.1	12	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753142	0.69648	.	.	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.48522	0.81;0.81	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.75615	2.305	0.80722	D	1	D	0.59357	0.985	D	0.72338	0.977	T	0.72304	-0.4333	10	0.66056	D	0.02	-32.9328	15.9343	0.79691	1.0:0.0:0.0:0.0	.	104	Q96D31	CRCM1_HUMAN	V	106;1	ENSP00000328216:M106V;ENSP00000441198:M1V	ENSP00000328216:M106V	M	+	1	0	ORAI1	120563336	1.000000	0.71417	0.985000	0.45067	0.811000	0.45836	9.287000	0.95975	2.228000	0.72767	0.482000	0.46254	ATG	-	HMMPfam_DUF1650		0.637	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI1	protein_coding	OTTHUMT00000402151.1	A	NM_032790		120563336	1	no_errors	NM_032790.3	genbank	human	reviewed	54_36p	missense	SNP	0.997	G	G	122078953	A	G	122078953	3	3	140	1	0	0	0	0	1	0	0	0	11257	101	4	3	322	3	ORAI1	12	122078953	Missense_Mutation	SNP	A	TCGA-AB-2949-03A-01W-0733-08	115377370	122078953	11772942	11	1564											
NRXN3	9369	genome.wustl.edu	37	14	79175740	79175740	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr14:79175740A>G	ENST00000554719.1	+	4	774	c.283A>G	c.(283-285)Atg>Gtg	p.M95V	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.M95V	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CACTAAACGTATGGGCTCCAT	0.522																																						dbGAP											0			14											134	117	123					14																	79175740		2203	4300	6503	78245493	SO:0001583	missense	0			AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"chromosome 14 open reading frame 60"	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000554719.1:c.283A>G	14.37:g.79175740A>G	ENSP00000451648:p.Met95Val	115	1.71	2					78245493	50	33.77	26	A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_LamG,HMMSmart_4.1m,HMMPfam_EGF,HMMSmart_EGF,superfamily_ConA_like_lec_gl,HMMPfam_Laminin_G_2	p.M95V	ENST00000554719.1	37	c.283	CCDS9870.1	14	.	.	.	.	.	.	.	.	.	.	A	10.78	1.445869	0.25987	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000553631;ENST00000554719;ENST00000335750;ENST00000557081	T;T;T;T	0.78364	-1.15;-1.17;-1.17;-1.15	5.38	5.38	0.77491	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.143683	0.64402	D	0.000009	T	0.52948	0.1766	N	0.02120	-0.675	0.39591	D	0.969581	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.54282	-0.8317	9	.	.	.	.	15.3852	0.74691	1.0:0.0:0.0:0.0	.	468;95	Q9Y4C0;Q9Y4C0-3	NRX3A_HUMAN;.	V	468;466;39;95;95;39	ENSP00000451947:M39V;ENSP00000451648:M95V;ENSP00000338349:M95V;ENSP00000450462:M39V	.	M	+	1	0	NRXN3	78245493	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	4.447000	0.60020	2.037000	0.60232	0.460000	0.39030	ATG	-	HMMSmart_LamG,superfamily_ConA_like_lec_gl		0.522	NRXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRXN3	protein_coding	OTTHUMT00000413787.1	A	NM_001105250		78245493	1	no_errors	NM_004796.1	genbank	human	reviewed	54_36p	missense	SNP	0.998	G	G	79175740	A	G	79175740	3	3	140	1	0	0	0	0	1	0	0	0	10667	449	16	3	289	3	NRXN3	14	79175740	Missense_Mutation	SNP	A	TCGA-AB-2949-03A-01W-0733-08		79175740	28173800	12	1565											
SUZ12	23512	genome.wustl.edu	37	17	30310021	30310022	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	CT	CT	CT	-	CT	CT	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr17:30310021_30310022delCT	ENST00000322652.5	+	9	1150_1151	c.921_922delCT	c.(919-924)cgcttafs	p.L308fs	SUZ12_ENST00000580398.1_Frame_Shift_Del_p.L285fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	308					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CTAACAGGCGCTTACAGCTTTT	0.332			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0			17																																								27334135	SO:0001589	frameshift_variant	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.921_922delCT	17.37:g.30310021_30310022delCT	ENSP00000316578:p.Leu308fs	0	4.08	2		0	0	0	27334134	0	40.74	11	Q96BD9	Frame_Shift_Del	DEL	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_VEFS-Box	p.L308fs	ENST00000322652.5	37	c.921_922	CCDS11270.1	17																																																																																			-	NULL		0.332	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	protein_coding	OTTHUMT00000256260.2	CT	NM_015355		27334135	1	no_errors	NM_015355.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.998:0.998	-	-	30310022	CT	-	30310021	7	5	140	1	0	1	0	1	0	0	0	0	15413	784	28	0	955	0	SUZ12	17	30310021	Frame_Shift_Del	DEL	CT	TCGA-AB-2949-03A-01W-0733-08		30310021	50885189	13	1566											
CCL11	6356	genome.wustl.edu	37	17	32614641	32614641	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr17:32614641C>T	ENST00000305869.3	+	3	367	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	76					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGTGCCGACCCCAAGAAGAA	0.438																																						dbGAP											0			17											76	70	72					17																	32614641		2203	4300	6503	29638754	SO:0001583	missense	0			AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"Chemokine ligands", "Endogenous ligands"	10610	protein-coding gene	gene with protein product	"eotaxin-1"	601156	"small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.226C>T	17.37:g.32614641C>T	ENSP00000302234:p.Pro76Ser	53	1.82	1					29638754	49	42.35	36	P50877|Q92490|Q92491	Missense_Mutation	SNP	PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines	p.P76S	ENST00000305869.3	37	c.226	CCDS11279.1	17	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336318	0.60963	.	.	ENSG00000172156	ENST00000305869	T	0.18174	2.23	5.1	5.1	0.69264	Chemokine interleukin-8-like domain (3);	0.000000	0.53938	D	0.000060	T	0.40398	0.1115	.	.	.	0.42641	D	0.993415	D	0.64830	0.994	D	0.66084	0.941	T	0.21042	-1.0257	9	0.87932	D	0	.	14.1919	0.65644	0.0:1.0:0.0:0.0	.	76	P51671	CCL11_HUMAN	S	76	ENSP00000302234:P76S	ENSP00000302234:P76S	P	+	1	0	CCL11	29638754	0.616000	0.27035	0.999000	0.59377	0.496000	0.33645	2.229000	0.42990	2.813000	0.96785	0.561000	0.74099	CCC	-	HMMPfam_IL8,HMMSmart_SM00199,superfamily_Interleukin 8-like chemokines		0.438	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL11	protein_coding	OTTHUMT00000256377.2	C	NM_002986		29638754	1	no_errors	NM_002986.2	genbank	human	reviewed	54_36p	missense	SNP	0.992	T	T	32614641	C	T	32614641	3	4	140	1	0	0	0	0	1	0	0	0	2883	623	22	2	236	2	CCL11	17	32614641	Missense_Mutation	SNP	C	TCGA-AB-2949-03A-01W-0733-08	2304620	32614641	48580569	14	1567											
NCOA3	8202	genome.wustl.edu	37	20	46264338	46264338	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AB-2949-03A-01W-0733-08	TCGA-AB-2949-11A-01W-0732-08	A	A	A	-	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	93918a62-e102-4cf1-a403-81845f830c3e	ed5227d3-b5bf-4356-a6c2-3af0065be735	g.chr20:46264338delA	ENST00000371998.3	+	11	1576	c.1385delA	c.(1384-1386)aacfs	p.N462fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.N472fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.N462fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.N472fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	462					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TATGGGCTCAACATGAGTAGC	0.507																																						dbGAP											0			20											72	68	70					20																	46264338		2203	4300	6503	45697745	SO:0001589	frameshift_variant	0			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"Chromatin-modifying enzymes / K-acetyltransferases", "Basic helix-loop-helix proteins"	7670	protein-coding gene	gene with protein product	"receptor-associated coactivator 3", "thyroid hormone receptor activator molecule 1"	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1385delA	20.37:g.46264338delA	ENSP00000361066:p.Asn462fs	141	0	0		28	0	0	45697745	92	0	0	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	HMMSmart_SM00091,HMMPfam_HLH,HMMSmart_SM00353,superfamily_Nuclear receptor coactivator interlocking domain,HMMPfam_DUF1518,superfamily_HLH helix-loop-helix DNA-binding domain,HMMPfam_PAS,HMMPfam_Nuc_rec_co-act,HMMPfam_SRC-1,superfamily_PYP-like sensor domain (PAS domain)	p.N462fs	ENST00000371998.3	37	c.1385	CCDS13407.1	20																																																																																			-	NULL		0.507	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA3	protein_coding	OTTHUMT00000080405.1	A	NM_006534		45697745	1	no_errors	NM_181659.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.984	-	-	46264338	A	-	46264338	7	5	140	1	0	1	0	1	0	0	0	0	10230	43	2	0	1449	0	NCOA3	20	46264338	Frame_Shift_Del	DEL	A	TCGA-AB-2949-03A-01W-0733-08		46264338	16761182	15	1568											
LHCGR	3973	genome.wustl.edu	37	2	48936146	48936146	+	Silent	SNP	G	G	A			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr2:48936146G>A	ENST00000294954.7	-	8	642	c.621C>T	c.(619-621)aaC>aaT	p.N207N	LHCGR_ENST00000403273.1_Silent_p.N207N|LHCGR_ENST00000344775.3_Silent_p.N207N|LHCGR_ENST00000405626.1_Silent_p.N207N|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Silent_p.N207N	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	207					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CCAGATGTACGTTTTCCTTTA	0.512																																						dbGAP											0			2											220	188	199					2																	48936146		2203	4300	6503	48789650	SO:0001819	synonymous_variant	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"GPCR / Class A : Gonadotropin and TSH receptors"	6585	protein-coding gene	gene with protein product		152790	"hypergonadotropic hypogonadism"	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.621C>T	2.37:g.48936146G>A		137	2.14	3					48789650	259	40.14	175	Q14751|Q15996|Q9UEW9	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_L domain-like,superfamily_Family A G protein-coupled receptor-like	p.N207	ENST00000294954.7	37	c.621	CCDS1842.1	2																																																																																			-	superfamily_L domain-like		0.512	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	protein_coding	OTTHUMT00000251364.4	G	NM_000233.3		48789650	-1	no_errors	NM_000233.3	genbank	human	reviewed	54_36p	silent	SNP	0.019	A	A	48936146	G	A	48936146	2	1	141	1	0	0	0	0	0	0	0	1	8762	1136	40	1		1	LHCGR	2	48936146	Silent	SNP	G	TCGA-AB-2950-03A-01W-0733-08		48936146	194263227	1	1569											
ACOXL	55289	genome.wustl.edu	37	2	111542370	111542370	+	Missense_Mutation	SNP	C	C	T	rs201574685		TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr2:111542370C>T	ENST00000389811.4	+	3	361	c.137C>T	c.(136-138)gCg>gTg	p.A46V	ACOXL_ENST00000340561.4_Missense_Mutation_p.A46V|ACOXL_ENST00000439055.1_Missense_Mutation_p.A46V			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	46					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						CTCTCCATGGCGGACATGGCC	0.488													C|||	1	0.000199681	8e-04	0	5008	,	,		15444	0		0	False		,,,				2504	0					dbGAP											0			2						C	VAL/ALA	1,3803		0,1,1901	57	60	59		137	1.9	0	2		59	0,8274		0,0,4137	yes	missense	ACOXL	NM_001142807.1	64	0,1,6038	TT,TC,CC		0.0,0.0263,0.0083	benign	46/581	111542370	1,12077	1902	4137	6039	111258841	SO:0001583	missense	0				CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"acyl-Coenzyme A oxidase-like"				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.137C>T	2.37:g.111542370C>T	ENSP00000374461:p.Ala46Val	79	2.44	2					111258841	93	42.94	70	A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	HMMPfam_Acyl-CoA_dh_1,HMMPfam_Acyl-CoA_dh_M,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,superfamily_Acyl-CoA dehydrogenase NM domain-like	p.A46V	ENST00000389811.4	37	c.137		2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	0.028	-1.355767	0.01245	2.63E-4	0.0	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000340561;ENST00000448863	D;D;D	0.98926	-5.24;-5.24;-5.24	5.43	1.91	0.25777	Acyl-CoA dehydrogenase/oxidase (1);	0.556675	0.13692	N	0.369469	D	0.94132	0.8118	N	0.17082	0.46	0.09310	N	1	B;B;B	0.22983	0.046;0.078;0.005	B;B;B	0.17979	0.013;0.02;0.001	D	0.87183	0.2229	10	0.16896	T	0.51	-1.5526	6.9407	0.24490	0.0:0.637:0.0:0.363	.	46;46;46	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	V	46	ENSP00000374461:A46V;ENSP00000407761:A46V;ENSP00000343717:A46V	ENSP00000343717:A46V	A	+	2	0	ACOXL	111258841	0.032000	0.19561	0.001000	0.08648	0.373000	0.29922	0.533000	0.23082	0.062000	0.16340	-0.251000	0.11542	GCG	-	superfamily_Acyl-CoA dehydrogenase NM domain-like		0.488	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	ACOXL	protein_coding	OTTHUMT00000254024.2	C	NM_018308		111258841	1	no_errors	NM_001105516.2	genbank	human	validated	54_36p	missense	SNP	0.187	T	T	111542370	C	T	111542370	3	4	141	1	0	0	0	0	1	0	0	0	161	768	27	1	143	1	ACOXL	2	111542370	Missense_Mutation	SNP	C	TCGA-AB-2950-03A-01W-0733-08	62606224	111542370	131657003	2	1570											
NAALADL2	254827	genome.wustl.edu	37	3	175165096	175165096	+	Silent	SNP	G	G	A			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr3:175165096G>A	ENST00000454872.1	+	6	1298	c.1170G>A	c.(1168-1170)ctG>ctA	p.L390L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	390						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TTGCAAAACTGATCTCTTCGC	0.398																																						dbGAP											0			3											66	63	64					3																	175165096		1877	4123	6000	176647790	SO:0001819	synonymous_variant	0				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"glutamate carboxypeptidase II-type non-peptidase homologue"	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1170G>A	3.37:g.175165096G>A		68	0	0		1	0	0	176647790	59	42.72	44	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Silent	SNP	superfamily_Transferrin receptor ectodomain C-terminal domain,PatternScan_GLYCOSYL_HYDROL_F5,superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases	p.L390	ENST00000454872.1	37	c.1170	CCDS46960.1	3																																																																																			-	superfamily_Transferrin receptor ectodomain apical domain,superfamily_Zn-dependent exopeptidases		0.398	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	protein_coding	OTTHUMT00000347390.2	G	NM_207015		176647790	1	no_errors	NM_207015.2	genbank	human	validated	54_36p	silent	SNP	0.953	A	A	175165096	G	A	175165096	2	1	141	1	0	0	0	0	0	0	0	1	10130	1277	45	2		2	NAALADL2	3	175165096	Silent	SNP	G	TCGA-AB-2950-03A-01W-0733-08		175165096	22857334	3	1571											
KIAA1109	84162	genome.wustl.edu	37	4	123202879	123202879	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr4:123202879C>G	ENST00000264501.4	+	52	9360	c.8987C>G	c.(8986-8988)tCt>tGt	p.S2996C	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2996C|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2996C			Q2LD37	K1109_HUMAN	KIAA1109	2996					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTTTACCATCTCTGAAAGCA	0.363																																						dbGAP											0			4											103	98	100					4																	123202879		1842	4098	5940	123422329	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"fragile site-associated"	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.8987C>G	4.37:g.123202879C>G	ENSP00000264501:p.Ser2996Cys	69	1.43	1		20	54.55	24	123422329	52	49.02	50	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	PatternScan_ASP_PROTEASE,HMMPfam_FSA_C	p.S2996C	ENST00000264501.4	37	c.8987	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.471617|4.471617	0.84533|0.84533	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.38240	.|1.72;1.72;1.15	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.60011|0.60011	0.2236|0.2236	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.81914	.|0.995;0.99	T|T	0.62320|0.62320	-0.6879|-0.6879	5|10	.|0.87932	.|D	.|0	.|.	19.1675|19.1675	0.93562|0.93562	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2996;2996	.|Q2LD37-6;Q2LD37	.|.;K1109_HUMAN	M|C	953|2996	.|ENSP00000264501:S2996C;ENSP00000373390:S2996C;ENSP00000389925:S2996C	.|ENSP00000264501:S2996C	I|S	+|+	3|2	3|0	KIAA1109|KIAA1109	123422329|123422329	1.000000|1.000000	0.71417|0.71417	0.443000|0.443000	0.26883|0.26883	0.965000|0.965000	0.64279|0.64279	7.678000|7.678000	0.84035|0.84035	2.537000|2.537000	0.85549|0.85549	0.591000|0.591000	0.81541|0.81541	ATC|TCT	-	NULL		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123422329	1	no_errors	NM_015312.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	123202879	C	G	123202879	3	3	141	1	0	0	0	0	1	0	0	0	8208	913	32	4	9185	4	KIAA1109	4	123202879	Missense_Mutation	SNP	C	TCGA-AB-2950-03A-01W-0733-08		123202879	67951397	4	1572											
GRID1	2894	genome.wustl.edu	37	10	87407082	87407082	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr10:87407082G>T	ENST00000327946.7	-	13	2155	c.2070C>A	c.(2068-2070)taC>taA	p.Y690*	RN7SKP238_ENST00000516483.1_RNA|RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Nonsense_Mutation_p.Y261*	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	690					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TGGCTCGGAAGTACTCATATA	0.547										Multiple Myeloma(13;0.14)																												dbGAP											0			10											279	259	266					10																	87407082		2203	4300	6503	87397062	SO:0001587	stop_gained	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2070C>A	10.37:g.87407082G>T	ENSP00000330148:p.Tyr690*	147	1.95	3					87397062	209	25.09	70	B3KXD5|B7Z7L0|Q8IXT3	Nonsense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_SM00079,HMMPfam_ANF_receptor,PatternScan_ALDEHYDE_DEHYDR_GLU,HMMPfam_Lig_chan-Glu_bd,superfamily_Periplasmic binding protein-like I,superfamily_Periplasmic binding protein-like II	p.Y690*	ENST00000327946.7	37	c.2070	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	G	38	7.076775	0.98048	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	.	.	.	5.7	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	8.5134	0.33231	0.1841:0.0:0.8159:0.0	.	.	.	.	X	690;261	.	ENSP00000330148:Y690X	Y	-	3	2	GRID1	87397062	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.109000	0.41863	1.315000	0.45114	0.650000	0.86243	TAC	-	HMMPfam_Lig_chan,HMMSmart_SM00079,superfamily_Periplasmic binding protein-like II		0.547	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	protein_coding	OTTHUMT00000049148.3	G	XM_043613		87397062	-1	no_errors	NM_017551.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	87407082	G	T	87407082	4	4	141	1	0	0	0	0	0	1	0	0	6771	1024	36	4	975	4	GRID1	10	87407082	Nonsense_Mutation	SNP	G	TCGA-AB-2950-03A-01W-0733-08		87407082	48127665	5	1573											
SMC3	9126	genome.wustl.edu	37	10	112360890	112360890	+	Splice_Site	SNP	T	T	C			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr10:112360890T>C	ENST00000361804.4	+	23	2770		c.e23+2			NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3						DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GATCAGAAGGTGAATTTTTAT	0.343																																						dbGAP											0			10											99	113	108					10																	112360890		2203	4300	6503	112350880	SO:0001630	splice_region_variant	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2644+2T>C	10.37:g.112360890T>C		31	5.71	2		1	98.25	56	112350880	26	48	24	A8K156|O60464|Q5T482	Splice_Site	SNP	-	e23+2	ENST00000361804.4	37	c.2644+2	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543532	0.65198	.	.	ENSG00000108055	ENST00000361804	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2944	0.73891	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMC3	112350880	0.999000	0.42202	0.905000	0.35620	0.675000	0.39556	5.445000	0.66594	2.002000	0.58637	0.477000	0.44152	.	-	-		0.343	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	T	NM_005445	Intron	112350880	1	no_errors	NM_005445.3	genbank	human	reviewed	54_36p	splice_site	SNP	0.991	C	C	112360890	T	C	112360890	5	2	141	1	0	0	0	0	0	0	1	0	14784	1710	59	3	2736	3	SMC3	10	112360890	Splice_Site	SNP	T	TCGA-AB-2950-03A-01W-0733-08	24953808	112360890	23173857	6	1574											
EHD1	10938	genome.wustl.edu	37	11	64627708	64627708	+	Silent	SNP	C	C	T			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr11:64627708C>T	ENST00000320631.3	-	3	857	c.603G>A	c.(601-603)tcG>tcA	p.S201S	EHD1_ENST00000359393.2_Silent_p.S201S	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	201	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGATCACTTCCGAGAACTCAT	0.582																																						dbGAP											0			11											79	72	74					11																	64627708		2201	4297	6498	64384284	SO:0001819	synonymous_variant	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"EF-hand domain containing"	3242	protein-coding gene	gene with protein product	"testilin"	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.603G>A	11.37:g.64627708C>T		35	2.78	1		58	36.96	34	64384284	68	30.61	30	O14611|Q2M3Q4|Q9UNR3	Silent	SNP	HMMSmart_SM00027,HMMPfam_Dynamin_N,PatternScan_EF_HAND_1,superfamily_EF-hand,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.S201	ENST00000320631.3	37	c.603	CCDS8084.1	11																																																																																			-	HMMPfam_Dynamin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.582	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	protein_coding	OTTHUMT00000143229.2	C	NM_006795		64384284	-1	no_errors	NM_006795.2	genbank	human	reviewed	54_36p	silent	SNP	0.208	T	T	64627708	C	T	64627708	2	4	141	1	0	0	0	0	0	0	0	1	4977	639	23	1		1	EHD1	11	64627708	Silent	SNP	C	TCGA-AB-2950-03A-01W-0733-08		64627708	70378808	7	1575											
MGA	23269	genome.wustl.edu	37	15	42046641	42046642	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	TG	TG	TG	-	TG	TG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr15:42046641_42046642delTG	ENST00000570161.1	+	17	7015_7016	c.7015_7016delTG	c.(7015-7017)tgtfs	p.C2339fs	MGA_ENST00000219905.7_Frame_Shift_Del_p.C2339fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.C2130fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.C2130fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.C2300fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGAATAACTGTGTAGAATAC	0.381																																						dbGAP											0			15																																								39833934	SO:0001589	frameshift_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"MAX dimerization proteins", "T-boxes"	14010	protein-coding gene	gene with protein product			"MAX gene associated"				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7015_7016delTG	15.37:g.42046643_42046644delTG	ENSP00000457035:p.Cys2339fs	0	3.17	4		0	0	0	39833933	0	31.3	41	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	HMMPfam_HLH,HMMSmart_SM00353,HMMPfam_T-box,HMMSmart_SM00425,superfamily_p53-like transcription factors,superfamily_HLH helix-loop-helix DNA-binding domain,PatternScan_TBOX_2	p.V2389fs	ENST00000570161.1	37	c.7162_7163	CCDS55959.1	15																																																																																			-	NULL		0.381	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	protein_coding	OTTHUMT00000420229.1	TG	NM_001164273.1		39833934	1	no_errors	NM_001080541.1	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.094:0.101	-	-	42046642	TG	-	42046641	7	5	141	1	0	1	0	1	0	0	0	0	9540	1580	55	0	7081	0	MGA	15	42046641	Frame_Shift_Del	DEL	TG	TCGA-AB-2950-03A-01W-0733-08		42046641	60484751	8	1576											
COPS2	9318	genome.wustl.edu	37	15	49447748	49447748	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr15:49447748A>C	ENST00000388901.5	-	1	101	c.28T>G	c.(28-30)Tgc>Ggc	p.C10G	COPS2_ENST00000299259.6_Missense_Mutation_p.C10G|COPS2_ENST00000542928.1_Missense_Mutation_p.C10G|GALK2_ENST00000327171.3_5'Flank	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	10					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TCATCATCGCACATGAAATCA	0.607																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)	dbGAP											0			15											147	137	140					15																	49447748		2196	4295	6491	47235040	SO:0001583	missense	0			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.28T>G	15.37:g.49447748A>C	ENSP00000373553:p.Cys10Gly	59	3.28	2		46	41.77	33	47235040	76	38.71	48	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	HMMPfam_PCI,HMMSmart_SM00088,HMMSmart_SM00753,superfamily_"Winged helix" DNA-binding domain,superfamily_TPR-like	p.C10G	ENST00000388901.5	37	c.28	CCDS32235.1	15	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308242	0.40895	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.68317	2.08	0.31527	N	0.661634	P;P;P	0.34662	0.462;0.462;0.462	B;B;B	0.36534	0.227;0.227;0.227	T	0.60172	-0.7315	9	0.25751	T	0.34	-4.5241	14.9277	0.70893	1.0:0.0:0.0:0.0	.	10;11;10	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	G	10	.	ENSP00000299259:C10G	C	-	1	0	COPS2	47235040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.701000	0.68325	2.105000	0.64084	0.533000	0.62120	TGC	-	NULL		0.607	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS2	protein_coding	OTTHUMT00000417840.1	A	NM_004236		47235040	-1	no_errors	NM_004236.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	49447748	A	C	49447748	3	2	141	1	0	0	0	0	1	0	0	0	3733	159	6	5	1376	5	COPS2	15	49447748	Missense_Mutation	SNP	A	TCGA-AB-2950-03A-01W-0733-08	7401107	49447748	53083644	9	1577											
FCGBP	8857	genome.wustl.edu	37	19	40408297	40408297	+	Silent	SNP	C	C	T	rs368657008		TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr19:40408297C>T	ENST00000221347.6	-	8	4549	c.4542G>A	c.(4540-4542)gcG>gcA	p.A1514A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1514						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCTCCAGCCGCCTGGCAAG	0.592																																						dbGAP											0			19						C		1,4405	2.1+/-5.4	0,1,2202	64	52	56		4542	-9.2	0.5	19		56	0,8586		0,0,4293	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6495	TT,TC,CC		0.0,0.0227,0.0077		1514/5406	40408297	1,12991	2203	4293	6496	45100137	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"IgG Fc binding protein", "Human Fc gamma BP"					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4542G>A	19.37:g.40408297C>T		68	2.86	2		1	0	0	45100137	42	65.57	80	O95784	Silent	SNP	HMMSmart_VWC,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_TIL_assoc,HMMSmart_FOLN,HMMPfam_C8,HMMPfam_TIL	p.A1514	ENST00000221347.6	37	c.4542	CCDS12546.1	19																																																																																			-	HMMPfam_C8		0.592	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890		45100137	-1	no_errors	NM_003890.2	genbank	human	validated	54_36p	silent	SNP	0.937	T	T	40408297	C	T	40408297	2	4	141	1	0	0	0	0	0	0	0	1	5778	639	23	1		1	FCGBP	19	40408297	Silent	SNP	C	TCGA-AB-2950-03A-01W-0733-08		40408297	18720686	10	1578											
ARHGAP35	2909	genome.wustl.edu	37	19	47423101	47423101	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr19:47423101C>T	ENST00000404338.3	+	1	1169	c.1169C>T	c.(1168-1170)gCc>gTc	p.A390V		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	390	FF 2.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CCATGGGATGCCACCAGTCAC	0.458																																						dbGAP											0			19											110	103	106					19																	47423101		1906	4138	6044	52114941	SO:0001583	missense	0			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"Rho GTPase activating proteins"	4591	protein-coding gene	gene with protein product		605277	"glucocorticoid receptor DNA binding factor 1"	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.1169C>T	19.37:g.47423101C>T	ENSP00000385720:p.Ala390Val	95	5.94	6		17	67.31	35	52114941	76	53.89	90	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A390V	ENST00000404338.3	37	c.1169	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	10.82	1.458626	0.26248	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.07567	3.18	5.84	3.69	0.42338	.	0.498399	0.23519	N	0.047303	T	0.05135	0.0137	N	0.14661	0.345	0.33905	D	0.63895	B	0.28605	0.217	B	0.28139	0.086	T	0.19679	-1.0298	10	0.66056	D	0.02	-15.8083	6.6911	0.23171	0.1453:0.7059:0.0:0.1488	.	390	Q9NRY4-2	.	V	390	ENSP00000385720:A390V	ENSP00000324820:A390V	A	+	2	0	ARHGAP35	52114941	0.851000	0.29673	1.000000	0.80357	0.949000	0.60115	0.575000	0.23729	0.784000	0.33661	0.655000	0.94253	GCC	-	HMMSmart_SM00441		0.458	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRLF1	protein_coding	OTTHUMT00000466652.1	C	NM_004491		52114941	1	no_errors	NM_004491.4	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	47423101	C	T	47423101	3	4	141	1	0	0	0	0	1	0	0	0	6795	739	26	2	1171	2	ARHGAP35	19	47423101	Missense_Mutation	SNP	C	TCGA-AB-2950-03A-01W-0733-08	7014804	47423101	11705882	11	1579											
B3GALT5	10317	genome.wustl.edu	37	21	41033192	41033192	+	Missense_Mutation	SNP	G	G	A	rs369365169		TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chr21:41033192G>A	ENST00000380620.4	+	5	1298	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V236I|B3GALT5_ENST00000343118.4_Missense_Mutation_p.V236I|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V236I			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	236					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CTCCAAGAGCGTCCCATACAT	0.542																																						dbGAP											0			21						G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	92	92	92		706,706,706,706,706	3.6	0.1	21		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	B3GALT5	NM_006057.1,NM_033170.1,NM_033171.1,NM_033172.1,NM_033173.1	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	236/311,236/311,236/311,236/311,236/311	41033192	1,13005	2203	4300	6503	39955062	SO:0001583	missense	0			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"Beta 3-glycosyltransferases"	920	protein-coding gene	gene with protein product	"homolog of C. elegans Bt toxin resistance gene bre-5", "GlcNAc-beta-1,3-galactosyltransferase 5"	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.706G>A	21.37:g.41033192G>A	ENSP00000369994:p.Val236Ile	134	3.52	5					39955062	303	41.62	216	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Missense_Mutation	SNP	HMMPfam_Galactosyl_T	p.V236I	ENST00000380620.4	37	c.706	CCDS13667.1	21	.	.	.	.	.	.	.	.	.	.	G	0.259	-1.000971	0.02128	0.0	1.16E-4	ENSG00000183778	ENST00000380620;ENST00000380618;ENST00000343118;ENST00000398714	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.49	3.56	0.40772	.	0.245691	0.27759	N	0.017980	T	0.26955	0.0660	L	0.33189	0.99	0.26116	N	0.980614	P	0.35174	0.488	B	0.32624	0.149	T	0.11567	-1.0582	10	0.12766	T	0.61	.	10.1276	0.42658	0.2345:0.0:0.7655:0.0	.	236	Q9Y2C3	B3GT5_HUMAN	I	236	ENSP00000369994:V236I;ENSP00000369992:V236I;ENSP00000343318:V236I;ENSP00000381699:V236I	ENSP00000343318:V236I	V	+	1	0	B3GALT5	39955062	0.000000	0.05858	0.088000	0.20740	0.046000	0.14306	0.658000	0.24979	1.188000	0.43014	0.655000	0.94253	GTC	-	HMMPfam_Galactosyl_T		0.542	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT5	protein_coding	OTTHUMT00000195008.2	G	NM_033170		39955062	1	no_errors	NM_006057.1	genbank	human	reviewed	54_36p	missense	SNP	0.292	A	A	41033192	G	A	41033192	3	1	141	1	0	0	0	0	1	0	0	0	1250	1145	40	1	708	1	B3GALT5	21	41033192	Missense_Mutation	SNP	G	TCGA-AB-2950-03A-01W-0733-08		41033192	7096703	12	1580											
ARHGEF6	9459	genome.wustl.edu	37	X	135772783	135772783	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2950-03A-01W-0733-08	TCGA-AB-2950-11A-01W-0732-08	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dce07a7f-06d3-415f-a454-8ebdf7244d4f	87d2a3f8-e5bd-4b87-bde0-2c2b49f2b42e	g.chrX:135772783delC	ENST00000250617.6	-	10	2376	c.1171delG	c.(1171-1173)gaafs	p.E391fs	ARHGEF6_ENST00000370620.1_Frame_Shift_Del_p.E237fs|ARHGEF6_ENST00000535227.1_Frame_Shift_Del_p.E264fs|ARHGEF6_ENST00000370622.1_Frame_Shift_Del_p.E237fs	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	391	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATATGCCGTTCTAACTCTTGC	0.463																																						dbGAP											0			X											163	129	140					X																	135772783		2203	4300	6503	135600449	SO:0001589	frameshift_variant	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	685	protein-coding gene	gene with protein product	"Rac/Cdc42 guanine exchange factor (GEF) 6", "PAK-interacting exchange factor, alpha", "rho guanine nucleotide exchange factor 6"	300267	"mental retardation, X-linked 46"	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.1171delG	X.37:g.135772783delC	ENSP00000250617:p.Glu391fs	104	1.83	2		9	70	49	135600449	39	57.28	59	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Frame_Shift_Del	DEL	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,superfamily_Calponin-homology domain CH-domain,superfamily_PH domain-like	p.E391fs	ENST00000250617.6	37	c.1171	CCDS14660.1	X																																																																																			-	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain)		0.463	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	protein_coding	OTTHUMT00000058511.2	C	NM_004840		135600449	-1	no_errors	NM_004840.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	135772783	C	-	135772783	7	5	141	1	0	1	0	1	0	0	0	0	910	922	32	0	1211	0	ARHGEF6	23	135772783	Frame_Shift_Del	DEL	C	TCGA-AB-2950-03A-01W-0733-08		135772783	19497777	13	1581											
NRAS	4893	genome.wustl.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	rs121913237		TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	1						C	ASP/GLY	0,4406		0,0,2203	206	184	191	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	35	5.6	1	1	dbSNP_133	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRAS	NM_002524.4	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/190	115258747	1,13005	2203	4300	6503	115060270	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.35G>A	1.37:g.115258747C>T	ENSP00000358548:p.Gly12Asp	207	0.48	1		43	18.18	10	115060270	266	11.55	35	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12D	ENST00000369535.4	37	c.35	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.524414	0.96431	0.0	1.16E-4	ENSG00000213281	ENST00000369535	T	0.78595	-1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85252	0.5654	M	0.92604	3.325	0.80722	D	1	B	0.32467	0.372	B	0.42827	0.399	D	0.86173	0.1601	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	D	12	ENSP00000358548:G12D	ENSP00000358548:G12D	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060270	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115258747	C	T	115258747	3	4	142	1	0	0	0	0	1	0	0	0	10640	507	18	2	550	2	NRAS	1	115258747	Missense_Mutation	SNP	C	TCGA-AB-2952-03A-01W-0733-08		115258747	133991874	1	1582											
TRIM45	80263	genome.wustl.edu	37	1	117663343	117663343	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr1:117663343C>T	ENST00000256649.4	-	1	1007	c.481G>A	c.(481-483)Gct>Act	p.A161T	TRIM45_ENST00000369461.3_Missense_Mutation_p.A104T|TRIM45_ENST00000369464.3_Missense_Mutation_p.A161T	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	161					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TACCTATGAGCCTGGCAGCAG	0.522																																						dbGAP											0			1											95	90	92					1																	117663343		2203	4300	6503	117464866	SO:0001583	missense	0				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers"	19018	protein-coding gene	gene with protein product		609318	"tripartite motif-containing 45"			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.481G>A	1.37:g.117663343C>T	ENSP00000256649:p.Ala161Thr	195	7.58	16		7	36.36	4	117464866	232	43.44	182	Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	HMMPfam_zf-B_box,HMMSmart_SM00336,HMMSmart_SM00557,HMMSmart_SM00184,HMMSmart_SM00502,superfamily_E set domains,HMMPfam_Filamin,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_RING/U-box	p.A161T	ENST00000256649.4	37	c.481	CCDS893.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.114803	0.94339	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;T;T	0.41065	1.01;1.01;1.01	5.0	5.0	0.66597	Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	T	0.57651	0.2068	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.57236	-0.7846	10	0.46703	T	0.11	-15.3836	17.4617	0.87621	0.0:1.0:0.0:0.0	.	161;161	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	T	161;161;104	ENSP00000256649:A161T;ENSP00000358476:A161T;ENSP00000358473:A104T	ENSP00000256649:A161T	A	-	1	0	TRIM45	117464866	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.119000	0.64679	2.579000	0.87056	0.561000	0.74099	GCT	-	HMMPfam_zf-B_box,HMMSmart_SM00336		0.522	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	protein_coding	OTTHUMT00000033503.1	C	NM_025188		117464866	-1	no_errors	NM_025188.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	117663343	C	T	117663343	3	4	142	1	0	0	0	0	1	0	0	0	16517	739	26	2	1285	2	TRIM45	1	117663343	Missense_Mutation	SNP	C	TCGA-AB-2952-03A-01W-0733-08	2404596	117663343	131587278	2	1583											
ADCY10	55811	genome.wustl.edu	37	1	167873180	167873180	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr1:167873180T>A	ENST00000367851.4	-	3	382	c.198A>T	c.(196-198)agA>agT	p.R66S	ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	66	Guanylate cyclase 1. {ECO:0000255|PROSITE-ProRule:PRU00099}.				cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCTCAGCCCCTCTGTCCATGT	0.453																																						dbGAP											0			1											161	144	150					1																	167873180		2203	4300	6503	166139804	SO:0001583	missense	0			AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"Adenylate cyclases"	21285	protein-coding gene	gene with protein product	"soluble adenylyl cyclase", "Hypercalciuria, absorptive, 2"	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.198A>T	1.37:g.167873180T>A	ENSP00000356825:p.Arg66Ser	236	6.35	16					166139804	158	40.07	109	B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain,superfamily_TPR-like	p.R66S	ENST00000367851.4	37	c.198	CCDS1265.1	1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067618	0.55539	.	.	ENSG00000143199	ENST00000367851	T	0.32753	1.44	5.72	-1.24	0.09435	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.52532	D	0.000065	T	0.11281	0.0275	L	0.29908	0.895	0.34201	D	0.673135	D	0.52996	0.957	P	0.53861	0.736	T	0.08994	-1.0695	9	0.35671	T	0.21	-10.6806	1.4843	0.02444	0.2626:0.0805:0.2309:0.426	.	66	Q96PN6	ADCYA_HUMAN	S	66	ENSP00000356825:R66S	ENSP00000356825:R66S	R	-	3	2	ADCY10	166139804	0.981000	0.34729	0.997000	0.53966	0.824000	0.46624	-0.178000	0.09782	-0.144000	0.11314	-0.250000	0.11733	AGA	-	HMMPfam_Guanylate_cyc,superfamily_Adenylyl and guanylyl cyclase catalytic domain		0.453	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY10	protein_coding	OTTHUMT00000083663.1	T	NM_018417		166139804	-1	no_errors	NM_018417.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	167873180	T	A	167873180	3	1	142	1	0	0	0	0	1	0	0	0	293	1548	54	5	4758	5	ADCY10	1	167873180	Missense_Mutation	SNP	T	TCGA-AB-2952-03A-01W-0733-08	50209837	167873180	81377441	3	1584											
FAT1	2195	genome.wustl.edu	37	4	187584737	187584737	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr4:187584737C>G	ENST00000441802.2	-	3	3505	c.3296G>C	c.(3295-3297)cGt>cCt	p.R1099P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1099	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGTCGATTCACGGTCCAGTCG	0.458										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0			4											72	69	70					4																	187584737		1978	4171	6149	187821731	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"Cadherins / Cadherin-related"	3595	protein-coding gene	gene with protein product	"cadherin-related family member 8"	600976	"FAT tumor suppressor (Drosophila) homolog", "FAT tumor suppressor homolog 1 (Drosophila)"	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.3296G>C	4.37:g.187584737C>G	ENSP00000406229:p.Arg1099Pro	119	6.3	8					187821731	108	39.11	70		Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00282,HMMSmart_SM00179,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.R1099P	ENST00000441802.2	37	c.3296	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.368962	0.82463	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.59906	0.23	5.07	5.07	0.68467	Cadherin (4);Cadherin-like (1);	0.051954	0.85682	D	0.000000	D	0.85296	0.5664	H	0.97983	4.12	0.53688	D	0.999977	D	0.76494	0.999	D	0.74023	0.982	D	0.90705	0.4623	10	0.72032	D	0.01	.	18.6382	0.91385	0.0:1.0:0.0:0.0	.	1099	Q14517	FAT1_HUMAN	P	1099	ENSP00000406229:R1099P	ENSP00000260147:R1099P	R	-	2	0	FAT1	187821731	0.993000	0.37304	0.958000	0.39756	0.980000	0.70556	2.855000	0.48333	2.645000	0.89757	0.655000	0.94253	CGT	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cadherin-like		0.458	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	protein_coding	OTTHUMT00000360209.3	C	NM_005245		187821731	-1	no_errors	NM_005245.3	genbank	human	reviewed	54_36p	missense	SNP	0.989	G	G	187584737	C	G	187584737	3	3	142	1	0	0	0	0	1	0	0	0	5689	536	19	4	10570	4	FAT1	4	187584737	Missense_Mutation	SNP	C	TCGA-AB-2952-03A-01W-0733-08		187584737	3569539	4	1585											
C8orf80	389643	genome.wustl.edu	37	8	27922211	27922211	+	Missense_Mutation	SNP	C	C	T	rs567570205		TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr8:27922211C>T	ENST00000413272.2	-	7	891	c.749G>A	c.(748-750)cGc>cAc	p.R250H	NUGGC_ENST00000341513.6_Missense_Mutation_p.R250H	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	250					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										CCTCTGTGTGCGGATGTAGGG	0.562																																						dbGAP											0			8											71	73	72					8																	27922211		2168	4264	6432	27978130	SO:0001583	missense	0			AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"speckled-like pattern in the germinal center"		"chromosome 8 open reading frame 80"	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.749G>A	8.37:g.27922211C>T	ENSP00000408697:p.Arg250His	176	3.3	6		3	0	0	27978130	110	17.91	24	Q6ZP73	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R250H	ENST00000413272.2	37	c.749	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946618	0.53186	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.15139	2.45;2.45	5.93	5.06	0.68205	Dynamin, GTPase domain (1);	0.000000	0.56097	D	0.000022	T	0.29524	0.0736	L	0.45228	1.405	0.34132	D	0.665378	D	0.89917	1.0	D	0.67231	0.95	T	0.37033	-0.9723	10	0.30854	T	0.27	-17.9409	11.1964	0.48715	0.0:0.9157:0.0:0.0843	.	250	Q68CJ6	SLIP_HUMAN	H	250	ENSP00000408697:R250H;ENSP00000345031:R250H	ENSP00000345031:R250H	R	-	2	0	C8orf80	27978130	0.979000	0.34478	0.988000	0.46212	0.537000	0.34900	1.515000	0.35845	1.521000	0.48983	0.650000	0.86243	CGC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.562	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C8orf80	protein_coding	OTTHUMT00000342494.1	C	NM_001010906		27978130	-1	no_errors	NM_001010906.1	genbank	human	predicted	54_36p	missense	SNP	0.973	T	T	27922211	C	T	27922211	3	4	142	1	0	0	0	0	1	0	0	0	2439	768	27	1	1693	1	C8orf80	8	27922211	Missense_Mutation	SNP	C	TCGA-AB-2952-03A-01W-0733-08		27922211	118441811	5	1586											
GLIS3	169792	genome.wustl.edu	37	9	3828379	3828379	+	Missense_Mutation	SNP	G	G	A	rs76094493	byFrequency	TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr9:3828379G>A	ENST00000324333.10	-	10	2414	c.2221C>T	c.(2221-2223)Ctc>Ttc	p.L741F	GLIS3_ENST00000381971.3_Missense_Mutation_p.L896F|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	741					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCCCAAAGAGGCTCGAGGAA	0.542													g|||	201	0.0401358	0.1437	0.0144	5008	,	,		20882	0		0.001	False		,,,				2504	0					dbGAP											0			9						G	PHE/LEU,PHE/LEU	539,3867	243.1+/-252.9	29,481,1693	50	49	49		2686,2221	3.9	1	9	dbSNP_131	49	5,8595	3.7+/-12.6	0,5,4295	yes	missense,missense	GLIS3	NM_001042413.1,NM_152629.3	22,22	29,486,5988	AA,AG,GG		0.0581,12.2333,4.1827	probably-damaging,probably-damaging	896/931,741/776	3828379	544,12462	2203	4300	6503	3818379	SO:0001583	missense	0			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"Zinc fingers, C2H2-type"	28510	protein-coding gene	gene with protein product		610192	"zinc finger protein 515"	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2221C>T	9.37:g.3828379G>A	ENSP00000325494:p.Leu741Phe	157	5.42	9					3818379	132	39.27	86	B1AL19|Q1PHK5	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.L896F	ENST00000324333.10	37	c.2686	CCDS6451.1	9	54	0.024725274725274724	48	0.0975609756097561	6	0.016574585635359115	0	0.0	0	0.0	g	11.64	1.697695	0.30142	0.122333	5.81E-4	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11604	2.79;2.76	5.92	3.88	0.44766	.	0.152154	0.28748	N	0.014274	T	0.00144	0.0004	L	0.27053	0.805	0.31376	N	0.679605	P;P;P	0.49783	0.919;0.928;0.883	P;P;B	0.47573	0.51;0.55;0.299	T	0.12656	-1.0539	10	0.16896	T	0.51	.	11.6478	0.51271	0.0:0.201:0.6324:0.1666	.	336;896;741	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	F	741;896	ENSP00000325494:L741F;ENSP00000371398:L896F	ENSP00000325494:L741F	L	-	1	0	GLIS3	3818379	0.997000	0.39634	0.998000	0.56505	0.128000	0.20619	0.570000	0.23653	1.477000	0.48234	0.650000	0.86243	CTC	-	NULL		0.542	GLIS3-003	KNOWN	basic|CCDS	protein_coding	GLIS3	protein_coding	OTTHUMT00000051559.1	G	NM_152629		3818379	-1	no_errors	NM_001042413.1	genbank	human	reviewed	54_36p	missense	SNP	0.997	A	A	3828379	G	A	3828379	3	1	142	1	0	0	0	0	1	0	0	0	6447	1000	35	2	110	2	GLIS3	9	3828379	Missense_Mutation	SNP	G	TCGA-AB-2952-03A-01W-0733-08		3828379	137385052	6	1587											
DSCAML1	57453	genome.wustl.edu	37	11	117301646	117301646	+	Silent	SNP	G	G	A	rs146220477		TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr11:117301646G>A	ENST00000321322.6	-	32	5659	c.5658C>T	c.(5656-5658)caC>caT	p.H1886H	DSCAML1_ENST00000527706.1_Silent_p.H1616H	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1826					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAAACTTGGCGTGCTGCAGCT	0.567																																						dbGAP											0			11						G		1,4401	2.1+/-5.4	0,1,2200	220	190	200		5658	1.9	1	11	dbSNP_134	200	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,1,6496	AA,AG,GG		0.0,0.0227,0.0077		1886/2114	117301646	1,12993	2201	4296	6497	116806856	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.5658C>T	11.37:g.117301646G>A		453	11.52	59		1	0	0	116806856	56	47.71	52	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.H1886	ENST00000321322.6	37	c.5658	CCDS8384.1	11																																																																																			-	NULL		0.567	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	G	NM_020693		116806856	-1	no_errors	NM_020693.2	genbank	human	provisional	54_36p	silent	SNP	1.000	A	A	117301646	G	A	117301646	2	1	142	1	0	0	0	0	0	0	0	1	4769	1136	40	1		1	DSCAML1	11	117301646	Silent	SNP	G	TCGA-AB-2952-03A-01W-0733-08		117301646	17704870	7	1588											
GRIK4	2900	genome.wustl.edu	37	11	120702587	120702587	+	Missense_Mutation	SNP	C	C	T	rs556855430		TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr11:120702587C>T	ENST00000527524.2	+	7	825	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	GRIK4_ENST00000438375.2_Missense_Mutation_p.R180W	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	180					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GAAGCTGCTCCGGCAATTCCT	0.602																																						dbGAP											0			11											71	75	74					11																	120702587		2203	4299	6502	120207797	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.538C>T	11.37:g.120702587C>T	ENSP00000435648:p.Arg180Trp	64	1.54	1					120207797	63	16.88	13	A8K9L1	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850	p.R180W	ENST00000527524.2	37	c.538	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	C	20.8	4.043476	0.75732	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	D;D	0.84442	-1.85;-1.85	4.92	3.94	0.45596	Extracellular ligand-binding receptor (1);	0.053861	0.64402	D	0.000001	D	0.89904	0.6850	M	0.63428	1.95	0.58432	D	0.999996	D;D	0.89917	0.999;1.0	P;P	0.62885	0.87;0.908	D	0.91139	0.4944	10	0.87932	D	0	.	15.8474	0.78903	0.1446:0.8554:0.0:0.0	.	180;180	A6H8K8;Q16099	.;GRIK4_HUMAN	W	180	ENSP00000435648:R180W;ENSP00000404063:R180W	ENSP00000404063:R180W	R	+	1	2	GRIK4	120207797	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.534000	0.85438	0.561000	0.74099	CGG	-	HMMPfam_ANF_receptor,superfamily_SSF53822		0.602	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	protein_coding	OTTHUMT00000109760.4	C	NM_014619		120207797	1	no_errors	NM_014619.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	120702587	C	T	120702587	3	4	142	1	0	0	0	0	1	0	0	0	6776	643	23	1	556	1	GRIK4	11	120702587	Missense_Mutation	SNP	C	TCGA-AB-2952-03A-01W-0733-08	3400941	120702587	14303929	8	1589											
MDM2	4193	genome.wustl.edu	37	12	69230517	69230517	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr12:69230517A>C	ENST00000350057.5	+	8	813	c.813A>C	c.(811-813)gaA>gaC	p.E271D	MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.E101D|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.E126D|MDM2_ENST00000462284.1_Missense_Mutation_p.E302D|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Missense_Mutation_p.E126D|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.E241D|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.E101D|MDM2_ENST00000258148.7_Missense_Mutation_p.E247D|MDM2_ENST00000544561.1_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	296	ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP. {ECO:0000250}.|Region II.				cellular response to acid chemical (GO:0071229)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to estrogen stimulus (GO:0071391)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to UV-C (GO:0071494)|cellular response to vitamin B1 (GO:0071301)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment of protein localization (GO:0045184)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of protein processing (GO:0010955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-lysine modification (GO:0018205)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein export from nucleus (GO:0046827)|protein complex assembly (GO:0006461)|protein destabilization (GO:0031648)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of protein catabolic process (GO:0042176)|response to antibiotic (GO:0046677)|response to carbohydrate (GO:0009743)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ether (GO:0045472)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to morphine (GO:0043278)|synaptic transmission (GO:0007268)|traversing start control point of mitotic cell cycle (GO:0007089)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AAGATCCTGAAATTTCCTTAG	0.318			A		"sarcoma, glioma, colorectal, other"																																	dbGAP		Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		"M, O, E, L"	0			12											152	142	145					12																	69230517		1823	4076	5899	67516784	SO:0001583	missense	0				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679			6973	protein-coding gene	gene with protein product		164785	"mouse double minute 2, human homolog of; p53-binding protein", "Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse)", "Mdm2 p53 binding protein homolog (mouse)"			1614537, 16905769	Standard	NM_002392		Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.813A>C	12.37:g.69230517A>C	ENSP00000266624:p.Glu271Asp	153	0.65	1		25	0	0	67516784	236	20.2	60	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	Missense_Mutation	SNP	HMMPfam_zf-RanBP,PatternScan_ZF_RANBP2_1,HMMPfam_SWIB,superfamily_SWIB/MDM2 domain,superfamily_RING/U-box	p.E302D	ENST00000350057.5	37	c.906		12	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332674	0.60853	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000258149;ENST00000356290;ENST00000540827;ENST00000311440;ENST00000358483;ENST00000311420;ENST00000258148;ENST00000393415;ENST00000523991;ENST00000350057;ENST00000299252;ENST00000360430	T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.73	2.22	0.28083	.	0.091732	0.85682	D	0.000000	T	0.46814	0.1412	M	0.63843	1.955	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.998;0.987;0.997;0.955	D;D;D;D;P	0.91635	0.999;0.984;0.911;0.956;0.837	T	0.24048	-1.0171	9	.	.	.	-10.6551	8.2889	0.31946	0.6628:0.0:0.3372:0.0	.	251;296;247;101;302	Q00987-9;Q00987;G3XA89;Q00987-2;Q00987-11	.;MDM2_HUMAN;.;.;.	D	302;251;241;126;101;249;126;257;247;249;126;271;126;101	ENSP00000417281:E302D;ENSP00000258149:E241D;ENSP00000348637:E126D;ENSP00000440932:E101D;ENSP00000258148:E247D;ENSP00000266624:E271D;ENSP00000299252:E126D;ENSP00000353611:E101D	.	E	+	3	2	MDM2	67516784	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.227000	0.42972	0.233000	0.21120	-0.290000	0.09829	GAA	-	NULL		0.318	MDM2-033	NOVEL	basic|exp_conf	protein_coding	MDM2	protein_coding	OTTHUMT00000402665.1	A	NM_006880		67516784	1	no_errors	NM_002392.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	69230517	A	C	69230517	3	2	142	1	0	0	0	0	1	0	0	0	9413	11	1	5	944	5	MDM2	12	69230517	Missense_Mutation	SNP	A	TCGA-AB-2952-03A-01W-0733-08		69230517	64621378	9	1590											
C15orf60	283677	genome.wustl.edu	37	15	73735530	73735530	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr15:73735530G>A	ENST00000331090.6	+	1	32	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	C15orf60_ENST00000560581.1_Missense_Mutation_p.A2T	NM_001042367.1	NP_001035826.1	Q7Z4M0	RE114_HUMAN		2					DNA recombination (GO:0006310)|meiotic nuclear division (GO:0007126)					endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GCAGGACATGGCGGAGGCAGG	0.652																																						dbGAP											0			15											12	18	16					15																	73735530		2105	4218	6323	71522583	SO:0001583	missense	0																														ENST00000331090.6:c.4G>A	15.37:g.73735530G>A	ENSP00000328423:p.Ala2Thr	84	5.62	5					71522583	63	44.74	51		Missense_Mutation	SNP	NULL	p.A2T	ENST00000331090.6	37	c.4	CCDS45296.1	15	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785645	0.49997	.	.	ENSG00000183324	ENST00000331090	T	0.52983	0.64	3.45	2.51	0.30379	.	0.348811	0.24700	N	0.036303	T	0.45054	0.1323	L	0.56769	1.78	0.23724	N	0.997018	P	0.45957	0.869	P	0.44647	0.456	T	0.38265	-0.9669	10	0.66056	D	0.02	-4.0555	8.3336	0.32202	0.0:0.0:0.7669:0.233	.	2	Q7Z4M0	CO060_HUMAN	T	2	ENSP00000328423:A2T	ENSP00000328423:A2T	A	+	1	0	C15orf60	71522583	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	2.222000	0.42926	0.989000	0.38761	0.561000	0.74099	GCG	-	NULL		0.652	C15orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf60	protein_coding	OTTHUMT00000419069.1	G			71522583	1	no_errors	NM_001042367.1	genbank	human	predicted	54_36p	missense	SNP	0.997	A	A	73735530	G	A	73735530	3	1	142	1	0	0	0	0	1	0	0	0	1808	1203	42	2	6	2	C15orf60	15	73735530	Missense_Mutation	SNP	G	TCGA-AB-2952-03A-01W-0733-08		73735530	28795862	10	1591											
TP53	7157	genome.wustl.edu	37	17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr17:7577081T>C	ENST00000269305.4	-	8	1046	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E286G|TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E286G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGATTCTCTTCCTCTGTGCG	0.562		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"L, E, M, O"	51	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	large_intestine(9)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|upper_aerodigestive_tract(4)|lung(4)|breast(4)|bone(4)|stomach(3)|central_nervous_system(3)|urinary_tract(3)|oesophagus(2)|ovary(2)|soft_tissue(1)|skin(1)	17	GRCh37	CM920679	TP53	M							95	81	86					17																	7577081		2203	4300	6503	7517806	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"Li-Fraumeni syndrome"	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.857A>G	17.37:g.7577081T>C	ENSP00000269305:p.Glu286Gly	276	9.21	28		24	90.12	228	7517806	38	81.78	175	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMPfam_P53,HMMPfam_P53_TAD	p.E286G	ENST00000269305.4	37	c.857	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.60	3.431106	0.62844	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99859	-7.24;-7.24;-7.24;-7.24;-7.24;-7.24	5.12	4.04	0.47022	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.989;0.992;0.995	D	0.97429	1.0014	10	0.87932	D	0	-23.2961	9.0226	0.36209	0.0:0.0873:0.0:0.9127	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	286;286;286;286;286;275;154	ENSP00000352610:E286G;ENSP00000269305:E286G;ENSP00000398846:E286G;ENSP00000391127:E286G;ENSP00000391478:E286G;ENSP00000425104:E154G	ENSP00000269305:E286G	E	-	2	0	TP53	7517806	1.000000	0.71417	0.970000	0.41538	0.305000	0.27757	7.447000	0.80620	0.965000	0.38133	-0.379000	0.06801	GAA	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546		7517806	-1	no_errors	NM_000546.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	7577081	T	C	7577081	3	2	142	1	0	0	0	0	1	0	0	0	16378	1783	62	3	429	3	TP53	17	7577081	Missense_Mutation	SNP	T	TCGA-AB-2952-03A-01W-0733-08		7577081	73618129	11	1592											
CEBPA	1050	genome.wustl.edu	37	19	33792895	33792896	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	CC	CC	CC	-	CC	CC	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr19:33792895_33792896delCC	ENST00000498907.2	-	1	574_575	c.425_426delGG	c.(424-426)aggfs	p.R142fs	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	142					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.L78_A174del(1)|p.R142T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GGGGCTCCAGCCTGCCGTCCAG	0.802			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	2	Substitution - Missense(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)	19																																								38484736	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.425_426delGG	19.37:g.33792895_33792896delCC	ENSP00000427514:p.Arg142fs	0	0	0		0	51.35	114	38484735	0	0	0	A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.R142fs	ENST00000498907.2	37	c.426_425	CCDS54243.1	19																																																																																			-	NULL		0.802	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	CC	NM_004364		38484736	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.999:1.000	-	-	33792896	CC	-	33792895	7	5	142	1	0	1	0	1	0	0	0	0	3199	738	26	0	654	0	CEBPA	19	33792895	Frame_Shift_Del	DEL	CC	TCGA-AB-2952-03A-01W-0733-08		33792895	25336088	12	1593											
PRX	57716	genome.wustl.edu	37	19	40902998	40902998	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr19:40902998T>C	ENST00000324001.7	-	7	1531	c.1261A>G	c.(1261-1263)Aag>Gag	p.K421E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	421					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGGCATCTTGATGGTGGGC	0.597																																						dbGAP											0			19											56	61	59					19																	40902998		2203	4299	6502	45594838	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1261A>G	19.37:g.40902998T>C	ENSP00000326018:p.Lys421Glu	74	9.64	8		3	50	3	45594838	63	43.86	50	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like	p.K421E	ENST00000324001.7	37	c.1261	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	T	15.05	2.718396	0.48622	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02656	4.21	4.65	4.65	0.58169	.	0.125508	0.36101	N	0.002782	T	0.06325	0.0163	M	0.68317	2.08	0.80722	D	1	P	0.46512	0.879	P	0.45639	0.488	T	0.27191	-1.0081	10	0.42905	T	0.14	-24.3928	11.6968	0.51548	0.0:0.0:0.0:1.0	.	421	Q9BXM0	PRAX_HUMAN	E	421	ENSP00000326018:K421E	ENSP00000326018:K421E	K	-	1	0	PRX	45594838	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	1.578000	0.36525	1.950000	0.56595	0.533000	0.62120	AAG	-	NULL		0.597	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	protein_coding	OTTHUMT00000462582.1	T	NM_020956		45594838	-1	no_errors	NM_181882.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	C	C	40902998	T	C	40902998	3	2	142	1	0	0	0	0	1	0	0	0	12642	1821	63	3	3128	3	PRX	19	40902998	Missense_Mutation	SNP	T	TCGA-AB-2952-03A-01W-0733-08	7110103	40902998	18225985	13	1594											
EFCAB6	64800	genome.wustl.edu	37	22	43985964	43985964	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chr22:43985964G>T	ENST00000262726.7	-	24	3275	c.3022C>A	c.(3022-3024)Ctg>Atg	p.L1008M	EFCAB6_ENST00000396231.2_Missense_Mutation_p.L856M	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1008					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTGTTTAGCAGATGGGTCAGC	0.423																																						dbGAP											0			22											216	193	201					22																	43985964		2203	4300	6503	42317297	SO:0001583	missense	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"EF-hand domain containing"	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3022C>A	22.37:g.43985964G>T	ENSP00000262726:p.Leu1008Met	227	1.3	3					42317297	240	22.36	70	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	HMMSmart_SM00054,HMMPfam_DUF1880,PatternScan_EF_HAND_1,superfamily_EF-hand	p.L1008M	ENST00000262726.7	37	c.3022	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774372	0.31411	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	D;D	0.84516	-1.86;-1.86	4.73	2.44	0.29823	EF-hand-like domain (1);	0.212982	0.29987	N	0.010691	T	0.72455	0.3462	N	0.16201	0.385	0.19945	N	0.999946	P;P	0.48294	0.759;0.908	B;P	0.44518	0.25;0.452	T	0.64309	-0.6438	10	0.37606	T	0.19	-9.3779	8.1	0.30850	0.0785:0.0:0.6479:0.2736	.	856;1008	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	M	856;1008	ENSP00000379533:L856M;ENSP00000262726:L1008M	ENSP00000262726:L1008M	L	-	1	2	EFCAB6	42317297	0.952000	0.32445	0.010000	0.14722	0.017000	0.09413	2.098000	0.41757	1.095000	0.41419	0.555000	0.69702	CTG	-	superfamily_EF-hand		0.423	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	protein_coding	OTTHUMT00000353176.1	G	NM_022785		42317297	-1	no_errors	NM_022785.2	genbank	human	validated	54_36p	missense	SNP	0.478	T	T	43985964	G	T	43985964	3	4	142	1	0	0	0	0	1	0	0	0	4939	933	33	4	1519	4	EFCAB6	22	43985964	Missense_Mutation	SNP	G	TCGA-AB-2952-03A-01W-0733-08		43985964	7318602	14	1595											
GPR101	83550	genome.wustl.edu	37	X	136113704	136113704	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2952-03A-01W-0733-08	TCGA-AB-2952-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b522ecb6-9d9a-4fbf-806e-5a20aeed9d06	0f4c32e9-65f3-464b-aa29-65e10407a75e	g.chrX:136113704C>T	ENST00000298110.1	-	1	129	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					ACGAAAGAGGCGGCGAGGAAG	0.582																																						dbGAP											0			X											81	68	73					X																	136113704		2203	4300	6503	135941370	SO:0001583	missense	0			AF411115	CCDS14662.1	Xq26.3	2014-01-30			ENSG00000165370	ENSG00000165370		"GPCR / Class A : Orphans"	14963	protein-coding gene	gene with protein product		300393				11574155	Standard	NM_054021		Approved		uc011mwh.2	Q96P66	OTTHUMG00000022521	ENST00000298110.1:c.130G>A	X.37:g.136113704C>T	ENSP00000298110:p.Ala44Thr	497	6.72	36					135941370	53	41.3	38	Q5JSM8|Q8NG93	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.A44T	ENST00000298110.1	37	c.130	CCDS14662.1	X	.	.	.	.	.	.	.	.	.	.	C	1.868	-0.461026	0.04508	.	.	ENSG00000165370	ENST00000298110	T	0.37235	1.21	5.09	3.2	0.36748	.	.	.	.	.	T	0.19685	0.0473	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.12156	0.007	T	0.15350	-1.0440	9	0.62326	D	0.03	-5.1665	4.8663	0.13609	0.3375:0.5567:0.0:0.1058	.	44	Q96P66	GP101_HUMAN	T	44	ENSP00000298110:A44T	ENSP00000298110:A44T	A	-	1	0	GPR101	135941370	0.005000	0.15991	0.003000	0.11579	0.006000	0.05464	0.562000	0.23531	0.930000	0.37217	0.544000	0.68410	GCC	-	superfamily_Family A G protein-coupled receptor-like		0.582	GPR101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR101	protein_coding	OTTHUMT00000058519.1	C			135941370	-1	no_errors	NM_054021.1	genbank	human	provisional	54_36p	missense	SNP	0.001	T	T	136113704	C	T	136113704	3	4	142	1	0	0	0	0	1	0	0	0	6622	768	27	1	1399	1	GPR101	23	136113704	Missense_Mutation	SNP	C	TCGA-AB-2952-03A-01W-0733-08		136113704	19156856	15	1596											
MUC6	4588	genome.wustl.edu	37	11	1028705	1028705	+	Missense_Mutation	SNP	A	A	G	rs200340361	byFrequency	TCGA-AB-2954-03A-01W-0733-08	TCGA-AB-2954-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	0126ea53-18a0-4685-b765-8ebe24f757c5	ce28727d-d1be-4b81-a804-9fe81621842d	g.chr11:1028705A>G	ENST00000421673.2	-	13	1582	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	511	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGGGGCGCAGCTGGACCAC	0.632													a|||	4	0.000798722	0	0	5008	,	,		17454	0.001		0.003	False		,,,				2504	0					dbGAP											0			11						A	PRO/LEU	0,4212		0,0,2106	37	44	42		1532	4.3	0.7	11		42	14,8408		0,14,4197	yes	missense	MUC6	NM_005961.2	98	0,14,6303	GG,GA,AA		0.1662,0.0,0.1108	probably-damaging	511/2440	1028705	14,12620	2106	4211	6317	1018705	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"Mucins"	7517	protein-coding gene	gene with protein product		158374	"mucin 6, gastric"			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1532T>C	11.37:g.1028705A>G	ENSP00000406861:p.Leu511Pro	8	0	0					1018705	1	80	4	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,HMMSmart_SM00215,HMMPfam_C8,HMMPfam_TIL	p.L511P	ENST00000421673.2	37	c.1532	CCDS44513.1	11	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	A	11.56	1.673716	0.29693	0.0	0.001662	ENSG00000184956	ENST00000421673	T	0.60548	0.18	4.34	4.34	0.51931	von Willebrand factor, type D domain (3);	0.848083	0.09283	U	0.823394	T	0.73458	0.3589	M	0.79343	2.45	0.45108	D	0.998125	D	0.76494	0.999	D	0.73708	0.981	T	0.68808	-0.5311	10	0.51188	T	0.08	.	6.3851	0.21556	0.8793:0.0:0.1207:0.0	.	511	Q6W4X9	MUC6_HUMAN	P	511	ENSP00000406861:L511P	ENSP00000406861:L511P	L	-	2	0	MUC6	1018705	0.982000	0.34865	0.699000	0.30290	0.297000	0.27493	2.553000	0.45837	1.749000	0.51849	0.260000	0.18958	CTG	-	HMMPfam_VWD,HMMSmart_SM00216		0.632	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	protein_coding	OTTHUMT00000382120.2	A	XM_290540		1018705	-1	no_errors	NM_005961.2	genbank	human	validated	54_36p	missense	SNP	0.902	G	G	1028705	A	G	1028705	3	3	143	1	0	0	0	0	1	0	0	0	9980	188	7	3	5871	3	MUC6	11	1028705	Missense_Mutation	SNP	A	TCGA-AB-2954-03A-01W-0733-08		1028705	133977811	1	1597											
TAS1R1	80835	genome.wustl.edu	37	1	6636675	6636675	+	Silent	SNP	A	A	G	rs148266626	byFrequency	TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr1:6636675A>G	ENST00000333172.6	+	4	1654	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G	TAS1R1_ENST00000328191.4_Intron|TAS1R1_ENST00000351136.3_Silent_p.G233G	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	487					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGTGGCACGGAAAGGACAACC	0.532													A|||	2	0.000399361	0.0015	0	5008	,	,		22222	0		0	False		,,,				2504	0					dbGAP											0			1						A	,	4,4402	8.1+/-20.4	0,4,2199	68	63	64		1461,699	0.9	0	1	dbSNP_134	64	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TAS1R1	NM_138697.3,NM_177540.2	,	0,4,6499	GG,GA,AA		0.0,0.0908,0.0308	,	487/842,233/588	6636675	4,13002	2203	4300	6503	6559262	SO:0001819	synonymous_variant	0				CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"Taste receptors / Type 1", "GPCR / Unclassified : Taste receptors"	14448	protein-coding gene	gene with protein product		606225	"G protein-coupled receptor 70"	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.1461A>G	1.37:g.6636675A>G		175	4.89	9					6559262	31	43.86	25	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Silent	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I	p.G487	ENST00000333172.6	37	c.1461	CCDS81.1	1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	6.734	0.504213	0.12822	9.08E-4	0.0	ENSG00000173662	ENST00000415267	.	.	.	5.05	0.929	0.19449	.	.	.	.	.	T	0.31702	0.0805	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25082	-1.0142	4	.	.	.	.	7.0406	0.25019	0.6542:0.0:0.3458:0.0	.	.	.	.	G	159	.	.	E	+	2	0	TAS1R1	6559262	0.000000	0.05858	0.013000	0.15412	0.903000	0.53119	0.126000	0.15769	0.131000	0.18576	0.482000	0.46254	GAA	-	superfamily_Periplasmic binding protein-like I		0.532	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	protein_coding	OTTHUMT00000004211.1	A			6559262	1	no_errors	NM_138697.2	genbank	human	reviewed	54_36p	silent	SNP	0.016	G	G	6636675	A	G	6636675	2	3	144	1	0	0	0	0	0	0	0	1	15559	233	9	3		3	TAS1R1	1	6636675	Silent	SNP	A	TCGA-AB-2955-03A-01W-0733-08		6636675	242613946	1	1598											
CHRNB2	1141	genome.wustl.edu	37	1	154543959	154543959	+	Silent	SNP	G	G	A	rs539974140		TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr1:154543959G>A	ENST00000368476.3	+	5	924	c.660G>A	c.(658-660)acG>acA	p.T220T		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	220					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACGACTCTACGTACGTGGACA	0.587																																						dbGAP											0			1											281	214	237					1																	154543959		2203	4300	6503	152810583	SO:0001819	synonymous_variant	0			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"Cholinergic receptors", "Ligand-gated ion channels / Acetylcholine receptors, nicotinic"	1962	protein-coding gene	gene with protein product	"acetylcholine receptor, nicotinic, beta 2 (neuronal)"	118507	"cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.660G>A	1.37:g.154543959G>A		255	8.57	24					152810583	17	48.57	17	Q9UEH9	Silent	SNP	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL	p.T220	ENST00000368476.3	37	c.660	CCDS1070.1	1																																																																																			-	HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like		0.587	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	protein_coding	OTTHUMT00000090697.1	G	NM_000748		152810583	1	no_errors	NM_000748.2	genbank	human	reviewed	54_36p	silent	SNP	0.999	A	A	154543959	G	A	154543959	2	1	144	1	0	0	0	0	0	0	0	1	3391	1132	40	1		1	CHRNB2	1	154543959	Silent	SNP	G	TCGA-AB-2955-03A-01W-0733-08	147907284	154543959	94706662	2	1599											
NBAS	51594	genome.wustl.edu	37	2	15415893	15415893	+	Silent	SNP	T	T	C			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr2:15415893T>C	ENST00000281513.5	-	44	5464	c.5439A>G	c.(5437-5439)gcA>gcG	p.A1813A	NBAS_ENST00000441750.1_Silent_p.A1693A	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1813					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGGCTCCAATGCTTCAAGAG	0.373																																						dbGAP											0			2											64	67	66					2																	15415893		2203	4300	6503	15333344	SO:0001819	synonymous_variant	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.5439A>G	2.37:g.15415893T>C		242	6.56	17		28	37.78	17	15333344	67	39.29	44	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14	p.A1813	ENST00000281513.5	37	c.5439	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	T	8.113	0.779170	0.16120	.	.	ENSG00000151779	ENST00000442506	.	.	.	5.44	-10.9	0.00192	.	.	.	.	.	T	0.45935	0.1367	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56625	-0.7948	4	.	.	.	.	8.5174	0.33255	0.0707:0.2018:0.5285:0.199	.	.	.	.	R	861	.	.	H	-	2	0	NBAS	15333344	0.000000	0.05858	0.011000	0.14972	0.968000	0.65278	-2.190000	0.01247	-1.951000	0.01029	-0.290000	0.09829	CAT	-	NULL		0.373	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	protein_coding	OTTHUMT00000241638.1	T	NM_015909		15333344	-1	no_errors	NM_015909.2	genbank	human	validated	54_36p	silent	SNP	0.222	C	C	15415893	T	C	15415893	2	2	144	1	0	0	0	0	0	0	0	1	10186	1451	51	3		3	NBAS	2	15415893	Silent	SNP	T	TCGA-AB-2955-03A-01W-0733-08		15415893	227783480	3	1600											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	233	8.24	21		34	53.33	40	25310746	50	40	34	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	144	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2955-03A-01W-0733-08	10041349	25457242	217742131	4	1601											
COL7A1	1294	genome.wustl.edu	37	3	48608698	48608698	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr3:48608698G>A	ENST00000328333.8	-	92	7189	c.7082C>T	c.(7081-7083)gCt>gTt	p.A2361V	COL7A1_ENST00000454817.1_Missense_Mutation_p.A2329V	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2361	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCCTGGAGCCCCTTTCTG	0.527																																						dbGAP											0			3											57	59	58					3																	48608698		2203	4300	6503	48583702	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"Collagens", "Fibronectin type III domain containing"	2214	protein-coding gene	gene with protein product	"collagen VII, alpha-1 polypeptide", "LC collagen"	120120	"epidermolysis bullosa, dystrophic, dominant and recessive"	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7082C>T	3.37:g.48608698G>A	ENSP00000332371:p.Ala2361Val	276	6.44	19					48583702	46	37.84	28	Q14054|Q16507	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1,superfamily_BPTI-like,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_vWA-like	p.A2361V	ENST00000328333.8	37	c.7082	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713332	0.48517	.	.	ENSG00000114270	ENST00000328333;ENST00000454817;ENST00000422991	D;D;D	0.93712	-3.27;-3.27;-3.27	4.94	4.05	0.47172	.	0.000000	0.45126	D	0.000396	D	0.90611	0.7056	M	0.62209	1.925	0.34587	D	0.715044	P	0.34934	0.476	B	0.36378	0.223	D	0.90536	0.4499	10	0.18276	T	0.48	.	12.1763	0.54188	0.0859:0.0:0.9141:0.0	.	2361	Q02388	CO7A1_HUMAN	V	2361;2329;26	ENSP00000332371:A2361V;ENSP00000412569:A2329V;ENSP00000391608:A26V	ENSP00000332371:A2361V	A	-	2	0	COL7A1	48583702	0.060000	0.20803	1.000000	0.80357	0.992000	0.81027	1.486000	0.35530	2.439000	0.82584	0.655000	0.94253	GCT	-	HMMPfam_Collagen		0.527	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	protein_coding	OTTHUMT00000257519.1	G	NM_000094		48583702	-1	no_errors	NM_000094.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	48608698	G	A	48608698	3	1	144	1	0	0	0	0	1	0	0	0	3704	971	34	2	1860	2	COL7A1	3	48608698	Missense_Mutation	SNP	G	TCGA-AB-2955-03A-01W-0733-08		48608698	149413732	5	1602											
GATA2	2624	genome.wustl.edu	37	3	128202809	128202809	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr3:128202809G>T	ENST00000341105.2	-	4	1242	c.911C>A	c.(910-912)cCt>cAt	p.P304H	GATA2_ENST00000487848.1_Missense_Mutation_p.P304H|GATA2_ENST00000489987.1_5'Flank|GATA2_ENST00000430265.2_Missense_Mutation_p.P304H	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	304					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P304H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CCGCCAGAGAGGGGTGGCTGT	0.632			Mis		AML(CML blast transformation)																																	dbGAP		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											53	51	52					3																	128202809		2203	4300	6503	129685499	SO:0001583	missense	0			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"GATA zinc finger domain containing"	4171	protein-coding gene	gene with protein product		137295	"GATA-binding protein 2"			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.911C>A	3.37:g.128202809G>T	ENSP00000345681:p.Pro304His	82	3.53	3		6	66.67	12	129685499	12	36.84	7	D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716	p.P304H	ENST00000341105.2	37	c.911	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.176488	0.94846	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99727	-6.55;-6.55;-6.55	4.83	4.83	0.62350	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	H	0.98577	4.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96269	0.9197	10	0.87932	D	0	-23.8594	17.9063	0.88919	0.0:0.0:1.0:0.0	.	304;304	P23769-2;P23769	.;GATA2_HUMAN	H	304	ENSP00000345681:P304H;ENSP00000400259:P304H;ENSP00000417074:P304H	ENSP00000345681:P304H	P	-	2	0	GATA2	129685499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.758000	0.98927	2.205000	0.71048	0.491000	0.48974	CCT	-	HMMPfam_GATA,HMMSmart_ZnF_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716		0.632	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	protein_coding	OTTHUMT00000356925.1	G	NM_032638		129685499	-1	no_errors	NM_032638.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	128202809	G	T	128202809	3	4	144	1	0	0	0	0	1	0	0	0	6254	1000	35	4	543	4	GATA2	3	128202809	Missense_Mutation	SNP	G	TCGA-AB-2955-03A-01W-0733-08	79594111	128202809	69819621	6	1603											
RPS3A	6189	genome.wustl.edu	37	4	152024038	152024038	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr4:152024038C>T	ENST00000509736.1	+	2	107	c.13C>T	c.(13-15)Cac>Tac	p.H5Y	RPS3A_ENST00000506126.1_Missense_Mutation_p.H87Y|RPS3A_ENST00000512690.1_Missense_Mutation_p.H124Y|SNORD73_ENST00000364394.1_RNA|SNORD73A_ENST00000386062.1_RNA|RPS3A_ENST00000514682.1_Missense_Mutation_p.H87Y|RPS3A_ENST00000274065.4_Missense_Mutation_p.H124Y|RPS3A_ENST00000322686.6_Missense_Mutation_p.H111Y					ribosomal protein S3A											endometrium(1)|lung(1)|ovary(1)|pancreas(1)	4	all_hematologic(180;0.093)					GATTGAAGCTCACGTTGATGT	0.373																																						dbGAP											0			4											98	102	100					4																	152024038		2202	4299	6501	152243488	SO:0001583	missense	0			X87373	CCDS3775.1	4q31.2-q31.3	2011-04-05			ENSG00000145425	ENSG00000145425		"S ribosomal proteins"	10421	protein-coding gene	gene with protein product		180478		MFTL		8647443, 1398113	Standard	NM_001006		Approved	S3A	uc003ilz.4	P61247	OTTHUMG00000161445	ENST00000509736.1:c.13C>T	4.37:g.152024038C>T	ENSP00000422994:p.His5Tyr	405	7.32	32		173	50	174	152243488	83	41.96	60		Missense_Mutation	SNP	HMMPfam_Ribosomal_S3Ae,PatternScan_RIBOSOMAL_S3AE	p.H124Y	ENST00000509736.1	37	c.370		4	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485805	0.63962	.	.	ENSG00000145425	ENST00000274065;ENST00000509736;ENST00000505243;ENST00000514682;ENST00000322686;ENST00000508783;ENST00000507327;ENST00000515792;ENST00000506126;ENST00000510993	.	.	.	4.83	4.83	0.62350	.	.	.	.	.	T	0.71896	0.3394	M	0.74647	2.275	0.80722	D	1	P	0.36909	0.573	P	0.45794	0.493	T	0.74290	-0.3713	8	0.49607	T	0.09	.	18.4551	0.90717	0.0:1.0:0.0:0.0	.	124	P61247	RS3A_HUMAN	Y	124;5;87;87;111;87;87;68;87;104	.	ENSP00000346050:H124Y	H	+	1	0	RPS3A	152243488	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.747000	0.85070	2.432000	0.82394	0.543000	0.68304	CAC	-	HMMPfam_Ribosomal_S3Ae		0.373	RPS3A-006	PUTATIVE	basic|exp_conf	protein_coding	RPS3A	protein_coding	OTTHUMT00000364962.2	C			152243488	1	no_errors	NM_001006.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	152024038	C	T	152024038	3	4	144	1	0	0	0	0	1	0	0	0	13644	826	29	2	384	2	RPS3A	4	152024038	Missense_Mutation	SNP	C	TCGA-AB-2955-03A-01W-0733-08		152024038	39130238	7	1604											
PCDHA1	56147	genome.wustl.edu	37	5	140167574	140167574	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr5:140167574G>A	ENST00000504120.2	+	1	1699	c.1699G>A	c.(1699-1701)Gcg>Acg	p.A567T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A567T	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	567					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCTGCTGGCGCCTCGAGT	0.687																																						dbGAP											0			5											85	85	85					5																	140167574		2203	4299	6502	140147758	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"Cadherins / Protocadherins : Clustered"	8663	other	complex locus constituent	"KIAA0345-like 13"	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1699G>A	5.37:g.140167574G>A	ENSP00000420840:p.Ala567Thr	128	9.22	13					140147758	16	37.04	10	O75288|Q9NRT7	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.A567T	ENST00000504120.2	37	c.1699	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	g	6.870	0.529827	0.13127	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.60920	0.15;0.15	3.68	1.8	0.24995	Cadherin-like (1);	0.425559	0.16619	U	0.206589	T	0.33498	0.0865	N	0.17564	0.495	0.09310	N	1	B;B	0.19445	0.004;0.036	B;B	0.15870	0.006;0.014	T	0.16305	-1.0407	10	0.16896	T	0.51	.	5.8025	0.18422	0.0:0.5034:0.2501:0.2466	.	567;567	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	T	567	ENSP00000420840:A567T;ENSP00000367373:A567T	ENSP00000367373:A567T	A	+	1	0	PCDHA1	140147758	0.000000	0.05858	0.542000	0.28115	0.387000	0.30353	0.130000	0.15850	0.152000	0.19188	0.484000	0.47621	GCG	-	superfamily_Cadherin-like		0.687	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	protein_coding	OTTHUMT00000389127.1	G	NM_018900		140147758	1	no_errors	NM_018900.2	genbank	human	reviewed	54_36p	missense	SNP	0.018	A	A	140167574	G	A	140167574	3	1	144	1	0	0	0	0	1	0	0	0	11519	1203	42	2	1701	2	PCDHA1	5	140167574	Missense_Mutation	SNP	G	TCGA-AB-2955-03A-01W-0733-08		140167574	40747686	8	1605											
PRPF4B	8899	genome.wustl.edu	37	6	4057322	4057322	+	Silent	SNP	C	C	G			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr6:4057322C>G	ENST00000337659.6	+	13	2734	c.2634C>G	c.(2632-2634)acC>acG	p.T878T	PRPF4B_ENST00000538861.1_Silent_p.T864T	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	878	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAGGTTGCACCTTATACGAAC	0.348																																						dbGAP											0			6											113	113	113					6																	4057322		2203	4300	6503	4002321	SO:0001819	synonymous_variant	0			U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"PRP4 pre-mRNA processing factor 4 homolog B (yeast)"			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.2634C>G	6.37:g.4057322C>G		164	8.38	15		38	53.57	45	4002321	42	45.45	35	A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Silent	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase	p.T878	ENST00000337659.6	37	c.2634	CCDS4488.1	6																																																																																			-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.348	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF4B	protein_coding	OTTHUMT00000314018.2	C			4002321	1	no_errors	NM_003913.4	genbank	human	reviewed	54_36p	silent	SNP	0.859	G	G	4057322	C	G	4057322	2	3	144	1	0	0	0	0	0	0	0	1	12573	668	24	4		4	PRPF4B	6	4057322	Silent	SNP	C	TCGA-AB-2955-03A-01W-0733-08		4057322	167057745	9	1606											
KRT6A	3853	genome.wustl.edu	37	12	52885485	52885485	+	Silent	SNP	T	T	C			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr12:52885485T>C	ENST00000330722.6	-	2	644	c.576A>G	c.(574-576)gaA>gaG	p.E192E		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	192	Coil 1A.|Rod.			E -> D (in Ref. 1; AAB60696). {ECO:0000305}.	cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACTTTGTTTCCAGAACCT	0.532																																						dbGAP											0			12											66	67	67					12																	52885485		2203	4300	6503	51171752	SO:0001819	synonymous_variant	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"-", "Intermediate filaments type II, keratins (basic)"	6443	protein-coding gene	gene with protein product		148041	"keratin 6C", "keratin 6D"	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.576A>G	12.37:g.52885485T>C		217	8.05	19					51171752	21	55.32	26	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	NULL	p.F333L	ENST00000330722.6	37	c.997	CCDS41786.1	12																																																																																			-	NULL		0.532	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100129218	protein_coding	OTTHUMT00000404978.2	T	NM_005554		51171752	1	no_errors	XM_001718439.1	genbank	human	model	54_36p	missense	SNP	1.000	C	C	52885485	T	C	52885485	2	2	144	1	0	0	0	0	0	0	0	1	8480	1838	64	3		3	KRT6A	12	52885485	Silent	SNP	T	TCGA-AB-2955-03A-01W-0733-08		52885485	80966410	10	1607											
MYH6	4624	genome.wustl.edu	37	14	23874854	23874854	+	Nonsense_Mutation	SNP	G	G	C	rs147148031	byFrequency	TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr14:23874854G>C	ENST00000356287.3	-	3	356	c.327C>G	c.(325-327)taC>taG	p.Y109*	MYH6_ENST00000405093.3_Nonsense_Mutation_p.Y109*			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	109	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.Y109Y(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCAGGCCGCGTAGCGCTCCT	0.577																																						dbGAP											1	Substitution - coding silent(1)	breast(1)	14											144	107	120					14																	23874854		2203	4300	6503	22944694	SO:0001587	stop_gained	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"Myosins / Myosin superfamily : Class II"	7576	protein-coding gene	gene with protein product	"cardiomyopathy, hypertrophic 1"	160710	"myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.327C>G	14.37:g.23874854G>C	ENSP00000348634:p.Tyr109*	668	7.21	52					22944694	71	48.2	67	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Nonsense_Mutation	SNP	HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Y109*	ENST00000356287.3	37	c.327	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	.	28.8	4.950394	0.92660	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	.	.	.	4.08	-0.649	0.11461	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.31	0.37898	0.6199:0.0:0.3801:0.0	.	.	.	.	X	109	.	ENSP00000348634:Y109X	Y	-	3	2	MYH6	22944694	0.000000	0.05858	0.877000	0.34402	0.964000	0.63967	-5.001000	0.00161	-0.223000	0.09943	0.550000	0.68814	TAC	-	HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.577	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	protein_coding	OTTHUMT00000071796.3	G			22944694	-1	no_errors	NM_002471.2	genbank	human	validated	54_36p	nonsense	SNP	1.000	C	C	23874854	G	C	23874854	4	2	144	1	0	0	0	0	0	1	0	0	10038	1140	40	4	5636	4	MYH6	14	23874854	Nonsense_Mutation	SNP	G	TCGA-AB-2955-03A-01W-0733-08		23874854	83474686	11	1608											
PLA2G4D	283748	genome.wustl.edu	37	15	42373282	42373282	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr15:42373282G>A	ENST00000290472.3	-	12	1101	c.1007C>T	c.(1006-1008)aCc>aTc	p.T336I		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	336	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GTAGAGTGAGGTCATGGCCCG	0.592																																						dbGAP											0			15											125	97	107					15																	42373282		2203	4299	6502	40160574	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1007C>T	15.37:g.42373282G>A	ENSP00000290472:p.Thr336Ile	170	3.95	7					40160574	21	44.74	17	Q8N176	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FabD/lysophospholipase-like	p.T336I	ENST00000290472.3	37	c.1007	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	g	14.67	2.604104	0.46423	.	.	ENSG00000159337	ENST00000290472	T	0.09350	2.99	4.29	3.36	0.38483	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.291277	0.25517	N	0.030127	T	0.09379	0.0231	L	0.31926	0.97	0.27265	N	0.95854	B	0.19200	0.034	B	0.28709	0.093	T	0.28839	-1.0031	10	0.22706	T	0.39	-5.7863	10.8665	0.46858	0.0962:0.0:0.9038:0.0	.	336	Q86XP0	PA24D_HUMAN	I	336	ENSP00000290472:T336I	ENSP00000290472:T336I	T	-	2	0	PLA2G4D	40160574	0.999000	0.42202	0.860000	0.33809	0.378000	0.30076	3.201000	0.51059	0.766000	0.33244	0.550000	0.68814	ACC	-	HMMPfam_PLA2_B,HMMSmart_SM00022,superfamily_FabD/lysophospholipase-like		0.592	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	protein_coding	OTTHUMT00000419317.1	G	NM_178034		40160574	-1	no_errors	NM_178034.3	genbank	human	validated	54_36p	missense	SNP	0.864	A	A	42373282	G	A	42373282	3	1	144	1	0	0	0	0	1	0	0	0	12004	1261	44	2	1485	2	PLA2G4D	15	42373282	Missense_Mutation	SNP	G	TCGA-AB-2955-03A-01W-0733-08		42373282	60158110	12	1609											
CCL16	6360	genome.wustl.edu	37	17	34308404	34308404	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr17:34308404G>A	ENST00000293275.3	-	1	128	c.53C>T	c.(52-54)aCt>aTt	p.T18I		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	18					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive chemotaxis (GO:0050918)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAGCCGAAGTAATGATAAG	0.567																																						dbGAP											0			17											69	53	58					17																	34308404		2203	4300	6503	31332517	SO:0001583	missense	0			AB007454	CCDS11303.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000161573	ENSG00000275152		"Chemokine ligands", "Endogenous ligands"	10614	protein-coding gene	gene with protein product		601394	"small inducible cytokine subfamily A (Cys-Cys), member 16"	SCYA16		8661057	Standard	NM_004590		Approved	NCC-4, SCYL4, LEC, HCC-4, LMC, LCC-1, CKb12, Mtn-1	uc002hkl.3	O15467	OTTHUMG00000188402	ENST00000293275.3:c.53C>T	17.37:g.34308404G>A	ENSP00000293275:p.Thr18Ile	931	8.72	89					31332517	95	49.48	95	Q4KKU0	Missense_Mutation	SNP	PatternScan_SMALL_CYTOKINES_CC,HMMPfam_IL8,HMMSmart_SCY,superfamily_Chemokine_IL8	p.T18I	ENST00000293275.3	37	c.53	CCDS11303.1	17	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808187	0.31961	.	.	ENSG00000161573	ENST00000293275	T	0.03272	3.99	3.76	2.72	0.32119	.	.	.	.	.	T	0.04588	0.0125	L	0.55481	1.735	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.35201	-0.9798	9	0.33940	T	0.23	.	6.5822	0.22600	0.1463:0.0:0.8537:0.0	.	18	O15467	CCL16_HUMAN	I	18	ENSP00000293275:T18I	ENSP00000293275:T18I	T	-	2	0	CCL16	31332517	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	0.462000	0.21956	0.877000	0.35895	0.462000	0.41574	ACT	-	NULL		0.567	CCL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCL16	protein_coding	OTTHUMT00000256579.1	G	NM_004590		31332517	-1	no_errors	NM_004590.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A	A	34308404	G	A	34308404	3	1	144	1	0	0	0	0	1	0	0	0	2887	1029	36	2	321	2	CCL16	17	34308404	Missense_Mutation	SNP	G	TCGA-AB-2955-03A-01W-0733-08		34308404	46886806	13	1610											
DNAJC7	7266	genome.wustl.edu	37	17	40133887	40133887	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr17:40133887C>T	ENST00000457167.4	-	12	1606	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	DNAJC7_ENST00000316603.7_Missense_Mutation_p.G401D|DNAJC7_ENST00000426588.3_Missense_Mutation_p.G401D	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	457					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CATATTCATGCCCTCCTCATC	0.473																																					Colon(63;618 1117 8600 10857 19751)	dbGAP											0			17											147	138	141					17																	40133887		1963	4155	6118	37387413	SO:0001583	missense	0			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"Heat shock proteins / DNAJ (HSP40)", "Tetratricopeptide (TTC) repeat domain containing"	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1370G>A	17.37:g.40133887C>T	ENSP00000406463:p.Gly457Asp	340	4.48	16		41	35.94	23	37387413	50	36.25	29	Q7Z784	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMPfam_DnaJ,HMMSmart_SM00271,superfamily_Chaperone J-domain,HMMSmart_SM00028,superfamily_TPR-like	p.G447D	ENST00000457167.4	37	c.1340	CCDS45677.1	17	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791610	0.50102	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.73575	-0.76;-0.76;-0.76	5.46	5.46	0.80206	Heat shock protein DnaJ, N-terminal (2);	0.158517	0.56097	D	0.000034	T	0.57858	0.2082	N	0.11560	0.145	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.54111	-0.8342	10	0.13853	T	0.58	-1.8343	19.3043	0.94155	0.0:1.0:0.0:0.0	.	401;457	Q7Z784;Q99615	.;DNJC7_HUMAN	D	457;401;401	ENSP00000406463:G457D;ENSP00000394327:G401D;ENSP00000313311:G401D	ENSP00000313311:G401D	G	-	2	0	DNAJC7	37387413	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.447000	0.66606	2.548000	0.85928	0.655000	0.94253	GGC	-	superfamily_Chaperone J-domain		0.473	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC7	protein_coding	OTTHUMT00000453366.2	C			37387413	-1	no_errors	NM_003315.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	40133887	C	T	40133887	3	4	144	1	0	0	0	0	1	0	0	0	4654	739	26	2	126	2	DNAJC7	17	40133887	Missense_Mutation	SNP	C	TCGA-AB-2955-03A-01W-0733-08	5825483	40133887	41061323	14	1611											
ZNF254	9534	genome.wustl.edu	37	19	24288856	24288856	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr19:24288856C>G	ENST00000357002.4	+	2	260	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V	ZNF254_ENST00000339642.6_Missense_Mutation_p.L49V|ZNF254_ENST00000342944.6_Intron	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	49	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTACAGAAACCTGGCCTTCCT	0.373																																						dbGAP											0			19											86	95	92					19																	24288856		2203	4298	6501	24080696	SO:0001583	missense	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"Zinc fingers, C2H2-type", "-"	13047	protein-coding gene	gene with protein product		604768	"zinc finger protein 539"	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.145C>G	19.37:g.24288856C>G	ENSP00000349494:p.Leu49Val	108	3.57	4		10	35.29	6	24080696	30	37.5	18	A4QPC0|Q86XL7	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.L49V	ENST00000357002.4	37	c.145	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	C	13.90	2.375126	0.42105	.	.	ENSG00000213096	ENST00000357002;ENST00000392281;ENST00000339642	T;T	0.03358	3.96;3.96	0.225	0.225	0.15325	Krueppel-associated box (4);	.	.	.	.	T	0.14141	0.0342	M	0.80332	2.49	0.51233	D	0.999912	D	0.55172	0.97	D	0.63283	0.913	T	0.02126	-1.1209	8	0.87932	D	0	.	.	.	.	.	49	O75437	ZN254_HUMAN	V	49	ENSP00000349494:L49V;ENSP00000341573:L49V	ENSP00000341573:L49V	L	+	1	2	ZNF254	24080696	0.543000	0.26434	0.822000	0.32727	0.825000	0.46686	0.501000	0.22578	0.300000	0.22699	0.305000	0.20034	CTG	-	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352)		0.373	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	protein_coding	OTTHUMT00000466453.1	C	NM_004876		24080696	1	no_errors	NM_203282.2	genbank	human	validated	54_36p	missense	SNP	0.994	G	G	24288856	C	G	24288856	3	3	144	1	0	0	0	0	1	0	0	0	17795	680	24	4	151	4	ZNF254	19	24288856	Missense_Mutation	SNP	C	TCGA-AB-2955-03A-01W-0733-08		24288856	34840127	15	1612											
CEBPA	1050	genome.wustl.edu	37	19	33792404	33792405	+	In_Frame_Ins	INS	-	-	GCT			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	-	-	-	GCT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr19:33792404_33792405insGCT	ENST00000498907.2	-	1	1065_1066	c.916_917insAGC	c.(916-918)cgc>cAGCgc	p.305_306insQ	CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	305	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q305_R306insQ(3)|p.R306fs*48(3)|p.R306P(2)|p.H200_K352>Q(1)|p.R306>RRNVDKQ(1)|p.?(1)|p.V308_E309insDKQRNV(1)|p.R306>RALAPPR(1)|p.Q305_T310del(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CTCCACGTTGCGCTGCTTGGCC	0.639			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	14	Insertion - In frame(4)|Complex - deletion inframe(4)|Complex - insertion inframe(2)|Substitution - Missense(2)|Deletion - In frame(1)|Unknown(1)	haematopoietic_and_lymphoid_tissue(14)	19																																								38484245	SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.914_916dupAGC	19.37:g.33792408_33792410dupGCT	ENSP00000427514:p.Gln305_Gln305dup	31	8.82	3		58	29.27	24	38484244	3	50	3	A7LNP2|P78319|Q05CA4	In_Frame_Ins	INS	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.306in_frame_insQ	ENST00000498907.2	37	c.917_916	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.639	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	-	NM_004364		38484245	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	GCT	GCT	33792405	-	GCT	33792404	7	5	144	1	0	1	1	0	0	0	0	0	3199	768	27	0	163	0	CEBPA	19	33792404	In_Frame_Ins	INS	-	TCGA-AB-2955-03A-01W-0733-08	9503548	33792404	25336579	16	1613											
CEBPA	1050	genome.wustl.edu	37	19	33793184	33793184	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	-	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chr19:33793184delG	ENST00000498907.2	-	1	286	c.137delC	c.(136-138)cctfs	p.P46fs	CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA|CTD-2540B15.11_ENST00000589932.1_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	46					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P46fs*107(2)|p.A47fs*114(1)|p.Y7_G130del(1)|p.A47fs*112(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CGGGGCGGCAGGTGGGGCGGG	0.751			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	5	Deletion - Frameshift(3)|Deletion - In frame(1)|Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(5)	19											3	4	3					19																	33793184		933	1949	2882	38485024	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.137delC	19.37:g.33793184delG	ENSP00000427514:p.Pro46fs	0	0	0		14	37.5	9	38485024	0	0	0	A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.P46fs	ENST00000498907.2	37	c.137	CCDS54243.1	19																																																																																			-	NULL		0.751	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	G	NM_004364		38485024	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	33793184	G	-	33793184	7	5	144	1	0	1	0	1	0	0	0	0	3199	1000	35	0	943	0	CEBPA	19	33793184	Frame_Shift_Del	DEL	G	TCGA-AB-2955-03A-01W-0733-08	780	33793184	25335799	17	1614											
FAM47A	158724	genome.wustl.edu	37	X	34150174	34150174	+	Silent	SNP	G	G	A	rs373597275		TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chrX:34150174G>A	ENST00000346193.3	-	1	273	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	74								p.D74D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAAAAACTCGTCACGGCGAC	0.532																																						dbGAP											2	Substitution - coding silent(2)	lung(1)|kidney(1)	X											91	86	88					X																	34150174		2202	4300	6502	34060095	SO:0001819	synonymous_variant	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"similar to hypothetical protein FLJ35782"					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.222C>T	X.37:g.34150174G>A		146	10.43	17					34060095	40	46.05	35	A8K8I9|Q8TAA0	Silent	SNP	NULL	p.D74	ENST00000346193.3	37	c.222	CCDS43926.1	X																																																																																			-	NULL		0.532	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	G	NM_203408		34060095	-1	no_errors	NM_203408.2	genbank	human	predicted	54_36p	silent	SNP	0.004	A	A	34150174	G	A	34150174	2	1	144	1	0	0	0	0	0	0	0	1	5569	1136	40	1		1	FAM47A	23	34150174	Silent	SNP	G	TCGA-AB-2955-03A-01W-0733-08		34150174	121120386	18	1615											
KLHL4	56062	genome.wustl.edu	37	X	86773292	86773292	+	Silent	SNP	T	T	C			TCGA-AB-2955-03A-01W-0733-08	TCGA-AB-2955-11A-01W-0732-08	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e3241c5-adeb-4a0e-8e27-147ee63f32fd	c11cf123-f8e8-4777-b45f-d3498d8d38fa	g.chrX:86773292T>C	ENST00000373119.4	+	1	541	c.396T>C	c.(394-396)gaT>gaC	p.D132D	KLHL4_ENST00000373114.4_Silent_p.D132D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	132						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGATGGCTGATGACAATATAG	0.358																																						dbGAP											0			X											63	64	64					X																	86773292		2201	4297	6498	86659948	SO:0001819	synonymous_variant	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"Kelch-like", "BTB/POZ domain containing"	6355	protein-coding gene	gene with protein product		300348	"kelch (Drosophila)-like 4", "kelch-like 4 (Drosophila)"			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.396T>C	X.37:g.86773292T>C		112	7.44	9					86659948	18	58.14	25	B2RTW2|Q9Y3J5	Silent	SNP	HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB	p.D132	ENST00000373119.4	37	c.396	CCDS14457.1	X																																																																																			-	NULL		0.358	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	protein_coding	OTTHUMT00000057413.1	T			86659948	1	no_errors	NM_057162.4	genbank	human	reviewed	54_36p	silent	SNP	0.948	C	C	86773292	T	C	86773292	2	2	144	1	0	0	0	0	0	0	0	1	8391	1461	51	3		3	KLHL4	23	86773292	Silent	SNP	T	TCGA-AB-2955-03A-01W-0733-08	52623118	86773292	68497268	19	1616											
GABRA4	2557	genome.wustl.edu	37	4	46973214	46973214	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2956-03A-01W-0733-08	TCGA-AB-2956-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	601ce5dd-0025-45db-88ad-acb73e20cd1e	a860d16c-65e8-4ac4-8eeb-e6856544786c	g.chr4:46973214G>A	ENST00000264318.3	-	7	1742	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	254					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	CCCATCTTCCGTCTGAGGTGG	0.383																																					Ovarian(6;283 369 8234 12290 33402)	dbGAP											0			4											90	86	88					4																	46973214		2203	4300	6503	46667971	SO:0001583	missense	0				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4078	protein-coding gene	gene with protein product	"GABA(A) receptor, alpha 4"	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.760C>T	4.37:g.46973214G>A	ENSP00000264318:p.Arg254Trp	84	5.62	5					46667971	50	23.08	15	Q8IYR7	Missense_Mutation	SNP	HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL	p.R254W	ENST00000264318.3	37	c.760	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033137	0.75504	.	.	ENSG00000109158	ENST00000264318	D	0.96830	-4.14	5.42	3.54	0.40534	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98767	0.9585	H	0.98133	4.155	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.99204	1.0874	10	0.87932	D	0	.	13.5006	0.61452	0.0:0.0:0.6355:0.3645	.	254	P48169	GBRA4_HUMAN	W	254	ENSP00000264318:R254W	ENSP00000264318:R254W	R	-	1	2	GABRA4	46667971	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.676000	0.25247	1.503000	0.48686	0.650000	0.86243	CGG	-	HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD		0.383	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	protein_coding	OTTHUMT00000216893.1	G			46667971	-1	no_errors	NM_000809.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	46973214	G	A	46973214	3	1	145	1	0	0	0	0	1	0	0	0	6163	1144	40	1	916	1	GABRA4	4	46973214	Missense_Mutation	SNP	G	TCGA-AB-2956-03A-01W-0733-08		46973214	144181062	1	1617											
SNCAIP	9627	genome.wustl.edu	37	5	121786808	121786808	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2956-03A-01W-0733-08	TCGA-AB-2956-11A-01W-0732-08	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	601ce5dd-0025-45db-88ad-acb73e20cd1e	a860d16c-65e8-4ac4-8eeb-e6856544786c	g.chr5:121786808G>A	ENST00000261368.8	+	10	2528	c.2266G>A	c.(2266-2268)Gaa>Aaa	p.E756K	CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E803K|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000261367.7_Missense_Mutation_p.E803K|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E696K|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E314K|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E358K|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E390K	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	756					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGAGAGCAGCGAACCAGACTT	0.577																																						dbGAP											0			5											80	85	83					5																	121786808		2203	4300	6503	121814707	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"Ankyrin repeat domain containing"	11139	protein-coding gene	gene with protein product	"synphilin"	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.2266G>A	5.37:g.121786808G>A	ENSP00000261368:p.Glu756Lys	45	4.26	2					121814707	24	48.94	23	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK	p.E756K	ENST00000261368.8	37	c.2266	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315073	0.81358	.	.	ENSG00000064692	ENST00000542191;ENST00000509154;ENST00000261368;ENST00000379533;ENST00000379536;ENST00000379538;ENST00000261367;ENST00000414317	T;T;T;T;T;T;T;T	0.16073	4.2;4.74;2.43;2.37;4.74;4.67;2.37;4.47	6.06	6.06	0.98353	.	0.094066	0.64402	D	0.000001	T	0.33933	0.0880	L	0.29908	0.895	0.52099	D	0.999948	P;D;B;P;D;D;D;P	0.71674	0.944;0.973;0.097;0.954;0.967;0.975;0.998;0.923	B;B;B;B;P;B;D;B	0.73380	0.282;0.352;0.025;0.311;0.473;0.311;0.98;0.165	T	0.01951	-1.1241	10	0.72032	D	0.01	-20.528	20.6208	0.99490	0.0:0.0:1.0:0.0	.	696;384;358;696;390;390;803;756	D6R9G8;Q9NVG1;B7Z995;Q9Y6H5-4;Q9Y6H5-5;Q9Y6H5-2;Q9Y6H5-3;Q9Y6H5	.;.;.;.;.;.;.;SNCAP_HUMAN	K	314;696;756;803;696;390;803;358	ENSP00000441681:E314K;ENSP00000422106:E696K;ENSP00000261368:E756K;ENSP00000368848:E803K;ENSP00000368851:E696K;ENSP00000368854:E390K;ENSP00000261367:E803K;ENSP00000394392:E358K	ENSP00000261367:E803K	E	+	1	0	SNCAIP	121814707	1.000000	0.71417	0.344000	0.25628	0.859000	0.49053	9.025000	0.93694	2.882000	0.98803	0.655000	0.94253	GAA	-	NULL		0.577	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	protein_coding	OTTHUMT00000250888.1	G			121814707	1	no_errors	NM_005460.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	121786808	G	A	121786808	3	1	145	1	0	0	0	0	1	0	0	0	14841	1059	37	1	2300	1	SNCAIP	5	121786808	Missense_Mutation	SNP	G	TCGA-AB-2956-03A-01W-0733-08		121786808	59128452	2	1618											
MINPP1	9562	genome.wustl.edu	37	10	89268199	89268199	+	Silent	SNP	C	C	T	rs140998185		TCGA-AB-2956-03A-01W-0733-08	TCGA-AB-2956-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	601ce5dd-0025-45db-88ad-acb73e20cd1e	a860d16c-65e8-4ac4-8eeb-e6856544786c	g.chr10:89268199C>T	ENST00000371996.4	+	2	785	c.744C>T	c.(742-744)caC>caT	p.H248H	MINPP1_ENST00000536010.1_Silent_p.H47H|MINPP1_ENST00000371994.4_Silent_p.H248H	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	248					bone mineralization (GO:0030282)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|ossification (GO:0001503)|polyphosphate metabolic process (GO:0006797)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|bisphosphoglycerate 3-phosphatase activity (GO:0034417)|inositol hexakisphosphate 2-phosphatase activity (GO:0052826)|phosphohistidine phosphatase activity (GO:0008969)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CTCTTTATCACGTGGAAGCCT	0.338																																						dbGAP											0			10						T	,,	0,4406		0,0,2203	46	48	47		744,141,744	-1.5	1	10	dbSNP_134	47	3,8593	812.8+/-407.1	0,3,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	MINPP1	NM_001178117.1,NM_001178118.1,NM_004897.4	,,	0,3,6498	TT,TC,CC		0.0349,0.0,0.0231	,,	248/313,47/287,248/488	89268199	3,12999	2203	4298	6501	89258179	SO:0001819	synonymous_variant	0			AF046915	CCDS7384.1, CCDS53551.1, CCDS53552.1	10q23	2010-05-04	2010-05-04		ENSG00000107789	ENSG00000107789	3.1.3.62		7102	protein-coding gene	gene with protein product		605391	"multiple inositol polyphosphate histidine phosphatase, 1"			10087200	Standard	NM_004897		Approved	MIPP	uc001keu.3	Q9UNW1	OTTHUMG00000018678	ENST00000371996.4:c.744C>T	10.37:g.89268199C>T		70	6.67	5		9	57.14	12	89258179	27	18.18	6	F5H683|O95172|O95286|Q59EJ2|Q9UGA3	Silent	SNP	HMMPfam_Acid_phosphat_A,PatternScan_ER_TARGET,superfamily_Phosphoglycerate mutase-like	p.H248	ENST00000371996.4	37	c.744	CCDS7384.1	10																																																																																			-	HMMPfam_Acid_phosphat_A,superfamily_Phosphoglycerate mutase-like		0.338	MINPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MINPP1	protein_coding	OTTHUMT00000049221.1	C			89258179	1	no_errors	NM_004897.3	genbank	human	validated	54_36p	silent	SNP	0.978	T	T	89268199	C	T	89268199	2	4	145	1	0	0	0	0	0	0	0	1	9588	535	19	1		1	MINPP1	10	89268199	Silent	SNP	C	TCGA-AB-2956-03A-01W-0733-08		89268199	46266548	3	1619											
B4GALNT3	283358	genome.wustl.edu	37	12	662474	662474	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2956-03A-01W-0733-08	TCGA-AB-2956-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	601ce5dd-0025-45db-88ad-acb73e20cd1e	a860d16c-65e8-4ac4-8eeb-e6856544786c	g.chr12:662474C>T	ENST00000266383.5	+	14	1398	c.1385C>T	c.(1384-1386)aCc>aTc	p.T462I		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	462					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCTGCCTCCACCCTGGAGCAA	0.617																																						dbGAP											0			12											74	83	80					12																	662474		2203	4300	6503	532735	SO:0001583	missense	0			AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"Beta 4-glycosyltransferases"	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.1385C>T	12.37:g.662474C>T	ENSP00000266383:p.Thr462Ile	33	5.71	2		3	0	0	532735	4	60	6	Q6ZNC1|Q8N7T6	Missense_Mutation	SNP	HMMPfam_PA14,HMMSmart_SM00758,superfamily_Nucleotide-diphospho-sugar transferases	p.T462I	ENST00000266383.5	37	c.1385	CCDS8504.1	12	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432183	0.25813	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	T;T	0.32515	3.47;1.45	5.75	1.72	0.24424	.	1.042960	0.07406	N	0.891599	T	0.23249	0.0562	L	0.40543	1.245	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.08055	0.003;0.002	T	0.31833	-0.9929	10	0.18276	T	0.48	-6.5329	6.9587	0.24585	0.0:0.5602:0.2861:0.1537	.	365;462	E9PHD9;Q6L9W6	.;B4GN3_HUMAN	I	462;365	ENSP00000266383:T462I;ENSP00000322953:T365I	ENSP00000266383:T462I	T	+	2	0	B4GALNT3	532735	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.143000	0.10296	0.318000	0.23185	0.650000	0.86243	ACC	-	NULL		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT3	protein_coding	OTTHUMT00000251406.2	C	NM_173593		532735	1	no_errors	NM_173593.3	genbank	human	validated	54_36p	missense	SNP	0.003	T	T	662474	C	T	662474	3	4	145	1	0	0	0	0	1	0	0	0	1268	507	18	2	1439	2	B4GALNT3	12	662474	Missense_Mutation	SNP	C	TCGA-AB-2956-03A-01W-0733-08		662474	133189421	4	1620											
FAM194A	131831	genome.wustl.edu	37	3	150384671	150384671	+	Missense_Mutation	SNP	C	C	T	rs138919004		TCGA-AB-2957-03A-01W-0733-08	TCGA-AB-2957-11A-01W-0732-08	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	916a9b37-ed97-4a68-b9ce-4d9e2c419ccd	945dd1e2-500a-420f-8f6b-d46ce2ec67d3	g.chr3:150384671C>T	ENST00000295910.6	-	13	1683	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H	FAM194A_ENST00000491361.1_Missense_Mutation_p.R398H	NM_152394.3	NP_689607.2												p.R544H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCAATATAACGGTTCAAAGC	0.413													C|||	1	0.000199681	8e-04	0	5008	,	,		19279	0		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	autonomic_ganglia(1)	3						C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	127	124	125		1631	-1.1	0	3	dbSNP_134	125	0,8600		0,0,4300	no	missense	FAM194A	NM_152394.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	544/664	150384671	2,13004	2203	4300	6503	151867361	SO:0001583	missense	0																														ENST00000295910.6:c.1631G>A	3.37:g.150384671C>T	ENSP00000295910:p.Arg544His	51	5.36	3					151867361	64	41.82	46		Missense_Mutation	SNP	NULL	p.R544H	ENST00000295910.6	37	c.1631	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	C	10.04	1.240627	0.22711	4.54E-4	0.0	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.12255	2.7;2.7	5.41	-1.06	0.10002	.	0.894418	0.09712	N	0.765534	T	0.05823	0.0152	N	0.04724	-0.175	0.09310	N	0.999996	B	0.11235	0.004	B	0.04013	0.001	T	0.40720	-0.9548	10	0.31617	T	0.26	-2.3232	6.2243	0.20700	0.1305:0.4392:0.0:0.4303	.	544	Q7L0X2	F194A_HUMAN	H	544;398;502	ENSP00000295910:R544H;ENSP00000419366:R398H	ENSP00000295910:R544H	R	-	2	0	FAM194A	151867361	0.018000	0.18449	0.040000	0.18447	0.984000	0.73092	-0.039000	0.12124	-0.437000	0.07243	-0.302000	0.09304	CGT	-	NULL		0.413	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf44	protein_coding	OTTHUMT00000257666.1	C			151867361	-1	no_errors	NM_152394.3	genbank	human	validated	54_36p	missense	SNP	0.548	T	T	150384671	C	T	150384671	3	4	146	1	0	0	0	0	1	0	0	0	5526	536	19	1	368	1	FAM194A	3	150384671	Missense_Mutation	SNP	C	TCGA-AB-2957-03A-01W-0733-08		150384671	47637759	1	1621											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2957-03A-01W-0733-08	TCGA-AB-2957-11A-01W-0732-08	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	916a9b37-ed97-4a68-b9ce-4d9e2c419ccd	945dd1e2-500a-420f-8f6b-d46ce2ec67d3	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	75	15.73	14					27490642	29	45.28	24	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	146	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2957-03A-01W-0733-08		28592642	86577236	2	1622											
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	65	61		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	0					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	A	24432514	G	A	24432514	2	1	147	1	0	0	0	0	0	0	0	1	10093	1074	38	1		1	MYOM3	1	24432514	Silent	SNP	G	TCGA-AB-2959-03A-01W-0733-08		24432514	224818107	1	1623											
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	26	26					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	0		0	100	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	A	44461319	C	A	44461319	3	1	147	1	0	0	0	0	1	0	0	0	2799	710	25	4	621	4	CCDC24	1	44461319	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08	20028805	44461319	204789302	2	1624											
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	91	95		1111,1447	1.4	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					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	A	197390405	G	A	197390405	3	1	147	1	0	0	0	0	1	0	0	0	3848	1087	38	1	1469	1	CRB1	1	197390405	Missense_Mutation	SNP	G	TCGA-AB-2959-03A-01W-0733-08	152929086	197390405	51860216	3	1625											
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	81	78					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	0					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	A	1457469	C	A	1457469	3	1	147	1	0	0	0	0	1	0	0	0	16407	506	18	4	504	4	TPO	2	1457469	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08		1457469	241741904	4	1626											
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	110	108					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					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	T	21235398	C	T	21235398	3	4	147	1	0	0	0	0	1	0	0	0	785	565	20	2	9365	2	APOB	2	21235398	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08	19777929	21235398	221963975	5	1627											
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	178	179					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	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	T	170917884	C	T	170917884	2	4	147	1	0	0	0	0	0	0	0	1	16900	805	28	2		2	UBR3	2	170917884	Silent	SNP	C	TCGA-AB-2959-03A-01W-0733-08	149682486	170917884	72281489	6	1628											
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	72	73					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	0					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	T	72967959	C	T	72967959	3	4	147	1	0	0	0	0	1	0	0	0	13367	536	19	1	3131	1	RIMS1	6	72967959	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08		72967959	98147108	7	1629											
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	111	119					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	0		8	50	8	25192027	33	40	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	A	25136110	G	A	25136110	3	1	147	1	0	0	0	0	1	0	0	0	4690	1059	37	1	268	1	DOCK5	8	25136110	Missense_Mutation	SNP	G	TCGA-AB-2959-03A-01W-0733-08		25136110	121227912	8	1630											
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	40	39					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	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	T	70744772	C	T	70744772	3	4	147	1	0	0	0	0	1	0	0	0	14731	710	25	2	2445	2	SLCO5A1	8	70744772	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08	45608662	70744772	75619250	9	1631											
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	76	78					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					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	C	95791516	T	C	95791516	3	2	147	1	0	0	0	0	1	0	0	0	12034	1464	51	3	715	3	PLCE1	10	95791516	Missense_Mutation	SNP	T	TCGA-AB-2959-03A-01W-0733-08		95791516	39743231	10	1632											
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	135	142					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					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	T	115357815	G	T	115357815	3	4	147	1	0	0	0	0	1	0	0	0	10638	1252	44	4	975	4	NRAP	10	115357815	Missense_Mutation	SNP	G	TCGA-AB-2959-03A-01W-0733-08	19566299	115357815	20176932	11	1633											
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	5008	,	,		21376	0.001		0	False		,,,				2504	0					dbGAP											0			11						G	,	1,4401	2.1+/-5.4	0,1,2200	182	148	159		366,366	-4.7	1	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	0					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	A	9100947	G	A	9100947	2	1	147	1	0	0	0	0	0	0	0	1	13945	1136	40	1		1	SCUBE2	11	9100947	Silent	SNP	G	TCGA-AB-2959-03A-01W-0733-08		9100947	125905569	12	1634											
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	8e-04	0	5008	,	,		16599	0		0.001	False		,,,				2504	0					dbGAP											0			11											45	42	43					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					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	A	93090127	G	A	93090127	3	1	147	1	0	0	0	0	1	0	0	0	2839	1058	37	1	225	1	CCDC67	11	93090127	Missense_Mutation	SNP	G	TCGA-AB-2959-03A-01W-0733-08	83989180	93090127	41916389	13	1635											
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	70	72					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					48643666	4	50	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	C	50357399	T	C	50357399	3	2	147	1	0	0	0	0	1	0	0	0	829	1580	55	3	494	3	AQP5	12	50357399	Missense_Mutation	SNP	T	TCGA-AB-2959-03A-01W-0733-08		50357399	83494496	14	1636											
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	101	103					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					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	G	25670652	C	G	25670652	3	3	147	1	0	0	0	0	1	0	0	0	11365	912	32	4	318	4	PABPC3	13	25670652	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08		25670652	89499226	15	1637											
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	89	92					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					27778869	43	50	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	G	28880869	A	G	28880869	3	3	147	1	0	0	0	0	1	0	0	0	5941	217	8	3	263	3	FLT1	13	28880869	Missense_Mutation	SNP	A	TCGA-AB-2959-03A-01W-0733-08	3210217	28880869	86289009	16	1638											
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	106	106					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	G	33338670	A	G	33338670	3	3	147	1	0	0	0	0	1	0	0	0	11692	159	6	3	3680	3	PDS5B	13	33338670	Missense_Mutation	SNP	A	TCGA-AB-2959-03A-01W-0733-08	4457801	33338670	81831208	17	1639											
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	28	30					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	0					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	A	23586708	C	A	23586708	2	1	147	1	0	0	0	0	0	0	0	1	3202	610	22	4		4	CEBPE	14	23586708	Silent	SNP	C	TCGA-AB-2959-03A-01W-0733-08		23586708	83762832	18	1640											
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	93	93					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	0		16	15.79	3	24171052	17	50	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	A	25101212	G	A	25101212	3	1	147	1	0	0	0	0	1	0	0	0	6916	1203	42	2	299	2	GZMB	14	25101212	Missense_Mutation	SNP	G	TCGA-AB-2959-03A-01W-0733-08	1514504	25101212	82248328	19	1641											
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	73	74					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	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	C	40916592	G	C	40916592	3	2	147	1	0	0	0	0	1	0	0	0	2663	1174	41	4	4246	4	CASC5	15	40916592	Missense_Mutation	SNP	G	TCGA-AB-2959-03A-01W-0733-08		40916592	61614800	20	1642											
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	103	103					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	T	90631934	C	T	90631934	3	4	147	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08	49715342	90631934	11899458	21	1643											
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	75	75					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	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	A	56832421	C	A	56832421	3	1	147	1	0	0	0	0	1	0	0	0	10772	796	28	4	341	4	NUP93	16	56832421	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08		56832421	33522332	22	1644											
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	47	45		430	3.4	1	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	0					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	T	1840686	C	T	1840686	3	4	147	1	0	0	0	0	1	0	0	0	13731	536	19	1	899	1	RTN4RL1	17	1840686	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08		1840686	79354524	23	1645											
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	82	86					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	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	G	18297128	T	G	18297128	3	3	147	1	0	0	0	0	1	0	0	0	17720	1551	54	5	1640	5	ZNF133	20	18297128	Missense_Mutation	SNP	T	TCGA-AB-2959-03A-01W-0733-08		18297128	44728392	24	1646											
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	232	243					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	0		9	97.4	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	T	36231782	C	T	36231782	3	4	147	1	0	0	0	0	1	0	0	0	13746	884	31	1	889	1	RUNX1	21	36231782	Missense_Mutation	SNP	C	TCGA-AB-2959-03A-01W-0733-08		36231782	11898113	25	1647											
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	88	87					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	A	119387500	T	A	119387500	3	1	147	1	0	0	0	0	1	0	0	0	17533	1435	50	5	232	5	ZBTB33	23	119387500	Missense_Mutation	SNP	T	TCGA-AB-2959-03A-01W-0733-08		119387500	35883060	26	1648											
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	68	70					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	0		0	0	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	T	133547852	G	T	133547852	5	4	147	1	0	0	0	0	0	0	1	0	11838	956	33	4	610	4	PHF6	23	133547852	Splice_Site	SNP	G	TCGA-AB-2959-03A-01W-0733-08	14160352	133547852	21722708	27	1649											
EPHA8	2046	genome.wustl.edu	37	1	22915528	22915528	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr1:22915528G>A	ENST00000166244.3	+	5	1216	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	EPHA8_ENST00000374644.4_Missense_Mutation_p.G382S|EPHA8_ENST00000538803.1_Missense_Mutation_p.G382S	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	382	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.G382S(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATGTGGGAGCGGCACCCGCTT	0.677																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	1											26	22	23					1																	22915528		2202	4297	6499	22788115	SO:0001583	missense	0			BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"EPH receptors", "Sterile alpha motif (SAM) domain containing", "Fibronectin type III domain containing"	3391	protein-coding gene	gene with protein product		176945	"EphA8"	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1144G>A	1.37:g.22915528G>A	ENSP00000166244:p.Gly382Ser	1114	3.96	46					22788115	486	44.58	391	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	HMMPfam_Ephrin_lbd,HMMSmart_EPH_lbd,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,HMMPfam_SAM_1,HMMSmart_SAM,HMMPfam_fn3,HMMSmart_FN3,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Gal_bind_like,superfamily_SAM_homology,superfamily_Kinase_like,PatternScan_EGF_2,PatternScan_PROTEIN_KINASE_ATP	p.G382S	ENST00000166244.3	37	c.1144	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	3.505	-0.100995	0.06967	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.98849	1.66;-5.18;-5.18	4.1	0.234	0.15390	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.445566	0.21428	N	0.074705	D	0.94666	0.8280	L	0.31845	0.965	0.40109	D	0.976462	P;B	0.36944	0.574;0.147	B;B	0.31245	0.126;0.031	D	0.89823	0.3990	10	0.26408	T	0.33	.	8.7299	0.34491	0.3155:0.0:0.6845:0.0	.	382;382	P29322;P29322-2	EPHA8_HUMAN;.	S	382	ENSP00000166244:G382S;ENSP00000363775:G382S;ENSP00000440274:G382S	ENSP00000166244:G382S	G	+	1	0	EPHA8	22788115	0.013000	0.17824	0.086000	0.20670	0.061000	0.15899	0.137000	0.15995	0.054000	0.16065	-0.441000	0.05720	GGC	-	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like		0.677	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	G	NM_020526		22788115	1	no_errors	NM_020526.1	genbank	human	reviewed	54_36p	missense	SNP	0.859	A	A	22915528	G	A	22915528	3	1	148	1	0	0	0	0	1	0	0	0	5173	1116	39	1	1162	1	EPHA8	1	22915528	Missense_Mutation	SNP	G	TCGA-AB-2963-03A-01D-0739-09		22915528	226335093	1	1650											
FAM69A	388650	genome.wustl.edu	37	1	93309546	93309546	+	Silent	SNP	C	C	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr1:93309546C>T	ENST00000370310.4	-	5	751	c.681G>A	c.(679-681)gtG>gtA	p.V227V	SNORA51_ENST00000384295.1_RNA	NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	227						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V227V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		CACTTTCCATCACATAGAGGT	0.393																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											129	106	113					1																	93309546		692	1591	2283	93082134	SO:0001819	synonymous_variant	0			AK027146	CCDS44173.1, CCDS72822.1, CCDS72823.1, CCDS72824.1, CCDS72825.1	1p22	2014-06-25			ENSG00000154511	ENSG00000154511			32213	protein-coding gene	gene with protein product		614542				21334309	Standard	NM_001006605		Approved	FLJ23493	uc001dpg.3	Q5T7M9	OTTHUMG00000010894	ENST00000370310.4:c.681G>A	1.37:g.93309546C>T		664	2.21	15		3	25	1	93082134	694	43.14	528	Q6IRV2	Silent	SNP	NULL	p.V227	ENST00000370310.4	37	c.681	CCDS44173.1	1																																																																																			-	NULL		0.393	FAM69A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69A	protein_coding	OTTHUMT00000030046.2	C	NM_001006605		93082134	-1	no_errors	ENST00000370310	ensembl	human	known	54_36p	silent	SNP	1.000	T	T	93309546	C	T	93309546	2	4	148	1	0	0	0	0	0	0	0	1	5602	813	29	2		2	FAM69A	1	93309546	Silent	SNP	C	TCGA-AB-2963-03A-01D-0739-09	70394018	93309546	155941075	2	1651											
RAB17	64284	genome.wustl.edu	37	2	238485934	238485934	+	Missense_Mutation	SNP	G	G	A	rs201963999		TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr2:238485934G>A	ENST00000264601.3	-	4	1030	c.401C>T	c.(400-402)aCg>aTg	p.T134M	RAB17_ENST00000538644.1_Missense_Mutation_p.T7M|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Missense_Mutation_p.T7M	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	134					cilium assembly (GO:0042384)|endocytic recycling (GO:0032456)|establishment of melanosome localization (GO:0032401)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|melanosome transport (GO:0032402)|protein transport (GO:0015031)|regulation of dendrite development (GO:0050773)|regulation of filopodium assembly (GO:0051489)|regulation of synapse assembly (GO:0051963)|small GTPase mediated signal transduction (GO:0007264)|transcytosis (GO:0045056)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|melanosome (GO:0042470)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T134M(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GCTGAGGTCCGTCTTGTTGCC	0.612													G|||	1	0.000199681	0	0	5008	,	,		17743	0		0	False		,,,				2504	0.001				Colon(56;987 1029 6466 13943 27336)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2						G	MET/THR	0,4406		0,0,2203	92	76	81		401	2.8	1	2		81	1,8599	1.2+/-3.3	0,1,4299	yes	missense	RAB17	NM_022449.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	134/213	238485934	1,13005	2203	4300	6503	238150673	SO:0001583	missense	0			AK022600	CCDS2520.1	2q37.3	2008-05-23			ENSG00000124839	ENSG00000124839		"RAB, member RAS oncogene"	16523	protein-coding gene	gene with protein product		602206				9624171	Standard	NM_022449		Approved		uc002vwz.2	Q9H0T7	OTTHUMG00000133299	ENST00000264601.3:c.401C>T	2.37:g.238485934G>A	ENSP00000264601:p.Thr134Met	1061	3.01	33					238150673	295	46.47	257	Q53QV6|Q6IA73|Q6PJZ0|Q9BVU1|Q9H9U9	Missense_Mutation	SNP	HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540	p.T134M	ENST00000264601.3	37	c.401	CCDS2520.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.247367|2.247367	0.39697|0.39697	0.0|0.0	1.16E-4|1.16E-4	ENSG00000124839|ENSG00000124839	ENST00000430445|ENST00000264601;ENST00000538644;ENST00000409822;ENST00000411462	.|T;T;T;T	.|0.79749	.|-1.3;-1.3;-1.3;-1.3	4.61|4.61	2.78|2.78	0.32641|0.32641	.|Small GTP-binding protein domain (1);	.|0.264795	.|0.26582	.|N	.|0.023566	T|T	0.70596|0.70596	0.3242|0.3242	L|L	0.43152|0.43152	1.355|1.355	0.40956|0.40956	D|D	0.984585|0.984585	.|P	.|0.44627	.|0.839	.|B	.|0.39935	.|0.314	T|T	0.70777|0.70777	-0.4780|-0.4780	5|10	.|0.62326	.|D	.|0.03	-0.3521|-0.3521	7.5173|7.5173	0.27608|0.27608	0.2096:0.0:0.7904:0.0|0.2096:0.0:0.7904:0.0	.|.	.|134	.|Q9H0T7	.|RAB17_HUMAN	W|M	94|134;7;7;112	.|ENSP00000264601:T134M;ENSP00000443461:T7M;ENSP00000386589:T7M;ENSP00000400240:T112M	.|ENSP00000264601:T134M	R|T	-|-	1|2	2|0	RAB17|RAB17	238150673|238150673	0.997000|0.997000	0.39634|0.39634	0.987000|0.987000	0.45799|0.45799	0.760000|0.760000	0.43138|0.43138	2.449000|2.449000	0.44935|0.44935	0.934000|0.934000	0.37316|0.37316	-0.351000|-0.351000	0.07748|0.07748	CGG|ACG	-	HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540		0.612	RAB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB17	protein_coding	OTTHUMT00000257084.2	G			238150673	-1	no_errors	NM_022449.2	genbank	human	provisional	54_36p	missense	SNP	0.991	A	A	238485934	G	A	238485934	3	1	148	1	0	0	0	0	1	0	0	0	12902	1145	40	1	249	1	RAB17	2	238485934	Missense_Mutation	SNP	G	TCGA-AB-2963-03A-01D-0739-09		238485934	4713439	3	1652											
RFC1	5981	genome.wustl.edu	37	4	39308238	39308238	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr4:39308238T>C	ENST00000381897.1	-	14	2105	c.1972A>G	c.(1972-1974)Acc>Gcc	p.T658A	RFC1_ENST00000349703.2_Missense_Mutation_p.T657A	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	658					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.T657A(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGTGGTGGTTTTGCCAACA	0.493																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											81	73	76					4																	39308238		2203	4300	6503	38984633	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"ATPases / AAA-type"	9969	protein-coding gene	gene with protein product		102579	"replication factor C (activator 1) 1 (145kD)"			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1972A>G	4.37:g.39308238T>C	ENSP00000371321:p.Thr658Ala	1011	1.75	18		17	57.5	23	38984633	999	44.59	807	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	HMMPfam_BRCT,HMMSmart_BRCT,superfamily_BRCT,HMMSmart_AAA,HMMPfam_AAA,superfamily_Pol_clamp_load_C,HMMPfam_RFC1,superfamily_SSF52540	p.T657A	ENST00000381897.1	37	c.1969	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	T	31	5.066974	0.93898	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.55234	0.53;0.53	5.91	3.42	0.39159	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.107849	0.64402	D	0.000005	T	0.80401	0.4616	H	0.99498	4.595	0.80722	D	1	D;D	0.56746	0.977;0.966	P;P	0.60286	0.872;0.661	T	0.82697	-0.0329	10	0.87932	D	0	-7.8678	8.9341	0.35688	0.0:0.0655:0.1268:0.8077	.	658;657	P35251;P35251-2	RFC1_HUMAN;.	A	658;657	ENSP00000371321:T658A;ENSP00000261424:T657A	ENSP00000261424:T657A	T	-	1	0	RFC1	38984633	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.728000	0.84847	0.464000	0.27142	0.533000	0.62120	ACC	-	HMMSmart_AAA,HMMPfam_AAA,superfamily_SSF52540		0.493	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	protein_coding	OTTHUMT00000216808.1	T	NM_002913		38984633	-1	no_errors	NM_002913.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	39308238	T	C	39308238	3	2	148	1	0	0	0	0	1	0	0	0	13244	1725	60	3	1522	3	RFC1	4	39308238	Missense_Mutation	SNP	T	TCGA-AB-2963-03A-01D-0739-09		39308238	151846038	4	1653											
ETF1	2107	genome.wustl.edu	37	5	137853261	137853261	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr5:137853261A>C	ENST00000360541.5	-	4	612	c.391T>G	c.(391-393)Ttc>Gtc	p.F131V	ETF1_ENST00000503014.1_Missense_Mutation_p.F117V|ETF1_ENST00000499810.2_Missense_Mutation_p.F98V|ETF1_ENST00000514005.1_5'UTR	NM_004730.3	NP_004721.1	P62495	ERF1_HUMAN	eukaryotic translation termination factor 1	131					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation release factor activity (GO:0003747)|translation release factor activity, codon specific (GO:0016149)|translation termination factor activity (GO:0008079)	p.F131V(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCTGTATGGAATTTGTTGTCA	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											117	108	111					5																	137853261		2203	4300	6503	137881160	SO:0001583	missense	0			AF095901	CCDS4207.1, CCDS75313.1, CCDS75314.1	5q31.2	2008-02-05			ENSG00000120705	ENSG00000120705			3477	protein-coding gene	gene with protein product	"sup45 (yeast omnipotent suppressor 45) homolog-like 1", "polypeptide chain release factor 1"	600285		SUP45L1, ERF1, ERF		1546371, 7990965	Standard	NM_004730		Approved	eRF1, TB3-1, RF1	uc003ldc.5	P62495	OTTHUMG00000129199	ENST00000360541.5:c.391T>G	5.37:g.137853261A>C	ENSP00000353741:p.Phe131Val	225	2.99	7		22	61.4	35	137881160	143	43.97	113	B2R6B4|D3DQC1|P46055|Q5M7Z7|Q96CG1	Missense_Mutation	SNP	HMMPfam_eRF1_1,HMMPfam_eRF1_2,HMMPfam_eRF1_3,superfamily_Translational machinery components,superfamily_L30e-like,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1	p.F131V	ENST00000360541.5	37	c.391	CCDS4207.1	5	.	.	.	.	.	.	.	.	.	.	A	28.7	4.941057	0.92526	.	.	ENSG00000120705	ENST00000499810;ENST00000360541;ENST00000503014;ENST00000507939	.	.	.	5.39	5.39	0.77823	eRF1 domain 1/Pelota-like (1);Peptide Chain Release Factor eRF1/aRF1, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	D	0.94869	0.8028	9	0.87932	D	0	-5.0849	15.0652	0.71989	1.0:0.0:0.0:0.0	.	117;131	B7Z7P8;P62495	.;ERF1_HUMAN	V	98;131;117;98	.	ENSP00000353741:F131V	F	-	1	0	ETF1	137881160	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.292000	0.96076	2.043000	0.60533	0.533000	0.62120	TTC	-	HMMPfam_eRF1_1,superfamily_N-terminal domain of eukaryotic peptide chain release factor subunit 1 ERF1		0.403	ETF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETF1	protein_coding	OTTHUMT00000251276.2	A	NM_004730		137881160	-1	no_errors	NM_004730.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	137853261	A	C	137853261	3	2	148	1	0	0	0	0	1	0	0	0	5268	101	4	5	954	5	ETF1	5	137853261	Missense_Mutation	SNP	A	TCGA-AB-2963-03A-01D-0739-09		137853261	43061999	5	1654											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CCTG			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	-	-	-	CCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr5:170837547_170837548insCCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insCCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CCTG	CCTG	170837548	-	CCTG	170837547	7	5	148	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2963-03A-01D-0739-09	32984286	170837547	10077713	6	1655											
STC2	8614	genome.wustl.edu	37	5	172745087	172745087	+	Silent	SNP	C	C	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr5:172745087C>T	ENST00000265087.4	-	4	1981	c.672G>A	c.(670-672)gaG>gaA	p.E224E	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	224					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.E224E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGGCTGGCGCTCGGGGGGCG	0.652																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	5											43	48	46					5																	172745087		2203	4300	6503	172677693	SO:0001819	synonymous_variant	0			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.672G>A	5.37:g.172745087C>T		547	2.15	12					172677693	143	47.81	131		Silent	SNP	HMMPfam_Stanniocalcin	p.E224	ENST00000265087.4	37	c.672	CCDS4388.1	5																																																																																			-	HMMPfam_Stanniocalcin		0.652	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	protein_coding	OTTHUMT00000252965.1	C	NM_003714		172677693	-1	no_errors	NM_003714.2	genbank	human	reviewed	54_36p	silent	SNP	0.052	T	T	172745087	C	T	172745087	2	4	148	1	0	0	0	0	0	0	0	1	15275	796	28	2		2	STC2	5	172745087	Silent	SNP	C	TCGA-AB-2963-03A-01D-0739-09	1907540	172745087	8170173	7	1656											
EGFL8	80864	genome.wustl.edu	37	6	32135151	32135151	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr6:32135151G>A	ENST00000395512.1	+	7	731	c.626G>A	c.(625-627)cGc>cAc	p.R209H	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.R209H|AGPAT1_ENST00000490711.1_5'Flank			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	209						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R209H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AAAGATGAGCGCGCTCTGAAG	0.657																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											43	45	44					6																	32135151		1509	2708	4217	32243129	SO:0001583	missense	0			U89336	CCDS4743.1	6p21	2010-06-25	2003-05-21	2003-05-23	ENSG00000241404	ENSG00000241404			13944	protein-coding gene	gene with protein product		609897	"chromosome 6 open reading frame 8"	C6orf8			Standard	NM_030652		Approved	NG3		Q99944	OTTHUMG00000031222	ENST00000395512.1:c.626G>A	6.37:g.32135151G>A	ENSP00000378888:p.Arg209His	2115	2.17	47		2	50	2	32243129	552	49.5	542	B0S884|G5E9Q0|Q5JP23|Q5SSX3|Q8IV30	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_EMI,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.R209H	ENST00000395512.1	37	c.626	CCDS4743.1	6	.	.	.	.	.	.	.	.	.	.	G	2.897	-0.228296	0.06022	.	.	ENSG00000241404	ENST00000333845;ENST00000395512;ENST00000432129	D;D;T	0.88896	-2.44;-2.44;2.13	5.45	-3.04	0.05412	.	.	.	.	.	T	0.48786	0.1519	N	0.03209	-0.39	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47262	-0.9131	9	0.20046	T	0.44	-1.0581	6.2345	0.20756	0.5224:0.1305:0.3471:0.0	.	209	Q99944	EGFL8_HUMAN	H	209;209;189	ENSP00000333380:R209H;ENSP00000378888:R209H;ENSP00000401694:R189H	ENSP00000333380:R209H	R	+	2	0	EGFL8	32243129	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.075000	0.03423	-0.561000	0.06094	-0.339000	0.08088	CGC	-	NULL		0.657	EGFL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFL8	protein_coding	OTTHUMT00000076463.3	G	NM_030652		32243129	1	no_errors	NM_030652.2	genbank	human	validated	54_36p	missense	SNP	0.574	A	A	32135151	G	A	32135151	3	1	148	1	0	0	0	0	1	0	0	0	4965	1087	38	1	648	1	EGFL8	6	32135151	Missense_Mutation	SNP	G	TCGA-AB-2963-03A-01D-0739-09		32135151	138979916	8	1657											
TCTE3	6991	genome.wustl.edu	37	6	170143231	170143231	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr6:170143231C>T	ENST00000366774.3	-	3	531	c.431G>A	c.(430-432)cGt>cAt	p.R144H		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	144					transport (GO:0006810)	cytoplasm (GO:0005737)|dynein complex (GO:0030286)|membrane (GO:0016020)|microtubule (GO:0005874)	motor activity (GO:0003774)	p.R144H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		GAACTTATAACGGTGGTACCC	0.338																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											92	103	99					6																	170143231		2203	4298	6501	169885156	SO:0001583	missense	0			AF519569	CCDS5310.1	6q27	2014-06-03			ENSG00000184786	ENSG00000184786			11695	protein-coding gene	gene with protein product	"Tctex1 domain containing 3"	186977				1505969, 12584439	Standard	NM_174910		Approved	TCTEX1D3	uc003qxe.1	Q8IZS6	OTTHUMG00000016068	ENST00000366774.3:c.431G>A	6.37:g.170143231C>T	ENSP00000355736:p.Arg144His	179	2.19	4		2	0	0	169885156	258	44.21	206		Missense_Mutation	SNP	HMMPfam_Tctex-1	p.R144H	ENST00000366774.3	37	c.431	CCDS5310.1	6	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556328	0.86231	.	.	ENSG00000184786	ENST00000366774	T	0.33654	1.4	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.58018	0.2093	M	0.83483	2.645	0.51767	D	0.999931	D	0.89917	1.0	D	0.97110	1.0	T	0.63033	-0.6727	10	0.72032	D	0.01	-22.8692	16.3901	0.83532	0.0:1.0:0.0:0.0	.	144	Q8IZS6	TC1D3_HUMAN	H	144	ENSP00000355736:R144H	ENSP00000355736:R144H	R	-	2	0	TCTE3	169885156	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.223000	0.58587	2.679000	0.91253	0.655000	0.94253	CGT	-	HMMPfam_Tctex-1		0.338	TCTE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE3	protein_coding	OTTHUMT00000043243.1	C	NM_174910		169885156	-1	no_errors	NM_174910.1	genbank	human	provisional	54_36p	missense	SNP	0.993	T	T	170143231	C	T	170143231	3	4	148	1	0	0	0	0	1	0	0	0	15715	536	19	1	173	1	TCTE3	6	170143231	Missense_Mutation	SNP	C	TCGA-AB-2963-03A-01D-0739-09	138008080	170143231	971836	9	1658											
BMS1	9790	genome.wustl.edu	37	10	43289317	43289317	+	Silent	SNP	C	C	A			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr10:43289317C>A	ENST00000374518.5	+	9	1170	c.1107C>A	c.(1105-1107)acC>acA	p.T369T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	369					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.T369T(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGGGCCCACCCATGAGCTGG	0.507																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											114	113	113					10																	43289317		2203	4300	6503	42609323	SO:0001819	synonymous_variant	0			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"BMS1-like, ribosome assembly protein (yeast)", "BMS1 homolog, ribosome assembly protein (yeast)"	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1107C>A	10.37:g.43289317C>A		1194	5.74	73		19	45.71	16	42609323	772	47.63	703	Q5QPT5|Q86XJ9	Silent	SNP	HMMPfam_DUF663,HMMPfam_AARP2CN,HMMSmart_SM00785,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T369	ENST00000374518.5	37	c.1107	CCDS7199.1	10																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.507	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	protein_coding	OTTHUMT00000047690.2	C	NM_014753		42609323	1	no_errors	NM_014753.3	genbank	human	reviewed	54_36p	silent	SNP	0.980	A	A	43289317	C	A	43289317	2	1	148	1	0	0	0	0	0	0	0	1	1472	610	22	4		4	BMS1	10	43289317	Silent	SNP	C	TCGA-AB-2963-03A-01D-0739-09		43289317	92245430	10	1659											
UNC5B	219699	genome.wustl.edu	37	10	73053675	73053675	+	Silent	SNP	G	G	A	rs374874158		TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr10:73053675G>A	ENST00000335350.6	+	13	2576	c.2160G>A	c.(2158-2160)acG>acA	p.T720T	UNC5B_ENST00000373192.4_Silent_p.T709T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	720	Interaction with DCC. {ECO:0000250}.|UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.T720T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TGGAGGACACGCCTGTAGCAC	0.667																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10						G		0,4404		0,0,2202	19	18	18		2160	-7.5	0.2	10		18	1,8597		0,1,4298	no	coding-synonymous	UNC5B	NM_170744.4		0,1,6500	AA,AG,GG		0.0116,0.0,0.0077		720/946	73053675	1,13001	2202	4299	6501	72723681	SO:0001819	synonymous_variant	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2160G>A	10.37:g.73053675G>A		598	1.63	10		0	100	1	72723681	176	48.55	167	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin	p.T720	ENST00000335350.6	37	c.2160	CCDS7309.1	10																																																																																			-	NULL		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	G	NM_170744		72723681	1	no_errors	NM_170744.3	genbank	human	validated	54_36p	silent	SNP	0.564	A	A	73053675	G	A	73053675	2	1	148	1	0	0	0	0	0	0	0	1	16989	1074	38	1		1	UNC5B	10	73053675	Silent	SNP	G	TCGA-AB-2963-03A-01D-0739-09	29764358	73053675	62481072	11	1660											
PTPN11	5781	genome.wustl.edu	37	12	112926910	112926910	+	Missense_Mutation	SNP	G	G	C	rs397507550		TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr12:112926910G>C	ENST00000351677.2	+	13	1728	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	514	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		Q -> P (in LEOPARD1). {ECO:0000269|PubMed:14961557, ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:15690106}.|Q -> R (in NS1). {ECO:0000269|PubMed:15948193}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAAGCACAGTACCGATTTA	0.493			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	0			12											182	171	174					12																	112926910		2203	4300	6503	111411293	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1530G>C	12.37:g.112926910G>C	ENSP00000340944:p.Gln510His	538	1.82	10		38	7.32	3	111411293	830	16.33	162	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.Q510H	ENST00000351677.2	37	c.1530	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041522	0.75732	.	.	ENSG00000179295	ENST00000351677	D	0.99677	-6.37	5.13	2.29	0.28610	.	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99056	1.0829	10	0.87932	D	0	.	9.2895	0.37778	0.2656:0.0:0.7344:0.0	.	510	Q06124-2	.	H	510	ENSP00000340944:Q510H	ENSP00000340944:Q510H	Q	+	3	2	PTPN11	111411293	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.583000	0.53928	0.278000	0.22164	0.650000	0.86243	CAG	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II		0.493	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	G			111411293	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	112926910	G	C	112926910	3	2	148	1	0	0	0	0	1	0	0	0	12780	1020	36	4	1580	4	PTPN11	12	112926910	Missense_Mutation	SNP	G	TCGA-AB-2963-03A-01D-0739-09		112926910	20924985	12	1661											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	1451	0.27	4		324	19.15	77	27490642	887	13.8	142	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	148	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2963-03A-01D-0739-09		28592642	86577236	13	1662											
DAOA	267012	genome.wustl.edu	37	13	106142385	106142385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr13:106142385delC	ENST00000375936.3	+	4	463	c.417delC	c.(415-417)gacfs	p.D139fs	DAOA_ENST00000329625.5_Frame_Shift_Del_p.D68fs|DAOA-AS1_ENST00000448407.1_RNA	NM_001161812.1|NM_172370.3	NP_001155284.1|NP_758958.3	P59103	DAOA_HUMAN	D-amino acid oxidase activator	139					negative regulation of D-amino-acid oxidase activity (GO:1900758)|positive regulation of catalytic activity (GO:0043085)	Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)	p.Q140fs*8(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					agcaaaaagaccagtcatgca	0.468																																						dbGAP											1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	13											47	47	47					13																	106142385		1972	4170	6142	104940386	SO:0001589	frameshift_variant	0			AY138547	CCDS41905.1, CCDS53880.1, CCDS59242.1	13q33.2	2011-08-01			ENSG00000182346	ENSG00000182346			21191	protein-coding gene	gene with protein product	"G72 transcript"	607408				12364586, 15057823	Standard	NM_001161814		Approved	G72	uc010tjg.2	P59103	OTTHUMG00000041333	ENST00000375936.3:c.417delC	13.37:g.106142385delC	ENSP00000365103:p.Asp139fs	587	2.48	15		0	0	0	104940386	368	42.27	276	A6NKG7|Q0VAE6|Q5VX59|Q86Y17|Q8IWM4	Frame_Shift_Del	DEL	NULL	p.Q140fs	ENST00000375936.3	37	c.417	CCDS41905.1	13																																																																																			-	NULL		0.468	DAOA-005	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	DAOA	protein_coding	OTTHUMT00000099040.2	C	NM_172370		104940386	1	no_errors	NM_172370.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.000	-	-	106142385	C	-	106142385	7	5	148	1	0	1	0	1	0	0	0	0	4232	506	18	0	540	0	DAOA	13	106142385	Frame_Shift_Del	DEL	C	TCGA-AB-2963-03A-01D-0739-09	77549743	106142385	9027493	14	1663											
ZFHX3	463	genome.wustl.edu	37	16	72821134	72821134	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr16:72821134C>T	ENST00000268489.5	-	10	11713	c.11041G>A	c.(11041-11043)Ggt>Agt	p.G3681S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G2767S|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3681					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3681S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTTTGGGACCCTCCACCGGG	0.552																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16											147	158	154					16																	72821134		2198	4300	6498	71378635	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"Zinc fingers, C2H2-type", "Homeoboxes / ZF class"	777	protein-coding gene	gene with protein product		104155	"AT-binding transcription factor 1"	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.11041G>A	16.37:g.72821134C>T	ENSP00000268489:p.Gly3681Ser	1185	2.7	33		1	0	0	71378635	304	46.76	267	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,HMMSmart_SM00451,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Homeodomain-like,HMMSmart_SM00355,PatternScan_HOMEOBOX_1,superfamily_C2H2 and C2HC zinc fingers	p.G3681S	ENST00000268489.5	37	c.11041	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781300	0.49891	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.73363	-0.74;-0.74	5.25	5.25	0.73442	.	0.000000	0.51477	D	0.000100	T	0.56485	0.1988	N	0.08118	0	0.52099	D	0.999944	P	0.37061	0.58	B	0.35114	0.196	T	0.57476	-0.7805	10	0.18276	T	0.48	.	18.9036	0.92452	0.0:1.0:0.0:0.0	.	3681	Q15911	ZFHX3_HUMAN	S	3681;2767	ENSP00000268489:G3681S;ENSP00000438926:G2767S	ENSP00000268489:G3681S	G	-	1	0	ZFHX3	71378635	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.702000	0.84576	2.453000	0.82957	0.552000	0.68991	GGT	-	NULL		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	protein_coding	OTTHUMT00000269008.1	C	NM_006885		71378635	-1	no_errors	NM_006885.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	72821134	C	T	72821134	3	4	148	1	0	0	0	0	1	0	0	0	17631	623	22	2	74	2	ZFHX3	16	72821134	Missense_Mutation	SNP	C	TCGA-AB-2963-03A-01D-0739-09		72821134	17533619	15	1664											
BECN1	8678	genome.wustl.edu	37	17	40970380	40970380	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr17:40970380T>C	ENST00000361523.4	-	7	674	c.542A>G	c.(541-543)cAg>cGg	p.Q181R	BECN1_ENST00000590099.1_Missense_Mutation_p.Q181R|BECN1_ENST00000438274.3_Missense_Mutation_p.Q105R	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	181					autophagic vacuole assembly (GO:0000045)|beta-amyloid metabolic process (GO:0050435)|cellular defense response (GO:0006968)|cellular response to aluminum ion (GO:0071275)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokinesis (GO:0000910)|defense response to virus (GO:0051607)|lysosome organization (GO:0007040)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|neuron development (GO:0048666)|positive regulation of macroautophagy (GO:0016239)|regulation of catalytic activity (GO:0050790)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to vitamin E (GO:0033197)|viral process (GO:0016032)	dendrite (GO:0030425)|membrane (GO:0016020)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)		p.Q181R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TAGCTCCATCTGTAACTGTTC	0.478																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											231	220	224					17																	40970380		2203	4300	6503	38223906	SO:0001583	missense	0			AF077301	CCDS11441.1	17q21	2014-02-12	2008-01-14		ENSG00000126581	ENSG00000126581			1034	protein-coding gene	gene with protein product	"ATG6 autophagy related 6 homolog (S. cerevisiae)"	604378	"beclin 1 (coiled-coil, moesin-like BCL2 interacting protein)"			9765397	Standard	NM_003766		Approved	ATG6, VPS30	uc002ibn.2	Q14457		ENST00000361523.4:c.542A>G	17.37:g.40970380T>C	ENSP00000355231:p.Gln181Arg	1400	2.51	36		38	50	38	38223906	330	45.5	278	B2R6N7|O75595|Q9UNA8	Missense_Mutation	SNP	HMMPfam_APG6	p.Q181R	ENST00000361523.4	37	c.542	CCDS11441.1	17	.	.	.	.	.	.	.	.	.	.	T	9.553	1.116423	0.20795	.	.	ENSG00000126581	ENST00000361523;ENST00000438274;ENST00000543382	T;T	0.42131	0.98;0.98	6.03	4.96	0.65561	.	0.302959	0.37577	N	0.002038	T	0.31327	0.0793	N	0.21373	0.66	0.20563	N	0.999883	B;B	0.34372	0.451;0.17	B;B	0.38106	0.265;0.079	T	0.16100	-1.0414	10	0.22706	T	0.39	.	12.1211	0.53891	0.0:0.0665:0.0:0.9335	.	105;181	E7EV84;Q14457	.;BECN1_HUMAN	R	181;105;94	ENSP00000355231:Q181R;ENSP00000416173:Q105R	ENSP00000355231:Q181R	Q	-	2	0	BECN1	38223906	0.999000	0.42202	0.713000	0.30519	0.870000	0.49936	3.897000	0.56273	1.101000	0.41535	0.533000	0.62120	CAG	-	HMMPfam_APG6		0.478	BECN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BECN1	protein_coding	OTTHUMT00000452405.1	T	NM_003766		38223906	-1	no_errors	NM_003766.3	genbank	human	validated	54_36p	missense	SNP	0.968	C	C	40970380	T	C	40970380	3	2	148	1	0	0	0	0	1	0	0	0	1396	1580	55	3	834	3	BECN1	17	40970380	Missense_Mutation	SNP	T	TCGA-AB-2963-03A-01D-0739-09		40970380	40224830	16	1665											
NLRP8	126205	genome.wustl.edu	37	19	56466946	56466946	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chr19:56466946G>C	ENST00000291971.3	+	3	1593	c.1522G>C	c.(1522-1524)Gtg>Ctg	p.V508L	NLRP8_ENST00000590542.1_Missense_Mutation_p.V508L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	508	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V508L(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTACCCTCGTGACTTTTCA	0.463																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											204	194	197					19																	56466946		2203	4300	6503	61158758	SO:0001583	missense	0			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"Nucleotide-binding domain and leucine rich repeat containing"	22940	protein-coding gene	gene with protein product	"nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"	609659	"NACHT, leucine rich repeat and PYD containing 8"	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1522G>C	19.37:g.56466946G>C	ENSP00000291971:p.Val508Leu	559	1.92	11					61158758	379	46.56	332	Q7RTR4	Missense_Mutation	SNP	HMMSmart_SM00368,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH domain,superfamily_RNI-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V508L	ENST00000291971.3	37	c.1522	CCDS12937.1	19	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.156840	0.00028	.	.	ENSG00000179709	ENST00000291971	T	0.74315	-0.83	2.0	-4.01	0.04045	.	.	.	.	.	T	0.29914	0.0748	N	0.00507	-1.42	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.05903	-1.0857	9	0.02654	T	1	.	3.219	0.06708	0.1308:0.4377:0.268:0.1635	.	508;508	Q86W28-2;Q86W28	.;NALP8_HUMAN	L	508	ENSP00000291971:V508L	ENSP00000291971:V508L	V	+	1	0	NLRP8	61158758	0.001000	0.12720	0.000000	0.03702	0.042000	0.13812	-0.682000	0.05185	-3.681000	0.00122	-1.537000	0.00914	GTG	-	NULL		0.463	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP8	protein_coding	OTTHUMT00000457462.1	G	NM_176811		61158758	1	no_errors	NM_176811.2	genbank	human	provisional	54_36p	missense	SNP	0.003	C	C	56466946	G	C	56466946	3	2	148	1	0	0	0	0	1	0	0	0	10483	1145	40	4	1532	4	NLRP8	19	56466946	Missense_Mutation	SNP	G	TCGA-AB-2963-03A-01D-0739-09		56466946	2662037	17	1666											
SMC1A	8243	genome.wustl.edu	37	X	53426617	53426617	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2963-03A-01D-0739-09	TCGA-AB-2963-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8876f6ab-618d-4096-9e98-4f2063ef03b1	21a5533c-8f5d-4047-8daa-0ad9d86ea2e3	g.chrX:53426617A>T	ENST00000322213.4	-	16	2583	c.2456T>A	c.(2455-2457)aTt>aAt	p.I819N		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	819					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.I819N(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATCCAACTGAATGCCCAAGCG	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											128	105	113					X																	53426617		2203	4300	6503	53443342	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"Structural maintenance of chromosomes proteins"	11111	protein-coding gene	gene with protein product		300040	"SMC1 (structural maintenance of chromosomes 1, yeast)-like 1", "SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2456T>A	X.37:g.53426617A>T	ENSP00000323421:p.Ile819Asn	508	0.78	4		71	61.62	114	53443342	292	54.73	353	O14995|Q16351|Q2M228	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_SMC_hinge,superfamily_SSF52540	p.I819N	ENST00000322213.4	37	c.2456	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	A	15.17	2.754489	0.49362	.	.	ENSG00000072501	ENST00000322213	T	0.75704	-0.96	4.9	4.9	0.64082	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.32793	0.0841	N	0.00075	-2.25	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.46303	-0.9201	10	0.09590	T	0.72	.	12.863	0.57924	1.0:0.0:0.0:0.0	.	797;819	Q6MZR8;Q14683	.;SMC1A_HUMAN	N	819	ENSP00000323421:I819N	ENSP00000323421:I819N	I	-	2	0	SMC1A	53443342	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.045000	0.93812	1.745000	0.51790	0.486000	0.48141	ATT	-	HMMPfam_SMC_N,superfamily_SSF52540		0.403	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	protein_coding	OTTHUMT00000056756.2	A	NM_006306		53443342	-1	no_errors	NM_006306.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	53426617	A	T	53426617	3	4	148	1	0	0	0	0	1	0	0	0	14781	101	4	5	1285	5	SMC1A	23	53426617	Missense_Mutation	SNP	A	TCGA-AB-2963-03A-01D-0739-09		53426617	101843943	18	1667											
CAMTA1	23261	genome.wustl.edu	37	1	7721815	7721815	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr1:7721815G>A	ENST00000303635.7	+	8	901	c.694G>A	c.(694-696)Ggg>Agg	p.G232R	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G232R	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G232R(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGCAGCAATGGGAACAGCAG	0.642			T	WWTR1	epitheliod hemangioendothelioma																																	dbGAP		Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											74	69	70					1																	7721815		2203	4300	6503	7644402	SO:0001583	missense	0			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.694G>A	1.37:g.7721815G>A	ENSP00000306522:p.Gly232Arg	151	0	0					7644402	83	34.13	43	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	HMMPfam_IQ,HMMPfam_Ank,superfamily_Ankyrin repeat,HMMPfam_TIG,HMMPfam_CG-1,superfamily_E set domains,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G232R	ENST00000303635.7	37	c.694	CCDS30576.1	1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.738696	0.89573	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	T;T	0.20881	2.04;2.04	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	N	0.24115	0.695	0.80722	D	1	B	0.30439	0.279	B	0.33254	0.16	T	0.06789	-1.0807	10	0.30078	T	0.28	-20.2726	17.8642	0.88791	0.0:0.0:1.0:0.0	.	232	Q9Y6Y1	CMTA1_HUMAN	R	232	ENSP00000306522:G232R;ENSP00000402561:G232R	ENSP00000306522:G232R	G	+	1	0	CAMTA1	7644402	1.000000	0.71417	0.970000	0.41538	0.986000	0.74619	7.822000	0.86651	2.305000	0.77605	0.543000	0.68304	GGG	-	NULL		0.642	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA1	protein_coding	OTTHUMT00000003588.3	G	NM_015215		7644402	1	no_errors	NM_015215.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	7721815	G	A	7721815	3	1	149	1	0	0	0	0	1	0	0	0	2613	1348	47	2	724	2	CAMTA1	1	7721815	Missense_Mutation	SNP	G	TCGA-AB-2964-03A-01D-0739-09		7721815	241528806	1	1668											
AHCYL1	10768	genome.wustl.edu	37	1	110561263	110561263	+	Silent	SNP	C	C	T			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr1:110561263C>T	ENST00000369799.5	+	13	1675	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L	AHCYL1_ENST00000359172.3_Silent_p.L389L|AHCYL1_ENST00000393614.4_Silent_p.L389L	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	436	NAD binding. {ECO:0000250}.				mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)	p.L436L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		GAGTTGTCCTCCTGGCAGAGG	0.552																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											53	38	43					1																	110561263		2203	4300	6503	110362786	SO:0001819	synonymous_variant	0			U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"inositol 1,4,5-trisphosphate receptor-binding protein", "protein phosphatase 1, regulatory subunit 78"	607826	"S-adenosylhomocysteine hydrolase-like 1"			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.1308C>T	1.37:g.110561263C>T		430	0.46	2		51	48.48	48	110362786	403	41.85	290	B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Silent	SNP	HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,PatternScan_ADOHCYASE_1,PatternScan_ADOHCYASE_2,superfamily_Formate/glycerate dehydrogenase catalytic domain-like	p.L436	ENST00000369799.5	37	c.1308	CCDS818.1	1																																																																																			-	HMMPfam_AdoHcyase,HMMPfam_AdoHcyase_NAD,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Formate/glycerate dehydrogenase catalytic domain-like		0.552	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHCYL1	protein_coding	OTTHUMT00000032243.1	C			110362786	1	no_errors	NM_006621.4	genbank	human	validated	54_36p	silent	SNP	0.942	T	T	110561263	C	T	110561263	2	4	149	1	0	0	0	0	0	0	0	1	410	842	30	2		2	AHCYL1	1	110561263	Silent	SNP	C	TCGA-AB-2964-03A-01D-0739-09	102839448	110561263	138689358	2	1669											
CACNA1E	777	genome.wustl.edu	37	1	181689358	181689358	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr1:181689358C>T	ENST00000367573.2	+	14	1768	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R541W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R590W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R590W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R541W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R197W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R590W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	590					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R590W(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCTTCCCTACGGAATTTGGT	0.478																																						dbGAP											2	Substitution - Missense(2)	NS(1)|haematopoietic_and_lymphoid_tissue(1)	1											230	214	219					1																	181689358		2006	4164	6170	179955981	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.1768C>T	1.37:g.181689358C>T	ENSP00000356545:p.Arg590Trp	589	0.34	2					179955981	334	41.33	236	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.R590W	ENST00000367573.2	37	c.1768	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.995927	0.74703	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98914	-5.23;-5.23;-5.23;-5.23;-5.23;-5.23;-5.23	5.15	5.15	0.70609	.	0.097627	0.64402	D	0.000002	D	0.99453	0.9806	H	0.97852	4.09	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98237	1.0486	10	0.87932	D	0	.	13.2677	0.60144	0.2005:0.7994:0.0:0.0	.	590;590	Q15878-2;Q15878-3	.;.	W	590;590;541;541;197;590;590	ENSP00000356542:R590W;ENSP00000434814:R590W;ENSP00000350183:R541W;ENSP00000351101:R541W;ENSP00000356539:R197W;ENSP00000353222:R590W;ENSP00000356545:R590W	ENSP00000350183:R541W	R	+	1	2	CACNA1E	179955981	0.988000	0.35896	0.953000	0.39169	0.962000	0.63368	2.256000	0.43231	2.391000	0.81399	0.563000	0.77884	CGG	-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	C	NM_000721		179955981	1	no_errors	NM_000721.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	181689358	C	T	181689358	3	4	149	1	0	0	0	0	1	0	0	0	2542	527	19	1	1822	1	CACNA1E	1	181689358	Missense_Mutation	SNP	C	TCGA-AB-2964-03A-01D-0739-09	71128095	181689358	67561263	3	1670											
OR5K3	403277	genome.wustl.edu	37	3	98110321	98110321	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr3:98110321C>G	ENST00000383695.1	+	1	812	c.812C>G	c.(811-813)cCt>cGt	p.P271R	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P271R(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						AAAGATATACCTGTTGCTATA	0.303																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											90	87	88					3																	98110321		2203	4300	6503	99593011	SO:0001583	missense	0				CCDS33803.1	3q11.2	2013-09-23			ENSG00000206536	ENSG00000206536		"GPCR / Class A : Olfactory receptors"	31290	protein-coding gene	gene with protein product							Standard	NM_001005516		Approved		uc011bgw.2	A6NET4	OTTHUMG00000160077	ENST00000383695.1:c.812C>G	3.37:g.98110321C>G	ENSP00000373194:p.Pro271Arg	559	0.36	2					99593011	381	47.24	342		Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.P271R	ENST00000383695.1	37	c.812	CCDS33803.1	3	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536144	0.27475	.	.	ENSG00000206536	ENST00000383695	T	0.00084	8.75	5.15	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.580379	0.14322	N	0.326933	T	0.00144	0.0004	L	0.27053	0.805	0.09310	N	1	P	0.48294	0.908	P	0.48488	0.579	T	0.58381	-0.7646	10	0.66056	D	0.02	-6.9004	7.2149	0.25955	0.0:0.8135:0.0:0.1865	.	271	A6NET4	OR5K3_HUMAN	R	271	ENSP00000373194:P271R	ENSP00000373194:P271R	P	+	2	0	OR5K3	99593011	0.000000	0.05858	0.172000	0.22920	0.403000	0.30841	0.459000	0.21908	2.527000	0.85204	0.603000	0.83216	CCT	-	HMMPfam_7tm_1,superfamily_SSF81321		0.303	OR5K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K3	protein_coding	OTTHUMT00000359110.1	C			99593011	1	no_errors	NM_001005516.1	genbank	human	provisional	54_36p	missense	SNP	0.000	G	G	98110321	C	G	98110321	3	3	149	1	0	0	0	0	1	0	0	0	11168	681	24	4	814	4	OR5K3	3	98110321	Missense_Mutation	SNP	C	TCGA-AB-2964-03A-01D-0739-09		98110321	99912109	4	1671											
TACR3	6870	genome.wustl.edu	37	4	104510899	104510899	+	Silent	SNP	A	A	G			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr4:104510899A>G	ENST00000304883.2	-	5	1478	c.1338T>C	c.(1336-1338)tcT>tcC	p.S446S	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	446					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)	p.S446S(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGGCGGAGGCAGATTTGGAAT	0.463																																						dbGAP											2	Substitution - coding silent(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	4											139	134	136					4																	104510899		2203	4300	6503	104730348	SO:0001819	synonymous_variant	0			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"GPCR / Class A : Tachykinin receptors"	11528	protein-coding gene	gene with protein product	"neurokinin beta receptor"	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1338T>C	4.37:g.104510899A>G		489	0.41	2					104730348	996	40.08	667	Q0P510	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.S446	ENST00000304883.2	37	c.1338	CCDS3664.1	4																																																																																			-	NULL		0.463	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR3	protein_coding	OTTHUMT00000253804.1	A	NM_001059		104730348	-1	no_errors	NM_001059.1	genbank	human	reviewed	54_36p	silent	SNP	0.958	G	G	104510899	A	G	104510899	2	3	149	1	0	0	0	0	0	0	0	1	15504	175	7	3		3	TACR3	4	104510899	Silent	SNP	A	TCGA-AB-2964-03A-01D-0739-09		104510899	86643377	5	1672											
TET2	54790	genome.wustl.edu	37	4	106157845	106157845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr4:106157845C>T	ENST00000540549.1	+	3	3606	c.2746C>T	c.(2746-2748)Cag>Tag	p.Q916*	TET2_ENST00000413648.2_Nonsense_Mutation_p.Q916*|TET2_ENST00000545826.1_Nonsense_Mutation_p.Q916*|TET2_ENST00000305737.2_Nonsense_Mutation_p.Q916*|TET2_ENST00000394764.1_Nonsense_Mutation_p.Q916*|TET2_ENST00000380013.4_Nonsense_Mutation_p.Q916*|TET2_ENST00000513237.1_Nonsense_Mutation_p.Q937*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	916	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.Q916*(11)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCAACTTGCTCAGCAAAGGTA	0.448			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	11	Substitution - Nonsense(11)	haematopoietic_and_lymphoid_tissue(11)	4											58	52	54					4																	106157845		2203	4300	6503	106377294	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2746C>T	4.37:g.106157845C>T	ENSP00000442788:p.Gln916*	675	0	0		19	44.12	15	106377294	688	41.69	492	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.Q916*	ENST00000540549.1	37	c.2746	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	41	8.983090	0.99025	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.79	4.93	0.64822	.	0.214749	0.23461	U	0.047921	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	14.9595	0.71144	0.0:0.8577:0.1423:0.0	.	.	.	.	X	916;916;916;937;916;916;916	.	ENSP00000265149:Q916X	Q	+	1	0	TET2	106377294	.	.	0.794000	0.32065	0.687000	0.40016	.	.	1.396000	0.46663	0.655000	0.94253	CAG	-	NULL		0.448	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106377294	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	nonsense	SNP	0.006	T	T	106157845	C	T	106157845	4	4	149	1	0	0	0	0	0	1	0	0	15767	827	29	2	2748	2	TET2	4	106157845	Nonsense_Mutation	SNP	C	TCGA-AB-2964-03A-01D-0739-09	1646946	106157845	84996431	6	1673											
TET2	54790	genome.wustl.edu	37	4	106197333	106197333	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr4:106197333C>T	ENST00000540549.1	+	11	6526	c.5666C>T	c.(5665-5667)cCc>cTc	p.P1889L	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Missense_Mutation_p.P1889L|TET2_ENST00000513237.1_Missense_Mutation_p.P1910L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1889					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.P1889L(1)|p.P1889R(1)|p.P1889_N1890del(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTAAAGAATCCCAATAGGAAT	0.502			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	3	Substitution - Missense(2)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(3)	4											61	53	55					4																	106197333		692	1591	2283	106416782	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5666C>T	4.37:g.106197333C>T	ENSP00000442788:p.Pro1889Leu	317	1.86	6		17	39.29	11	106416782	781	43.5	602	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.P691L	ENST00000540549.1	37	c.2072	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573664	0.65765	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.13778	2.56;2.56;2.56	5.52	4.67	0.58626	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.41328	0.1154	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.964;1.0	T	0.47302	-0.9128	9	0.87932	D	0	-12.9803	16.4604	0.84033	0.0:0.8688:0.1312:0.0	.	1910;1889	E7EQS8;Q6N021	.;TET2_HUMAN	L	1889;1910;1889	ENSP00000442788:P1889L;ENSP00000425443:P1910L;ENSP00000369351:P1889L	ENSP00000369351:P1889L	P	+	2	0	TET2	106416782	1.000000	0.71417	0.089000	0.20774	0.618000	0.37518	7.284000	0.78650	1.305000	0.44909	0.655000	0.94253	CCC	-	NULL		0.502	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106416782	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	106197333	C	T	106197333	3	4	149	1	0	0	0	0	1	0	0	0	15767	623	22	2	5789	2	TET2	4	106197333	Missense_Mutation	SNP	C	TCGA-AB-2964-03A-01D-0739-09	39488	106197333	84956943	7	1674											
STC2	8614	genome.wustl.edu	37	5	172744952	172744952	+	Silent	SNP	G	G	A			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr5:172744952G>A	ENST00000265087.4	-	4	2116	c.807C>T	c.(805-807)aaC>aaT	p.N269N	STC2_ENST00000520593.1_5'Flank	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	269					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.N269N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGGCATGGGCGTTTGGGTGGC	0.637																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	5											78	80	79					5																	172744952		2203	4300	6503	172677558	SO:0001819	synonymous_variant	0			AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.807C>T	5.37:g.172744952G>A		290	1.02	3					172677558	55	44.44	44		Silent	SNP	HMMPfam_Stanniocalcin	p.N269	ENST00000265087.4	37	c.807	CCDS4388.1	5																																																																																			-	HMMPfam_Stanniocalcin		0.637	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC2	protein_coding	OTTHUMT00000252965.1	G	NM_003714		172677558	-1	no_errors	NM_003714.2	genbank	human	reviewed	54_36p	silent	SNP	0.153	A	A	172744952	G	A	172744952	2	1	149	1	0	0	0	0	0	0	0	1	15275	1136	40	1		1	STC2	5	172744952	Silent	SNP	G	TCGA-AB-2964-03A-01D-0739-09		172744952	8170308	8	1675											
ELN	2006	genome.wustl.edu	37	7	73452038	73452038	+	Splice_Site	SNP	G	G	A	rs376512299		TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr7:73452038G>A	ENST00000252034.7	+	4	564	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ELN_ENST00000380553.4_Splice_Site_p.A55A|ELN_ENST00000320492.7_Splice_Site_p.A55A|ELN_ENST00000380575.4_Splice_Site_p.A45A|ELN_ENST00000380562.4_Splice_Site_p.A55A|ELN_ENST00000380576.5_Splice_Site_p.A55A|ELN_ENST00000320399.6_Splice_Site_p.A55A|ELN_ENST00000458204.1_Splice_Site_p.A45A|ELN_ENST00000357036.5_Splice_Site_p.A55A|ELN_ENST00000380584.4_Splice_Site_p.A55A|ELN_ENST00000429192.1_Splice_Site_p.A55A|ELN_ENST00000414324.1_Splice_Site_p.A45A|ELN_ENST00000445912.1_Splice_Site_p.A55A|ELN_ENST00000358929.4_Splice_Site_p.A55A	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	55					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.A55A(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				CCTCTGCAGCGCTGGGGCCTG	0.587			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"																															dbGAP		Dom	yes		7	7q11.23	2006	elastin	yes	L	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	7						A	,,,,	3,4403	6.2+/-15.9	0,3,2200	86	63	71		165,135,165,165,165	-10.3	0	7		71	0,8600		0,0,4300	no	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice	ELN	NM_000501.2,NM_001081752.1,NM_001081753.1,NM_001081754.1,NM_001081755.1	,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,	55/725,45/678,55/693,55/712,55/706	73452038	3,13003	2203	4300	6503	73089974	SO:0001630	splice_region_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome"	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.164-1G>A	7.37:g.73452038G>A		226	0	0					73089974	64	30.43	28	B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Silent	SNP	PatternScan_ENDONUCLEASE_III_2,PatternScan_HEXAPEP_TRANSFERASES	p.A55	ENST00000252034.7	37	c.165	CCDS5562.2	7																																																																																			-	NULL		0.587	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ELN	protein_coding	OTTHUMT00000316913.1	G	NM_000501	Silent	73089974	1	no_errors	NM_000501.2	genbank	human	reviewed	54_36p	silent	SNP	0.285	A	A	73452038	G	A	73452038	5	1	149	1	0	0	0	0	0	0	1	0	5071	1101	38	1	179	1	ELN	7	73452038	Splice_Site	SNP	G	TCGA-AB-2964-03A-01D-0739-09		73452038	85686625	9	1676											
MUC5B	727897	genome.wustl.edu	37	11	1271786	1271786	+	Missense_Mutation	SNP	T	T	C	rs397834801		TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr11:1271786T>C	ENST00000529681.1	+	31	13734	c.13676T>C	c.(13675-13677)gTc>gCc	p.V4559A	MUC5B_ENST00000447027.1_Missense_Mutation_p.V4562A|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4559	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGAGACTGTCCACACCTCC	0.657																																						dbGAP											0			11											96	127	117					11																	1271786		2043	4180	6223	1228362	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13676T>C	11.37:g.1271786T>C	ENSP00000436812:p.Val4559Ala	5	28.57	2					1228362	4	20	1	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL	p.V4562A	ENST00000529681.1	37	c.13685	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	5.028	0.190883	0.09547	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.20332	2.08;2.27	1.66	-1.02	0.10135	.	.	.	.	.	T	0.08313	0.0207	N	0.04090	-0.28	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27606	-1.0069	9	0.87932	D	0	.	3.2077	0.06671	0.0:0.435:0.2234:0.3416	.	5032;4562	A7Y9J9;E9PBJ0	.;.	A	4559;4562;4503;4409;336	ENSP00000436812:V4559A;ENSP00000415793:V4562A	ENSP00000343037:V4503A	V	+	2	0	MUC5B	1228362	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	0.374000	0.20501	-1.141000	0.02873	-1.160000	0.01791	GTC	-	NULL		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	T	XM_001126093		1228362	1	no_errors	NM_002458.1	genbank	human	validated	54_36p	missense	SNP	0.000	C	C	1271786	T	C	1271786	3	2	149	1	0	0	0	0	1	0	0	0	9979	1667	58	3	13807	3	MUC5B	11	1271786	Missense_Mutation	SNP	T	TCGA-AB-2964-03A-01D-0739-09		1271786	133734730	10	1677											
OR6A2	8590	genome.wustl.edu	37	11	6816373	6816373	+	Silent	SNP	C	C	T			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr11:6816373C>T	ENST00000332601.3	-	1	755	c.567G>A	c.(565-567)ttG>ttA	p.L189L		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	189					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L189L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGAGGTTGAGCAATGGAGAGA	0.463																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	11											127	131	130					11																	6816373		2201	4296	6497	6772949	SO:0001819	synonymous_variant	0			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"GPCR / Class A : Olfactory receptors"	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.567G>A	11.37:g.6816373C>T		1237	0.72	9					6772949	1422	42.82	1065	Q3MJC7|Q6IF35|Q9H206	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.L189	ENST00000332601.3	37	c.567	CCDS7772.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.463	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	protein_coding	OTTHUMT00000385981.1	C	NM_003696		6772949	-1	no_errors	NM_003696.2	genbank	human	provisional	54_36p	silent	SNP	0.006	T	T	6816373	C	T	6816373	2	4	149	1	0	0	0	0	0	0	0	1	11186	709	25	2		2	OR6A2	11	6816373	Silent	SNP	C	TCGA-AB-2964-03A-01D-0739-09	5544587	6816373	128190143	11	1678											
TMTC2	160335	genome.wustl.edu	37	12	83526070	83526070	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr12:83526070G>A	ENST00000321196.3	+	12	3120	c.2413G>A	c.(2413-2415)Gcc>Acc	p.A805T	TMTC2_ENST00000549919.1_Missense_Mutation_p.A799T	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	805					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.A805T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTACCTGCGGGCCCTGCAGCT	0.512																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											90	77	81					12																	83526070		2203	4300	6503	82050201	SO:0001583	missense	0			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"Tetratricopeptide (TTC) repeat domain containing"	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2413G>A	12.37:g.83526070G>A	ENSP00000322300:p.Ala805Thr	863	0.12	1		5	0	0	82050201	407	50.66	421	B2RCU7|Q8N2K8	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMPfam_TPR_2,HMMPfam_DUF1736,HMMSmart_SM00028,superfamily_TPR-like	p.A805T	ENST00000321196.3	37	c.2413	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377471	0.82682	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.80214	-1.35;-1.35	5.33	5.33	0.75918	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.91988	0.7462	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93487	0.6832	10	0.72032	D	0.01	-8.1757	18.0042	0.89205	0.0:0.0:1.0:0.0	.	805	Q8N394	TMTC2_HUMAN	T	805;799;560	ENSP00000322300:A805T;ENSP00000447609:A799T	ENSP00000322300:A805T	A	+	1	0	TMTC2	82050201	1.000000	0.71417	0.996000	0.52242	0.300000	0.27592	9.804000	0.99143	2.512000	0.84698	0.655000	0.94253	GCC	-	HMMPfam_TPR_1,HMMSmart_SM00028,superfamily_TPR-like		0.512	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	protein_coding	OTTHUMT00000405663.1	G	NM_152588		82050201	1	no_errors	NM_152588.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	83526070	G	A	83526070	3	1	149	1	0	0	0	0	1	0	0	0	16258	1203	42	2	2459	2	TMTC2	12	83526070	Missense_Mutation	SNP	G	TCGA-AB-2964-03A-01D-0739-09		83526070	50325825	12	1679											
ARHGAP5	394	genome.wustl.edu	37	14	32560488	32560488	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr14:32560488G>A	ENST00000345122.3	+	2	928	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V205M|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V205M|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V205M|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	205					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.V205M(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGATGAATGCGTGGATCATTA	0.318																																					NSCLC(9;77 350 3443 29227 41353)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											68	73	71					14																	32560488		2202	4298	6500	31630239	SO:0001583	missense	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"Rho GTPase activating proteins"	675	protein-coding gene	gene with protein product		602680	"growth factor independent 2"	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.613G>A	14.37:g.32560488G>A	ENSP00000371897:p.Val205Met	1020	0.39	4		12	20	3	31630239	371	41.94	268	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_FF,HMMSmart_SM00441,superfamily_FF domain,superfamily_GTPase activation domain GAP,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V205M	ENST00000345122.3	37	c.613	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	G	14.10	2.435058	0.43224	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28	5.68	5.68	0.88126	.	0.123636	0.53938	D	0.000052	D	0.89167	0.6638	M	0.73598	2.24	0.51012	D	0.999907	D;D	0.76494	0.999;0.999	D;D	0.67725	0.922;0.953	D	0.87145	0.2205	10	0.34782	T	0.22	.	19.7885	0.96447	0.0:0.0:1.0:0.0	.	205;205	Q13017-2;Q13017	.;RHG05_HUMAN	M	205	ENSP00000452222:V205M;ENSP00000441692:V205M;ENSP00000371897:V205M;ENSP00000393307:V205M	ENSP00000371897:V205M	V	+	1	0	ARHGAP5	31630239	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.817000	0.75252	2.660000	0.90430	0.655000	0.94253	GTG	-	HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.318	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	protein_coding	OTTHUMT00000409735.1	G	NM_001030055		31630239	1	no_errors	NM_001030055.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	32560488	G	A	32560488	3	1	149	1	0	0	0	0	1	0	0	0	886	1145	40	1	615	1	ARHGAP5	14	32560488	Missense_Mutation	SNP	G	TCGA-AB-2964-03A-01D-0739-09		32560488	74789052	13	1680											
PRSS27	83886	genome.wustl.edu	37	16	2763665	2763665	+	Silent	SNP	G	G	C	rs140672073	byFrequency	TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chr16:2763665G>C	ENST00000302641.3	-	5	597	c.543C>G	c.(541-543)ctC>ctG	p.L181L	AC092117.1_ENST00000410123.1_RNA	NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	181	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)	p.L181L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						TGGGCACAGCGAGTTTCTGCA	0.582																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	16											166	122	137					16																	2763665		2198	4300	6498	2703666	SO:0001819	synonymous_variant	0			AB056161	CCDS10476.1	16p13.3	2010-05-07			ENSG00000172382	ENSG00000172382		"Serine peptidases / Serine peptidases"	15475	protein-coding gene	gene with protein product		608018					Standard	NM_031948		Approved	MPN, pancreasin, CAPH2, marapsin	uc002crf.3	Q9BQR3	OTTHUMG00000128929	ENST00000302641.3:c.543C>G	16.37:g.2763665G>C		294	0	0		3	0	0	2703666	77	44.2	61		Silent	SNP	HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.L181	ENST00000302641.3	37	c.543	CCDS10476.1	16																																																																																			-	HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys		0.582	PRSS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS27	protein_coding	OTTHUMT00000250908.1	G	NM_031948		2703666	-1	no_errors	NM_031948.3	genbank	human	validated	54_36p	silent	SNP	0.031	C	C	2763665	G	C	2763665	2	2	149	1	0	0	0	0	0	0	0	1	12621	1045	37	4		4	PRSS27	16	2763665	Silent	SNP	G	TCGA-AB-2964-03A-01D-0739-09		2763665	87591088	14	1681											
ARSF	416	genome.wustl.edu	37	X	3021841	3021841	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chrX:3021841G>A	ENST00000381127.1	+	9	1362	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	ARSF_ENST00000537104.1_Missense_Mutation_p.V381I|ARSF_ENST00000359361.2_Missense_Mutation_p.V381I	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	381					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.V381I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGAATCCGCGTCCCAGGAAT	0.438																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											95	85	88					X																	3021841		2203	4300	6503	3031841	SO:0001583	missense	0			X97868	CCDS14123.1	Xp22.3	2013-02-14			ENSG00000062096	ENSG00000062096		"Arylsulfatase family"	721	protein-coding gene	gene with protein product		300003				7720070	Standard	NM_004042		Approved		uc022brz.1	P54793	OTTHUMG00000021081	ENST00000381127.1:c.1141G>A	X.37:g.3021841G>A	ENSP00000370519:p.Val381Ile	726	0.27	2					3031841	657	38.19	406	Q8TCC5	Missense_Mutation	SNP	HMMPfam_Sulfatase,PatternScan_SULFATASE_2,PatternScan_SULFATASE_1,superfamily_Alkaline phosphatase-like	p.V381I	ENST00000381127.1	37	c.1141	CCDS14123.1	X	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437101	0.43224	.	.	ENSG00000062096	ENST00000381127;ENST00000537104;ENST00000359361	D;D;D	0.95724	-3.79;-3.79;-3.79	3.53	3.53	0.40419	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.64402	U	0.000001	D	0.98033	0.9352	M	0.85630	2.765	0.48341	D	0.999639	B	0.32425	0.371	D	0.65443	0.935	D	0.97887	1.0295	10	0.44086	T	0.13	.	14.4629	0.67465	0.0:0.0:1.0:0.0	.	381	P54793	ARSF_HUMAN	I	381	ENSP00000370519:V381I;ENSP00000445594:V381I;ENSP00000352319:V381I	ENSP00000352319:V381I	V	+	1	0	ARSF	3031841	1.000000	0.71417	0.016000	0.15963	0.066000	0.16364	7.893000	0.87330	1.374000	0.46228	0.411000	0.27672	GTC	-	HMMPfam_Sulfatase,superfamily_Alkaline phosphatase-like		0.438	ARSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSF	protein_coding	OTTHUMT00000055652.1	G			3031841	1	no_errors	NM_004042.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	3021841	G	A	3021841	3	1	149	1	0	0	0	0	1	0	0	0	991	1145	40	1	1171	1	ARSF	23	3021841	Missense_Mutation	SNP	G	TCGA-AB-2964-03A-01D-0739-09		3021841	152248719	15	1682											
SHROOM2	357	genome.wustl.edu	37	X	9900372	9900372	+	Nonsense_Mutation	SNP	C	C	T	rs201265738		TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chrX:9900372C>T	ENST00000380913.3	+	6	3139	c.3049C>T	c.(3049-3051)Cga>Tga	p.R1017*	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1017					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.R1017*(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AACCCTACCTCGAGATTATAG	0.647																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	X											30	30	30					X																	9900372		2198	4297	6495	9860372	SO:0001587	stop_gained	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"apical protein, Xenopus laevis-like", "apical protein-like (Xenopus laevis)"	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3049C>T	X.37:g.9900372C>T	ENSP00000370299:p.Arg1017*	319	0	0					9860372	89	37.76	54	B9EIQ7	Nonsense_Mutation	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_ASD2,HMMPfam_ASD1	p.R1017*	ENST00000380913.3	37	c.3049	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	c	38	6.972123	0.97971	.	.	ENSG00000146950	ENST00000380913	.	.	.	4.26	2.17	0.27698	.	0.800436	0.11393	N	0.568569	.	.	.	.	.	.	0.18873	N	0.999983	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.2011	0.15264	0.4945:0.3815:0.0:0.1241	.	.	.	.	X	1017	.	ENSP00000370299:R1017X	R	+	1	2	SHROOM2	9860372	0.056000	0.20664	0.004000	0.12327	0.010000	0.07245	1.535000	0.36061	0.630000	0.30394	0.591000	0.81541	CGA	-	NULL		0.647	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	protein_coding	OTTHUMT00000055721.1	C	NM_001649		9860372	1	no_errors	NM_001649.2	genbank	human	reviewed	54_36p	nonsense	SNP	0.732	T	T	9900372	C	T	9900372	4	4	149	1	0	0	0	0	0	1	0	0	14294	876	31	1	3071	1	SHROOM2	23	9900372	Nonsense_Mutation	SNP	C	TCGA-AB-2964-03A-01D-0739-09	6878531	9900372	145370188	16	1683											
CAPN6	827	genome.wustl.edu	37	X	110507007	110507007	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chrX:110507007C>T	ENST00000324068.1	-	2	325	c.158G>A	c.(157-159)cGt>cAt	p.R53H	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	53	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.R53H(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TACCTGGGGACGTTTCCACAC	0.428																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											136	120	125					X																	110507007		2203	4300	6503	110393663	SO:0001583	missense	0			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.158G>A	X.37:g.110507007C>T	ENSP00000317214:p.Arg53His	1124	0.09	1					110393663	597	36.69	346	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_C2,PatternScan_THIOL_PROTEASE_CYS,PatternScan_THIOL_PROTEASE_HIS,PatternScan_THIOL_PROTEASE_ASN,HMMPfam_Peptidase_C2,HMMPfam_Calpain_III,HMMSmart_CysPc,HMMSmart_calpain_III,superfamily_Peptidase_C2,superfamily_C2_CaLB,superfamily_SSF54001	p.R53H	ENST00000324068.1	37	c.158	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479347	0.84747	.	.	ENSG00000077274	ENST00000324068	T	0.71461	-0.57	5.78	5.78	0.91487	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.90463	0.7013	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93893	0.7181	10	0.87932	D	0	.	15.7781	0.78240	0.0:1.0:0.0:0.0	.	53	Q9Y6Q1	CAN6_HUMAN	H	53	ENSP00000317214:R53H	ENSP00000317214:R53H	R	-	2	0	CAPN6	110393663	0.997000	0.39634	0.998000	0.56505	0.890000	0.51754	5.046000	0.64226	2.439000	0.82584	0.544000	0.68410	CGT	-	HMMPfam_Peptidase_C2,HMMSmart_CysPc,superfamily_SSF54001		0.428	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	protein_coding	OTTHUMT00000057922.1	C			110393663	-1	no_errors	NM_014289.2	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	110507007	C	T	110507007	3	4	149	1	0	0	0	0	1	0	0	0	2630	536	19	1	1815	1	CAPN6	23	110507007	Missense_Mutation	SNP	C	TCGA-AB-2964-03A-01D-0739-09	100606635	110507007	44763553	17	1684											
STAG2	10735	genome.wustl.edu	37	X	123205041	123205041	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chrX:123205041C>T	ENST00000371160.1	+	25	2691	c.2401C>T	c.(2401-2403)Cag>Tag	p.Q801*	STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q801*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q801*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q732*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q801*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q801*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	801					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.Q801*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTTCAGCCATCAGATTATGTC	0.373																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	X											208	183	191					X																	123205041		2203	4300	6503	123032722	SO:0001587	stop_gained	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2401C>T	X.37:g.123205041C>T	ENSP00000360202:p.Gln801*	669	0.15	1		0	100	7	123032722	655	39.84	435	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	HMMPfam_STAG,superfamily_ARM-type_fold	p.Q801*	ENST00000371160.1	37	c.2401	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	43	10.427672	0.99403	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-3.7593	18.3649	0.90388	0.0:1.0:0.0:0.0	.	.	.	.	X	801;732;801;801;801;801	.	ENSP00000218089:Q801X	Q	+	1	0	STAG2	123032722	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.278000	0.76064	0.538000	0.68166	CAG	-	superfamily_ARM-type_fold		0.373	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	C	NM_006603		123032722	1	no_errors	NM_001042749.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	123205041	C	T	123205041	4	4	149	1	0	0	0	0	0	1	0	0	15242	827	29	2	2491	2	STAG2	23	123205041	Nonsense_Mutation	SNP	C	TCGA-AB-2964-03A-01D-0739-09	12698034	123205041	32065519	18	1685											
ZNF75D	7626	genome.wustl.edu	37	X	134428053	134428053	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2964-03A-01D-0739-09	TCGA-AB-2964-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	81878b07-8cd3-47ff-86e8-75ac7e99f4a7	4f7299ec-0ee1-4eb8-88fa-1a5007bab63a	g.chrX:134428053T>C	ENST00000370766.3	-	3	2723	c.14A>G	c.(13-15)gAg>gGg	p.E5G	ZNF75D_ENST00000370764.1_Missense_Mutation_p.E5G|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	5					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E5G(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CGCGTTCAGCTCTCTCATCGC	0.493																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											118	123	122					X																	134428053		2203	4300	6503	134255719	SO:0001583	missense	0			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"Zinc fingers, C2H2-type", "-", "-", "-"	13145	protein-coding gene	gene with protein product		314997	"zinc finger protein 75 (D8C6)"	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.14A>G	X.37:g.134428053T>C	ENSP00000359802:p.Glu5Gly	739	0.13	1		0	100	2	134255719	430	41.02	299	A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_KRAB,superfamily_Krueppel-associated_box,HMMPfam_SCAN,HMMSmart_SCAN,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.E5G	ENST00000370766.3	37	c.14	CCDS14648.1	X	.	.	.	.	.	.	.	.	.	.	T	10.46	1.356248	0.24598	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.07021	3.23;3.23	3.17	0.639	0.17747	.	.	.	.	.	T	0.02807	0.0084	N	0.08118	0	0.09310	N	1	B;B	0.33694	0.281;0.421	B;B	0.25291	0.057;0.059	T	0.42344	-0.9457	9	0.20046	T	0.44	.	2.2502	0.04042	0.2488:0.1459:0.0:0.6053	.	5;5	P51815;A6NK62	ZN75D_HUMAN;.	G	5	ENSP00000359802:E5G;ENSP00000359800:E5G	ENSP00000359800:E5G	E	-	2	0	ZNF75D	134255719	0.003000	0.15002	0.001000	0.08648	0.081000	0.17604	0.810000	0.27183	0.028000	0.15324	0.417000	0.27973	GAG	-	NULL		0.493	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	protein_coding	OTTHUMT00000058415.1	T	NM_007131		134255719	-1	no_errors	NM_007131.2	genbank	human	validated	54_36p	missense	SNP	0.003	C	C	134428053	T	C	134428053	3	2	149	1	0	0	0	0	1	0	0	0	18131	1551	54	3	1538	3	ZNF75D	23	134428053	Missense_Mutation	SNP	T	TCGA-AB-2964-03A-01D-0739-09	11223012	134428053	20842507	19	1686											
FAM5C	339479	genome.wustl.edu	37	1	190067990	190067990	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr1:190067990C>T	ENST00000367462.3	-	8	1690	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	BRINP3_ENST00000534846.1_Missense_Mutation_p.G385S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	487					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.G487S(1)									GTTTCAAAGCCAATATAGTGA	0.522																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											155	155	155					1																	190067990		2203	4300	6503	188334613	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1459G>A	1.37:g.190067990C>T	ENSP00000356432:p.Gly487Ser	382	13.18	58					188334613	308	47.09	275	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.G487S	ENST00000367462.3	37	c.1459	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965152	0.53507	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.33216	1.42;1.42	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	L	0.45137	1.4	0.80722	D	1	P;P	0.46142	0.873;0.633	P;B	0.49561	0.615;0.255	T	0.01528	-1.1332	10	0.25751	T	0.34	.	17.4417	0.87566	0.0:1.0:0.0:0.0	.	385;487	B7Z260;Q76B58	.;FAM5C_HUMAN	S	487;385	ENSP00000356432:G487S;ENSP00000438022:G385S	ENSP00000356432:G487S	G	-	1	0	FAM5C	188334613	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	6.010000	0.70753	2.712000	0.92718	0.591000	0.81541	GGC	-	NULL		0.522	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	C	NM_199051		188334613	-1	no_errors	NM_199051.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	190067990	C	T	190067990	3	4	150	1	0	0	0	0	1	0	0	0	5594	594	21	2	845	2	FAM5C	1	190067990	Missense_Mutation	SNP	C	TCGA-AB-2965-03A-01D-0739-09		190067990	59182631	1	1687											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	21	16	4		16	48.39	15	25310746	12	45.45	10	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	150	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2965-03A-01D-0739-09		25457242	217742131	2	1688											
VIPR1	7433	genome.wustl.edu	37	3	42555253	42555253	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr3:42555253G>A	ENST00000325123.4	+	2	204	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	VIPR1_ENST00000433647.1_5'UTR|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Intron|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	31					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.A31T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CGGCCAGGCGGCCAGGCTGCA	0.617																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											38	31	34					3																	42555253		2073	4002	6075	42530257	SO:0001583	missense	0			AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"	12694	protein-coding gene	gene with protein product	"VIP and PACAP receptor 1"	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.91G>A	3.37:g.42555253G>A	ENSP00000327246:p.Ala31Thr	342	12.24	48					42530257	87	56.93	115	A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Missense_Mutation	SNP	HMMPfam_7tm_2,HMMPfam_HRM,HMMSmart_SM00008,PatternScan_G_PROTEIN_RECEP_F2_1,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_Hormone receptor domain (HRM Pfam 02793),superfamily_Family A G protein-coupled receptor-like	p.A31T	ENST00000325123.4	37	c.91	CCDS2698.1	3	.	.	.	.	.	.	.	.	.	.	G	10.67	1.416693	0.25552	.	.	ENSG00000114812	ENST00000439731;ENST00000325123	T;T	0.54479	0.57;0.57	4.15	-2.59	0.06209	.	1.163900	0.06692	N	0.769873	T	0.28067	0.0692	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22836	-1.0205	10	0.12766	T	0.61	.	9.4098	0.38485	0.6617:0.0:0.3383:0.0	.	31	P32241	VIPR1_HUMAN	T	31	ENSP00000403478:A31T;ENSP00000327246:A31T	ENSP00000327246:A31T	A	+	1	0	VIPR1	42530257	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.838000	0.04372	-0.581000	0.05937	0.561000	0.74099	GCC	-	superfamily_Hormone receptor domain (HRM Pfam 02793)		0.617	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPR1	protein_coding	OTTHUMT00000254728.4	G	NM_004624		42530257	1	no_errors	NM_004624.3	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	42555253	G	A	42555253	3	1	150	1	0	0	0	0	1	0	0	0	17166	1203	42	2	97	2	VIPR1	3	42555253	Missense_Mutation	SNP	G	TCGA-AB-2965-03A-01D-0739-09		42555253	155467177	3	1689											
TET2	54790	genome.wustl.edu	37	4	106180919	106180919	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr4:106180919delC	ENST00000540549.1	+	7	4807	c.3947delC	c.(3946-3948)ccafs	p.P1316fs	TET2_ENST00000380013.4_Frame_Shift_Del_p.P1316fs|TET2_ENST00000513237.1_Frame_Shift_Del_p.P1337fs|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1316					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.P1316fs*47(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGGGATGACCCAAAAGAGGTT	0.383			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	4											88	75	79					4																	106180919		692	1591	2283	106400368	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3947delC	4.37:g.106180919delC	ENSP00000442788:p.Pro1316fs	213	0	0		11	0	0	106400368	202	0	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.P118fs	ENST00000540549.1	37	c.353	CCDS47120.1	4																																																																																			-	NULL		0.383	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106400368	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_del	DEL	1.000	-	-	106180919	C	-	106180919	7	5	150	1	0	1	0	1	0	0	0	0	15767	594	21	0	4054	0	TET2	4	106180919	Frame_Shift_Del	DEL	C	TCGA-AB-2965-03A-01D-0739-09		106180919	84973357	4	1690											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	150	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2965-03A-01D-0739-09		170837547	10077713	5	1691											
HK1	3098	genome.wustl.edu	37	10	71158533	71158533	+	Missense_Mutation	SNP	G	G	A	rs538768945		TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr10:71158533G>A	ENST00000359426.6	+	17	2662	c.2558G>A	c.(2557-2559)cGt>cAt	p.R853H	HK1_ENST00000448642.2_Missense_Mutation_p.R888H|HK1_ENST00000404387.2_Missense_Mutation_p.R857H|HK1_ENST00000298649.3_Missense_Mutation_p.R852H|HK1_ENST00000360289.2_Missense_Mutation_p.R841H	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	853	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R857H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGACTGGACCGTCTGAATGTG	0.592													G|||	1	0.000199681	0	0	5008	,	,		20130	0.001		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											106	96	99					10																	71158533		2203	4300	6503	70828539	SO:0001583	missense	0			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.2558G>A	10.37:g.71158533G>A	ENSP00000352398:p.Arg853His	557	17.47	119		32	45.76	27	70828539	190	48.93	183	E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES,superfamily_SSF53067	p.R857H	ENST00000359426.6	37	c.2570	CCDS7292.1	10	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803801	0.16467	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98;-3.98	5.49	-6.87	0.01671	Hexokinase, C-terminal (1);	0.244803	0.47455	N	0.000234	T	0.80154	0.4571	N	0.04260	-0.245	0.09310	N	1	B;B;B;B;B	0.34399	0.0;0.0;0.0;0.0;0.452	B;B;B;B;B	0.13407	0.0;0.0;0.001;0.0;0.009	T	0.82450	-0.0451	10	0.17832	T	0.49	-2.7662	2.7801	0.05358	0.4238:0.1886:0.2953:0.0922	.	853;852;888;857;841	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	H	841;888;857;852;853;853	ENSP00000353433:R841H;ENSP00000402103:R888H;ENSP00000384774:R857H;ENSP00000298649:R852H;ENSP00000352398:R853H	ENSP00000298649:R852H	R	+	2	0	HK1	70828539	0.000000	0.05858	0.020000	0.16555	0.982000	0.71751	-0.067000	0.11579	-0.792000	0.04480	-0.251000	0.11542	CGT	-	HMMPfam_Hexokinase_2,superfamily_SSF53067		0.592	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK1	protein_coding	OTTHUMT00000048429.2	G	NM_000188		70828539	1	no_errors	NM_033497.2	genbank	human	reviewed	54_36p	missense	SNP	0.888	A	A	71158533	G	A	71158533	3	1	150	1	0	0	0	0	1	0	0	0	7190	1145	40	1	2802	1	HK1	10	71158533	Missense_Mutation	SNP	G	TCGA-AB-2965-03A-01D-0739-09		71158533	64376214	6	1692											
RASSF7	8045	genome.wustl.edu	37	11	562159	562159	+	Missense_Mutation	SNP	G	G	T	rs371463729	byFrequency	TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr11:562159G>T	ENST00000397583.3	+	3	638	c.205G>T	c.(205-207)Gcc>Tcc	p.A69S	RASSF7_ENST00000454668.2_Missense_Mutation_p.A69S|C11orf35_ENST00000329451.3_5'Flank|RASSF7_ENST00000524468.1_3'UTR|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Missense_Mutation_p.A69S|RASSF7_ENST00000431809.1_Missense_Mutation_p.A69S|RP11-496I9.1_ENST00000527113.1_RNA|RASSF7_ENST00000344375.4_Missense_Mutation_p.A69S	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	69	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.A69S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCAGTGGGCGCCCAGGCCAC	0.642																																					Pancreas(184;1170 3913 7268)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											27	26	26					11																	562159		2201	4299	6500	552159	SO:0001583	missense	0			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"chromosome 11 open reading frame 13"	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.205G>T	11.37:g.562159G>T	ENSP00000380713:p.Ala69Ser	59	9.23	6		3	62.5	5	552159	28	41.67	20	G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	HMMPfam_RA,HMMSmart_SM00314	p.A69S	ENST00000397583.3	37	c.205	CCDS7702.1	11	.	.	.	.	.	.	.	.	.	.	G	8.630	0.893483	0.17613	.	.	ENSG00000099849	ENST00000431809;ENST00000397582;ENST00000344375;ENST00000397583;ENST00000454668;ENST00000528736	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15	3.8	3.8	0.43715	Ras-association (3);	0.285386	0.34628	N	0.003818	T	0.08802	0.0218	N	0.00801	-1.175	0.33377	D	0.574342	P;P;P	0.39443	0.623;0.674;0.623	B;P;B	0.46685	0.389;0.524;0.389	T	0.22800	-1.0206	10	0.13853	T	0.58	-0.1349	10.7102	0.45980	0.0:0.0:0.6841:0.3159	.	69;69;69	G5E9N9;Q02833;Q02833-2	.;RASF7_HUMAN;.	S	69	ENSP00000403068:A69S;ENSP00000380712:A69S;ENSP00000344226:A69S;ENSP00000380713:A69S;ENSP00000405606:A69S;ENSP00000433165:A69S	ENSP00000344226:A69S	A	+	1	0	RASSF7	552159	0.984000	0.35163	1.000000	0.80357	0.965000	0.64279	2.860000	0.48372	1.970000	0.57323	0.555000	0.69702	GCC	-	HMMPfam_RA,HMMSmart_SM00314		0.642	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	protein_coding	OTTHUMT00000254972.2	G	NM_003475		552159	1	no_errors	NM_003475.1	genbank	human	validated	54_36p	missense	SNP	0.996	T	T	562159	G	T	562159	3	4	150	1	0	0	0	0	1	0	0	0	13091	1087	38	4	211	4	RASSF7	11	562159	Missense_Mutation	SNP	G	TCGA-AB-2965-03A-01D-0739-09		562159	134444357	7	1693											
FLT3	2322	genome.wustl.edu	37	13	28608338	28608339	+	In_Frame_Ins	INS	-	-	TTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT			TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	-	-	-	TTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr13:28608338_28608339insTTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT	ENST00000241453.7	-	14	1798_1799	c.1717_1718insAAAAGCCAGCTACAGATGGTACAGGTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAA	c.(1717-1719)gaa>gAAAAGCCAGCTACAGATGGTACAGGTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAAaa	p.573_574insKPATDGTGDRLLR**VLLR*FQRK	FLT3_ENST00000537084.1_In_Frame_Ins_p.573_574insKPATDGTGDRLLR**VLLR*FQRK|FLT3_ENST00000380982.4_In_Frame_Ins_p.573_574insKPATDGTGDRLLR**VLLR*FQRK	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	573					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Q569_Q580del(1)|p.Y572_E573ins32(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAGCTGGCTTTCATACCTAAAT	0.381			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	2	Insertion - In frame(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(2)	13																																								27506339	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1717_1718insAAAAGCCAGCTACAGATGGTACAGGTGACCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAA	13.37:g.28608338_28608339insTTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT	ENSP00000241453:p.Glu573_Ser574insLysProAlaThrAspGlyThrGlyAspArgLeuLeuArg**ValLeuLeuArg*PheGlnArgLys								27506338				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.574in_frame_insKPATDGTGDRLLR**VLLR*FQRK	ENST00000241453.7	37	c.1718_1717	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506339	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	TTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT	TTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT	28608339	-	TTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGTCACCTGTACCATCTGTAGCTGGCTTTT	28608338	7	5	150	1	0	1	1	0	0	0	0	0	5942	1783	62	0	1307	0	FLT3	13	28608338	In_Frame_Ins	INS	-	TCGA-AB-2965-03A-01D-0739-09		28608338	86561540	8	1694											
EFTUD1	79631	genome.wustl.edu	37	15	82530687	82530687	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr15:82530687T>C	ENST00000268206.7	-	7	860	c.692A>G	c.(691-693)aAt>aGt	p.N231S	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N180S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	231	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.N231S(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAACACCACATTTCCCTGTTC	0.413																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	15											88	86	87					15																	82530687		1887	4123	6010	80317742	SO:0001583	missense	0			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"ribosome assembly 1 homolog (yeast)"					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.692A>G	15.37:g.82530687T>C	ENSP00000268206:p.Asn231Ser	376	13.56	59		8	57.89	11	80317742	191	50.77	197	A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	HMMPfam_EFG_C,HMMPfam_GTP_EFTU,HMMPfam_EFG_IV,superfamily_Translation proteins,superfamily_EF-G C-terminal domain-like,superfamily_Ribosomal protein S5 domain 2-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.N231S	ENST00000268206.7	37	c.692	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	T	15.80	2.939852	0.52972	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.77358	-1.09;-1.09	4.34	3.21	0.36854	Protein synthesis factor, GTP-binding (1);	0.317365	0.24873	U	0.034909	D	0.83298	0.5224	M	0.64567	1.98	0.58432	D	0.999998	D;P	0.64830	0.994;0.774	D;P	0.63877	0.919;0.53	T	0.83318	-0.0019	10	0.87932	D	0	.	10.0983	0.42488	0.0:0.0807:0.0:0.9193	.	180;231	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	S	231;180	ENSP00000268206:N231S;ENSP00000352418:N180S	ENSP00000268206:N231S	N	-	2	0	EFTUD1	80317742	1.000000	0.71417	0.818000	0.32626	0.989000	0.77384	5.865000	0.69583	0.808000	0.34231	0.333000	0.21579	AAT	-	HMMPfam_GTP_EFTU,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.413	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	protein_coding	OTTHUMT00000419252.1	T	NM_024580		80317742	-1	no_errors	NM_024580.2	genbank	human	validated	54_36p	missense	SNP	0.997	C	C	82530687	T	C	82530687	3	2	150	1	0	0	0	0	1	0	0	0	4960	1493	52	3	2726	3	EFTUD1	15	82530687	Missense_Mutation	SNP	T	TCGA-AB-2965-03A-01D-0739-09		82530687	20000705	9	1695											
ZNF689	115509	genome.wustl.edu	37	16	30616519	30616519	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2965-03A-01D-0739-09	TCGA-AB-2965-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3467d556-ea36-46aa-b48f-29896f5b56f3	882146d8-0b40-490b-b405-7ba28bf8aaa0	g.chr16:30616519G>C	ENST00000287461.3	-	3	906	c.569C>G	c.(568-570)tCc>tGc	p.S190C	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	190					regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S190C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GACCAGCAGGGATGGATAGGA	0.587																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16											71	74	73					16																	30616519		2197	4300	6497	30524020	SO:0001583	missense	0			BC014000	CCDS10686.1	16p11.2	2013-01-08			ENSG00000156853	ENSG00000156853		"Zinc fingers, C2H2-type", "-"	25173	protein-coding gene	gene with protein product							Standard	NM_138447		Approved	FLJ90415	uc031qvq.1	Q96CS4	OTTHUMG00000132415	ENST00000287461.3:c.569C>G	16.37:g.30616519G>C	ENSP00000287461:p.Ser190Cys	386	13.62	61		2	75	6	30524020	126	43.24	96	Q658J5	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.S190C	ENST00000287461.3	37	c.569	CCDS10686.1	16	.	.	.	.	.	.	.	.	.	.	g	5.714	0.316195	0.10789	.	.	ENSG00000156853	ENST00000287461;ENST00000443190	T	0.58940	0.3	5.13	5.13	0.70059	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001074	T	0.63616	0.2526	M	0.82433	2.59	0.09310	N	1	B	0.26195	0.144	B	0.27715	0.082	T	0.61608	-0.7028	10	0.66056	D	0.02	-24.2342	16.1202	0.81346	0.0:0.0:1.0:0.0	.	190	Q96CS4	ZN689_HUMAN	C	190	ENSP00000287461:S190C	ENSP00000287461:S190C	S	-	2	0	ZNF689	30524020	0.022000	0.18835	1.000000	0.80357	0.006000	0.05464	1.773000	0.38563	2.666000	0.90696	0.557000	0.71058	TCC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.587	ZNF689-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF689	protein_coding	OTTHUMT00000255552.1	G	NM_138447		30524020	-1	no_errors	NM_138447.1	genbank	human	provisional	54_36p	missense	SNP	0.705	C	C	30616519	G	C	30616519	3	2	150	1	0	0	0	0	1	0	0	0	18091	1174	41	4	937	4	ZNF689	16	30616519	Missense_Mutation	SNP	G	TCGA-AB-2965-03A-01D-0739-09		30616519	59738234	10	1696											
LRRC40	55631	genome.wustl.edu	37	1	70614235	70614235	+	Silent	SNP	C	C	T			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr1:70614235C>T	ENST00000370952.3	-	14	1717	c.1638G>A	c.(1636-1638)acG>acA	p.T546T		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	546						membrane (GO:0016020)		p.T546T(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GAAGGTCCAACGTGGTCAGAT	0.358																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											203	201	201					1																	70614235		2203	4300	6503	70386823	SO:0001819	synonymous_variant	0				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1638G>A	1.37:g.70614235C>T		538	0.37	2		10	54.55	12	70386823	279	45.21	231	Q9BTR7|Q9NSK1|Q9NXC1	Silent	SNP	HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058	p.T546	ENST00000370952.3	37	c.1638	CCDS646.1	1																																																																																			-	HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058		0.358	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	protein_coding	OTTHUMT00000025914.1	C	NM_017768		70386823	-1	no_errors	NM_017768.3	genbank	human	provisional	54_36p	silent	SNP	0.095	T	T	70614235	C	T	70614235	2	4	151	1	0	0	0	0	0	0	0	1	8998	523	19	1		1	LRRC40	1	70614235	Silent	SNP	C	TCGA-AB-2966-03A-01D-0739-09		70614235	178636386	1	1697											
RGS8	85397	genome.wustl.edu	37	1	182616020	182616020	+	Silent	SNP	C	C	T	rs147293552		TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr1:182616020C>T	ENST00000483095.2	-	7	650	c.393G>A	c.(391-393)acG>acA	p.T131T	RGS8_ENST00000367557.4_Silent_p.T131T|RGS8_ENST00000367556.1_Silent_p.T131T|RGS8_ENST00000258302.4_Silent_p.T149T			P57771	RGS8_HUMAN	regulator of G-protein signaling 8	131	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.T149T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						GGTTCTTCCTCGTGGCTTCTC	0.527													C|||	1	0.000199681	0	0	5008	,	,		17602	0.001		0	False		,,,				2504	0				Ovarian(189;1262 3804 41973)	dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1						C	,	1,4405	2.1+/-5.4	0,1,2202	159	155	156		393,447	-1.6	1	1	dbSNP_134	156	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	RGS8	NM_001102450.1,NM_033345.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	131/181,149/199	182616020	1,13005	2203	4300	6503	180882643	SO:0001819	synonymous_variant	0			AF297015	CCDS1349.1, CCDS41443.1	1q25	2008-07-18	2007-08-14		ENSG00000135824	ENSG00000135824		"Regulators of G-protein signaling"	16810	protein-coding gene	gene with protein product		607189	"regulator of G-protein signalling 8"			11318611	Standard	NM_001102450		Approved	MGC119067, MGC119068, MGC119069	uc001gpm.1	P57771	OTTHUMG00000035219	ENST00000483095.2:c.393G>A	1.37:g.182616020C>T		246	3.52	9					180882643	232	38.2	144	B4DGL9|Q3SYD2	Silent	SNP	HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam	p.T149	ENST00000483095.2	37	c.447	CCDS41443.1	1																																																																																			-	HMMPfam_RGS,HMMSmart_RGS,superfamily_Regulat_G_prot_signal_superfam		0.527	RGS8-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RGS8	protein_coding	OTTHUMT00000358979.1	C	NM_033345		180882643	-1	no_errors	NM_033345.1	genbank	human	reviewed	54_36p	silent	SNP	0.990	T	T	182616020	C	T	182616020	2	4	151	1	0	0	0	0	0	0	0	1	13312	871	31	1		1	RGS8	1	182616020	Silent	SNP	C	TCGA-AB-2966-03A-01D-0739-09	112001785	182616020	66634601	2	1698											
DNMT3A	1788	genome.wustl.edu	37	2	25467106	25467106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr2:25467106delC	ENST00000264709.3	-	15	2106	c.1769delG	c.(1768-1770)ggtfs	p.G590fs	DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.G401fs|DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.G367fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.G590fs|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	590	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.G590fs*61(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGTAGGTACCCTTGTGCCC	0.622			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	2											29	34	33					2																	25467106		2203	4300	6503	25320610	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1769delG	2.37:g.25467106delC	ENSP00000264709:p.Gly590fs	0	0	0		0	100	2	25320610	0	0	0	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.G590fs	ENST00000264709.3	37	c.1769	CCDS33157.1	2																																																																																			-	superfamily_FYVE/PHD zinc finger		0.622	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25320610	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	25467106	C	-	25467106	7	5	151	1	0	1	0	1	0	0	0	0	4676	507	18	0	1005	0	DNMT3A	2	25467106	Frame_Shift_Del	DEL	C	TCGA-AB-2966-03A-01D-0739-09		25467106	217732267	3	1699											
VCAN	1462	genome.wustl.edu	37	5	82816697	82816697	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr5:82816697C>A	ENST00000265077.3	+	7	3137	c.2572C>A	c.(2572-2574)Cca>Aca	p.P858T	VCAN_ENST00000512590.2_Missense_Mutation_p.P810T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P858T	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	858	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P858T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TACTCTTATTCCAGATAGTAC	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											99	101	101					5																	82816697		2203	4300	6503	82852453	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"Immunoglobulin superfamily / V-set domain containing", "Proteoglycans / Extracellular Matrix : Hyalectans"	2464	protein-coding gene	gene with protein product	"versican proteoglycan"	118661	"chondroitin sulfate proteoglycan 2"	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2572C>A	5.37:g.82816697C>A	ENSP00000265077:p.Pro858Thr	808	0.37	3					82852453	312	45.09	257	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_Sushi,HMMSmart_SM00032,HMMPfam_Xlink,HMMSmart_SM00445,PatternScan_LINK_1,HMMPfam_Lectin_C,HMMSmart_SM00034,HMMSmart_SM00179,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_V-set,superfamily_Complement control module/SCR domain,superfamily_C-type lectin-like,PatternScan_EGF_CA,PatternScan_C_TYPE_LECTIN_1,superfamily_Immunoglobulin,superfamily_EGF/Laminin	p.P858T	ENST00000265077.3	37	c.2572	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	0.920	-0.716119	0.03206	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.24538	1.85;1.85;1.85	6.07	0.572	0.17357	.	0.932993	0.09061	N	0.854311	T	0.17704	0.0425	L	0.53249	1.67	0.09310	N	1	P;B	0.38597	0.639;0.307	B;B	0.31686	0.134;0.018	T	0.19712	-1.0297	10	0.31617	T	0.26	.	2.5439	0.04732	0.1376:0.5045:0.1215:0.2364	.	858;858	P13611-3;P13611	.;CSPG2_HUMAN	T	858;858;810	ENSP00000265077:P858T;ENSP00000342768:P858T;ENSP00000425959:P810T	ENSP00000265077:P858T	P	+	1	0	VCAN	82852453	0.002000	0.14202	0.004000	0.12327	0.089000	0.18198	-0.209000	0.09358	0.139000	0.18822	-0.150000	0.13652	CCA	-	NULL		0.403	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	protein_coding	OTTHUMT00000254092.3	C	NM_004385		82852453	1	no_errors	NM_004385.1	genbank	human	validated	54_36p	missense	SNP	0.008	A	A	82816697	C	A	82816697	3	1	151	1	0	0	0	0	1	0	0	0	17135	855	30	4	2594	4	VCAN	5	82816697	Missense_Mutation	SNP	C	TCGA-AB-2966-03A-01D-0739-09		82816697	98098563	4	1700											
WAC	51322	genome.wustl.edu	37	10	28824556	28824556	+	Silent	SNP	C	C	T			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr10:28824556C>T	ENST00000354911.4	+	3	305	c.144C>T	c.(142-144)gaC>gaT	p.D48D	WAC_ENST00000347934.4_Silent_p.D48D|WAC_ENST00000428935.1_Silent_p.D3D|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000375646.1_Silent_p.D3D|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375664.4_Silent_p.D3D	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	48					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.D48D(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGATGCGAGACGCCGGAGATC	0.448																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											102	102	102					10																	28824556		2203	4300	6503	28864562	SO:0001819	synonymous_variant	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.144C>T	10.37:g.28824556C>T		358	2.45	9		102	52.11	111	28864562	343	46.42	298	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Silent	SNP	HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain	p.D48	ENST00000354911.4	37	c.144	CCDS7159.1	10																																																																																			-	NULL		0.448	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	protein_coding	OTTHUMT00000047371.1	C	NM_100264		28864562	1	no_errors	NM_016628.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	28824556	C	T	28824556	2	4	151	1	0	0	0	0	0	0	0	1	17244	535	19	1		1	WAC	10	28824556	Silent	SNP	C	TCGA-AB-2966-03A-01D-0739-09		28824556	106710191	5	1701											
PLCE1	51196	genome.wustl.edu	37	10	95993941	95993941	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr10:95993941C>A	ENST00000371380.3	+	5	2321	c.2086C>A	c.(2086-2088)Cac>Aac	p.H696N	PLCE1_ENST00000371375.1_Missense_Mutation_p.H388N|PLCE1_ENST00000371385.3_Missense_Mutation_p.H388N|PLCE1_ENST00000260766.3_Missense_Mutation_p.H696N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	696	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)	p.H696N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACGTGCCCTGCACATCCCTGG	0.552																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											150	157	155					10																	95993941		2073	4201	6274	95983931	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.2086C>A	10.37:g.95993941C>A	ENSP00000360431:p.His696Asn	317	0	0					95983931	329	42.58	244	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.H696N	ENST00000371380.3	37	c.2086	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756883	0.31137	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.78	4.77	0.60923	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.055371	0.64402	D	0.000002	T	0.06917	0.0176	N	0.00289	-1.7	0.40213	D	0.977642	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.12156	0.007;0.003;0.002	T	0.37314	-0.9711	10	0.02654	T	1	.	11.7894	0.52061	0.363:0.637:0.0:0.0	.	696;388;696	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	696;696;388;388	ENSP00000260766:H696N;ENSP00000360431:H696N;ENSP00000360438:H388N;ENSP00000360426:H388N	ENSP00000260766:H696N	H	+	1	0	PLCE1	95983931	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.458000	0.73509	2.894000	0.99253	0.655000	0.94253	CAC	-	HMMPfam_RasGEF,HMMSmart_SM00147,superfamily_Ras GEF		0.552	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	C	NM_016341		95983931	1	no_errors	NM_016341.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	95993941	C	A	95993941	3	1	151	1	0	0	0	0	1	0	0	0	12034	710	25	4	2390	4	PLCE1	10	95993941	Missense_Mutation	SNP	C	TCGA-AB-2966-03A-01D-0739-09	67169385	95993941	39540806	6	1702											
SFXN2	118980	genome.wustl.edu	37	10	104489530	104489530	+	Silent	SNP	G	G	A	rs201849917		TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr10:104489530G>A	ENST00000369893.5	+	6	725	c.558G>A	c.(556-558)gcG>gcA	p.A186A		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	186				QMALSYFTATTTAVATAVGMNMLTKKAPPLVGRWVPFAAVA AANCVNIPMMRQQELIKGI -> KRRPWWAAGCPLPLWLRL TVSISP (in Ref. 4). {ECO:0000305}.	iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)	p.A186A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGTGGCTGCGGCTAACTGTG	0.542											OREG0020485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10						G		1,4405	2.1+/-5.4	0,1,2202	75	81	79		558	-11.4	0.1	10		79	0,8600		0,0,4300	no	coding-synonymous	SFXN2	NM_178858.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		186/323	104489530	1,13005	2203	4300	6503	104479520	SO:0001819	synonymous_variant	0			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"Sideroflexins"	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.558G>A	10.37:g.104489530G>A		207	0	0	1382	4	33.33	2	104479520	179	47.41	165	Q5JSM6	Silent	SNP	HMMPfam_Mtc	p.A186	ENST00000369893.5	37	c.558	CCDS7539.1	10																																																																																			-	HMMPfam_Mtc		0.542	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	protein_coding	OTTHUMT00000050096.2	G	XM_058359		104479520	1	no_errors	NM_178858.4	genbank	human	validated	54_36p	silent	SNP	0.885	A	A	104489530	G	A	104489530	2	1	151	1	0	0	0	0	0	0	0	1	14195	1103	39	1		1	SFXN2	10	104489530	Silent	SNP	G	TCGA-AB-2966-03A-01D-0739-09	8495589	104489530	31045217	7	1703											
KRAS	3845	genome.wustl.edu	37	12	25378562	25378562	+	Missense_Mutation	SNP	C	C	T	rs121913527		TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr12:25378562C>T	ENST00000256078.4	-	4	499	c.436G>A	c.(436-438)Gca>Aca	p.A146T	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000311936.3_Missense_Mutation_p.A146T|KRAS_ENST00000557334.1_Intron	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A146T(75)|p.A146P(7)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGTCTTTGCTGATGTTTCA	0.323	A146T(AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|A146T(LS1034_LARGE_INTESTINE)|A146T(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	82	Substitution - Missense(82)	large_intestine(69)|haematopoietic_and_lymphoid_tissue(11)|lung(2)	12											207	188	195					12																	25378562		2203	4300	6503	25269829	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.436G>A	12.37:g.25378562C>T	ENSP00000256078:p.Ala146Thr	197	1.01	2		26	27.78	10	25269829	289	39.08	186	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A146T	ENST00000256078.4	37	c.436	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.234460	0.95207	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88741	-2.42;-2.42	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.96639	0.8903	H	0.97131	3.945	0.80722	D	1	D;D	0.89917	1.0;0.963	D;P	0.76071	0.987;0.876	D	0.97524	1.0075	10	0.72032	D	0.01	.	18.7849	0.91951	0.0:1.0:0.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	T	146	ENSP00000308495:A146T;ENSP00000256078:A146T	ENSP00000256078:A146T	A	-	1	0	KRAS	25269829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.762000	0.85270	2.757000	0.94681	0.585000	0.79938	GCA	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.323	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25269829	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25378562	C	T	25378562	3	4	151	1	0	0	0	0	1	0	0	0	8438	797	28	2	262	2	KRAS	12	25378562	Missense_Mutation	SNP	C	TCGA-AB-2966-03A-01D-0739-09		25378562	108473333	8	1704											
FAM123A	219287	genome.wustl.edu	37	13	25743843	25743843	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr13:25743843T>G	ENST00000515384.1	-	1	2582	c.1915A>C	c.(1915-1917)Atc>Ctc	p.I639L	AMER2_ENST00000381853.3_Missense_Mutation_p.I520L|AMER2_ENST00000357816.2_Missense_Mutation_p.I520L			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	639					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.I520L(1)									GAAACCGGGATTTTTGTTCTG	0.557																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											95	95	95					13																	25743843		2203	4300	6503	24641843	SO:0001583	missense	0			AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"-"	26360	protein-coding gene	gene with protein product		614659	"family with sequence similarity 123A"	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1915A>C	13.37:g.25743843T>G	ENSP00000426528:p.Ile639Leu	222	0.89	2					24641843	250	45.3	207	Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	HMMPfam_WTX	p.I639L	ENST00000515384.1	37	c.1915	CCDS53859.1	13	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416191	0.83449	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.43688	1.0;1.0;0.94	5.97	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.42086	0.1187	L	0.27053	0.805	0.48975	D	0.999734	P;P	0.50272	0.89;0.933	P;P	0.52454	0.503;0.699	T	0.37009	-0.9724	10	0.72032	D	0.01	-8.7412	11.8905	0.52626	0.1306:0.0:0.0:0.8694	.	639;520	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	L	520;520;639	ENSP00000350469:I520L;ENSP00000371277:I520L;ENSP00000426528:I639L	ENSP00000350469:I520L	I	-	1	0	FAM123A	24641843	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.688000	0.68227	1.055000	0.40461	0.533000	0.62120	ATC	-	NULL		0.557	AMER2-002	KNOWN	basic|CCDS	protein_coding	FAM123A	protein_coding	OTTHUMT00000370229.1	T	NM_152704		24641843	-1	no_errors	NM_152704.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	25743843	T	G	25743843	3	3	151	1	0	0	0	0	1	0	0	0	5422	1493	52	5	104	5	FAM123A	13	25743843	Missense_Mutation	SNP	T	TCGA-AB-2966-03A-01D-0739-09		25743843	89426035	9	1705											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	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	103	103					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	121	0	0		181	45.15	149	88432938	103	42.13	75	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	T	90631934	C	T	90631934	3	4	151	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2966-03A-01D-0739-09		90631934	11899458	10	1706											
DNAJA3	9093	genome.wustl.edu	37	16	4500470	4500470	+	Silent	SNP	G	G	A			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr16:4500470G>A	ENST00000262375.6	+	10	1388	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	DNAJA3_ENST00000431375.2_Silent_p.T284T|DNAJA3_ENST00000355296.4_Silent_p.T437T	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	437					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)	p.T437T(1)		NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TGGAGGGGACGGTGAACGGCG	0.622																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	16											46	37	40					16																	4500470		2197	4298	6495	4440471	SO:0001819	synonymous_variant	0			AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"Heat shock proteins / DNAJ (HSP40)"	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1311G>A	16.37:g.4500470G>A		142	2.74	4		23	42.5	17	4440471	103	46.63	90	B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Silent	SNP	HMMPfam_DnaJ_CXXCXGXG,superfamily_HSP_DnaJ_cys-rich,HMMPfam_DnaJ,HMMSmart_DnaJ,superfamily_DnaJ_N,HMMPfam_DnaJ_C,superfamily_HSP40_DnaJ_pep,PatternScan_DNAJ_1	p.T437	ENST00000262375.6	37	c.1311	CCDS10515.1	16																																																																																			-	NULL		0.622	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNAJA3	protein_coding	OTTHUMT00000251633.1	G			4440471	1	no_errors	NM_005147.1	genbank	human	validated	54_36p	silent	SNP	0.515	A	A	4500470	G	A	4500470	2	1	151	1	0	0	0	0	0	0	0	1	4613	1103	39	1		1	DNAJA3	16	4500470	Silent	SNP	G	TCGA-AB-2966-03A-01D-0739-09		4500470	85854283	11	1707											
SMG1	23049	genome.wustl.edu	37	16	18852979	18852979	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr16:18852979A>T	ENST00000446231.2	-	41	7016	c.6604T>A	c.(6604-6606)Tca>Aca	p.S2202T	SMG1_ENST00000389467.3_Missense_Mutation_p.S2202T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2202	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S2198T(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATTAGTCCTGATCTTGTTCCT	0.438																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16											238	225	229					16																	18852979		1952	4142	6094	18760480	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"phosphatidylinositol 3-kinase-related kinase"	607032	"smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.6604T>A	16.37:g.18852979A>T	ENSP00000402515:p.Ser2202Thr	1003	1.47	15		38	43.28	29	18760480	265	51.09	281	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	HMMPfam_HEAT,HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,HMMPfam_FATC,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PI3_4_KINASE_2	p.S2202T	ENST00000446231.2	37	c.6604	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502896	0.85176	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	D;D	0.81579	-1.51;-1.51	5.48	5.48	0.80851	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.56097	D	0.000036	D	0.88800	0.6535	M	0.72479	2.2	0.45837	D	0.9987	D;D	0.57257	0.974;0.979	D;D	0.74023	0.953;0.982	D	0.89783	0.3962	10	0.66056	D	0.02	.	15.8631	0.79040	1.0:0.0:0.0:0.0	.	2062;2202	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	T	2202	ENSP00000402515:S2202T;ENSP00000374118:S2202T	ENSP00000374118:S2202T	S	-	1	0	SMG1	18760480	1.000000	0.71417	0.977000	0.42913	0.998000	0.95712	9.212000	0.95126	2.198000	0.70561	0.533000	0.62120	TCA	-	HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,superfamily_Protein kinase-like (PK-like)		0.438	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	protein_coding	OTTHUMT00000391817.1	A	NM_015092		18760480	-1	no_errors	NM_015092.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	18852979	A	T	18852979	3	4	151	1	0	0	0	0	1	0	0	0	14795	333	12	5	4473	5	SMG1	16	18852979	Missense_Mutation	SNP	A	TCGA-AB-2966-03A-01D-0739-09	14352509	18852979	71501774	12	1708											
AP1M1	8907	genome.wustl.edu	37	19	16337261	16337261	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr19:16337261C>G	ENST00000291439.3	+	6	1025	c.576C>G	c.(574-576)agC>agG	p.S192R	AP1M1_ENST00000429941.2_Missense_Mutation_p.S192R|AP1M1_ENST00000444449.2_Missense_Mutation_p.S204R|AP1M1_ENST00000590756.1_Missense_Mutation_p.S120R|AP1M1_ENST00000541844.1_Missense_Mutation_p.S120R	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	192	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)		p.S192R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						TCCTGCGCAGCGAGATCGTGG	0.642																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											53	34	41					19																	16337261		2198	4298	6496	16198261	SO:0001583	missense	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.576C>G	19.37:g.16337261C>G	ENSP00000291439:p.Ser192Arg	35	0	0		24	41.46	17	16198261	77	47.62	70	Q4TTY5	Missense_Mutation	SNP	HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor,superfamily_SNARE-like,PatternScan_CLAT_ADAPTOR_M_1,PatternScan_CLAT_ADAPTOR_M_2	p.S192R	ENST00000291439.3	37	c.576	CCDS12342.1	19	.	.	.	.	.	.	.	.	.	.	C	13.33	2.203875	0.38905	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	3.97	-7.26	0.01466	Clathrin adaptor, mu subunit, C-terminal (3);	0.040832	0.85682	D	0.000000	T	0.53481	0.1799	H	0.97587	4.035	0.54753	D	0.99998	D;D;D	0.63880	0.993;0.993;0.993	D;D;D	0.72982	0.966;0.967;0.979	T	0.72763	-0.4195	10	0.87932	D	0	-22.6341	15.0647	0.71983	0.0:0.2077:0.0:0.7923	.	192;204;192	E7ENJ6;Q4TTY5;Q9BXS5	.;.;AP1M1_HUMAN	R	204;192;120;192	ENSP00000388996:S204R;ENSP00000291439:S192R;ENSP00000445682:S120R;ENSP00000411498:S192R	ENSP00000291439:S192R	S	+	3	2	AP1M1	16198261	0.011000	0.17503	0.883000	0.34634	0.017000	0.09413	-1.157000	0.03157	-1.313000	0.02303	-1.010000	0.02471	AGC	-	HMMPfam_Adap_comp_sub,superfamily_Second domain of Mu2 adaptin subunit (ap50) of ap2 adaptor		0.642	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	protein_coding	OTTHUMT00000460492.1	C	NM_032493		16198261	1	no_errors	NM_032493.1	genbank	human	reviewed	54_36p	missense	SNP	0.996	G	G	16337261	C	G	16337261	3	3	151	1	0	0	0	0	1	0	0	0	734	767	27	4	638	4	AP1M1	19	16337261	Missense_Mutation	SNP	C	TCGA-AB-2966-03A-01D-0739-09		16337261	42791722	13	1709											
SIGLEC1	6614	genome.wustl.edu	37	20	3684541	3684541	+	Missense_Mutation	SNP	C	C	T	rs201660736		TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr20:3684541C>T	ENST00000344754.4	-	4	903	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.V302I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	302	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V302I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CAGGTGTAGACGCCAGCATCG	0.587													C|||	1	0.000199681	8e-04	0	5008	,	,		20399	0		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20						C	ILE/VAL	0,4406		0,0,2203	75	57	63		904	-1.9	0.2	20		63	1,8599	1.2+/-3.3	0,1,4299	no	missense	SIGLEC1	NM_023068.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	302/1710	3684541	1,13005	2203	4300	6503	3632541	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"CD molecules", "Sialic acid binding Ig-like lectins", "Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	11127	protein-coding gene	gene with protein product		600751	"sialoadhesin"	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.904G>A	20.37:g.3684541C>T	ENSP00000341141:p.Val302Ile	143	0	0					3632541	160	37.07	96	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_Immunoglobulin	p.V302I	ENST00000344754.4	37	c.904	CCDS13060.1	20	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465813	0.43839	0.0	1.16E-4	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.12361	2.69;2.69	5.26	-1.91	0.07641	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.528227	0.14257	N	0.331089	T	0.07593	0.0191	N	0.24115	0.695	0.09310	N	1	B;B;B	0.19817	0.039;0.026;0.039	B;B;B	0.18263	0.012;0.021;0.012	T	0.30416	-0.9979	10	0.37606	T	0.19	.	6.774	0.23609	0.0:0.4362:0.1452:0.4186	.	302;302;302	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	I	302	ENSP00000341141:V302I;ENSP00000202578:V302I	ENSP00000202578:V302I	V	-	1	0	SIGLEC1	3632541	0.000000	0.05858	0.167000	0.22817	0.654000	0.38779	-0.380000	0.07427	-0.226000	0.09899	0.655000	0.94253	GTC	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_ig,superfamily_Immunoglobulin		0.587	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	protein_coding	OTTHUMT00000077761.2	C	NM_023068		3632541	-1	no_errors	NM_023068.3	genbank	human	reviewed	54_36p	missense	SNP	0.657	T	T	3684541	C	T	3684541	3	4	151	1	0	0	0	0	1	0	0	0	14305	536	19	1	4297	1	SIGLEC1	20	3684541	Missense_Mutation	SNP	C	TCGA-AB-2966-03A-01D-0739-09		3684541	59340979	14	1710											
TOP3B	8940	genome.wustl.edu	37	22	22328852	22328852	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr22:22328852A>G	ENST00000398793.2	-	3	513	c.79T>C	c.(79-81)Tcc>Ccc	p.S27P	TOP3B_ENST00000357179.5_Missense_Mutation_p.S27P|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	27	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.S27P(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTGTGTGAGGACAGGCTCCCT	0.612																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	22											77	56	63					22																	22328852		2203	4300	6503	20658852	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.79T>C	22.37:g.22328852A>G	ENSP00000381773:p.Ser27Pro	123	3.15	4		7	72	18	20658852	100	42.86	75	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	PatternScan_TOPOISOMERASE_I_PROK,superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMSmart_SM00437,HMMSmart_SM00493,HMMPfam_Toprim,HMMPfam_Topoisom_bac	p.S27P	ENST00000398793.2	37	c.79	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321816	0.81580	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000449517;ENST00000424393;ENST00000437929;ENST00000430142;ENST00000456075;ENST00000449704;ENST00000442653;ENST00000437103	T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93	6.07	4.98	0.66077	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);	0.062069	0.64402	D	0.000002	T	0.43722	0.1260	M	0.79258	2.445	0.80722	D	1	P	0.48834	0.916	P	0.54026	0.74	T	0.42207	-0.9465	10	0.56958	D	0.05	0.0519	12.2963	0.54849	0.8732:0.0:0.0:0.1268	.	27	O95985	TOP3B_HUMAN	P	27	ENSP00000349705:S27P;ENSP00000381773:S27P;ENSP00000390977:S27P;ENSP00000402622:S27P;ENSP00000414538:S27P	ENSP00000349705:S27P	S	-	1	0	TOP3B	20658852	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	1.310000	0.33551	2.326000	0.78906	0.533000	0.62120	TCC	-	superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00493,HMMPfam_Toprim		0.612	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	protein_coding	OTTHUMT00000320251.1	A	NM_003935		20658852	-1	no_errors	NM_003935.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	22328852	A	G	22328852	3	3	151	1	0	0	0	0	1	0	0	0	16365	275	10	3	2573	3	TOP3B	22	22328852	Missense_Mutation	SNP	A	TCGA-AB-2966-03A-01D-0739-09		22328852	28975714	15	1711											
RAB36	9609	genome.wustl.edu	37	22	23492294	23492294	+	Silent	SNP	C	C	T			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chr22:23492294C>T	ENST00000263116.2	+	3	352	c.312C>T	c.(310-312)caC>caT	p.H104H	RAB36_ENST00000341989.4_Silent_p.H104H	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	104					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.H104H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AGCACTTCCACGGGCAGGTCA	0.622																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	22											71	58	62					22																	23492294		2203	4300	6503	21822294	SO:0001819	synonymous_variant	0			AB023061	CCDS13805.1	22q11.22	2008-06-11			ENSG00000100228	ENSG00000100228		"RAB, member RAS oncogene"	9775	protein-coding gene	gene with protein product		605662				9920784, 10591208	Standard	NM_004914		Approved		uc002zwv.1	O95755	OTTHUMG00000150601	ENST00000263116.2:c.312C>T	22.37:g.23492294C>T		170	1.16	2					21822294	139	44.75	115	Q2M390|Q7Z4A9|Q9UHP5	Silent	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMSmart_SM00177,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.H104	ENST00000263116.2	37	c.312	CCDS13805.1	22																																																																																			-	NULL		0.622	RAB36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB36	protein_coding	OTTHUMT00000319046.1	C	NM_004914		21822294	1	no_errors	NM_004914.2	genbank	human	validated	54_36p	silent	SNP	0.967	T	T	23492294	C	T	23492294	2	4	151	1	0	0	0	0	0	0	0	1	12926	535	19	1		1	RAB36	22	23492294	Silent	SNP	C	TCGA-AB-2966-03A-01D-0739-09	1163442	23492294	27812272	16	1712											
HCFC1	3054	genome.wustl.edu	37	X	153230156	153230156	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2966-03A-01D-0739-09	TCGA-AB-2966-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	ea13b395-dade-4e11-bedf-a1f36bccfab7	8b0f12c9-65dd-4a1e-9bba-ace290edfddc	g.chrX:153230156G>A	ENST00000310441.7	-	2	1181	c.215C>T	c.(214-216)cCa>cTa	p.P72L	HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000354233.3_Missense_Mutation_p.P72L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P72L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	72					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCACGGCTGGGATGAACCA	0.592											OREG0003629	type=REGULATORY REGION|Gene=HCFC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0			X											63	70	67					X																	153230156		2101	4192	6293	152883350	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"VP16-accessory protein", "protein phosphatase 1, regulatory subunit 89"	300019	"mental retardation, X-linked 3", "host cell factor C1 (VP16-accessory protein)"	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.215C>T	X.37:g.153230156G>A	ENSP00000309555:p.Pro72Leu	173	1.14	2	1754	25	81.75	112	152883350	133	46.18	115	Q6P4G5	Missense_Mutation	SNP	HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Kelch_1,superfamily_Fibronectin type III,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_2	p.P72L	ENST00000310441.7	37	c.215	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957903	0.92726	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.61859	0.07;0.07;0.24	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.71134	0.3304	L	0.46614	1.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.73145	-0.4075	10	0.62326	D	0.03	.	16.9947	0.86363	0.0:0.0:1.0:0.0	.	72	P51610	HCFC1_HUMAN	L	72	ENSP00000309555:P72L;ENSP00000359001:P72L;ENSP00000346174:P72L	ENSP00000309555:P72L	P	-	2	0	HCFC1	152883350	1.000000	0.71417	0.987000	0.45799	0.853000	0.48598	9.321000	0.96353	2.276000	0.75962	0.468000	0.43344	CCA	-	superfamily_Galactose oxidase central domain		0.592	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	protein_coding	OTTHUMT00000061099.4	G	NM_005334		152883350	-1	no_errors	NM_005334.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	153230156	G	A	153230156	3	1	151	1	0	0	0	0	1	0	0	0	6991	1348	47	2	5992	2	HCFC1	23	153230156	Missense_Mutation	SNP	G	TCGA-AB-2966-03A-01D-0739-09		153230156	2040404	17	1713											
NRAS	4893	genome.wustl.edu	37	1	115258744	115258744	+	Missense_Mutation	SNP	C	C	T	rs121434596		TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr1:115258744C>T	ENST00000369535.4	-	2	291	c.38G>A	c.(37-39)gGt>gAt	p.G13D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in ALPS4). {ECO:0000269|PubMed:17517660}.|G -> R (in CMNS and colorectal cancer; somatic mutation). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:3102434}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(188)|p.G13V(56)|p.G13A(16)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCCCAACACCACCTGCTCC	0.498	G13D(HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13V(AML193_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	262	Substitution - Missense(262)	haematopoietic_and_lymphoid_tissue(217)|skin(36)|thyroid(2)|large_intestine(2)|soft_tissue(2)|central_nervous_system(1)|endometrium(1)|NS(1)	1	GRCh37	CM071907	NRAS	M	rs121434596						208	185	193					1																	115258744		2203	4300	6503	115060267	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.38G>A	1.37:g.115258744C>T	ENSP00000358548:p.Gly13Asp	1990	8.49	185		22	12	3	115060267	643	45.98	549	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G13D	ENST00000369535.4	37	c.38	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048221	0.93740	.	.	ENSG00000213281	ENST00000369535	T	0.72942	-0.7	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000022	T	0.79644	0.4481	M	0.92604	3.325	0.80722	D	1	B	0.33964	0.434	B	0.42319	0.383	T	0.81673	-0.0826	10	0.62326	D	0.03	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	13	P01111	RASN_HUMAN	D	13	ENSP00000358548:G13D	ENSP00000358548:G13D	G	-	2	0	NRAS	115060267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.498	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060267	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115258744	C	T	115258744	3	4	152	1	0	0	0	0	1	0	0	0	10640	507	18	2	547	2	NRAS	1	115258744	Missense_Mutation	SNP	C	TCGA-AB-2967-03A-01D-0739-09		115258744	133991877	1	1714											
SEMA4A	64218	genome.wustl.edu	37	1	156126203	156126204	+	Splice_Site	DEL	AG	AG	-			TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	AG	AG	AG	-	AG	AG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr1:156126203_156126204delAG	ENST00000368285.3	+	3	406		c.e3-1		SEMA4A_ENST00000355014.2_Splice_Site|SEMA4A_ENST00000368286.2_Splice_Site|SEMA4A_ENST00000368284.1_Splice_Site|SEMA4A_ENST00000368282.1_Splice_Site	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CTCCTCCAACAGGGGATGAACG	0.545																																						dbGAP											0			1																																								154392828	SO:0001630	splice_region_variant	0			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"Semaphorins"	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.140-1AG>-	1.37:g.156126203_156126204delAG		0	7.02	160		0	12.5	2	154392827	0	43.4	240	B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Splice_Site	DEL	-	e2-1	ENST00000368285.3	37	c.140-2_140-1	CCDS1132.1	1																																																																																			-	-		0.545	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4A	protein_coding	OTTHUMT00000039484.2	AG	NM_022367	Intron	154392828	1	no_errors	NM_022367.2	genbank	human	provisional	54_36p	splice_site_del	DEL	0.852:0.849	-	-	156126204	AG	-	156126203	8	5	152	1	0	1	0	1	0	0	1	0	14031	202	7	0	144	0	SEMA4A	1	156126203	Splice_Site	DEL	AG	TCGA-AB-2967-03A-01D-0739-09	40867459	156126203	93124418	2	1715											
DNMT3A	1788	genome.wustl.edu	37	2	25468163	25468163	+	Nonsense_Mutation	SNP	C	C	A	rs373860660		TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr2:25468163C>A	ENST00000264709.3	-	13	1850	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.E505*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.E282*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.E316*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	505	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.E505*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGGGGTGTTCCAGGGTAACA	0.622			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	2						C	stop/GLU,stop/GLU,stop/GLU	0,4406		0,0,2203	93	90	91		1513,946,1513	5.3	1	2		91	1,8599		0,1,4299	no	stop-gained,stop-gained,stop-gained	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	,,	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	,,	505/913,316/724,505/913	25468163	1,13005	2203	4300	6503	25321667	SO:0001587	stop_gained	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1513G>T	2.37:g.25468163C>A	ENSP00000264709:p.Glu505*	664	6.57	47		8	46.67	7	25321667	113	54.22	135	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.E505*	ENST00000264709.3	37	c.1513	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	40	7.942861	0.98574	0.0	1.16E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.27	5.27	0.74061	.	0.051571	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-8.8259	16.4462	0.83935	0.0:1.0:0.0:0.0	.	.	.	.	X	316;505;505;282	.	ENSP00000264709:E505X	E	-	1	0	DNMT3A	25321667	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.975000	0.49281	2.735000	0.93741	0.655000	0.94253	GAA	-	NULL		0.622	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25321667	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	25468163	C	A	25468163	4	1	152	1	0	0	0	0	0	1	0	0	4676	864	30	4	1269	4	DNMT3A	2	25468163	Nonsense_Mutation	SNP	C	TCGA-AB-2967-03A-01D-0739-09		25468163	217731210	3	1716											
LRRC2	79442	genome.wustl.edu	37	3	46574399	46574399	+	Splice_Site	SNP	C	C	T			TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr3:46574399C>T	ENST00000395905.3	-	5	883	c.491G>A	c.(490-492)gGt>gAt	p.G164D	LRRC2_ENST00000296144.3_Splice_Site_p.G164D	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	164								p.G164D(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTCAAACAACCTGTCAGCAG	0.358																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											85	84	84					3																	46574399		2203	4300	6503	46549403	SO:0001630	splice_region_variant	0			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"leucine-rich repeat-containing 2"			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.491-1G>A	3.37:g.46574399C>T		1882	7.05	143					46549403	327	47.93	301	B2RDQ7|Q96LT5	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058	p.G164D	ENST00000395905.3	37	c.491	CCDS2741.1	3	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783812	0.70222	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.38401	1.14;1.14	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000001	T	0.46171	0.1379	M	0.71206	2.165	0.53688	D	0.999975	P	0.47484	0.896	P	0.46629	0.522	T	0.49826	-0.8898	10	0.54805	T	0.06	.	15.9442	0.79782	0.0:1.0:0.0:0.0	.	164	Q9BYS8	LRRC2_HUMAN	D	164	ENSP00000379241:G164D;ENSP00000296144:G164D	ENSP00000296144:G164D	G	-	2	0	LRRC2	46549403	1.000000	0.71417	0.953000	0.39169	0.940000	0.58332	6.525000	0.73795	2.707000	0.92482	0.563000	0.77884	GGT	-	superfamily_SSF52058		0.358	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC2	protein_coding	OTTHUMT00000257375.2	C		Missense_Mutation	46549403	-1	no_errors	NM_024512.3	genbank	human	validated	54_36p	missense	SNP	0.998	T	T	46574399	C	T	46574399	5	4	152	1	0	0	0	0	0	0	1	0	8976	521	18	2	644	2	LRRC2	3	46574399	Splice_Site	SNP	C	TCGA-AB-2967-03A-01D-0739-09		46574399	151448031	4	1717											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	152	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2967-03A-01D-0739-09		170837547	10077713	5	1718											
PHIP	55023	genome.wustl.edu	37	6	79664636	79664637	+	Frame_Shift_Ins	INS	-	-	T	rs376189362		TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr6:79664636_79664637insT	ENST00000275034.4	-	35	4114_4115	c.3947_3948insA	c.(3946-3948)tacfs	p.Y1316fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1316					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTTGAATATCGTAAGACTGGGC	0.351																																						dbGAP											0			6																																								79721356	SO:0001589	frameshift_variant	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"WD repeat domain containing", "DDB1 and CUL4 associated factors"	15673	protein-coding gene	gene with protein product	"DDB1 and CUL4 associated factor 14"	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3948dupA	6.37:g.79664637_79664637dupT	ENSP00000275034:p.Tyr1316fs	1645	6.48	114		16	23.81	5	79721355	578	44.26	459	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Ins	INS	HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00320,superfamily_YVTN repeat-like/Quinoprotein amine dehydrogenase,PatternScan_BROMODOMAIN_1,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.Y1316fs	ENST00000275034.4	37	c.3948_3947	CCDS4987.1	6																																																																																			-	superfamily_Bromodomain		0.351	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	protein_coding	OTTHUMT00000041297.2	-			79721356	-1	no_errors	NM_017934.5	genbank	human	validated	54_36p	frame_shift_ins	INS	0.845:0.914	T	T	79664637	-	T	79664636	7	5	152	1	0	1	1	0	0	0	0	0	11842	1140	40	0	1541	0	PHIP	6	79664636	Frame_Shift_Ins	INS	-	TCGA-AB-2967-03A-01D-0739-09		79664636	91450431	6	1719											
RAD21	5885	genome.wustl.edu	37	8	117868492	117868493	+	Frame_Shift_Ins	INS	-	-	G	rs369661655		TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr8:117868492_117868493insG	ENST00000297338.2	-	8	1136_1137	c.849_850insC	c.(847-852)cccgttfs	p.V284fs	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	284					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATTGGTTCAACGGGATCCACTG	0.361																																						dbGAP											0			8																																								117937674	SO:0001589	frameshift_variant	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.850dupC	8.37:g.117868495_117868495dupG	ENSP00000297338:p.Val284fs	676	7.27	53		0	100	1	117937673	237	38.28	147	A8K0E0|Q15001|Q99568	Frame_Shift_Ins	INS	HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N	p.V283fs	ENST00000297338.2	37	c.850_849	CCDS6321.1	8																																																																																			-	NULL		0.361	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	protein_coding	OTTHUMT00000381184.1	-	NM_006265		117937674	-1	no_errors	NM_006265.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:0.980	G	G	117868493	-	G	117868492	7	5	152	1	0	1	1	0	0	0	0	0	12981	536	19	0	1073	0	RAD21	8	117868492	Frame_Shift_Ins	INS	-	TCGA-AB-2967-03A-01D-0739-09		117868492	28495530	7	1720											
OR8A1	390275	genome.wustl.edu	37	11	124440298	124440298	+	Missense_Mutation	SNP	G	G	A	rs371661396		TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr11:124440298G>A	ENST00000284287.3	+	1	406	c.334G>A	c.(334-336)Gca>Aca	p.A112T		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	112					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A112T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CATCTCCTACGCAGGGTGCAT	0.473																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11						G	THR/ALA	1,4401	2.1+/-5.4	0,1,2200	175	154	161		334	0.9	0.8	11		161	0,8598		0,0,4299	no	missense	OR8A1	NM_001005194.1	58	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	benign	112/327	124440298	1,12999	2201	4299	6500	123945508	SO:0001583	missense	0			BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"GPCR / Class A : Olfactory receptors"	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.334G>A	11.37:g.124440298G>A	ENSP00000284287:p.Ala112Thr	2444	8.14	217					123945508	844	51.38	893	Q6IEW7|Q96RC6	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.A112T	ENST00000284287.3	37	c.334	CCDS31712.1	11	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666773	0.29604	2.27E-4	0.0	ENSG00000196119	ENST00000284287	T	0.00397	7.57	5.03	0.892	0.19230	GPCR, rhodopsin-like superfamily (1);	0.825771	0.10096	N	0.716602	T	0.00144	0.0004	N	0.10629	0.01	0.18873	N	0.999985	B	0.09022	0.002	B	0.09377	0.004	T	0.07366	-1.0776	10	0.14252	T	0.57	.	5.1886	0.15197	0.0755:0.1229:0.5499:0.2517	.	112	Q8NGG7	OR8A1_HUMAN	T	112	ENSP00000284287:A112T	ENSP00000284287:A112T	A	+	1	0	OR8A1	123945508	0.000000	0.05858	0.837000	0.33122	0.939000	0.58152	-2.715000	0.00815	0.688000	0.31529	0.650000	0.86243	GCA	-	HMMPfam_7tm_1,superfamily_SSF81321		0.473	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8A1	protein_coding	OTTHUMT00000387062.1	G	NM_001005194		123945508	1	no_errors	NM_001005194.1	genbank	human	provisional	54_36p	missense	SNP	0.008	A	A	124440298	G	A	124440298	3	1	152	1	0	0	0	0	1	0	0	0	11225	1087	38	1	336	1	OR8A1	11	124440298	Missense_Mutation	SNP	G	TCGA-AB-2967-03A-01D-0739-09		124440298	10566218	8	1721											
GRIP1	23426	genome.wustl.edu	37	12	66838485	66838485	+	Silent	SNP	G	G	A			TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr12:66838485G>A	ENST00000398016.3	-	12	1478	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	GRIP1_ENST00000286445.7_Silent_p.D522D|GRIP1_ENST00000359742.4_Silent_p.D522D	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.D470D(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCATCACTCTGTCTCCAATCT	0.468																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	12											124	118	120					12																	66838485		1955	4146	6101	65124752	SO:0001819	synonymous_variant	0			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1410C>T	12.37:g.66838485G>A		1289	10.72	155					65124752	554	51.4	587	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like	p.D470	ENST00000398016.3	37	c.1410	CCDS41807.1	12	.	.	.	.	.	.	.	.	.	.	G	8.687	0.906602	0.17833	.	.	ENSG00000155974	ENST00000538164	.	.	.	5.69	2.89	0.33648	.	.	.	.	.	T	0.60983	0.2311	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55179	-0.8181	4	.	.	.	-20.1828	10.8328	0.46669	0.1973:0.0:0.8027:0.0	.	.	.	.	I	337	.	.	T	-	2	0	GRIP1	65124752	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.918000	0.56432	0.350000	0.24002	0.539000	0.68188	ACA	-	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like		0.468	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIP1	protein_coding	OTTHUMT00000401975.2	G			65124752	-1	no_errors	NM_021150.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	66838485	G	A	66838485	2	1	152	1	0	0	0	0	0	0	0	1	6787	1368	48	2		2	GRIP1	12	66838485	Silent	SNP	G	TCGA-AB-2967-03A-01D-0739-09		66838485	67013410	9	1722											
FAM57B	83723	genome.wustl.edu	37	16	30037136	30037136	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr16:30037136G>A	ENST00000380495.4	-	4	1182	c.451C>T	c.(451-453)Cga>Tga	p.R151*	FAM57B_ENST00000564806.1_Nonsense_Mutation_p.R101*|FAM57B_ENST00000279389.4_Nonsense_Mutation_p.R101*	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	151	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.R151*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TTACCCTGTCGCCACACCTGG	0.602																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	16											98	94	96					16																	30037136		2197	4300	6497	29944637	SO:0001587	stop_gained	0			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.451C>T	16.37:g.30037136G>A	ENSP00000369863:p.Arg151*	467	9.81	51		0	100	1	29944637	89	45.83	77	Q9H0J1	Nonsense_Mutation	SNP	HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724	p.R151*	ENST00000380495.4	37	c.451	CCDS10667.2	16	.	.	.	.	.	.	.	.	.	.	G	41	8.979373	0.99023	.	.	ENSG00000149926	ENST00000380495	.	.	.	5.17	4.2	0.49525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-2.6091	12.0718	0.53620	0.0:0.0:0.6892:0.3108	.	.	.	.	X	151	.	ENSP00000369863:R151X	R	-	1	2	FAM57B	29944637	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	1.706000	0.37878	1.145000	0.42336	0.561000	0.74099	CGA	-	HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724		0.602	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57B	protein_coding	OTTHUMT00000255142.2	G	NM_031478		29944637	-1	no_errors	NM_031478.4	genbank	human	validated	54_36p	nonsense	SNP	1.000	A	A	30037136	G	A	30037136	4	1	152	1	0	0	0	0	0	1	0	0	5589	1095	38	1	381	1	FAM57B	16	30037136	Nonsense_Mutation	SNP	G	TCGA-AB-2967-03A-01D-0739-09		30037136	60317617	10	1723											
HYDIN	54768	genome.wustl.edu	37	16	70874027	70874027	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2967-03A-01D-0739-09	TCGA-AB-2967-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	60a69167-464f-4df2-a6f9-ed402ed58f76	b5babadf-7b10-45fc-8c93-5f68a08b07ed	g.chr16:70874027G>A	ENST00000393567.2	-	76	13133	c.12983C>T	c.(12982-12984)gCt>gTt	p.A4328V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4328					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.A4327V(1)|p.A4279V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGCATCCCAGCTTGATAGAT	0.478																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	16											4	4	4					16																	70874027		1464	3617	5081	69431528	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12983C>T	16.37:g.70874027G>A	ENSP00000377197:p.Ala4328Val	2183	3.74	85					69431528	1603	20.28	408	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A4327V	ENST00000393567.2	37	c.12980	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.161009	0.94727	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00949	5.51	5.59	5.59	0.84812	.	0.000000	0.32736	U	0.005714	T	0.04048	0.0113	M	0.62723	1.935	0.80722	D	1	D	0.56968	0.978	P	0.58266	0.836	T	0.53767	-0.8392	10	0.42905	T	0.14	.	19.1717	0.93580	0.0:0.0:1.0:0.0	.	4327	F8WD23	.	V	4328;4327	ENSP00000377197:A4328V	ENSP00000313052:A4327V	A	-	2	0	HYDIN	69431528	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	8.446000	0.90329	2.634000	0.89283	0.505000	0.49811	GCT	-	superfamily_PapD-like		0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	G			69431528	-1	no_errors	NM_032821.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	70874027	G	A	70874027	3	1	152	1	0	0	0	0	1	0	0	0	7467	971	34	2	2426	2	HYDIN	16	70874027	Missense_Mutation	SNP	G	TCGA-AB-2967-03A-01D-0739-09	40836891	70874027	19480726	11	1724											
NRAS	4893	genome.wustl.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	T	A	rs121913255		TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr1:115256528T>A	ENST00000369535.4	-	3	436	c.183A>T	c.(181-183)caA>caT	p.Q61H		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(100)|p.Q61Q(3)|p.Q61L(3)|p.Q61R(2)|p.Q61K(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTTCTTGTCCAGCTG	0.463	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	110	Substitution - Missense(106)|Substitution - coding silent(3)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(48)|skin(43)|soft_tissue(8)|thyroid(6)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|NS(1)	1											180	156	164					1																	115256528		2203	4300	6503	115058051	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.183A>T	1.37:g.115256528T>A	ENSP00000358548:p.Gln61His	474	0.63	3					115058051	336	22.6	99	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q61H	ENST00000369535.4	37	c.183	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.695276	0.68386	.	.	ENSG00000213281	ENST00000369535	D	0.84146	-1.81	5.08	3.93	0.45458	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.87026	0.6075	H	0.94385	3.53	0.80722	D	1	B	0.30763	0.294	B	0.42087	0.375	D	0.89247	0.3588	10	0.72032	D	0.01	.	5.8174	0.18500	0.0:0.1721:0.0:0.8279	.	61	P01111	RASN_HUMAN	H	61	ENSP00000358548:Q61H	ENSP00000358548:Q61H	Q	-	3	2	NRAS	115058051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.898000	0.28404	2.120000	0.65058	0.533000	0.62120	CAA	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.463	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	T	NM_002524		115058051	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	115256528	T	A	115256528	3	1	153	1	0	0	0	0	1	0	0	0	10640	1606	56	5	398	5	NRAS	1	115256528	Missense_Mutation	SNP	T	TCGA-AB-2968-03A-01D-0739-09		115256528	133994093	1	1725											
DNMT3A	1788	genome.wustl.edu	37	2	25463271	25463271	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr2:25463271G>A	ENST00000264709.3	-	19	2559	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	741	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.A741V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCCGCGCATCATGCAG	0.572			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											83	78	79					2																	25463271		2203	4300	6503	25316775	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2222C>T	2.37:g.25463271G>A	ENSP00000264709:p.Ala741Val	212	0.47	1					25316775	143	47.83	132	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.A741V	ENST00000264709.3	37	c.2222	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132405	0.77662	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92	5.38	5.38	0.77491	.	0.047415	0.85682	D	0.000000	D	0.91123	0.7205	N	0.15975	0.35	0.80722	D	1	P;D	0.69078	0.956;0.997	B;B	0.43889	0.256;0.435	D	0.91733	0.5398	10	0.41790	T	0.15	-11.9058	17.6755	0.88229	0.0:0.0:1.0:0.0	.	741;552	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	V	552;741;741;518	ENSP00000370122:A552V;ENSP00000324375:A741V;ENSP00000264709:A741V;ENSP00000384237:A518V	ENSP00000264709:A741V	A	-	2	0	DNMT3A	25316775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.540000	0.85666	0.561000	0.74099	GCG	-	HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.572	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25316775	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25463271	G	A	25463271	3	1	153	1	0	0	0	0	1	0	0	0	4676	1087	38	1	536	1	DNMT3A	2	25463271	Missense_Mutation	SNP	G	TCGA-AB-2968-03A-01D-0739-09		25463271	217736102	2	1726											
DNMT3A	1788	genome.wustl.edu	37	2	25469029	25469029	+	Splice_Site	SNP	C	C	A			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr2:25469029C>A	ENST00000264709.3	-	11	1766	c.1429G>T	c.(1429-1431)Gag>Tag	p.E477*	DNMT3A_ENST00000380746.4_Splice_Site_p.E288*|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Splice_Site_p.E477*|DNMT3A_ENST00000402667.1_Splice_Site_p.E254*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	477					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.E477*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAACTACCTCTTGTGCGC	0.627			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	2											134	128	130					2																	25469029		2203	4300	6503	25322533	SO:0001630	splice_region_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1429+1G>T	2.37:g.25469029C>A		179	0.56	1					25322533	156	40	104	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.E477*	ENST00000264709.3	37	c.1429	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.570793	0.98868	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	5.42	5.42	0.78866	.	0.108387	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0638	17.0771	0.86589	0.0:1.0:0.0:0.0	.	.	.	.	X	288;477;477;254	.	.	E	-	1	0	DNMT3A	25322533	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.165000	0.77544	2.700000	0.92200	0.643000	0.83706	GAG	-	NULL		0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552	Nonsense_Mutation	25322533	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	25469029	C	A	25469029	5	1	153	1	0	0	0	0	0	0	1	0	4676	695	24	4	1361	4	DNMT3A	2	25469029	Splice_Site	SNP	C	TCGA-AB-2968-03A-01D-0739-09	5758	25469029	217730344	3	1727											
CCNG2	901	genome.wustl.edu	37	4	78087044	78087044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr4:78087044delC	ENST00000316355.5	+	8	1358	c.1002delC	c.(1000-1002)ttcfs	p.F334fs	CCNG2_ENST00000502280.1_Frame_Shift_Del_p.F334fs|CCNG2_ENST00000497512.1_Intron|CCNG2_ENST00000395640.1_Frame_Shift_Del_p.F334fs|CCNG2_ENST00000354403.5_Intron	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	334					cell cycle checkpoint (GO:0000075)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)		p.F334F(1)		breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTCAACTTCAAAGTGGCAC	0.403																																						dbGAP											1	Substitution - coding silent(1)	ovary(1)	4											103	101	102					4																	78087044		2203	4300	6503	78306068	SO:0001589	frameshift_variant	0			BC032518	CCDS3581.1	4q21.22	2009-05-07			ENSG00000138764	ENSG00000138764			1593	protein-coding gene	gene with protein product		603203				8806701	Standard	NM_004354		Approved		uc003hkq.4	Q16589	OTTHUMG00000130100	ENST00000316355.5:c.1002delC	4.37:g.78087044delC	ENSP00000315743:p.Phe334fs	551	1.78	10					78306068	254	40.44	184	B4DF25|Q6FGA7|Q6FGC6	Frame_Shift_Del	DEL	HMMSmart_SM00385,HMMPfam_Cyclin_N,superfamily_Cyclin-like	p.F334fs	ENST00000316355.5	37	c.1002	CCDS3581.1	4																																																																																			-	NULL		0.403	CCNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNG2	protein_coding	OTTHUMT00000252404.3	C	NM_004354		78306068	1	no_errors	NM_004354.2	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.971	-	-	78087044	C	-	78087044	7	5	153	1	0	1	0	1	0	0	0	0	2924	825	29	0	1028	0	CCNG2	4	78087044	Frame_Shift_Del	DEL	C	TCGA-AB-2968-03A-01D-0739-09		78087044	113067232	4	1728											
DDX60	55601	genome.wustl.edu	37	4	169141819	169141819	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr4:169141819T>C	ENST00000393743.3	-	37	5317	c.5026A>G	c.(5026-5028)Att>Gtt	p.I1676V		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1676					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.I1676V(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATAGATTTAATGGTGAGTGCA	0.234																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	4											25	26	26					4																	169141819		2183	4284	6467	169378394	SO:0001583	missense	0			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.5026A>G	4.37:g.169141819T>C	ENSP00000377344:p.Ile1676Val	466	1.68	8					169378394	113	42.93	85	Q6PK35|Q9NVE3	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.I1676V	ENST00000393743.3	37	c.5026	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	T	12.83	2.056589	0.36277	.	.	ENSG00000137628	ENST00000393743	T	0.19250	2.16	4.8	-4.93	0.03066	.	0.253891	0.27092	N	0.020972	T	0.19765	0.0475	L	0.57536	1.79	0.09310	N	1	B;P	0.47677	0.005;0.899	B;P	0.47528	0.007;0.549	T	0.10042	-1.0647	10	0.51188	T	0.08	.	6.7367	0.23413	0.0:0.2921:0.2831:0.4248	.	1676;168	Q8IY21;Q9NT91	DDX60_HUMAN;.	V	1676	ENSP00000377344:I1676V	ENSP00000377344:I1676V	I	-	1	0	DDX60	169378394	0.018000	0.18449	0.000000	0.03702	0.781000	0.44180	-0.097000	0.11042	-0.597000	0.05813	-0.605000	0.04089	ATT	-	NULL		0.234	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	protein_coding	OTTHUMT00000364622.1	T	NM_017631		169378394	-1	no_errors	NM_017631.5	genbank	human	validated	54_36p	missense	SNP	0.362	C	C	169141819	T	C	169141819	3	2	153	1	0	0	0	0	1	0	0	0	4378	1464	51	3	120	3	DDX60	4	169141819	Missense_Mutation	SNP	T	TCGA-AB-2968-03A-01D-0739-09	91054775	169141819	22012457	5	1729											
NIPBL	25836	genome.wustl.edu	37	5	37064105	37064105	+	Intron	SNP	A	A	G			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr5:37064105A>G	ENST00000282516.8	+	46	8548				NIPBL_ENST00000448238.2_Missense_Mutation_p.I2692V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.I2692V(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAGTCAACGTATTTCGCAGCG	0.388																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											197	214	208					5																	37064105		2203	4300	6503	37099862	SO:0001627	intron_variant	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"sister chromatid cohesion 2 homolog (yeast)"	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8049+25A>G	5.37:g.37064105A>G		312	2.19	7					37099862	197	43.06	149	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.I2692V	ENST00000282516.8	37	c.8074	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	8.452	0.853269	0.17106	.	.	ENSG00000164190	ENST00000448238	D	0.92595	-3.07	5.5	5.5	0.81552	.	.	.	.	.	T	0.82079	0.4959	N	0.08118	0	0.21802	N	0.99953	B	0.32968	0.392	B	0.25291	0.059	T	0.70641	-0.4816	8	.	.	.	.	14.1728	0.65522	1.0:0.0:0.0:0.0	.	2692	Q6KC79-2	.	V	2692	ENSP00000406266:I2692V	.	I	+	1	0	NIPBL	37099862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.800000	0.55537	2.088000	0.63022	0.482000	0.46254	ATT	-	NULL		0.388	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	protein_coding	OTTHUMT00000207582.1	A	NM_015384		37099862	1	no_errors	NM_015384.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	37064105	A	G	37064105	1	3	153	0	1	0	0	0	0	0	0	0	10428	449	16	3		3	NIPBL	5	37064105	Intron	SNP	A	TCGA-AB-2968-03A-01D-0739-09		37064105	143851155	6	1730											
EXOC2	55770	genome.wustl.edu	37	6	592581	592581	+	Silent	SNP	C	C	G			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr6:592581C>G	ENST00000230449.4	-	11	1215	c.1080G>C	c.(1078-1080)ctG>ctC	p.L360L	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	360					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L360L(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAAGGTCAGACAGGTACCTGA	0.433																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	6											96	84	88					6																	592581		2203	4300	6503	537581	SO:0001819	synonymous_variant	0			AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"SEC5-like 1 (S. cerevisiae)"	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.1080G>C	6.37:g.592581C>G		348	0.57	2					537581	180	41.37	127	B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Silent	SNP	HMMPfam_TIG,superfamily_Ig_E-set	p.L360	ENST00000230449.4	37	c.1080	CCDS34327.1	6																																																																																			-	NULL		0.433	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC2	protein_coding	OTTHUMT00000039627.1	C	NM_018303		537581	-1	no_errors	NM_018303.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	G	G	592581	C	G	592581	2	3	153	1	0	0	0	0	0	0	0	1	5302	465	17	4		4	EXOC2	6	592581	Silent	SNP	C	TCGA-AB-2968-03A-01D-0739-09		592581	170522486	7	1731											
FBXL18	80028	genome.wustl.edu	37	7	5540409	5540409	+	Silent	SNP	G	G	A	rs371160878		TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr7:5540409G>A	ENST00000382368.3	-	3	1614	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	FBXL18_ENST00000453700.3_Silent_p.S497S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	497								p.S497S(1)	FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGGCATGGCGGAGGAGAAGT	0.682																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	7						G		1,4203		0,1,2101	14	17	16		1491	-6.1	0.8	7		16	10,8428		0,10,4209	no	coding-synonymous	FBXL18	NM_024963.4		0,11,6310	AA,AG,GG		0.1185,0.0238,0.087		497/719	5540409	11,12631	2102	4219	6321	5506935	SO:0001819	synonymous_variant	0			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"F-boxes / Leucine-rich repeats"	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.1491C>T	7.37:g.5540409G>A		130	1.52	2					5506935	100	42.2	73	Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	NULL	p.R56C	ENST00000382368.3	37	c.166	CCDS43546.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.789|5.789	0.329975|0.329975	0.10956|0.10956	2.38E-4|2.38E-4	0.001185|0.001185	ENSG00000155034|ENSG00000155034	ENST00000458142|ENST00000297035	.|.	.|.	.|.	5.29|5.29	-6.12|-6.12	0.02124|0.02124	.|.	.|.	.|.	.|.	.|.	T|T	0.52629|0.52629	0.1746|0.1746	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.59467|0.59467	-0.7449|-0.7449	4|5	.|0.87932	.|D	.|0	.|.	3.4703|3.4703	0.07565|0.07565	0.5312:0.1728:0.1894:0.1066|0.5312:0.1728:0.1894:0.1066	.|.	.|.	.|.	.|.	L|C	381|57	.|.	.|ENSP00000297035:R57C	P|R	-|-	2|1	0|0	FBXL18|FBXL18	5506935|5506935	0.000000|0.000000	0.05858|0.05858	0.815000|0.815000	0.32552|0.32552	0.963000|0.963000	0.63663|0.63663	-4.391000|-4.391000	0.00241|0.00241	-1.283000|-1.283000	0.02393|0.02393	-0.225000|-0.225000	0.12378|0.12378	CCG|CGC	-	NULL		0.682	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	protein_coding	OTTHUMT00000324093.1	G	NM_024963		5506935	-1	no_errors	ENST00000297035	ensembl	human	known	54_36p	missense	SNP	0.174	A	A	5540409	G	A	5540409	2	1	153	1	0	0	0	0	0	0	0	1	5714	1103	39	1		1	FBXL18	7	5540409	Silent	SNP	G	TCGA-AB-2968-03A-01D-0739-09		5540409	153598254	8	1732											
COMMD5	28991	genome.wustl.edu	37	8	146076709	146076709	+	Silent	SNP	C	C	G			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr8:146076709C>G	ENST00000305103.3	-	2	267	c.15G>C	c.(13-15)ggG>ggC	p.G5G	COMMD5_ENST00000450361.2_Silent_p.G5G|COMMD5_ENST00000402718.3_Silent_p.G5G|AF235103.1_ENST00000578937.1_RNA|ZNF250_ENST00000543949.1_3'UTR	NM_014066.3	NP_054785.2	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	5						nucleus (GO:0005634)		p.G5G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GAGTTGCAGCCCCCACAGCAG	0.597																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	8											63	66	65					8																	146076709		2203	4300	6503	146047513	SO:0001819	synonymous_variant	0			AK023070	CCDS6436.1	8q24.3	2006-11-06				ENSG00000170619			17902	protein-coding gene	gene with protein product		608216				15799966, 10918053	Standard	NM_014066		Approved	HT002, FLJ13008, HCaRG	uc003zem.3	Q9GZQ3		ENST00000305103.3:c.15G>C	8.37:g.146076709C>G		169	3.43	6					146047513	103	41.14	72	D3DWN7|Q9NVN6|Q9UHX5	Silent	SNP	HMMPfam_HCaRG	p.G5	ENST00000305103.3	37	c.15	CCDS6436.1	8																																																																																			-	NULL		0.597	COMMD5-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	COMMD5	protein_coding	OTTHUMT00000382962.1	C	NM_014066		146047513	-1	no_errors	NM_001081003.1	genbank	human	validated	54_36p	silent	SNP	0.745	G	G	146076709	C	G	146076709	2	3	153	1	0	0	0	0	0	0	0	1	3719	610	22	4		4	COMMD5	8	146076709	Silent	SNP	C	TCGA-AB-2968-03A-01D-0739-09		146076709	287313	9	1733											
PTCH1	5727	genome.wustl.edu	37	9	98229498	98229498	+	Silent	SNP	G	G	A			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr9:98229498G>A	ENST00000331920.6	-	15	2759	c.2460C>T	c.(2458-2460)taC>taT	p.Y820Y	PTCH1_ENST00000375274.2_Silent_p.Y819Y|PTCH1_ENST00000430669.2_Silent_p.Y754Y|PTCH1_ENST00000421141.1_Silent_p.Y669Y|PTCH1_ENST00000418258.1_Silent_p.Y669Y|PTCH1_ENST00000437951.1_Silent_p.Y754Y|PTCH1_ENST00000429896.2_Silent_p.Y669Y	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	820					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.Y820Y(4)|p.Y819Y(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TGTGTAGGTCGTAAAGTAAGT	0.398																																						dbGAP											6	Substitution - coding silent(6)	large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)	9											190	179	182					9																	98229498		2203	4300	6503	97269319	SO:0001819	synonymous_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"patched (Drosophila) homolog", "patched homolog (Drosophila)", "patched homolog 1 (Drosophila)"	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2460C>T	9.37:g.98229498G>A		445	1.11	5					97269319	171	32.68	83	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	HMMPfam_Patched,superfamily_SSF82866	p.Y820	ENST00000331920.6	37	c.2460	CCDS6714.1	9																																																																																			-	HMMPfam_Patched		0.398	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	protein_coding	OTTHUMT00000053229.2	G	NM_000264		97269319	-1	no_errors	NM_000264.3	genbank	human	reviewed	54_36p	silent	SNP	0.971	A	A	98229498	G	A	98229498	2	1	153	1	0	0	0	0	0	0	0	1	12730	1140	40	1		1	PTCH1	9	98229498	Silent	SNP	G	TCGA-AB-2968-03A-01D-0739-09		98229498	42983933	10	1734											
PLCZ1	89869	genome.wustl.edu	37	12	18865835	18865835	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr12:18865835G>A	ENST00000266505.7	-	6	918	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L82F|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L217F					phospholipase C, zeta 1									p.L219F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTGCTTGTGAGTGTGTAGCCA	0.383																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											158	134	142					12																	18865835		2203	4300	6503	18757102	SO:0001583	missense	0			AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"EF-hand domain containing"	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000266505.7:c.655C>T	12.37:g.18865835G>A	ENSP00000266505:p.Leu219Phe	744	1.2	9					18757102	296	46.38	256		Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,superfamily_EF-hand	p.L219F	ENST00000266505.7	37	c.655	CCDS8680.1	12	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615982	0.46631	.	.	ENSG00000139151	ENST00000266505;ENST00000447925;ENST00000541695;ENST00000540421	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.26	5.19	3.31	0.37934	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.149249	0.46145	N	0.000313	T	0.61515	0.2353	L	0.55017	1.72	0.39775	D	0.972219	B	0.30482	0.281	B	0.38020	0.263	T	0.56432	-0.7980	10	0.30854	T	0.27	.	8.1764	0.31285	0.2862:0.0:0.7138:0.0	.	219	Q86YW0	PLCZ1_HUMAN	F	219;217;82;4	ENSP00000266505:L219F;ENSP00000402358:L217F;ENSP00000443349:L82F;ENSP00000445889:L4F	ENSP00000266505:L219F	L	-	1	0	PLCZ1	18757102	0.999000	0.42202	0.996000	0.52242	0.973000	0.67179	2.991000	0.49409	0.715000	0.32103	0.591000	0.81541	CTC	-	HMMPfam_PI-PLC-X,HMMSmart_SM00148,superfamily_PLC-like phosphodiesterases		0.383	PLCZ1-001	KNOWN	NAGNAG_splice_site|non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	PLCZ1	protein_coding	OTTHUMT00000401667.3	G	NM_033123		18757102	-1	no_errors	NM_033123.2	genbank	human	provisional	54_36p	missense	SNP	0.998	A	A	18865835	G	A	18865835	3	1	153	1	0	0	0	0	1	0	0	0	12044	1029	36	2	1211	2	PLCZ1	12	18865835	Missense_Mutation	SNP	G	TCGA-AB-2968-03A-01D-0739-09		18865835	114986060	11	1735											
EIF4B	1975	genome.wustl.edu	37	12	53413723	53413723	+	Silent	SNP	C	C	G			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr12:53413723C>G	ENST00000262056.9	+	4	716	c.390C>G	c.(388-390)ccC>ccG	p.P130P	EIF4B_ENST00000420463.3_Silent_p.P130P|RP11-983P16.4_ENST00000549388.1_RNA|EIF4B_ENST00000416762.3_Intron|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	130	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)	p.P130P(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CACGTGAACCCAGCAATCCAG	0.418																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	12											105	98	100					12																	53413723		1856	4091	5947	51699990	SO:0001819	synonymous_variant	0			X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"RNA binding motif (RRM) containing"	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.390C>G	12.37:g.53413723C>G		337	1.75	6					51699990	127	40.38	86	Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Silent	SNP	HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928	p.P130	ENST00000262056.9	37	c.390	CCDS41788.1	12																																																																																			-	HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928		0.418	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4B	protein_coding	OTTHUMT00000404852.2	C	NM_001417		51699990	1	no_errors	NM_001417.4	genbank	human	validated	54_36p	silent	SNP	1.000	G	G	53413723	C	G	53413723	2	3	153	1	0	0	0	0	0	0	0	1	5027	581	21	4		4	EIF4B	12	53413723	Silent	SNP	C	TCGA-AB-2968-03A-01D-0739-09	34547888	53413723	80438172	12	1736											
KSR2	283455	genome.wustl.edu	37	12	117922266	117922266	+	Missense_Mutation	SNP	G	G	A	rs563602140		TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr12:117922266G>A	ENST00000339824.5	-	16	3132	c.2405C>T	c.(2404-2406)aCg>aTg	p.T802M	KSR2_ENST00000425217.1_Missense_Mutation_p.T773M|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.T834M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAAGTCCGTGATGACCAC	0.542													G|||	1	0.000199681	8e-04	0	5008	,	,		19917	0		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											96	99	98					12																	117922266		2020	4190	6210	116406649	SO:0001583	missense	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2405C>T	12.37:g.117922266G>A	ENSP00000339952:p.Thr802Met	462	2.12	10					116406649	240	44.08	190	A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	HMMSmart_SM00219,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,superfamily_Cysteine-rich domain	p.T681M	ENST00000339824.5	37	c.2042		12	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000619	0.93227	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91314	0.7261	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.72032	D	0.01	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	802	Q6VAB6	KSR2_HUMAN	M	773;802	ENSP00000389715:T773M;ENSP00000339952:T802M	ENSP00000339952:T802M	T	-	2	0	KSR2	116406649	1.000000	0.71417	0.965000	0.40720	0.948000	0.59901	9.837000	0.99465	2.612000	0.88384	0.655000	0.94253	ACG	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.542	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	G	NM_173598		116406649	-1	no_errors	NM_173598.4	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	117922266	G	A	117922266	3	1	153	1	0	0	0	0	1	0	0	0	8582	1145	40	1	467	1	KSR2	12	117922266	Missense_Mutation	SNP	G	TCGA-AB-2968-03A-01D-0739-09	64508543	117922266	15929629	13	1737											
MTUS2	23281	genome.wustl.edu	37	13	29855919	29855919	+	Missense_Mutation	SNP	G	G	A	rs542576593		TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr13:29855919G>A	ENST00000431530.3	+	4	2811	c.2753G>A	c.(2752-2754)cGg>cAg	p.R918Q		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	908	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R918Q(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGGGCCGGCCGGGTGGCCCCT	0.577													G|||	1	0.000199681	0	0	5008	,	,		13858	0		0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											34	37	36					13																	29855919		1864	4097	5961	28753919	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"+TIP of 150 kDa", "cardiac zipper protein"		"KIAA0774"	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2753G>A	13.37:g.29855919G>A	ENSP00000392057:p.Arg918Gln	259	0.77	2					28753919	247	42.82	185	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.R918Q	ENST00000431530.3	37	c.2753	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730298	0.48939	.	.	ENSG00000132938	ENST00000431530	T	0.17691	2.26	4.85	4.85	0.62838	.	0.225856	0.28171	N	0.016339	T	0.32912	0.0845	L	0.53249	1.67	0.44079	D	0.996832	D	0.89917	1.0	D	0.69824	0.966	T	0.00630	-1.1636	9	.	.	.	.	10.765	0.46288	0.0962:0.0:0.9038:0.0	.	908	Q5JR59	MTUS2_HUMAN	Q	918	ENSP00000392057:R918Q	.	R	+	2	0	MTUS2	28753919	0.387000	0.25188	0.294000	0.24946	0.072000	0.16883	3.061000	0.49963	2.692000	0.91855	0.655000	0.94253	CGG	-	NULL		0.577	MTUS2-002	KNOWN	basic|CCDS	protein_coding	KIAA0774	protein_coding	OTTHUMT00000044336.3	G	XM_166270		28753919	1	no_errors	NM_001033602.2	genbank	human	validated	54_36p	missense	SNP	0.496	A	A	29855919	G	A	29855919	3	1	153	1	0	0	0	0	1	0	0	0	9966	1116	39	1	2767	1	MTUS2	13	29855919	Missense_Mutation	SNP	G	TCGA-AB-2968-03A-01D-0739-09		29855919	85313959	14	1738											
BPTF	2186	genome.wustl.edu	37	17	65907983	65907983	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr17:65907983T>G	ENST00000321892.4	+	13	4422	c.4361T>G	c.(4360-4362)gTc>gGc	p.V1454G	BPTF_ENST00000424123.3_Missense_Mutation_p.V1315G|BPTF_ENST00000306378.6_Missense_Mutation_p.V1328G|BPTF_ENST00000335221.5_Missense_Mutation_p.V1454G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1454					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V1328G(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GATGTTGAAGTCTTGGAGCCG	0.438																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											69	70	69					17																	65907983		2203	4300	6503	63338445	SO:0001583	missense	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"Zinc fingers, PHD-type"	3581	protein-coding gene	gene with protein product		601819	"fetal Alzheimer antigen"	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.4361T>G	17.37:g.65907983T>G	ENSP00000315454:p.Val1454Gly	407	1.21	5					63338445	236	38.06	145	Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMSmart_PHD,HMMPfam_DDT,superfamily_FYVE_PHD_ZnF,HMMPfam_FYDLN_acid,PatternScan_EGF_2,PatternScan_BROMODOMAIN_1,HMMSmart_DDT,PatternScan_ZF_PHD_1,HMMPfam_PHD	p.V1328G	ENST00000321892.4	37	c.3983		17	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.776141	0.00640	.	.	ENSG00000171634	ENST00000306378;ENST00000335221;ENST00000321892	T;T;T	0.61510	0.11;0.1;0.1	5.26	1.88	0.25563	.	.	.	.	.	T	0.25754	0.0627	N	0.02539	-0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22521	-1.0214	9	0.13470	T	0.59	0.3078	5.4901	0.16771	0.3798:0.0:0.4952:0.125	.	1328;1454	Q12830-2;Q12830-4	.;.	G	1328;1454;1454	ENSP00000307208:V1328G;ENSP00000334351:V1454G;ENSP00000315454:V1454G	ENSP00000307208:V1328G	V	+	2	0	BPTF	63338445	0.001000	0.12720	0.030000	0.17652	0.003000	0.03518	-0.160000	0.10041	0.001000	0.14605	-0.744000	0.03518	GTC	-	NULL		0.438	BPTF-201	KNOWN	basic	protein_coding	BPTF	protein_coding		T	NM_182641, NM_004459		63338445	1	no_errors	NM_182641.6	genbank	human	reviewed	54_36p	missense	SNP	0.020	G	G	65907983	T	G	65907983	3	3	153	1	0	0	0	0	1	0	0	0	1495	1667	58	5	4411	5	BPTF	17	65907983	Missense_Mutation	SNP	T	TCGA-AB-2968-03A-01D-0739-09		65907983	15287227	15	1739											
PRODH2	58510	genome.wustl.edu	37	19	36303651	36303651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr19:36303651C>T	ENST00000301175.3	-	2	302	c.285G>A	c.(283-285)tgG>tgA	p.W95*		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	95					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.W95*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCAGGGACTGCCAGCCCCTGG	0.652																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	19											40	41	41					19																	36303651		2203	4300	6503	40995491	SO:0001587	stop_gained	0			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.285G>A	19.37:g.36303651C>T	ENSP00000301175:p.Trp95*	537	1.47	8					40995491	181	44.98	148		Nonsense_Mutation	SNP	HMMPfam_Pro_dh,superfamily_SSF51730	p.W95*	ENST00000301175.3	37	c.285	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834998	0.50951	.	.	ENSG00000250799	ENST00000301175	.	.	.	5.01	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	12.672	0.56872	0.1661:0.8339:0.0:0.0	.	.	.	.	X	95	.	ENSP00000301175:W95X	W	-	3	0	PRODH2	40995491	0.976000	0.34144	0.999000	0.59377	0.041000	0.13682	2.092000	0.41700	1.330000	0.45394	-0.230000	0.12252	TGG	-	NULL		0.652	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	protein_coding	OTTHUMT00000452552.2	C	NM_021232		40995491	-1	no_errors	NM_021232.1	genbank	human	reviewed	54_36p	nonsense	SNP	0.998	T	T	36303651	C	T	36303651	4	4	153	1	0	0	0	0	0	1	0	0	12549	740	26	2	1365	2	PRODH2	19	36303651	Nonsense_Mutation	SNP	C	TCGA-AB-2968-03A-01D-0739-09		36303651	22825332	16	1740											
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	21						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	43397525	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	252	3.82	10					43397525	77	44.6	62	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	G	NM_006758		43397525	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	44524456	G	A	44524456	3	1	153	1	0	0	0	0	1	0	0	0	16818	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-AB-2968-03A-01D-0739-09		44524456	3605439	17	1741											
BCOR	54880	genome.wustl.edu	37	X	39932084	39932085	+	Frame_Shift_Ins	INS	-	-	G	rs147497014	byFrequency	TCGA-AB-2968-03A-01D-0739-09	TCGA-AB-2968-11A-01D-0739-09	-	-	-	G	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85d9ba67-6bb0-440d-8d9f-1c9582697ba6	2f3495f2-e136-437c-8c9a-a2e01db92a3e	g.chrX:39932084_39932085insG	ENST00000378444.4	-	4	2742_2743	c.2514_2515insC	c.(2512-2517)cccaagfs	p.K839fs	BCOR_ENST00000378455.4_Frame_Shift_Ins_p.K839fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.K839fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.K839fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	839					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACTGAGGGCTTGGGGGGCTCAG	0.545			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0			X																																								39817029	SO:0001589	frameshift_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2515dupC	X.37:g.39932090_39932090dupG	ENSP00000367705:p.Lys839fs	89	2.2	2					39817028	42	62.16	69	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK	p.K838fs	ENST00000378444.4	37	c.2515_2514	CCDS48093.1	X																																																																																			-	NULL		0.545	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	-	NM_017745		39817029	-1	no_errors	NM_017745.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.579:0.203	G	G	39932085	-	G	39932084	7	5	153	1	0	1	1	0	0	0	0	0	1386	1821	63	0	2800	0	BCOR	23	39932084	Frame_Shift_Ins	INS	-	TCGA-AB-2968-03A-01D-0739-09		39932084	115338476	18	1742											
LRRN2	10446	genome.wustl.edu	37	1	204588352	204588352	+	Silent	SNP	G	G	A			TCGA-AB-2970-03A-01D-0739-09	TCGA-AB-2970-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8ace649f-6c0a-47a4-9ebb-081fd6f8a025	d0983a5d-cb05-4b25-8053-631d52627b28	g.chr1:204588352G>A	ENST00000367175.1	-	1	2981	c.769C>T	c.(769-771)Ctg>Ttg	p.L257L	LRRN2_ENST00000367176.3_Silent_p.L257L|LRRN2_ENST00000367177.3_Silent_p.L257L|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	257					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.L257L(3)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACCTGTTCCAGTGCCCGCCTG	0.627																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1											32	37	35					1																	204588352		2203	4300	6503	202854975	SO:0001819	synonymous_variant	0			AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"Immunoglobulin superfamily / I-set domain containing"	16914	protein-coding gene	gene with protein product	"leucine rich and ankyrin repeats 1", "fibronectin type III, immunoglobulin and leucine rich repeat domain 7"	605492	"leucine rich repeat neuronal 5"	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.769C>T	1.37:g.204588352G>A		481	6.96324951644101	36		0	100	8	202854975	324	44.3298969072165	258	B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00365,superfamily_Immunoglobulin,superfamily_L domain-like	p.L257	ENST00000367175.1	37	c.769	CCDS1448.1	1																																																																																			-	HMMSmart_SM00369,HMMSmart_SM00365,superfamily_L domain-like		0.627	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN2	protein_coding	OTTHUMT00000089894.1	G	NM_006338		202854975	-1	no_errors	NM_006338.2	genbank	human	reviewed	54_36p	silent	SNP	0.995	A	A	204588352	G	A	204588352	2	1	154	1	0	0	0	0	0	0	0	1	9035	1020	36	2		2	LRRN2	1	204588352	Silent	SNP	G	TCGA-AB-2970-03A-01D-0739-09		204588352	44662269	1	1743											
SCUBE3	222663	genome.wustl.edu	37	6	35212479	35212479	+	Silent	SNP	C	C	T			TCGA-AB-2970-03A-01D-0739-09	TCGA-AB-2970-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8ace649f-6c0a-47a4-9ebb-081fd6f8a025	d0983a5d-cb05-4b25-8053-631d52627b28	g.chr6:35212479C>T	ENST00000274938.7	+	18	2292	c.2292C>T	c.(2290-2292)cgC>cgT	p.R764R	SCUBE3_ENST00000394681.1_Silent_p.R780R	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.R764R(3)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						GCTGTATTCGCTGTGCCATGG	0.572																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	6											175	158	164					6																	35212479		2203	4300	6503	35320457	SO:0001819	synonymous_variant	0			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"CUB domain and EGF-like repeat containing 3"	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2292C>T	6.37:g.35212479C>T		878	12.18	122		2	0	0	35320457	381	46.11	326		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.R764	ENST00000274938.7	37	c.2292	CCDS4800.1	6																																																																																			-	HMMSmart_SM00181,superfamily_Growth factor receptor domain,HMMPfam_GCC2_GCC3		0.572	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	protein_coding	OTTHUMT00000040275.1	C	NM_152753		35320457	1	no_errors	NM_152753.2	genbank	human	provisional	54_36p	silent	SNP	1.000	T	T	35212479	C	T	35212479	2	4	154	1	0	0	0	0	0	0	0	1	13946	784	28	2		2	SCUBE3	6	35212479	Silent	SNP	C	TCGA-AB-2970-03A-01D-0739-09		35212479	135902588	2	1744											
MSR1	4481	genome.wustl.edu	37	8	15978072	15978072	+	Silent	SNP	G	G	A			TCGA-AB-2970-03A-01D-0739-09	TCGA-AB-2970-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8ace649f-6c0a-47a4-9ebb-081fd6f8a025	d0983a5d-cb05-4b25-8053-631d52627b28	g.chr8:15978072G>A	ENST00000262101.5	-	9	1198	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Silent_p.H377H			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	359	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)	p.H359H(3)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCTCCCCTCGTGAGGGCCGC	0.483																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	8											75	77	76					8																	15978072		2203	4300	6503	16022443	SO:0001819	synonymous_variant	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"CD molecules"	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1077C>T	8.37:g.15978072G>A		397	6.36792452830189	27					16022443	239	51.5212981744422	254	D3DSP3|O60505|P21759|Q45F10	Silent	SNP	HMMPfam_SRCR,PatternScan_SRCR_1,HMMPfam_Macscav_rec,HMMPfam_Collagen,HMMSmart_SM00202,superfamily_SRCR-like	p.H359	ENST00000262101.5	37	c.1077	CCDS5995.1	8																																																																																			-	HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like		0.483	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	protein_coding	OTTHUMT00000211627.2	G			16022443	-1	no_errors	NM_138715.3	genbank	human	reviewed	54_36p	silent	SNP	0.042	A	A	15978072	G	A	15978072	2	1	154	1	0	0	0	0	0	0	0	1	9886	1136	40	1		1	MSR1	8	15978072	Silent	SNP	G	TCGA-AB-2970-03A-01D-0739-09		15978072	130385950	3	1745											
WT1	7490	genome.wustl.edu	37	11	32413611	32413611	+	Splice_Site	SNP	C	C	T			TCGA-AB-2970-03A-01D-0739-09	TCGA-AB-2970-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8ace649f-6c0a-47a4-9ebb-081fd6f8a025	d0983a5d-cb05-4b25-8053-631d52627b28	g.chr11:32413611C>T	ENST00000379079.2	-	9	977		c.e9-1		WT1_ENST00000332351.3_Splice_Site|WT1_ENST00000448076.3_Splice_Site|WT1_ENST00000530998.1_Splice_Site	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.?(3)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGTTTCACACCTAAATGGACA	0.537			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	11											133	124	127					11																	32413611		2202	4299	6501	32370187	SO:0001630	splice_region_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.704-1G>A	11.37:g.32413611C>T		1126	10.8	137		5	37.5	3	32370187	311	43.38	239	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Splice_Site	SNP	-	e9-1	ENST00000379079.2	37	c.1340-1	CCDS55751.1	11	.	.	.	.	.	.	.	.	.	.	C	29.9	5.042933	0.93685	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076;ENST00000527882	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WT1	32370187	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.794000	0.85869	2.873000	0.98535	0.561000	0.74099	.	-	-		0.537	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	C	NM_000378	Intron	32370187	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	32413611	C	T	32413611	5	4	154	1	0	0	0	0	0	0	1	0	17405	695	24	2	222	2	WT1	11	32413611	Splice_Site	SNP	C	TCGA-AB-2970-03A-01D-0739-09		32413611	102592905	4	1746											
FLT3	2322	genome.wustl.edu	37	13	28608258	28608259	+	In_Frame_Ins	INS	-	-	GGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG			TCGA-AB-2970-03A-01D-0739-09	TCGA-AB-2970-11A-01D-0739-09	-	-	-	GGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8ace649f-6c0a-47a4-9ebb-081fd6f8a025	d0983a5d-cb05-4b25-8053-631d52627b28	g.chr13:28608258_28608259insGGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	ENST00000241453.7	-	14	1878_1879	c.1797_1798insCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATCGCC	c.(1795-1800)tatgat>tatCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATCGCCgat	p.599_600YD>YPAPQIMSTSTLISENMNIAD	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600YD>YPAPQIMSTSTLISENMNIAD|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600YD>YPAPQIMSTSTLISENMNIAD	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y599_D600insPAPQIMSTSTLISENMNIA(2)|p.Y599_D600ins15(2)|p.D600_L601insVDFREYEY(1)|p.E598_Y599insWDFREYE(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CATTTGAGATCATATTCATATT	0.371			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	6	Insertion - In frame(6)	haematopoietic_and_lymphoid_tissue(6)	13																																								27506259	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1797_1798insCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATATCGCC	13.37:g.28608258_28608259insGGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	ENSP00000241453:p.Tyr599_Asp600insProAlaProGlnIleMetSerThrSerThrLeuIleSerGluAsnMetAsnIleAla	228	14.6067415730337	39					27506258	145	60.9164420485175	226	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.599in_frame_insPAPQIMSTSTLISENMNIA	ENST00000241453.7	37	c.1798_1797	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.371	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506259	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	GGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	GGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	28608259	-	GGCGATATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	28608258	7	5	154	1	0	1	1	0	0	0	0	0	5942	826	29	0	1227	0	FLT3	13	28608258	In_Frame_Ins	INS	-	TCGA-AB-2970-03A-01D-0739-09		28608258	86561620	5	1747											
PLEKHH1	57475	genome.wustl.edu	37	14	68036718	68036718	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2970-03A-01D-0739-09	TCGA-AB-2970-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8ace649f-6c0a-47a4-9ebb-081fd6f8a025	d0983a5d-cb05-4b25-8053-631d52627b28	g.chr14:68036718G>A	ENST00000329153.5	+	9	1555	c.1423G>A	c.(1423-1425)Gca>Aca	p.A475T		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	475						cytoskeleton (GO:0005856)		p.A475T(3)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TGTCTACACAGCACTGAAGGG	0.567																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	14											87	82	84					14																	68036718		1934	4150	6084	67106471	SO:0001583	missense	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"Pleckstrin homology (PH) domain containing"	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1423G>A	14.37:g.68036718G>A	ENSP00000330278:p.Ala475Thr	793	12.56	114					67106471	363	46.3	313	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	HMMPfam_MyTH4,HMMSmart_SM00139,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like	p.A475T	ENST00000329153.5	37	c.1423	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	g	5.676	0.309236	0.10733	.	.	ENSG00000054690	ENST00000329153	T	0.13089	2.62	4.74	1.53	0.23141	.	0.232821	0.43110	D	0.000602	T	0.04272	0.0118	N	0.11673	0.155	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36504	-0.9745	10	0.02654	T	1	.	2.4409	0.04494	0.2103:0.0:0.291:0.4987	.	475	Q9ULM0	PKHH1_HUMAN	T	475	ENSP00000330278:A475T	ENSP00000330278:A475T	A	+	1	0	PLEKHH1	67106471	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.023000	0.49666	0.546000	0.28920	0.479000	0.44913	GCA	-	NULL		0.567	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	protein_coding	OTTHUMT00000412730.3	G	XM_031054		67106471	1	no_errors	NM_020715.2	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	68036718	G	A	68036718	3	1	154	1	0	0	0	0	1	0	0	0	12076	971	34	2	1453	2	PLEKHH1	14	68036718	Missense_Mutation	SNP	G	TCGA-AB-2970-03A-01D-0739-09		68036718	39312822	6	1748											
RUNX1	861	genome.wustl.edu	37	21	36259153	36259153	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2970-03A-01D-0739-09	TCGA-AB-2970-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8ace649f-6c0a-47a4-9ebb-081fd6f8a025	d0983a5d-cb05-4b25-8053-631d52627b28	g.chr21:36259153G>A	ENST00000344691.4	-	1	1834	c.257C>T	c.(256-258)cCc>cTc	p.P86L	RUNX1_ENST00000325074.5_Missense_Mutation_p.P101L|RUNX1_ENST00000437180.1_Missense_Mutation_p.P113L|RUNX1_ENST00000399240.1_Missense_Mutation_p.P86L|RUNX1_ENST00000358356.5_Missense_Mutation_p.P86L|RUNX1_ENST00000486278.2_Missense_Mutation_p.P89L|RUNX1_ENST00000300305.3_Missense_Mutation_p.P113L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	86	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.P113L(4)|p.V90_K117del(1)|p.L112fs*24(1)		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						GAAAGCGATGGGCAGGGTCTT	0.721			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	6	Substitution - Missense(4)|Deletion - Frameshift(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(6)	21											54	52	53					21																	36259153		2203	4300	6503	35181023	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.257C>T	21.37:g.36259153G>A	ENSP00000340690:p.Pro86Leu	312	10.3448275862069	36		6	97.9	280	35181023	39	90.4176904176904	368	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.P113L	ENST00000344691.4	37	c.338	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	31	5.104392	0.94245	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99758	-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65;-6.65	4.45	4.45	0.53987	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	0.99813	0.9918	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.997;1.0;0.999;1.0	D	0.96701	0.9518	10	0.87932	D	0	-22.778	17.2859	0.87141	0.0:0.0:1.0:0.0	.	113;86;113;101;86	Q2TAM6;Q01196-3;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	L	86;113;113;101;86;89;86;101;89;100	ENSP00000340690:P86L;ENSP00000300305:P113L;ENSP00000409227:P113L;ENSP00000319459:P101L;ENSP00000382184:P86L;ENSP00000351123:P86L;ENSP00000382182:P101L;ENSP00000438019:P89L;ENSP00000388189:P100L	ENSP00000300305:P113L	P	-	2	0	RUNX1	35181023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.078000	0.94023	2.296000	0.77279	0.563000	0.77884	CCC	-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.721	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35181023	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	36259153	G	A	36259153	3	1	154	1	0	0	0	0	1	0	0	0	13746	1232	43	2	1161	2	RUNX1	21	36259153	Missense_Mutation	SNP	G	TCGA-AB-2970-03A-01D-0739-09		36259153	11870742	7	1749											
BCOR	54880	genome.wustl.edu	37	X	39933858	39933858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AB-2970-03A-01D-0739-09	TCGA-AB-2970-11A-01D-0739-09	C	C	C	-	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8ace649f-6c0a-47a4-9ebb-081fd6f8a025	d0983a5d-cb05-4b25-8053-631d52627b28	g.chrX:39933858delC	ENST00000378444.4	-	4	969	c.741delG	c.(739-741)ctgfs	p.L247fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.L247fs|BCOR_ENST00000342274.4_Frame_Shift_Del_p.L247fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.L247fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	247					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P248fs*18(3)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGGTGGCGGCAGGTAGAGAA	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		3	Deletion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	X											67	45	52					X																	39933858		2202	4300	6502	39818802	SO:0001589	frameshift_variant	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"Ankyrin repeat domain containing"	20893	protein-coding gene	gene with protein product		300485	"BCL6 co-repressor"			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.741delG	X.37:g.39933858delC	ENSP00000367705:p.Leu247fs	999	10.01	113		2	82.61	57	39818802	254	45.28	230	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Del	DEL	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK	p.P248fs	ENST00000378444.4	37	c.741	CCDS48093.1	X																																																																																			-	NULL		0.607	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	protein_coding	OTTHUMT00000060666.2	C	NM_017745		39818802	-1	no_errors	NM_017745.1	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-	-	39933858	C	-	39933858	7	5	154	1	0	1	0	1	0	0	0	0	1386	697	25	0	4574	0	BCOR	23	39933858	Frame_Shift_Del	DEL	C	TCGA-AB-2970-03A-01D-0739-09		39933858	115336702	8	1750											
SAP130	79595	genome.wustl.edu	37	2	128770686	128770686	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr2:128770686G>A	ENST00000259235.3	-	6	869	c.740C>T	c.(739-741)aCa>aTa	p.T247I	SAP130_ENST00000357702.5_Missense_Mutation_p.T247I|SAP130_ENST00000259234.6_Missense_Mutation_p.T221I	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	247					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.T247I(1)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCTCAGGACTGTGGTTACTTT	0.463																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											73	67	69					2																	128770686		2203	4300	6503	128487156	SO:0001583	missense	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"sin3A-associated protein, 130kDa"			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.740C>T	2.37:g.128770686G>A	ENSP00000259235:p.Thr247Ile	364	5.7	22		16	40.74	11	128487156	269	47.46	243	B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.T247I	ENST00000259235.3	37	c.740	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298473	0.60195	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298	.	.	.	5.56	5.56	0.83823	.	0.043458	0.85682	D	0.000000	T	0.65678	0.2714	L	0.27053	0.805	0.80722	D	1	D;D;D	0.76494	0.985;0.998;0.999	P;D;D	0.66351	0.714;0.943;0.93	T	0.66618	-0.5878	9	0.49607	T	0.09	-14.0266	19.5058	0.95114	0.0:0.0:1.0:0.0	.	247;221;247	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	I	247;247;221;221	.	ENSP00000259234:T221I	T	-	2	0	SAP130	128487156	1.000000	0.71417	0.986000	0.45419	0.992000	0.81027	6.876000	0.75556	2.611000	0.88343	0.561000	0.74099	ACA	-	NULL		0.463	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	protein_coding	OTTHUMT00000254436.3	G	NM_024545		128487156	-1	no_errors	NM_024545.1	genbank	human	validated	54_36p	missense	SNP	0.999	A	A	128770686	G	A	128770686	3	1	155	1	0	0	0	0	1	0	0	0	13831	1377	48	2	2575	2	SAP130	2	128770686	Missense_Mutation	SNP	G	TCGA-AB-2971-03A-01D-0739-09		128770686	114428687	1	1751											
RBM44	375316	genome.wustl.edu	37	2	238742984	238742984	+	Silent	SNP	A	A	G			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr2:238742984A>G	ENST00000409864.1	+	15	3353	c.3099A>G	c.(3097-3099)ttA>ttG	p.L1033L	RBM44_ENST00000316997.4_Silent_p.L1033L			Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	1032						cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)	nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.L1033L(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGAATGGCTTATCTATTACTA	0.308																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											36	35	35					2																	238742984		1803	4043	5846	238407723	SO:0001819	synonymous_variant	0			AK097730	CCDS46554.1	2q37.3	2013-02-12			ENSG00000177483	ENSG00000177483		"RNA binding motif (RRM) containing"	24756	protein-coding gene	gene with protein product							Standard	NM_001080504		Approved	FLJ40411	uc002vxi.4	Q6ZP01	OTTHUMG00000152937	ENST00000409864.1:c.3099A>G	2.37:g.238742984A>G		344	7.77	29		2	0	0	238407723	285	40.29	193	A0AUW3	Silent	SNP	HMMPfam_RRM_1,HMMSmart_RRM,superfamily_SSF54928	p.L1032	ENST00000409864.1	37	c.3096	CCDS46554.1	2																																																																																			-	NULL		0.308	RBM44-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM44	protein_coding	OTTHUMT00000328733.2	A	NM_001080504		238407723	1	no_errors	NM_001080504.2	genbank	human	validated	54_36p	silent	SNP	0.992	G	G	238742984	A	G	238742984	2	3	155	1	0	0	0	0	0	0	0	1	13138	446	16	3		3	RBM44	2	238742984	Silent	SNP	A	TCGA-AB-2971-03A-01D-0739-09	109972298	238742984	4456389	2	1752											
TET2	54790	genome.wustl.edu	37	4	106158309	106158309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	T	T	T	-	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr4:106158309delT	ENST00000540549.1	+	3	4070	c.3210delT	c.(3208-3210)actfs	p.T1070fs	TET2_ENST00000513237.1_Frame_Shift_Del_p.T1091fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.T1070fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.T1070fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.T1070fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.T1070fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.T1070fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1070					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.A1071fs*11(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACAAACCACTGCTGCAGAAC	0.418			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	4											81	79	79					4																	106158309		2203	4300	6503	106377758	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.3210delT	4.37:g.106158309delT	ENSP00000442788:p.Thr1070fs	467	5.44	27		95	43.35	75	106377758	475	45.1	414	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.A1071fs	ENST00000540549.1	37	c.3210	CCDS47120.1	4																																																																																			-	NULL		0.418	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	T	NM_017628		106377758	1	no_errors	NM_017628.1	genbank	human	validated	54_36p	frame_shift_del	DEL	0.932	-	-	106158309	T	-	106158309	7	5	155	1	0	1	0	1	0	0	0	0	15767	1567	55	0	3212	0	TET2	4	106158309	Frame_Shift_Del	DEL	T	TCGA-AB-2971-03A-01D-0739-09		106158309	84995967	3	1753											
TET2	54790	genome.wustl.edu	37	4	106197255	106197255	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr4:106197255C>A	ENST00000540549.1	+	11	6448	c.5588C>A	c.(5587-5589)gCc>gAc	p.A1863D	TET2_ENST00000513237.1_Missense_Mutation_p.A1884D|TET2_ENST00000380013.4_Missense_Mutation_p.A1863D|TET2_ENST00000545826.1_3'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1863					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.A1863D(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGGGGAGTGGCCGTGGCTCCA	0.542			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											54	50	51					4																	106197255		692	1591	2283	106416704	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5588C>A	4.37:g.106197255C>A	ENSP00000442788:p.Ala1863Asp	424	9.36	44		30	53.85	35	106416704	672	44.84	547	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.A665D	ENST00000540549.1	37	c.1994	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904971	0.92035	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.14640	2.49;2.49;2.49	5.33	5.33	0.75918	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.42988	0.1227	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.43065	-0.9414	9	0.87932	D	0	-12.2809	19.031	0.92957	0.0:1.0:0.0:0.0	.	1884;1863	E7EQS8;Q6N021	.;TET2_HUMAN	D	1863;1884;1863	ENSP00000442788:A1863D;ENSP00000425443:A1884D;ENSP00000369351:A1863D	ENSP00000369351:A1863D	A	+	2	0	TET2	106416704	1.000000	0.71417	0.970000	0.41538	0.994000	0.84299	7.277000	0.78572	2.477000	0.83638	0.591000	0.81541	GCC	-	NULL		0.542	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106416704	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	missense	SNP	0.997	A	A	106197255	C	A	106197255	3	1	155	1	0	0	0	0	1	0	0	0	15767	739	26	4	5711	4	TET2	4	106197255	Missense_Mutation	SNP	C	TCGA-AB-2971-03A-01D-0739-09	38946	106197255	84957021	4	1754											
BMP5	653	genome.wustl.edu	37	6	55638913	55638913	+	Nonsense_Mutation	SNP	G	G	A	rs550837639		TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr6:55638913G>A	ENST00000370830.3	-	4	1659	c.961C>T	c.(961-963)Cga>Tga	p.R321*	BMP5_ENST00000446683.2_Nonsense_Mutation_p.R321*	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	321					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.R321*(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGATTTTTTCGTTTGTTGGCT	0.473													G|||	1	0.000199681	8e-04	0	5008	,	,		18020	0		0	False		,,,				2504	0					dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	6											202	173	183					6																	55638913		2203	4300	6503	55746872	SO:0001587	stop_gained	0				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"Bone morphogenetic proteins", "Endogenous ligands"	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.961C>T	6.37:g.55638913G>A	ENSP00000359866:p.Arg321*	515	8.85	50					55746872	545	45.28	451	B4E0Y4|Q9H547|Q9NTM5	Nonsense_Mutation	SNP	HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501	p.R321*	ENST00000370830.3	37	c.961	CCDS4958.1	6	.	.	.	.	.	.	.	.	.	.	G	43	10.295298	0.99378	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	.	.	.	5.74	-0.0584	0.13797	.	0.052929	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0604	0.86546	0.0:0.0:0.1964:0.8036	.	.	.	.	X	321	.	ENSP00000359866:R321X	R	-	1	2	BMP5	55746872	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	1.558000	0.36309	0.033000	0.15463	0.655000	0.94253	CGA	-	NULL		0.473	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	protein_coding	OTTHUMT00000041000.1	G			55746872	-1	no_errors	NM_021073.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	55638913	G	A	55638913	4	1	155	1	0	0	0	0	0	1	0	0	1463	1153	40	1	419	1	BMP5	6	55638913	Nonsense_Mutation	SNP	G	TCGA-AB-2971-03A-01D-0739-09		55638913	115476154	5	1755											
PTPRN2	5799	genome.wustl.edu	37	7	157396754	157396754	+	Silent	SNP	C	C	T			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr7:157396754C>T	ENST00000389418.4	-	16	2367	c.2358G>A	c.(2356-2358)cgG>cgA	p.R786R	PTPRN2_ENST00000389416.4_Silent_p.R769R|PTPRN2_ENST00000409483.1_Silent_p.R748R|PTPRN2_ENST00000404321.2_Silent_p.R809R|PTPRN2_ENST00000389413.3_Silent_p.R757R	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	786	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R786R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCAGGACCCGGGAGTGGT	0.632																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	7											103	80	88					7																	157396754		2203	4300	6503	157089515	SO:0001819	synonymous_variant	0			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9677	protein-coding gene	gene with protein product	"IAR PTPRP"	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.2358G>A	7.37:g.157396754C>T		169	3.98	7		1	50	1	157089515	90	43.04	68	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II	p.R786	ENST00000389418.4	37	c.2358	CCDS5947.1	7																																																																																			-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II		0.632	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	C			157089515	-1	no_errors	NM_002847.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	157396754	C	T	157396754	2	4	155	1	0	0	0	0	0	0	0	1	12808	610	22	2		2	PTPRN2	7	157396754	Silent	SNP	C	TCGA-AB-2971-03A-01D-0739-09		157396754	1741909	6	1756											
WEE1	7465	genome.wustl.edu	37	11	9610036	9610036	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr11:9610036G>A	ENST00000450114.2	+	11	2081	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	WEE1_ENST00000299613.6_Missense_Mutation_p.E396K	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	610					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E610K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGCAGCTGAGGAAAGAGCACT	0.428																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											125	120	122					11																	9610036		2201	4294	6495	9566612	SO:0001583	missense	0			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"wee1+ (S. pombe) homolog", "WEE1 homolog (S. pombe)"			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1828G>A	11.37:g.9610036G>A	ENSP00000402084:p.Glu610Lys	509	2.67	14		19	40.62	13	9566612	231	38.73	146	B3KVE1|D3DQV0	Missense_Mutation	SNP	PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.E610K	ENST00000450114.2	37	c.1828	CCDS7800.1	11	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723931	0.89298	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000527848	T;T;T	0.54071	0.68;0.59;0.74	5.31	5.31	0.75309	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.50990	0.1648	L	0.46157	1.445	0.80722	D	1	D	0.53151	0.958	P	0.45138	0.471	T	0.44236	-0.9341	10	0.18276	T	0.48	-16.3277	18.9901	0.92788	0.0:0.0:1.0:0.0	.	610	P30291	WEE1_HUMAN	K	610;396;62	ENSP00000402084:E610K;ENSP00000299613:E396K;ENSP00000432284:E62K	ENSP00000299613:E396K	E	+	1	0	WEE1	9566612	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.060000	0.93907	2.489000	0.83994	0.563000	0.77884	GAA	-	NULL		0.428	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE1	protein_coding	OTTHUMT00000386757.1	G	NM_003390		9566612	1	no_errors	NM_003390.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	9610036	G	A	9610036	3	1	155	1	0	0	0	0	1	0	0	0	17341	1175	41	2	1870	2	WEE1	11	9610036	Missense_Mutation	SNP	G	TCGA-AB-2971-03A-01D-0739-09		9610036	125396480	7	1757											
E2F8	79733	genome.wustl.edu	37	11	19251105	19251105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr11:19251105C>A	ENST00000527884.1	-	10	2021	c.1789G>T	c.(1789-1791)Gag>Tag	p.E597*	E2F8_ENST00000250024.4_Nonsense_Mutation_p.E597*|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	597					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E597*(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAGCTGGCTCCCTGGTTCGG	0.522																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	11											133	122	126					11																	19251105		2199	4293	6492	19207681	SO:0001587	stop_gained	0				CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.1789G>T	11.37:g.19251105C>A	ENSP00000434199:p.Glu597*	650	5.66	39		2	33.33	1	19207681	350	48.98	336	A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Nonsense_Mutation	SNP	HMMPfam_E2F_TDP,superfamily_"Winged helix" DNA-binding domain	p.E597*	ENST00000527884.1	37	c.1789	CCDS7849.1	11	.	.	.	.	.	.	.	.	.	.	C	38	6.885646	0.97908	.	.	ENSG00000129173	ENST00000527884;ENST00000396159;ENST00000250024	.	.	.	5.35	5.35	0.76521	.	0.395690	0.27941	N	0.017240	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-20.7618	11.353	0.49598	0.0:0.916:0.0:0.084	.	.	.	.	X	597	.	ENSP00000250024:E597X	E	-	1	0	E2F8	19207681	0.933000	0.31639	0.322000	0.25334	0.707000	0.40811	2.972000	0.49256	2.503000	0.84419	0.655000	0.94253	GAG	-	NULL		0.522	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F8	protein_coding	OTTHUMT00000387830.1	C	NM_024680		19207681	-1	no_errors	NM_024680.2	genbank	human	validated	54_36p	nonsense	SNP	0.065	A	A	19251105	C	A	19251105	4	1	155	1	0	0	0	0	0	1	0	0	4873	864	30	4	830	4	E2F8	11	19251105	Nonsense_Mutation	SNP	C	TCGA-AB-2971-03A-01D-0739-09	9641069	19251105	115755411	8	1758											
CNTNAP4	85445	genome.wustl.edu	37	16	76461380	76461380	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr16:76461380T>A	ENST00000476707.1	+	3	570	c.431T>A	c.(430-432)gTt>gAt	p.V144D	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.V116D|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.V140D|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.V140D			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	141	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.V116D(2)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCAGACAGTGTTGTGTACTAT	0.423																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	16											198	196	197					16																	76461380		2198	4300	6498	75018881	SO:0001583	missense	0			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.431T>A	16.37:g.76461380T>A	ENSP00000417628:p.Val144Asp	1284	7.02	97					75018881	1084	43.93	851	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_SM00231,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMSmart_SM00282,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2	p.V116D	ENST00000476707.1	37	c.347		16	.	.	.	.	.	.	.	.	.	.	T	25.7	4.669518	0.88348	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	4.98	4.98	0.66077	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.34652	N	0.003798	D	0.98871	0.9618	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.998;0.999	D;D;D;D	0.87578	0.998;0.997;0.995;0.996	D	0.99774	1.1025	9	0.87932	D	0	.	14.8097	0.69985	0.0:0.0:0.0:1.0	.	116;144;116;141	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	D	140;140;116;144	ENSP00000306893:V140D;ENSP00000439733:V140D;ENSP00000418741:V116D;ENSP00000417628:V144D	ENSP00000306893:V140D	V	+	2	0	CNTNAP4	75018881	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	5.975000	0.70475	2.232000	0.73038	0.533000	0.62120	GTT	-	HMMPfam_F5_F8_type_C,HMMSmart_SM00231,superfamily_Galactose-binding domain-like		0.423	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	T	NM_033401		75018881	1	no_errors	NM_138994.3	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	76461380	T	A	76461380	3	1	155	1	0	0	0	0	1	0	0	0	3649	1725	60	5	449	5	CNTNAP4	16	76461380	Missense_Mutation	SNP	T	TCGA-AB-2971-03A-01D-0739-09		76461380	13893373	9	1759											
MAPK1	5594	genome.wustl.edu	37	22	22153395	22153395	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chr22:22153395C>T	ENST00000215832.6	-	4	703	c.515G>A	c.(514-516)cGt>cAt	p.R172H	MAPK1_ENST00000544786.1_Missense_Mutation_p.R172H|MAPK1_ENST00000398822.3_Missense_Mutation_p.R172H	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.R172H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	ATCTGCAACACGGGCCAGGCC	0.408																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	22											73	65	67					22																	22153395		2203	4300	6503	20483395	SO:0001583	missense	0			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"Mitogen-activated protein kinase cascade / Kinases"	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.515G>A	22.37:g.22153395C>T	ENSP00000215832:p.Arg172His	557	7.28	44		41	51.76	44	20483395	675	44.64	546	A8CZ64	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_MAPK,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R172H	ENST00000215832.6	37	c.515	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.533706	0.96460	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.67523	-0.27;-0.27;-0.27	5.14	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85492	0.5709	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.985	D	0.88309	0.2955	10	0.87932	D	0	-0.4286	18.7977	0.92001	0.0:1.0:0.0:0.0	.	172;172	A8CZ64;P28482	.;MK01_HUMAN	H	172;160;172;172	ENSP00000215832:R172H;ENSP00000381803:R172H;ENSP00000440842:R172H	ENSP00000215832:R172H	R	-	2	0	MAPK1	20483395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.666000	0.90696	0.561000	0.74099	CGT	-	HMMSmart_SM00219,HMMSmart_SM00220,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase		0.408	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	protein_coding	OTTHUMT00000075396.2	C			20483395	-1	no_errors	NM_002745.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	22153395	C	T	22153395	3	4	155	1	0	0	0	0	1	0	0	0	9271	536	19	1	587	1	MAPK1	22	22153395	Missense_Mutation	SNP	C	TCGA-AB-2971-03A-01D-0739-09		22153395	29151171	10	1760											
MTMR8	55613	genome.wustl.edu	37	X	63488602	63488602	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2971-03A-01D-0739-09	TCGA-AB-2971-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	62d20b8b-a793-432a-895c-d496cd3fae2c	3b98ab49-9ae4-461a-8e29-be6e97425d04	g.chrX:63488602C>T	ENST00000374852.3	-	14	1997	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	644						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.E644K(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCCGTAGCCTCAAAGGTGCAC	0.532																																						dbGAP											3	Whole gene deletion(2)|Substitution - Missense(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	X											83	71	75					X																	63488602		2203	4300	6503	63405327	SO:0001583	missense	0			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1930G>A	X.37:g.63488602C>T	ENSP00000363985:p.Glu644Lys	882	6.95	66		0	100	1	63405327	737	46.13	632	Q5JT99|Q9NXP6	Missense_Mutation	SNP	HMMSmart_SM00404,HMMPfam_Myotub-related,PatternScan_TYR_PHOSPHATASE_1,superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II	p.E644K	ENST00000374852.3	37	c.1930	CCDS14379.1	X	.	.	.	.	.	.	.	.	.	.	C	8.027	0.760945	0.15914	.	.	ENSG00000102043	ENST00000374852;ENST00000247400	D	0.94330	-3.4	2.5	-2.38	0.06622	.	.	.	.	.	T	0.80974	0.4727	N	0.08118	0	0.09310	N	0.999999	B	0.09022	0.002	B	0.01281	0.0	T	0.67581	-0.5634	9	0.40728	T	0.16	.	2.3702	0.04329	0.2365:0.2738:0.0:0.4897	.	644	Q96EF0	MTMR8_HUMAN	K	644;530	ENSP00000363985:E644K	ENSP00000247400:E530K	E	-	1	0	MTMR8	63405327	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.054000	0.11826	-0.395000	0.07715	0.513000	0.50165	GAG	-	NULL		0.532	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	protein_coding	OTTHUMT00000056949.2	C	NM_017677		63405327	-1	no_errors	NM_017677.2	genbank	human	provisional	54_36p	missense	SNP	0.003	T	T	63488602	C	T	63488602	3	4	155	1	0	0	0	0	1	0	0	0	9949	835	29	2	188	2	MTMR8	23	63488602	Missense_Mutation	SNP	C	TCGA-AB-2971-03A-01D-0739-09		63488602	91781958	11	1761											
TUFT1	7286	genome.wustl.edu	37	1	151546791	151546791	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr1:151546791G>A	ENST00000368849.3	+	8	702	c.640G>A	c.(640-642)Gcc>Acc	p.A214T	TUFT1_ENST00000538902.1_Missense_Mutation_p.A233T|TUFT1_ENST00000392712.3_Missense_Mutation_p.A159T|TUFT1_ENST00000353024.3_Missense_Mutation_p.A155T|TUFT1_ENST00000368848.2_Missense_Mutation_p.A189T	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	214					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)	p.A214T(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTAATGTGGCCCTTCAGAG	0.517											OREG0003906	type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											106	99	101					1																	151546791		2203	4300	6503	149813415	SO:0001583	missense	0			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.640G>A	1.37:g.151546791G>A	ENSP00000357842:p.Ala214Thr	912	0	0	1741				149813415	308	43.28	235	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	NULL	p.A214T	ENST00000368849.3	37	c.640	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082640	0.76528	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000538902;ENST00000507671	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.01	5.01	0.66863	.	0.313477	0.35525	N	0.003148	T	0.32133	0.0819	L	0.57536	1.79	0.36539	D	0.871209	D;P;P	0.57257	0.979;0.613;0.846	P;P;P	0.56563	0.801;0.69;0.557	T	0.04840	-1.0923	10	0.17832	T	0.49	-12.5761	16.1666	0.81759	0.0:0.0:1.0:0.0	.	233;189;214	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	T	214;159;155;189;233;189	ENSP00000357842:A214T;ENSP00000376476:A159T;ENSP00000343781:A155T;ENSP00000357841:A189T;ENSP00000437997:A233T	ENSP00000343781:A155T	A	+	1	0	TUFT1	149813415	1.000000	0.71417	0.965000	0.40720	0.526000	0.34562	6.249000	0.72427	2.479000	0.83701	0.655000	0.94253	GCC	-	NULL		0.517	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	protein_coding	OTTHUMT00000035022.1	G	NM_020127		149813415	1	no_errors	NM_020127.1	genbank	human	validated	54_36p	missense	SNP	0.973	A	A	151546791	G	A	151546791	3	1	156	1	0	0	0	0	1	0	0	0	16769	1203	42	2	670	2	TUFT1	1	151546791	Missense_Mutation	SNP	G	TCGA-AB-2972-03A-01D-0739-09		151546791	97703830	1	1762											
HMCN1	83872	genome.wustl.edu	37	1	185958621	185958621	+	Splice_Site	SNP	A	A	G			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr1:185958621A>G	ENST00000271588.4	+	21	3279	c.3050A>G	c.(3049-3051)aAa>aGa	p.K1017R	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Splice_Site_p.K1017R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1017	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.K1017R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTTTTGCAGAAAGGAGAGCTG	0.418																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											99	92	95					1																	185958621		2203	4300	6503	184225244	SO:0001630	splice_region_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3049-1A>G	1.37:g.185958621A>G		672	0.15	1					184225244	361	48.58	341	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,PatternScan_CECROPIN,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00179,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_I-set,HMMPfam_ig,PatternScan_EGF_CA,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_EGF/Laminin	p.K1017R	ENST00000271588.4	37	c.3050	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	17.93	3.509817	0.64522	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39229	1.09;1.09	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.256199	0.41396	D	0.000895	T	0.51890	0.1701	L	0.33189	0.99	0.34928	D	0.749091	B;D	0.71674	0.054;0.998	B;D	0.72338	0.049;0.977	T	0.58222	-0.7674	10	0.24483	T	0.36	.	15.542	0.76057	1.0:0.0:0.0:0.0	.	401;1017	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	R	1017	ENSP00000271588:K1017R;ENSP00000356462:K1017R	ENSP00000271588:K1017R	K	+	2	0	HMCN1	184225244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.593000	0.61034	2.064000	0.61679	0.533000	0.62120	AAA	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	A	NM_031935	Missense_Mutation	184225244	1	no_errors	NM_031935.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	185958621	A	G	185958621	5	3	156	1	0	0	0	0	0	0	1	0	7220	28	1	3	3132	3	HMCN1	1	185958621	Splice_Site	SNP	A	TCGA-AB-2972-03A-01D-0739-09	34411830	185958621	63292000	2	1763											
ASTL	431705	genome.wustl.edu	37	2	96801149	96801149	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr2:96801149G>A	ENST00000342380.2	-	3	183	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)									p.L62F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TCCAGGATGAGCCCTGGGAAA	0.557																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											87	73	78					2																	96801149		2203	4300	6503	96164876	SO:0001583	missense	0			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"sperm acrosomal SLLP1 binding"	608860	"astacin-like metalloendopeptidase (M12 family)"			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.184C>T	2.37:g.96801149G>A	ENSP00000343674:p.Leu62Phe	664	0.15	1		1	80	4	96164876	126	36.95	75		Missense_Mutation	SNP	HMMPfam_Astacin,HMMSmart_SM00235,superfamily_Metalloproteases ("zincins") catalytic domain	p.L62F	ENST00000342380.2	37	c.184	CCDS33249.1	2	.	.	.	.	.	.	.	.	.	.	G	15.62	2.887330	0.52014	.	.	ENSG00000188886	ENST00000342380	T	0.67865	-0.29	4.42	3.52	0.40303	.	0.000000	0.34777	N	0.003687	T	0.68284	0.2984	L	0.34521	1.04	0.28884	N	0.894255	D	0.76494	0.999	D	0.69307	0.963	T	0.61667	-0.7016	10	0.72032	D	0.01	-21.1592	7.6898	0.28561	0.1152:0.0:0.8848:0.0	.	62	Q6HA08	ASTL_HUMAN	F	62	ENSP00000343674:L62F	ENSP00000343674:L62F	L	-	1	0	ASTL	96164876	0.997000	0.39634	1.000000	0.80357	0.447000	0.32167	3.118000	0.50414	2.220000	0.72140	0.650000	0.86243	CTC	-	NULL		0.557	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	protein_coding	OTTHUMT00000338801.1	G			96164876	-1	no_errors	NM_001002036.3	genbank	human	validated	54_36p	missense	SNP	0.996	A	A	96801149	G	A	96801149	3	1	156	1	0	0	0	0	1	0	0	0	1063	971	34	2	1138	2	ASTL	2	96801149	Missense_Mutation	SNP	G	TCGA-AB-2972-03A-01D-0739-09		96801149	146398224	3	1764											
DNAH5	1767	genome.wustl.edu	37	5	13894834	13894834	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr5:13894834G>T	ENST00000265104.4	-	16	2460	c.2356C>A	c.(2356-2358)Caa>Aaa	p.Q786K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	786	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q786K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGCCAGGTTGGAGAGCTTCA	0.423									Kartagener syndrome																													dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											170	158	162					5																	13894834		2203	4300	6503	13947834	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"Axonemal dyneins"	2950	protein-coding gene	gene with protein product	"dynein heavy chain 5"	603335	"dynein, axonemal, heavy polypeptide 5"			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2356C>A	5.37:g.13894834G>T	ENSP00000265104:p.Gln786Lys	1142	0.17	2					13947834	577	44.73	467	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin,superfamily_SSF52540	p.Q786K	ENST00000265104.4	37	c.2356	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	6.853	0.526663	0.13066	.	.	ENSG00000039139	ENST00000265104	T	0.52295	0.67	5.44	5.44	0.79542	Dynein heavy chain, domain-1 (1);	0.053883	0.85682	D	0.000000	T	0.37732	0.1014	L	0.38953	1.18	0.58432	D	0.999999	B	0.06786	0.001	B	0.14023	0.01	T	0.33624	-0.9861	10	0.02654	T	1	.	19.2435	0.93893	0.0:0.0:1.0:0.0	.	786	Q8TE73	DYH5_HUMAN	K	786	ENSP00000265104:Q786K	ENSP00000265104:Q786K	Q	-	1	0	DNAH5	13947834	1.000000	0.71417	0.975000	0.42487	0.639000	0.38242	8.975000	0.93437	2.551000	0.86045	0.491000	0.48974	CAA	-	HMMPfam_DHC_N1		0.423	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13947834	-1	no_errors	NM_001369.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	13894834	G	T	13894834	3	4	156	1	0	0	0	0	1	0	0	0	4604	1357	47	4	11774	4	DNAH5	5	13894834	Missense_Mutation	SNP	G	TCGA-AB-2972-03A-01D-0739-09		13894834	167020426	4	1765											
RNASEN	29102	genome.wustl.edu	37	5	31409392	31409392	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr5:31409392T>A	ENST00000511367.2	-	31	3959	c.3715A>T	c.(3715-3717)Act>Tct	p.T1239S	DROSHA_ENST00000344624.3_Missense_Mutation_p.T1239S|DROSHA_ENST00000513349.1_Missense_Mutation_p.T1202S|DROSHA_ENST00000442743.1_Missense_Mutation_p.T1202S	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	1239	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.T1239S(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TTCATGAAAGTATGAACATAT	0.348																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											60	52	54					5																	31409392		1834	4092	5926	31445149	SO:0001583	missense	0			AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"drosha, ribonuclease type III", "drosha, double-stranded RNA-specific endoribonuclease"	608828	"ribonuclease type III, nuclear"	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.3715A>T	5.37:g.31409392T>A	ENSP00000425979:p.Thr1239Ser	743	0.13	1		35	43.55	27	31445149	308	44.22	245	E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	HMMPfam_Ribonuclease_3,HMMSmart_SM00535,PatternScan_RNASE_3_1,superfamily_RNase III catalytic domain-like (Pfam 00636),HMMPfam_dsrm,HMMSmart_SM00358,superfamily_dsRNA-binding domain-like	p.T1239S	ENST00000511367.2	37	c.3715	CCDS47195.1	5	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282234	0.40394	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.34	5.34	0.76211	Ribonuclease III (3);	0.105501	0.64402	D	0.000005	T	0.27349	0.0671	N	0.11927	0.2	0.58432	D	0.999998	B;B	0.22414	0.069;0.005	B;B	0.24394	0.053;0.024	T	0.07712	-1.0758	10	0.22706	T	0.39	-17.5653	15.3311	0.74212	0.0:0.0:0.0:1.0	.	1202;1239	E7EMP9;Q9NRR4	.;RNC_HUMAN	S	1239;1239;1202;1202;1164	ENSP00000425979:T1239S;ENSP00000339845:T1239S;ENSP00000409335:T1202S;ENSP00000424161:T1202S	ENSP00000265075:T1164S	T	-	1	0	DROSHA	31445149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.235000	0.78143	2.030000	0.59900	0.533000	0.62120	ACT	-	HMMSmart_SM00535,superfamily_RNase III catalytic domain-like (Pfam 00636)		0.348	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEN	protein_coding	OTTHUMT00000366561.3	T	NM_013235		31445149	-1	no_errors	NM_013235.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	31409392	T	A	31409392	3	1	156	1	0	0	0	0	1	0	0	0	13417	1638	57	5	429	5	RNASEN	5	31409392	Missense_Mutation	SNP	T	TCGA-AB-2972-03A-01D-0739-09	17514558	31409392	149505868	5	1766											
DOCK2	1794	genome.wustl.edu	37	5	169127134	169127134	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr5:169127134A>G	ENST00000256935.8	+	13	1329	c.1249A>G	c.(1249-1251)Atc>Gtc	p.I417V		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	417					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.I417V(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCAGAGATCATCATGCCAGG	0.522																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											136	126	129					5																	169127134		2203	4300	6503	169059712	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"dedicator of cyto-kinesis 2"				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.1249A>G	5.37:g.169127134A>G	ENSP00000256935:p.Ile417Val	877	0.23	2		50	41.86	36	169059712	451	40.21	304	Q2M3I0|Q96AK7	Missense_Mutation	SNP	HMMSmart_SM00326,superfamily_SH3-domain,superfamily_Cytochrome c,HMMPfam_SH3_2	p.I417V	ENST00000256935.8	37	c.1249	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	28.8	4.948708	0.92660	.	.	ENSG00000134516	ENST00000256935	T	0.05199	3.48	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.16428	0.0395	M	0.92026	3.265	0.80722	D	1	P	0.47350	0.894	B	0.40410	0.328	T	0.13629	-1.0502	10	0.33940	T	0.23	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	417	Q92608	DOCK2_HUMAN	V	417	ENSP00000256935:I417V	ENSP00000256935:I417V	I	+	1	0	DOCK2	169059712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.063000	0.93927	2.246000	0.74042	0.533000	0.62120	ATC	-	NULL		0.522	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	protein_coding	OTTHUMT00000252828.2	A	NM_004946		169059712	1	no_errors	NM_004946.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	169127134	A	G	169127134	3	3	156	1	0	0	0	0	1	0	0	0	4687	217	8	3	1299	3	DOCK2	5	169127134	Missense_Mutation	SNP	A	TCGA-AB-2972-03A-01D-0739-09	137717742	169127134	11788126	6	1767											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	156	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2972-03A-01D-0739-09	1710413	170837547	10077713	7	1768											
KIAA0240	23506	genome.wustl.edu	37	6	42797687	42797687	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr6:42797687G>A	ENST00000314073.5	+	6	1792	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.R539Q			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	539								p.R539Q(1)									GGACCTAGTCGGTTCCCTGCT	0.547																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											102	85	91					6																	42797687		2203	4300	6503	42905665	SO:0001583	missense	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1616G>A	6.37:g.42797687G>A	ENSP00000313933:p.Arg539Gln	794	0.5	4		19	38.71	12	42905665	312	43.63	243	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.R539Q	ENST00000314073.5	37	c.1616	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068463	0.76301	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.46819	0.86;0.86	6.07	6.07	0.98685	.	0.091159	0.48767	N	0.000171	T	0.55289	0.1911	L	0.51422	1.61	0.54753	D	0.999985	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.83275	0.986;0.996;0.996	T	0.32161	-0.9917	10	0.15066	T	0.55	-25.061	20.6593	0.99626	0.0:0.0:1.0:0.0	.	539;539;539	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	Q	539	ENSP00000313933:R539Q;ENSP00000377723:R539Q	ENSP00000313933:R539Q	R	+	2	0	KIAA0240	42905665	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.562000	0.82300	2.885000	0.99019	0.655000	0.94253	CGG	-	NULL		0.547	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	protein_coding	OTTHUMT00000040562.3	G	NM_015349		42905665	1	no_errors	NM_015349.1	genbank	human	validated	54_36p	missense	SNP	0.988	A	A	42797687	G	A	42797687	3	1	156	1	0	0	0	0	1	0	0	0	8164	1116	39	1	1630	1	KIAA0240	6	42797687	Missense_Mutation	SNP	G	TCGA-AB-2972-03A-01D-0739-09		42797687	128317380	8	1769											
RIMS1	22999	genome.wustl.edu	37	6	72806854	72806854	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr6:72806854C>T	ENST00000521978.1	+	3	448	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	RIMS1_ENST00000264839.7_Missense_Mutation_p.R150W|RIMS1_ENST00000348717.5_Missense_Mutation_p.R150W|RIMS1_ENST00000517960.1_Missense_Mutation_p.R150W|RIMS1_ENST00000518273.1_Missense_Mutation_p.R150W|RIMS1_ENST00000520567.1_Missense_Mutation_p.R150W|RIMS1_ENST00000491071.2_Missense_Mutation_p.R150W|RIMS1_ENST00000522291.1_Missense_Mutation_p.R150W	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	150	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				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)	p.R150W(1)		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)				CGTGTCTCTACGGTCAAACAA	0.468																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											71	74	73					6																	72806854		2085	4229	6314	72863575	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.448C>T	6.37:g.72806854C>T	ENSP00000428417:p.Arg150Trp	685	0	0					72863575	522	19.85	130	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.R150W	ENST00000521978.1	37	c.448	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	32	5.155237	0.94686	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.81	5.81	0.92471	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.52532	D	0.000074	D	0.88930	0.6571	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89543	0.3794	10	0.87932	D	0	-13.5863	20.0804	0.97772	0.0:1.0:0.0:0.0	.	150	Q86UR5	RIMS1_HUMAN	W	150	ENSP00000430101:R150W;ENSP00000275037:R150W;ENSP00000264839:R150W;ENSP00000429959:R150W;ENSP00000430408:R150W;ENSP00000430502:R150W;ENSP00000430932:R150W;ENSP00000428417:R150W	ENSP00000264839:R150W	R	+	1	2	RIMS1	72863575	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	4.719000	0.61937	2.738000	0.93877	0.655000	0.94253	CGG	-	superfamily_FYVE/PHD zinc finger		0.468	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	protein_coding	OTTHUMT00000374968.1	C			72863575	1	no_errors	NM_014989.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	72806854	C	T	72806854	3	4	156	1	0	0	0	0	1	0	0	0	13367	527	19	1	458	1	RIMS1	6	72806854	Missense_Mutation	SNP	C	TCGA-AB-2972-03A-01D-0739-09	30009167	72806854	98308213	9	1770											
CALD1	800	genome.wustl.edu	37	7	134613518	134613518	+	Silent	SNP	A	A	C			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr7:134613518A>C	ENST00000361675.2	+	4	314	c.85A>C	c.(85-87)Agg>Cgg	p.R29R	CALD1_ENST00000361901.2_Silent_p.R29R|CALD1_ENST00000495522.1_Silent_p.R23R|CALD1_ENST00000393118.2_Silent_p.R23R|CALD1_ENST00000361388.2_Silent_p.R29R|CALD1_ENST00000417172.1_Silent_p.R29R|CALD1_ENST00000424922.1_Silent_p.R23R|CALD1_ENST00000422748.1_Silent_p.R29R|CALD1_ENST00000543443.1_Silent_p.R34R			Q05682	CALD1_HUMAN	caldesmon 1	29	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.R29R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CGCCTACCAGAGGAATGACGA	0.582																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	7											51	47	49					7																	134613518		2203	4300	6503	134264058	SO:0001819	synonymous_variant	0			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.85A>C	7.37:g.134613518A>C		790	1	8		3	0	0	134264058	264	45.9	224	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	HMMPfam_Caldesmon,PatternScan_PHOSPHOPANTETHEINE	p.R29	ENST00000361675.2	37	c.85	CCDS5835.1	7																																																																																			-	HMMPfam_Caldesmon		0.582	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	CALD1	protein_coding	OTTHUMT00000339939.1	A	NM_033138		134264058	1	no_errors	NM_033138.5	genbank	human	reviewed	54_36p	silent	SNP	1.000	C	C	134613518	A	C	134613518	2	2	156	1	0	0	0	0	0	0	0	1	2581	295	11	5		5	CALD1	7	134613518	Silent	SNP	A	TCGA-AB-2972-03A-01D-0739-09		134613518	24525145	10	1771											
LARP4B	23185	genome.wustl.edu	37	10	871204	871204	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr10:871204G>A	ENST00000316157.3	-	12	1325	c.1285C>T	c.(1285-1287)Cct>Tct	p.P429S		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	429					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)	p.P429S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						AATAACCCAGGTCCCCTCTCT	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											111	119	116					10																	871204		2203	4300	6503	861204	SO:0001583	missense	0			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"La ribonucleoprotein domain containing"	28987	protein-coding gene	gene with protein product			"KIAA0217", "La ribonucleoprotein domain family, member 5"	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1285C>T	10.37:g.871204G>A	ENSP00000326128:p.Pro429Ser	561	0.18	1		56	49.55	55	861204	285	27.04	106	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Missense_Mutation	SNP	HMMPfam_La,HMMSmart_SM00715,superfamily_"Winged helix" DNA-binding domain	p.P429S	ENST00000316157.3	37	c.1285	CCDS31131.1	10	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235793	0.22626	.	.	ENSG00000107929	ENST00000316157	T	0.30981	1.51	5.57	3.71	0.42584	.	0.198228	0.53938	N	0.000041	T	0.14874	0.0359	N	0.10972	0.075	0.49582	D	0.999806	B	0.14012	0.009	B	0.12156	0.007	T	0.07065	-1.0792	10	0.30854	T	0.27	-12.9374	7.0614	0.25127	0.0682:0.1257:0.6757:0.1304	.	429	Q92615	LAR4B_HUMAN	S	429	ENSP00000326128:P429S	ENSP00000326128:P429S	P	-	1	0	LARP4B	861204	1.000000	0.71417	0.984000	0.44739	0.729000	0.41735	1.490000	0.35573	0.718000	0.32166	0.655000	0.94253	CCT	-	NULL		0.398	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP5	protein_coding	OTTHUMT00000046395.2	G	NM_015155		861204	-1	no_errors	NM_015155.1	genbank	human	provisional	54_36p	missense	SNP	0.992	A	A	871204	G	A	871204	3	1	156	1	0	0	0	0	1	0	0	0	8631	1261	44	2	955	2	LARP4B	10	871204	Missense_Mutation	SNP	G	TCGA-AB-2972-03A-01D-0739-09		871204	134663543	11	1772											
C10orf118	55088	genome.wustl.edu	37	10	115891901	115891901	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr10:115891901A>C	ENST00000369287.3	-	11	1964	c.1698T>G	c.(1696-1698)agT>agG	p.S566R	C10orf118_ENST00000497592.1_5'Flank|C10orf118_ENST00000543782.1_Missense_Mutation_p.S164R	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		566								p.S566R(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AAGAATTAAGACTTTCCACTT	0.294																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											62	59	60					10																	115891901		2201	4300	6501	115881891	SO:0001583	missense	0																														ENST00000369287.3:c.1698T>G	10.37:g.115891901A>C	ENSP00000358293:p.Ser566Arg	514	0.39	2		15	34.78	8	115881891	230	48.43	216	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	superfamily_Prefoldin	p.S566R	ENST00000369287.3	37	c.1698	CCDS7587.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.61|11.61	1.689822|1.689822	0.29962|0.29962	.|.	.|.	ENSG00000165813|ENSG00000165813	ENST00000428953|ENST00000369287;ENST00000543782;ENST00000430353	T|T;T	0.76186|0.29655	-1.0|1.56;1.56	5.79|5.79	4.66|4.66	0.58398|0.58398	.|.	0.175388|0.175388	0.64402|0.64402	D|D	0.000010|0.000010	T|T	0.28101|0.28101	0.0693|0.0693	L|L	0.41236|0.41236	1.265|1.265	0.35085|0.35085	D|D	0.763786|0.763786	.|P;P	.|0.49090	.|0.859;0.919	.|B;P	.|0.46275	.|0.316;0.51	T|T	0.32955|0.32955	-0.9887|-0.9887	8|10	0.10902|0.25106	T|T	0.67|0.35	.|.	9.7544|9.7544	0.40494|0.40494	0.921:0.0:0.079:0.0|0.921:0.0:0.079:0.0	.|.	.|164;566	.|F6VCB7;Q7Z3E2	.|.;CJ118_HUMAN	A|R	195|566;164;672	ENSP00000415344:S195A|ENSP00000358293:S566R;ENSP00000441576:S164R	ENSP00000415344:S195A|ENSP00000358293:S566R	S|S	-|-	1|3	0|2	C10orf118|C10orf118	115881891|115881891	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.327000|2.327000	0.43858|0.43858	1.039000|1.039000	0.40074|0.40074	0.529000|0.529000	0.55759|0.55759	TCT|AGT	-	superfamily_Prefoldin		0.294	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	protein_coding	OTTHUMT00000050455.1	A			115881891	-1	no_errors	NM_018017.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	115891901	A	C	115891901	3	2	156	1	0	0	0	0	1	0	0	0	1587	272	10	5	1022	5	C10orf118	10	115891901	Missense_Mutation	SNP	A	TCGA-AB-2972-03A-01D-0739-09	115020697	115891901	19642846	12	1773											
FRMD8	83786	genome.wustl.edu	37	11	65161099	65161099	+	Silent	SNP	G	G	A			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr11:65161099G>A	ENST00000317568.5	+	4	472	c.309G>A	c.(307-309)gaG>gaA	p.E103E	FRMD8_ENST00000416776.2_Intron|FRMD8_ENST00000355991.5_Silent_p.E47E	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	103	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)		p.E103E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						AGTGGCCGGAGCTGCTGCTGC	0.647																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	11											74	57	63					11																	65161099		2201	4297	6498	64917675	SO:0001819	synonymous_variant	0			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.309G>A	11.37:g.65161099G>A		793	0.25	2		8	50	8	64917675	136	54.9	168	B4E2P1|Q86V56|Q8NCB5	Silent	SNP	HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295	p.E103	ENST00000317568.5	37	c.309	CCDS8102.1	11																																																																																			-	HMMSmart_SM00295		0.647	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD8	protein_coding	OTTHUMT00000388833.1	G	NM_031904		64917675	1	no_errors	NM_031904.3	genbank	human	validated	54_36p	silent	SNP	0.999	A	A	65161099	G	A	65161099	2	1	156	1	0	0	0	0	0	0	0	1	6056	962	34	2		2	FRMD8	11	65161099	Silent	SNP	G	TCGA-AB-2972-03A-01D-0739-09		65161099	69845417	13	1774											
PTPN11	5781	genome.wustl.edu	37	12	112926884	112926884	+	Missense_Mutation	SNP	T	T	C	rs121918458		TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr12:112926884T>C	ENST00000351677.2	+	13	1702	c.1504T>C	c.(1504-1506)Tca>Cca	p.S502P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	506	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		R -> L (in LEOPARD1). {ECO:0000269|PubMed:15121796}.|R -> W (in LEOPARD1; reduced phosphatase activity). {ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:24891296}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.S502P(6)|p.S502A(1)|p.S502T(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTCTCAGAGGTCAGGGATGGT	0.468			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome																													dbGAP		Dom	yes		12	12q24.1	5781	"protein tyrosine phosphatase, non-receptor type 11"	yes	L	8	Substitution - Missense(8)	haematopoietic_and_lymphoid_tissue(8)	12	GRCh37	CM022450|CM055504	PTPN11	M	rs121918458						179	167	171					12																	112926884		2203	4300	6503	111411267	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor", "SH2 domain containing"	9644	protein-coding gene	gene with protein product		176876	"Noonan syndrome 1"	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1504T>C	12.37:g.112926884T>C	ENSP00000340944:p.Ser502Pro	1221	0.08	1		20	39.39	13	111411267	570	25.16	192	A8K1D9|Q96HD7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_SH2,HMMSmart_SM00252,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_SH2 domain	p.S502P	ENST00000351677.2	37	c.1504	CCDS9163.1	12	.	.	.	.	.	.	.	.	.	.	T	32	5.127809	0.94473	.	.	ENSG00000179295	ENST00000351677	D	0.98978	-5.29	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	L	0.41573	1.285	0.80722	D	1	P	0.41214	0.742	P	0.46479	0.518	D	0.98427	1.0580	10	0.45353	T	0.12	.	15.2256	0.73348	0.0:0.0:0.0:1.0	.	502	Q06124-2	.	P	502	ENSP00000340944:S502P	ENSP00000340944:S502P	S	+	1	0	PTPN11	111411267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.064000	0.61679	0.528000	0.53228	TCA	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,superfamily_(Phosphotyrosine protein) phosphatases II		0.468	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN11	protein_coding	OTTHUMT00000259496.2	T			111411267	1	no_errors	NM_002834.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	112926884	T	C	112926884	3	2	156	1	0	0	0	0	1	0	0	0	12780	1667	58	3	1554	3	PTPN11	12	112926884	Missense_Mutation	SNP	T	TCGA-AB-2972-03A-01D-0739-09		112926884	20925011	14	1775											
FANCI	55215	genome.wustl.edu	37	15	89847119	89847119	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr15:89847119T>A	ENST00000310775.7	+	28	3117	c.3031T>A	c.(3031-3033)Tca>Aca	p.S1011T	FANCI_ENST00000300027.8_Missense_Mutation_p.S951T	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1011					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.S951T(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATCCTGGACATCAAAGATTTG	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	15											98	102	101					15																	89847119		2200	4299	6499	87648123	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"Fanconi anemia, complementation groups"	25568	protein-coding gene	gene with protein product		611360	"KIAA1794"	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.3031T>A	15.37:g.89847119T>A	ENSP00000310842:p.Ser1011Thr	605	0.82	5		17	65.31	32	87648123	225	43.95	178	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.S951T	ENST00000310775.7	37	c.2851	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	T	5.357	0.251087	0.10130	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.69435	-0.4;-0.39;0.33	6.03	-5.54	0.02544	.	0.760396	0.12804	N	0.437780	T	0.43722	0.1260	L	0.34521	1.04	0.09310	N	1	B;B;B	0.31625	0.029;0.332;0.332	B;B;B	0.29440	0.029;0.102;0.102	T	0.36841	-0.9731	10	0.18276	T	0.48	0.5435	7.4	0.26958	0.5194:0.0:0.2712:0.2094	.	1011;951;951	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	T	951;1011;951	ENSP00000300027:S951T;ENSP00000310842:S1011T;ENSP00000413249:S951T	ENSP00000300027:S951T	S	+	1	0	FANCI	87648123	0.043000	0.20138	0.000000	0.03702	0.546000	0.35178	1.474000	0.35398	-0.421000	0.07416	-0.509000	0.04479	TCA	-	NULL		0.373	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	protein_coding	OTTHUMT00000421140.1	T	NM_018193		87648123	1	no_errors	NM_018193.1	genbank	human	reviewed	54_36p	missense	SNP	0.084	A	A	89847119	T	A	89847119	3	1	156	1	0	0	0	0	1	0	0	0	5669	1435	50	5	3137	5	FANCI	15	89847119	Missense_Mutation	SNP	T	TCGA-AB-2972-03A-01D-0739-09		89847119	12684273	15	1776											
DNAH3	55567	genome.wustl.edu	37	16	20994057	20994057	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr16:20994057G>C	ENST00000261383.3	-	49	7844	c.7845C>G	c.(7843-7845)gaC>gaG	p.D2615E	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2615	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.D2615E(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCGAATGTTGTCATCAAGCT	0.423																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	16											72	69	70					16																	20994057		2201	4300	6501	20901558	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"Axonemal dyneins"	2949	protein-coding gene	gene with protein product		603334	"dynein, axonemal, heavy polypeptide 3"			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7845C>G	16.37:g.20994057G>C	ENSP00000261383:p.Asp2615Glu	600	0	0		0	0	0	20901558	195	47.15	174	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,superfamily_Prefoldin,HMMPfam_AAA_5,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.D2615E	ENST00000261383.3	37	c.7845	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	8.385	0.838429	0.16891	.	.	ENSG00000158486	ENST00000261383	T	0.41400	1.0	5.83	1.14	0.20703	Dynein heavy chain, P-loop containing D4 domain (1);	0.061098	0.64402	N	0.000007	T	0.18002	0.0432	N	0.16862	0.45	0.58432	D	0.99999	P	0.39576	0.679	B	0.36959	0.237	T	0.26292	-1.0107	10	0.02654	T	1	.	6.4569	0.21934	0.3338:0.1358:0.5304:0.0	.	2615	Q8TD57	DYH3_HUMAN	E	2615	ENSP00000261383:D2615E	ENSP00000261383:D2615E	D	-	3	2	DNAH3	20901558	0.986000	0.35501	0.968000	0.41197	0.799000	0.45148	1.433000	0.34947	0.359000	0.24239	0.655000	0.94253	GAC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.423	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	G	NM_017539		20901558	-1	no_errors	NM_017539.1	genbank	human	provisional	54_36p	missense	SNP	0.829	C	C	20994057	G	C	20994057	3	2	156	1	0	0	0	0	1	0	0	0	4603	1368	48	4	4560	4	DNAH3	16	20994057	Missense_Mutation	SNP	G	TCGA-AB-2972-03A-01D-0739-09		20994057	69360696	16	1777											
ZC3H18	124245	genome.wustl.edu	37	16	88688690	88688690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr16:88688690C>T	ENST00000301011.5	+	9	1761	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.R545*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	521						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R521*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTTGGCGCCGATCCAAGTC	0.602																																					Ovarian(121;375 2276 20373 38669)	dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	16											54	56	55					16																	88688690		2198	4300	6498	87216191	SO:0001587	stop_gained	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"Zinc fingers, CCCH-type domain containing"	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.1561C>T	16.37:g.88688690C>T	ENSP00000301011:p.Arg521*	299	0	0		26	18.75	6	87216191	83	43.15	63	Q96DG4|Q96MP7	Nonsense_Mutation	SNP	HMMPfam_zf-CCCH,HMMSmart_SM00356	p.R521*	ENST00000301011.5	37	c.1561	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	C	41	9.031677	0.99042	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.022	19.7135	0.96105	0.0:1.0:0.0:0.0	.	.	.	.	X	521;489;545	.	ENSP00000289509:R489X	R	+	1	2	ZC3H18	87216191	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.482000	0.66833	2.769000	0.95229	0.655000	0.94253	CGA	-	NULL		0.602	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	protein_coding	OTTHUMT00000269168.1	C	NM_144604		87216191	1	no_errors	NM_144604.2	genbank	human	provisional	54_36p	nonsense	SNP	1.000	T	T	88688690	C	T	88688690	4	4	156	1	0	0	0	0	0	1	0	0	17565	644	23	1	1591	1	ZC3H18	16	88688690	Nonsense_Mutation	SNP	C	TCGA-AB-2972-03A-01D-0739-09	67694633	88688690	1666063	17	1778											
CACNA1A	773	genome.wustl.edu	37	19	13370431	13370431	+	Silent	SNP	C	C	T			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr19:13370431C>T	ENST00000360228.5	-	27	4334	c.4335G>A	c.(4333-4335)gtG>gtA	p.V1445V	CACNA1A_ENST00000573710.2_Silent_p.V1446V	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1446					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)	p.V1446V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCCCACAGCACATTGTCGT	0.562																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	19											58	61	60					19																	13370431		1993	4151	6144	13231431	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4335G>A	19.37:g.13370431C>T		1009	0.88	9		0	0	0	13231431	295	41.72	214	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.V1446	ENST00000360228.5	37	c.4338	CCDS45998.1	19																																																																																			-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.562	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	protein_coding	OTTHUMT00000104062.2	C	NM_000068		13231431	-1	no_errors	ENST00000325084	ensembl	human	known	54_36p	silent	SNP	1.000	T	T	13370431	C	T	13370431	2	4	156	1	0	0	0	0	0	0	0	1	2538	697	25	2		2	CACNA1A	19	13370431	Silent	SNP	C	TCGA-AB-2972-03A-01D-0739-09		13370431	45758552	18	1779											
CYP4F8	11283	genome.wustl.edu	37	19	15739592	15739592	+	RNA	SNP	G	G	A	rs370130539		TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr19:15739592G>A	ENST00000441682.2	+	0	1397							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.D445N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CTTCCGCTTCGACCCAGAAAA	0.602																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											59	63	61					19																	15739592		1972	4160	6132	15600592			0			AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"Cytochrome P450s"	2648	protein-coding gene	gene with protein product		611545	"cytochrome P450, subfamily IVF, polypeptide 8"			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739592G>A		466	0	0					15600592	131	42.11	96		Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome P450,PatternScan_CYTOCHROME_P450	p.D445N	ENST00000441682.2	37	c.1333		19	.	.	.	.	.	.	.	.	.	.	.	11.29	1.593807	0.28445	.	.	ENSG00000186526	ENST00000441682;ENST00000325723	.	.	.	3.32	2.27	0.28462	.	0.063724	0.64402	N	0.000013	T	0.40372	0.1114	.	.	.	0.43622	D	0.996008	P;B	0.35821	0.523;0.381	B;B	0.40940	0.344;0.159	T	0.51180	-0.8738	7	0.41790	T	0.15	.	8.1475	0.31121	0.1253:0.0:0.8747:0.0	.	258;446	B4DU85;P98187	.;CP4F8_HUMAN	N	445;258	.	ENSP00000314398:D258N	D	+	1	0	CYP4F8	15600592	1.000000	0.71417	0.615000	0.29064	0.340000	0.28889	4.794000	0.62482	0.595000	0.29777	0.436000	0.28706	GAC	-	HMMPfam_p450,superfamily_Cytochrome P450		0.602	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	processed_transcript		G	NM_007253		15600592	1	no_errors	ENST00000325723	ensembl	human	known	54_36p	missense	SNP	0.996	A	A	15739592	G	A	15739592	1	1	156	0	1	0	0	0	0	0	0	0	4191	1058	37	1		1	CYP4F8	19	15739592	RNA	SNP	G	TCGA-AB-2972-03A-01D-0739-09	2369161	15739592	43389391	19	1780											
ZNF43	7594	genome.wustl.edu	37	19	21991712	21991712	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr19:21991712C>T	ENST00000354959.4	-	4	1296	c.1127G>A	c.(1126-1128)gGt>gAt	p.G376D	ZNF43_ENST00000595461.1_Missense_Mutation_p.G370D|ZNF43_ENST00000598381.1_Missense_Mutation_p.G370D|ZNF43_ENST00000594012.1_Missense_Mutation_p.G370D	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	376					regulation of transcription, DNA-templated (GO:0006355)|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)	p.G376D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AAAAGCTTCACCACATTCTGT	0.363																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											64	65	64					19																	21991712		2203	4300	6503	21783552	SO:0001583	missense	0			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"Zinc fingers, C2H2-type", "-"	13109	protein-coding gene	gene with protein product		603972	"zinc finger protein 39-like 1 (KOX 27)", "zinc finger protein 43 (HTF6)"	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1127G>A	19.37:g.21991712C>T	ENSP00000347045:p.Gly376Asp	785	0	0		25	56.9	33	21783552	235	48.91	225	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.G376D	ENST00000354959.4	37	c.1127	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898796	0.33535	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.58358	0.34	1.86	-0.966	0.10320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42086	0.1187	N	0.21508	0.67	0.27728	N	0.944907	P	0.43788	0.817	P	0.49192	0.602	T	0.37244	-0.9714	9	0.56958	D	0.05	.	5.1945	0.15230	0.0:0.6498:0.2092:0.141	.	376	P17038	ZNF43_HUMAN	D	375;376	ENSP00000347045:G376D	ENSP00000347045:G376D	G	-	2	0	ZNF43	21783552	0.063000	0.20901	0.000000	0.03702	0.000000	0.00434	0.930000	0.28858	-0.319000	0.08652	-0.687000	0.03738	GGT	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.363	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	protein_coding	OTTHUMT00000250380.2	C	NM_003423		21783552	-1	no_errors	NM_003423.2	genbank	human	validated	54_36p	missense	SNP	0.636	T	T	21991712	C	T	21991712	3	4	156	1	0	0	0	0	1	0	0	0	17900	507	18	2	1306	2	ZNF43	19	21991712	Missense_Mutation	SNP	C	TCGA-AB-2972-03A-01D-0739-09	6252120	21991712	37137271	20	1781											
SFRS6	6431	genome.wustl.edu	37	20	42088521	42088521	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr20:42088521T>A	ENST00000244020.3	+	3	473	c.367T>A	c.(367-369)Tgg>Agg	p.W123R		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	123	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)	p.W123R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TCGGTGCAGTTGGCAAGATTT	0.348																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20											127	121	123					20																	42088521		2203	4300	6503	41521935	SO:0001583	missense	0			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"Serine/arginine-rich splicing factors", "RNA binding motif (RRM) containing"	10788	protein-coding gene	gene with protein product	"pre-mRNA splicing factor SRP55", "SR splicing factor 6"	601944	"splicing factor, arginine/serine-rich 6"	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.367T>A	20.37:g.42088521T>A	ENSP00000244020:p.Trp123Arg	571	0.17	1		136	56.47	179	41521935	226	26.14	80	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.W123R	ENST00000244020.3	37	c.367	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	T	12.39	1.923858	0.34002	.	.	ENSG00000124193	ENST00000244020	T	0.15372	2.43	5.86	4.75	0.60458	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.92833	3.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.60757	-0.7200	10	0.87932	D	0	.	12.3072	0.54908	0.0:0.0:0.1419:0.8581	.	123;123	Q13247;A8K588	SRSF6_HUMAN;.	R	123	ENSP00000244020:W123R	ENSP00000244020:W123R	W	+	1	0	SRSF6	41521935	1.000000	0.71417	1.000000	0.80357	0.439000	0.31926	7.609000	0.82925	1.026000	0.39733	-0.438000	0.05819	TGG	-	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD		0.348	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRS6	protein_coding	OTTHUMT00000079292.1	T	NM_006275		41521935	1	no_errors	NM_006275.5	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	42088521	T	A	42088521	3	1	156	1	0	0	0	0	1	0	0	0	14181	1812	63	5	377	5	SFRS6	20	42088521	Missense_Mutation	SNP	T	TCGA-AB-2972-03A-01D-0739-09		42088521	20936999	21	1782											
MORC3	23515	genome.wustl.edu	37	21	37711165	37711165	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chr21:37711165T>C	ENST00000400485.1	+	5	630	c.554T>C	c.(553-555)cTt>cCt	p.L185P	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	185					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)	p.L185P(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTGGCAGAACTTGATGCTATT	0.418																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	21											178	158	164					21																	37711165		1928	4137	6065	36633035	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"zinc finger, CW-type with coiled-coil domain 3", "zinc finger, CW type with coiled-coil domain 3"	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.554T>C	21.37:g.37711165T>C	ENSP00000383333:p.Leu185Pro	1179	0.08	1		59	42.16	43	36633035	290	44.25	231	A8KA92|Q9UEZ2	Missense_Mutation	SNP	HMMPfam_HATPase_c,superfamily_ATP_bd_ATPase,HMMPfam_zf-CW	p.L185P	ENST00000400485.1	37	c.554	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	T	26.7	4.765428	0.90020	.	.	ENSG00000159256	ENST00000400485	T	0.16897	2.31	5.44	5.44	0.79542	ATPase-like, ATP-binding domain (1);	0.129557	0.52532	D	0.000066	T	0.37625	0.1010	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.05022	-1.0911	9	.	.	.	-14.8269	15.1685	0.72850	0.0:0.0:0.0:1.0	.	185	Q14149	MORC3_HUMAN	P	185	ENSP00000383333:L185P	.	L	+	2	0	MORC3	36633035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.880000	0.87243	2.061000	0.61500	0.482000	0.46254	CTT	-	superfamily_ATP_bd_ATPase		0.418	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	protein_coding	OTTHUMT00000194640.1	T	NM_015358		36633035	1	no_errors	NM_015358.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	37711165	T	C	37711165	3	2	156	1	0	0	0	0	1	0	0	0	9703	1609	56	3	572	3	MORC3	21	37711165	Missense_Mutation	SNP	T	TCGA-AB-2972-03A-01D-0739-09		37711165	10418730	22	1783											
ATP1B4	23439	genome.wustl.edu	37	X	119505057	119505057	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chrX:119505057T>C	ENST00000218008.3	+	4	611	c.554T>C	c.(553-555)tTt>tCt	p.F185S	ATP1B4_ENST00000361319.3_Missense_Mutation_p.F181S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.F142S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	185					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)	p.F181S(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CTAAATGGCTTTCTCCAGGGT	0.453																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											104	86	92					X																	119505057		2203	4300	6503	119389085	SO:0001583	missense	0			AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"ATPases / P-type"	808	protein-coding gene	gene with protein product	"Na,K-ATPase beta m-subunit"		"ATPase, (Na+)/K+ transporting, beta 4 polypeptide"			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.554T>C	X.37:g.119505057T>C	ENSP00000218008:p.Phe185Ser	832	0.12	1					119389085	339	43	258	Q17RR0|Q9UN41	Missense_Mutation	SNP	HMMPfam_Na_K-ATPase,PatternScan_ATPASE_NA_K_BETA_1,PatternScan_ATPASE_NA_K_BETA_2	p.F181S	ENST00000218008.3	37	c.542	CCDS48158.1	X	.	.	.	.	.	.	.	.	.	.	T	15.76	2.927721	0.52759	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.38560	1.13;1.13;1.13	5.4	5.4	0.78164	.	0.150392	0.64402	D	0.000008	T	0.69495	0.3117	M	0.91920	3.255	0.49687	D	0.999815	D;D;D;D	0.67145	0.984;0.996;0.984;0.98	P;D;P;P	0.71870	0.903;0.975;0.903;0.844	T	0.76838	-0.2811	10	0.87932	D	0	-32.0439	12.094	0.53744	0.0:0.0:0.0:1.0	.	142;150;185;181	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	S	185;181;142	ENSP00000218008:F185S;ENSP00000355346:F181S;ENSP00000443334:F142S	ENSP00000218008:F185S	F	+	2	0	ATP1B4	119389085	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.462000	0.45049	1.789000	0.52484	0.441000	0.28932	TTT	-	HMMPfam_Na_K-ATPase		0.453	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1B4	protein_coding	OTTHUMT00000058095.1	T	NM_001142447		119389085	1	no_errors	NM_012069.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	119505057	T	C	119505057	3	2	156	1	0	0	0	0	1	0	0	0	1135	1841	64	3	568	3	ATP1B4	23	119505057	Missense_Mutation	SNP	T	TCGA-AB-2972-03A-01D-0739-09		119505057	35765503	23	1784											
STAG2	10735	genome.wustl.edu	37	X	123197716	123197716	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2972-03A-01D-0739-09	TCGA-AB-2972-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	6a7deace-79dc-4790-a415-07f0e933eb2a	4c00565d-2fd1-4fa8-ad7f-541683ece1b0	g.chrX:123197716C>T	ENST00000371160.1	+	20	2130	c.1840C>T	c.(1840-1842)Cga>Tga	p.R614*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R614*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R614*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R614*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R614*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R545*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	614					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R614*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TGCCTTATTGCGACAGATCCG	0.353																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	X											84	72	76					X																	123197716		2203	4300	6503	123025397	SO:0001587	stop_gained	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.1840C>T	X.37:g.123197716C>T	ENSP00000360202:p.Arg614*	587	0	0		7	89.23	58	123025397	313	46.03	267	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	HMMPfam_STAG,superfamily_ARM-type_fold	p.R614*	ENST00000371160.1	37	c.1840	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	39	7.665885	0.98422	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	4.95	1.97	0.26223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-16.8113	13.2787	0.60202	0.4121:0.5879:0.0:0.0	.	.	.	.	X	614;545;614;614;614;614	.	ENSP00000218089:R614X	R	+	1	2	STAG2	123025397	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.977000	0.29475	0.320000	0.23234	-0.330000	0.08379	CGA	-	superfamily_ARM-type_fold		0.353	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	C	NM_006603		123025397	1	no_errors	NM_001042749.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	123197716	C	T	123197716	4	4	156	1	0	0	0	0	0	1	0	0	15242	760	27	1	1910	1	STAG2	23	123197716	Nonsense_Mutation	SNP	C	TCGA-AB-2972-03A-01D-0739-09	3692659	123197716	32072844	24	1785											
ACVR2B	93	genome.wustl.edu	37	3	38519671	38519671	+	Missense_Mutation	SNP	C	C	T	rs199622012		TCGA-AB-2973-03A-01D-0739-09	TCGA-AB-2973-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	74dfde23-debb-4c0c-80cb-e06928350b5d	cf1f73e2-147b-42f5-8797-004eb789f776	g.chr3:38519671C>T	ENST00000352511.4	+	4	882	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	137					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ACCCTGCTCACGGTGCTGGCC	0.637																																						dbGAP											0			3						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	49	49	49		410	3.8	1	3		49	0,8600		0,0,4300	no	missense	ACVR2B	NM_001106.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	137/513	38519671	1,13005	2203	4300	6503	38494675	SO:0001583	missense	0			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.410C>T	3.37:g.38519671C>T	ENSP00000340361:p.Thr137Met	331	15.78	62					38494675	240	43.26	183	Q4VAV0	Missense_Mutation	SNP	HMMPfam_Activin_recp,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,superfamily_Snake toxin-like	p.T137M	ENST00000352511.4	37	c.410	CCDS2679.1	3	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482375	0.44147	2.27E-4	0.0	ENSG00000114739	ENST00000352511	D	0.84660	-1.88	4.77	3.83	0.44106	.	0.050259	0.85682	D	0.000000	T	0.73682	0.3618	N	0.19112	0.55	0.34307	D	0.68499	B	0.30664	0.289	B	0.33890	0.172	T	0.78265	-0.2271	10	0.54805	T	0.06	.	7.3765	0.26831	0.3346:0.5318:0.1336:0.0	.	137	Q13705	AVR2B_HUMAN	M	137	ENSP00000340361:T137M	ENSP00000340361:T137M	T	+	2	0	ACVR2B	38494675	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.682000	0.54656	2.203000	0.70933	0.462000	0.41574	ACG	-	NULL		0.637	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2B	protein_coding	OTTHUMT00000254059.3	C	NM_001106		38494675	1	no_errors	NM_001106.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	38519671	C	T	38519671	3	4	157	1	0	0	0	0	1	0	0	0	224	536	19	1	424	1	ACVR2B	3	38519671	Missense_Mutation	SNP	C	TCGA-AB-2973-03A-01D-0739-09		38519671	159502759	1	1786											
RET	5979	genome.wustl.edu	37	10	43600500	43600500	+	Silent	SNP	G	G	T	rs377193354		TCGA-AB-2973-03A-01D-0739-09	TCGA-AB-2973-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	74dfde23-debb-4c0c-80cb-e06928350b5d	cf1f73e2-147b-42f5-8797-004eb789f776	g.chr10:43600500G>T	ENST00000355710.3	+	4	958	c.726G>T	c.(724-726)gtG>gtT	p.V242V	RET_ENST00000340058.5_Silent_p.V242V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	242	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V242V(3)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGGTGGCCGTGTGCACCGTGC	0.731		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"E, O"	3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	10											36	33	34					10																	43600500		2201	4297	6498	42920506	SO:0001819	synonymous_variant	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"Cadherins / Cadherin-related"	9967	protein-coding gene	gene with protein product	"cadherin-related family member 16"	164761	"multiple endocrine neoplasia and medullary thyroid carcinoma 1", "Hirschsprung disease 1"	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.726G>T	10.37:g.43600500G>T		262	16.8253968253968	53		1	0	0	42920506	174	43.1372549019608	132	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,superfamily_Cadherin,PatternScan_PROTEIN_KINASE_ATP	p.V242	ENST00000355710.3	37	c.726	CCDS7200.1	10																																																																																			-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.731	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	protein_coding	OTTHUMT00000047694.2	G	NM_020975		42920506	1	no_errors	NM_020975.4	genbank	human	reviewed	54_36p	silent	SNP	0.006	T	T	43600500	G	T	43600500	2	4	157	1	0	0	0	0	0	0	0	1	13235	1364	48	4		4	RET	10	43600500	Silent	SNP	G	TCGA-AB-2973-03A-01D-0739-09		43600500	91934247	2	1787											
ACTA2	59	genome.wustl.edu	37	10	90695109	90695109	+	Silent	SNP	C	C	T			TCGA-AB-2973-03A-01D-0739-09	TCGA-AB-2973-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	74dfde23-debb-4c0c-80cb-e06928350b5d	cf1f73e2-147b-42f5-8797-004eb789f776	g.chr10:90695109C>T	ENST00000458208.1	-	9	1479	c.1005G>A	c.(1003-1005)ccG>ccA	p.P335P	STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000437930.4_RNA|ACTA2_ENST00000224784.6_Silent_p.P335P	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	335					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.P335P(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ATTTGCGCTCCGGAGGGGCAA	0.507											OREG0020356	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											90	89	89					10																	90695109		2203	4300	6503	90685089	SO:0001819	synonymous_variant	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.1005G>A	10.37:g.90695109C>T		486	0	0	1276	23	0	0	90685089	496	0.201207243460765	1	B2R8A4|P03996|P04108|Q6FI19	Silent	SNP	HMMPfam_Actin,HMMSmart_SM00268,PatternScan_ACTINS_ACT_LIKE,PatternScan_ACTINS_1,PatternScan_ACTINS_2,superfamily_Actin-like ATPase domain	p.P335	ENST00000458208.1	37	c.1005	CCDS7392.1	10																																																																																			-	HMMPfam_Actin,HMMSmart_SM00268,superfamily_Actin-like ATPase domain		0.507	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	protein_coding	OTTHUMT00000049264.1	C	NM_001613		90685089	-1	no_errors	NM_001613.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	90695109	C	T	90695109	2	4	157	1	0	0	0	0	0	0	0	1	192	639	23	1		1	ACTA2	10	90695109	Silent	SNP	C	TCGA-AB-2973-03A-01D-0739-09	47094609	90695109	44839638	3	1788											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	T	rs121913502		TCGA-AB-2973-03A-01D-0739-09	TCGA-AB-2973-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	74dfde23-debb-4c0c-80cb-e06928350b5d	cf1f73e2-147b-42f5-8797-004eb789f776	g.chr15:90631934C>T	ENST00000330062.3	-	4	532	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	IDH2_ENST00000539790.1_Missense_Mutation_p.R10Q|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R88Q	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	103	103					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	367	11.78	49		82	39.42	54	88432938	136	11.69	18	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	T	90631934	C	T	90631934	3	4	157	1	0	0	0	0	1	0	0	0	7495	652	23	1	971	1	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-2973-03A-01D-0739-09		90631934	11899458	4	1789											
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2974-03A-01D-0739-09	TCGA-AB-2974-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cd5c86f1-aa57-4266-b150-c64cbf496a27	d811ed5b-2b58-412c-aa34-2678349ba1f5	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55	50	52		2644,2077,2644	5.7	1	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	10	28.57	4					25310747	13	56.25	18	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25457243	G	A	25457243	3	1	158	1	0	0	0	0	1	0	0	0	4676	1116	39	1	98	1	DNMT3A	2	25457243	Missense_Mutation	SNP	G	TCGA-AB-2974-03A-01D-0739-09		25457243	217742130	1	1790											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2974-03A-01D-0739-09	TCGA-AB-2974-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cd5c86f1-aa57-4266-b150-c64cbf496a27	d811ed5b-2b58-412c-aa34-2678349ba1f5	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	158	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2974-03A-01D-0739-09		170837547	10077713	2	1791											
NOX3	50508	genome.wustl.edu	37	6	155774556	155774556	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2974-03A-01D-0739-09	TCGA-AB-2974-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cd5c86f1-aa57-4266-b150-c64cbf496a27	d811ed5b-2b58-412c-aa34-2678349ba1f5	g.chr6:155774556C>T	ENST00000159060.2	-	4	424	c.322G>A	c.(322-324)Ggg>Agg	p.G108R		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	108	Ferric oxidoreductase.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.G108R(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		ACAGCTATCCCATAGGCGACC	0.383																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											258	268	264					6																	155774556		2203	4300	6503	155816248	SO:0001583	missense	0			AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.322G>A	6.37:g.155774556C>T	ENSP00000159060:p.Gly108Arg	469	15.21	85					155816248	1019	46.48	886	Q9HBJ9	Missense_Mutation	SNP	HMMPfam_FAD_binding_8,HMMPfam_NAD_binding_6,HMMPfam_Ferric_reduct,superfamily_Riboflavin_synthase_like_b-brl,superfamily_SSF52343	p.G108R	ENST00000159060.2	37	c.322	CCDS5250.1	6	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791839	0.70452	.	.	ENSG00000074771	ENST00000159060	D	0.91068	-2.78	6.02	5.15	0.70609	Flavoprotein transmembrane component (1);	0.093226	0.47093	D	0.000256	D	0.92919	0.7747	M	0.73598	2.24	0.44201	D	0.997029	D	0.61080	0.989	D	0.63283	0.913	D	0.92891	0.6331	10	0.46703	T	0.11	-10.7199	15.147	0.72662	0.1412:0.8588:0.0:0.0	.	108	Q9HBY0	NOX3_HUMAN	R	108	ENSP00000159060:G108R	ENSP00000159060:G108R	G	-	1	0	NOX3	155816248	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.195000	0.58400	1.549000	0.49425	0.655000	0.94253	GGG	-	HMMPfam_Ferric_reduct		0.383	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX3	protein_coding	OTTHUMT00000042819.1	C			155816248	-1	no_errors	NM_015718.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	155774556	C	T	155774556	3	4	158	1	0	0	0	0	1	0	0	0	10557	594	21	2	1424	2	NOX3	6	155774556	Missense_Mutation	SNP	C	TCGA-AB-2974-03A-01D-0739-09		155774556	15340511	3	1792											
GRM8	2918	genome.wustl.edu	37	7	126173379	126173379	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2974-03A-01D-0739-09	TCGA-AB-2974-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cd5c86f1-aa57-4266-b150-c64cbf496a27	d811ed5b-2b58-412c-aa34-2678349ba1f5	g.chr7:126173379G>A	ENST00000339582.2	-	9	2865	c.2057C>T	c.(2056-2058)gCg>gTg	p.A686V	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.A686V|GRM8_ENST00000444921.2_Missense_Mutation_p.A686V			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	686					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.A686V(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAACTTGGGCGCTGTGACAGA	0.507										HNSCC(24;0.065)																												dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											94	82	86					7																	126173379		2203	4300	6503	125960615	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2057C>T	7.37:g.126173379G>A	ENSP00000344173:p.Ala686Val	744	9.59	79					125960615	947	38.62	597	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I	p.A686V	ENST00000339582.2	37	c.2057	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	16.99	3.272840	0.59649	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88975	-2.45;-2.45;-2.45	5.82	5.82	0.92795	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92057	0.7483	L	0.37630	1.12	0.80722	D	1	D;P	0.89917	1.0;0.951	D;P	0.80764	0.994;0.479	D	0.92081	0.5672	10	0.56958	D	0.05	.	19.0835	0.93192	0.0:0.0:1.0:0.0	.	686;686	O00222-2;O00222	.;GRM8_HUMAN	V	686	ENSP00000344173:A686V;ENSP00000409790:A686V;ENSP00000351142:A686V	ENSP00000344173:A686V	A	-	2	0	GRM8	125960615	1.000000	0.71417	0.868000	0.34077	0.965000	0.64279	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	GCG	-	HMMPfam_7tm_3		0.507	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	protein_coding	OTTHUMT00000059209.4	G			125960615	-1	no_errors	NM_000845.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	126173379	G	A	126173379	3	1	158	1	0	0	0	0	1	0	0	0	6803	1087	38	1	731	1	GRM8	7	126173379	Missense_Mutation	SNP	G	TCGA-AB-2974-03A-01D-0739-09		126173379	32965284	4	1793											
PKD2L1	9033	genome.wustl.edu	37	10	102054727	102054727	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2974-03A-01D-0739-09	TCGA-AB-2974-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cd5c86f1-aa57-4266-b150-c64cbf496a27	d811ed5b-2b58-412c-aa34-2678349ba1f5	g.chr10:102054727C>T	ENST00000318222.3	-	8	1892	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	PKD2L1_ENST00000353274.3_Missense_Mutation_p.E504K|PKD2L1_ENST00000338519.3_Missense_Mutation_p.E429K	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	504					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.E504K(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CTAAAGTTTTCCACTTGGGTC	0.557																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											121	119	120					10																	102054727		2203	4300	6503	102044717	SO:0001583	missense	0			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"Voltage-gated ion channels / Transient receptor potential cation channels"	9011	protein-coding gene	gene with protein product	"transient receptor potential cation channel, subfamily P, member 3"	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1510G>A	10.37:g.102054727C>T	ENSP00000325296:p.Glu504Lys	770	11.64	102					102044717	369	42.84	278	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels	p.E504K	ENST00000318222.3	37	c.1510	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.465966	0.96257	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.69926	-0.44;-0.44;-0.44	5.93	5.93	0.95920	Polycystin cation channel, PKD1/PKD2 (1);	0.092997	0.85682	D	0.000000	T	0.63510	0.2517	L	0.42529	1.33	0.58432	D	0.999997	B;B	0.25719	0.092;0.132	B;B	0.33454	0.164;0.101	T	0.56625	-0.7948	10	0.14656	T	0.56	-11.9441	19.3319	0.94293	0.0:1.0:0.0:0.0	.	457;504	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	K	429;504;504;502	ENSP00000345068:E429K;ENSP00000266049:E504K;ENSP00000325296:E504K	ENSP00000325296:E504K	E	-	1	0	PKD2L1	102044717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.984000	0.56923	2.815000	0.96918	0.561000	0.74099	GAA	-	HMMPfam_PKD_channel,superfamily_Voltage-gated potassium channels		0.557	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102044717	-1	no_errors	NM_016112.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	102054727	C	T	102054727	3	4	158	1	0	0	0	0	1	0	0	0	11967	864	30	2	943	2	PKD2L1	10	102054727	Missense_Mutation	SNP	C	TCGA-AB-2974-03A-01D-0739-09		102054727	33480020	5	1794											
FLT3	2322	genome.wustl.edu	37	13	28592642	28592642	+	Missense_Mutation	SNP	C	C	A	rs121913486|rs121913488		TCGA-AB-2974-03A-01D-0739-09	TCGA-AB-2974-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cd5c86f1-aa57-4266-b150-c64cbf496a27	d811ed5b-2b58-412c-aa34-2678349ba1f5	g.chr13:28592642C>A	ENST00000241453.7	-	20	2584	c.2503G>T	c.(2503-2505)Gat>Tat	p.D835Y	FLT3_ENST00000380982.4_Missense_Mutation_p.D835Y|FLT3_ENST00000537084.1_Intron	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	835	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> E (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:14504097}.|D -> H (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.|D -> N (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> V (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608}.|D -> Y (in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated). {ECO:0000269|PubMed:11290608, ECO:0000269|PubMed:11442493, ECO:0000269|PubMed:14504097}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D835Y(190)|p.D835H(30)|p.?(23)|p.D835N(6)|p.D835del(1)|p.R834_D835del(1)|p.D835F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCATGATATCTCGAGCCAAT	0.453			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	252	Substitution - Missense(227)|Unknown(23)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(252)	13											187	141	156					13																	28592642		2203	4300	6503	27490642	SO:0001583	missense	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2503G>T	13.37:g.28592642C>A	ENSP00000241453:p.Asp835Tyr	910	12.92	135					27490642	667	46.14	573	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.D835Y	ENST00000241453.7	37	c.2503	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949190	0.92660	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.83755	-1.76;-1.76	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.074843	0.56097	D	0.000030	D	0.87981	0.6315	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88564	0.3125	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	835	P36888	FLT3_HUMAN	Y	835	ENSP00000241453:D835Y;ENSP00000370369:D835Y	ENSP00000241453:D835Y	D	-	1	0	FLT3	27490642	1.000000	0.71417	0.960000	0.40013	0.940000	0.58332	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GAT	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	C			27490642	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	28592642	C	A	28592642	3	1	158	1	0	0	0	0	1	0	0	0	5942	913	32	4	498	4	FLT3	13	28592642	Missense_Mutation	SNP	C	TCGA-AB-2974-03A-01D-0739-09		28592642	86577236	6	1795											
PSG3	5671	genome.wustl.edu	37	19	43237057	43237057	+	Silent	SNP	G	G	A			TCGA-AB-2974-03A-01D-0739-09	TCGA-AB-2974-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cd5c86f1-aa57-4266-b150-c64cbf496a27	d811ed5b-2b58-412c-aa34-2678349ba1f5	g.chr19:43237057G>A	ENST00000327495.5	-	3	772	c.588C>T	c.(586-588)tcC>tcT	p.S196S	PSG3_ENST00000595140.1_Silent_p.S196S|PSG3_ENST00000490592.1_5'Flank	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	196	Ig-like C2-type 1.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.S196S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTTTGTTTTTGGACAACTGCA	0.507																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	19											242	244	244					19																	43237057		2203	4300	6503	47928897	SO:0001819	synonymous_variant	0				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.588C>T	19.37:g.43237057G>A		723	12.35	102					47928897	957	47.13	854	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,superfamily_SSF48726	p.S196	ENST00000327495.5	37	c.588	CCDS12611.1	19																																																																																			-	HMMSmart_IG,HMMPfam_ig,superfamily_SSF48726		0.507	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	PSG3	protein_coding	OTTHUMT00000321423.2	G	NM_021016		47928897	-1	no_errors	NM_021016.3	genbank	human	validated	54_36p	silent	SNP	0.001	A	A	43237057	G	A	43237057	2	1	158	1	0	0	0	0	0	0	0	1	12656	1335	47	2		2	PSG3	19	43237057	Silent	SNP	G	TCGA-AB-2974-03A-01D-0739-09		43237057	15891926	7	1796											
MYO18B	84700	genome.wustl.edu	37	22	26219599	26219599	+	Silent	SNP	G	G	A			TCGA-AB-2974-03A-01D-0739-09	TCGA-AB-2974-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	cd5c86f1-aa57-4266-b150-c64cbf496a27	d811ed5b-2b58-412c-aa34-2678349ba1f5	g.chr22:26219599G>A	ENST00000407587.2	+	13	2818	c.2649G>A	c.(2647-2649)acG>acA	p.T883T	MYO18B_ENST00000335473.7_Silent_p.T883T|MYO18B_ENST00000536101.1_Silent_p.T883T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	883	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T883T(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGCAAATGACGTTTGGGCCAA	0.607																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	22											179	178	179					22																	26219599		2087	4207	6294	24549599	SO:0001819	synonymous_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"Myosins / Myosin superfamily : Class XVIII"	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2649G>A	22.37:g.26219599G>A		768	9.4	80					24549599	318	49.13	309	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	HMMPfam_IQ,HMMPfam_Myosin_head,HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T883	ENST00000407587.2	37	c.2649		22																																																																																			-	HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	protein_coding	OTTHUMT00000400691.1	G	NM_032608		24549599	1	no_errors	NM_032608.5	genbank	human	reviewed	54_36p	silent	SNP	0.000	A	A	26219599	G	A	26219599	2	1	158	1	0	0	0	0	0	0	0	1	10066	1132	40	1		1	MYO18B	22	26219599	Silent	SNP	G	TCGA-AB-2974-03A-01D-0739-09		26219599	25084967	8	1797											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2975-03A-01D-0739-09	TCGA-AB-2975-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46b127f4-a3de-486c-8b90-d300ee13b182	07925c7f-550a-4728-908a-1ed34112da56	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	28	36.36	16		25	52.83	28	25310746	10	65.62	21	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	159	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2975-03A-01D-0739-09		25457242	217742131	1	1798											
RAD21	5885	genome.wustl.edu	37	8	117868935	117868935	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AB-2975-03A-01D-0739-09	TCGA-AB-2975-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	46b127f4-a3de-486c-8b90-d300ee13b182	07925c7f-550a-4728-908a-1ed34112da56	g.chr8:117868935A>T	ENST00000297338.2	-	7	1051	c.764T>A	c.(763-765)tTg>tAg	p.L255*	RAD21_ENST00000523547.1_5'Flank	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	255					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTGCTCTGGCAACATCACCCC	0.428																																						dbGAP											0			8											95	97	96					8																	117868935		2203	4300	6503	117938116	SO:0001587	stop_gained	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.764T>A	8.37:g.117868935A>T	ENSP00000297338:p.Leu255*	24	14.29	4		27	25	9	117938116	12	45.45	10	A8K0E0|Q15001|Q99568	Nonsense_Mutation	SNP	HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N	p.L255*	ENST00000297338.2	37	c.764	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	A	38	7.110768	0.98070	.	.	ENSG00000164754	ENST00000297338	.	.	.	5.47	5.47	0.80525	.	0.281842	0.35739	N	0.003006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-27.2835	15.5543	0.76180	1.0:0.0:0.0:0.0	.	.	.	.	X	255	.	ENSP00000297338:L255X	L	-	2	0	RAD21	117938116	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	6.860000	0.75473	2.076000	0.62316	0.383000	0.25322	TTG	-	NULL		0.428	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	protein_coding	OTTHUMT00000381184.1	A	NM_006265		117938116	-1	no_errors	NM_006265.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	117868935	A	T	117868935	4	4	159	1	0	0	0	0	0	1	0	0	12981	131	5	5	1163	5	RAD21	8	117868935	Nonsense_Mutation	SNP	A	TCGA-AB-2975-03A-01D-0739-09		117868935	28495087	2	1799											
GATAD2B	57459	genome.wustl.edu	37	1	153791329	153791329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:153791329G>A	ENST00000368655.4	-	4	778	c.535C>T	c.(535-537)Cga>Tga	p.R179*		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	179	CR1; MBD2- and MBD3-binding.				ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R179*(3)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGACCAGTCGGGCTTCTTCC	0.478																																						dbGAP											3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	1											134	132	132					1																	153791329		2203	4300	6503	152057953	SO:0001587	stop_gained	0			AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"GATA zinc finger domain containing"	30778	protein-coding gene	gene with protein product	"transcription repressor p66 beta component of the MeCP1 complex"	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.535C>T	1.37:g.153791329G>A	ENSP00000357644:p.Arg179*	1286	5.02	68		41	32.79	20	152057953	651	45.89	552	D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Nonsense_Mutation	SNP	HMMPfam_GATA,PatternScan_GATA_ZN_FINGER_1,superfamily_SSF57716	p.R179*	ENST00000368655.4	37	c.535	CCDS1054.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.195892	0.97367	.	.	ENSG00000143614	ENST00000368655	.	.	.	5.83	2.54	0.30619	.	0.061993	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-6.9346	15.4773	0.75493	0.0:0.0:0.6333:0.3667	.	.	.	.	X	179	.	ENSP00000357644:R179X	R	-	1	2	GATAD2B	152057953	0.964000	0.33143	1.000000	0.80357	0.998000	0.95712	0.818000	0.27295	0.770000	0.33336	0.561000	0.74099	CGA	-	NULL		0.478	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATAD2B	protein_coding	OTTHUMT00000090305.1	G	NM_020699		152057953	-1	no_errors	NM_020699.2	genbank	human	validated	54_36p	nonsense	SNP	1.000	A	A	153791329	G	A	153791329	4	1	160	1	0	0	0	0	0	1	0	0	6261	1124	39	1	1278	1	GATAD2B	1	153791329	Nonsense_Mutation	SNP	G	TCGA-AB-2976-03A-01D-0739-09		153791329	95459292	1	1800											
MYOC	4653	genome.wustl.edu	37	1	171621554	171621554	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:171621554C>T	ENST00000037502.6	-	1	269	c.198G>A	c.(196-198)caG>caA	p.Q66Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	66					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)	p.Q66Q(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGACATGGCCTGGCTCTGCT	0.577																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1											126	97	107					1																	171621554		2203	4300	6503	169888177	SO:0001819	synonymous_variant	0			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.198G>A	1.37:g.171621554C>T		1293	5.13	70					169888177	603	46.54	525	B2RD84|O00620|Q7Z6Q9	Silent	SNP	HMMPfam_OLF,HMMSmart_SM00284	p.Q66	ENST00000037502.6	37	c.198	CCDS1297.1	1																																																																																			-	NULL		0.577	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		169888177	-1	no_errors	NM_000261.1	genbank	human	reviewed	54_36p	silent	SNP	0.450	T	T	171621554	C	T	171621554	2	4	160	1	0	0	0	0	0	0	0	1	10086	680	24	2		2	MYOC	1	171621554	Silent	SNP	C	TCGA-AB-2976-03A-01D-0739-09	17830225	171621554	77629067	2	1801											
TNR	7143	genome.wustl.edu	37	1	175348815	175348815	+	Silent	SNP	G	G	A	rs139768853	byFrequency	TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:175348815G>A	ENST00000367674.2	-	9	2544	c.1836C>T	c.(1834-1836)ctC>ctT	p.L612L	TNR_ENST00000263525.2_Silent_p.L612L			Q92752	TENR_HUMAN	tenascin R	612	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.L612L(3)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TATCCCACTCGAGGTCAAGGC	0.507													G|||	8	0.00159744	8e-04	0.0086	5008	,	,		22443	0		0.001	False		,,,				2504	0					dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1						G		12,4394	20.2+/-43.8	1,10,2192	106	80	89		1836	-10.9	0.1	1	dbSNP_134	89	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	TNR	NM_003285.2		1,14,6488	AA,AG,GG		0.0465,0.2724,0.123		612/1359	175348815	16,12990	2203	4300	6503	173615438	SO:0001819	synonymous_variant	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"Fibrinogen C domain containing", "Fibronectin type III domain containing"	11953	protein-coding gene	gene with protein product	"restrictin", "janusin"	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1836C>T	1.37:g.175348815G>A		1564	5.78	96					173615438	913	46.42	791	C9J563|Q15568|Q5R3G0	Silent	SNP	HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like,HMMPfam_fn3,HMMSmart_SM00060,HMMSmart_SM00181,superfamily_Fibronectin type III,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_EGF/Laminin	p.L612	ENST00000367674.2	37	c.1836	CCDS1318.1	1																																																																																			-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.507	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	protein_coding	OTTHUMT00000084414.4	G	NM_003285		173615438	-1	no_errors	NM_003285.2	genbank	human	validated	54_36p	silent	SNP	0.635	A	A	175348815	G	A	175348815	2	1	160	1	0	0	0	0	0	0	0	1	16335	1045	37	1		1	TNR	1	175348815	Silent	SNP	G	TCGA-AB-2976-03A-01D-0739-09	3727261	175348815	73901806	3	1802											
FAM5C	339479	genome.wustl.edu	37	1	190250762	190250762	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr1:190250762T>A	ENST00000367462.3	-	3	586	c.355A>T	c.(355-357)Acc>Tcc	p.T119S	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	119	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.T119S(3)									TGCTGAAGGGTAGGTCGACGT	0.443																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1											94	90	92					1																	190250762		2203	4300	6503	188517385	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.355A>T	1.37:g.190250762T>A	ENSP00000356432:p.Thr119Ser	772	5.95	49					188517385	616	44.62	498	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.T119S	ENST00000367462.3	37	c.355	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135622	0.56828	.	.	ENSG00000162670	ENST00000367462	D	0.83755	-1.76	5.67	5.67	0.87782	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.60457	0.2270	N	0.04297	-0.235	0.80722	D	1	B	0.09022	0.002	B	0.12837	0.008	T	0.58211	-0.7676	10	0.05959	T	0.93	.	9.1999	0.37251	0.1618:0.0:0.0:0.8382	.	119	Q76B58	FAM5C_HUMAN	S	119	ENSP00000356432:T119S	ENSP00000356432:T119S	T	-	1	0	FAM5C	188517385	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.126000	0.71635	2.162000	0.67917	0.477000	0.44152	ACC	-	HMMPfam_MACPF,HMMSmart_SM00457		0.443	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	T	NM_199051		188517385	-1	no_errors	NM_199051.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	190250762	T	A	190250762	3	1	160	1	0	0	0	0	1	0	0	0	5594	1638	57	5	1969	5	FAM5C	1	190250762	Missense_Mutation	SNP	T	TCGA-AB-2976-03A-01D-0739-09	14901947	190250762	58999859	4	1803											
BOC	91653	genome.wustl.edu	37	3	112999443	112999443	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr3:112999443C>T	ENST00000495514.1	+	14	2945	c.2241C>T	c.(2239-2241)ggC>ggT	p.G747G	BOC_ENST00000355385.3_Silent_p.G747G|BOC_ENST00000273395.4_Silent_p.G748G			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	747	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.G747G(3)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CAATCCATGGCTTTTATATCT	0.413																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	3											168	160	163					3																	112999443		2203	4300	6503	114482133	SO:0001819	synonymous_variant	0			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	17173	protein-coding gene	gene with protein product	"brother of CDO", "brother of CDON", "cell adhesion associated, oncogene regulated 2"	608708	"Boc homolog (mouse)"			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2241C>T	3.37:g.112999443C>T		683	9.4	71		0	100	3	114482133	546	39.33	354	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	PatternScan_N6_MTASE,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,PatternScan_CYTOCHROME_P450,superfamily_Immunoglobulin	p.G747	ENST00000495514.1	37	c.2241	CCDS2971.1	3																																																																																			-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III		0.413	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	protein_coding	OTTHUMT00000354485.3	C	NM_033254		114482133	1	no_errors	NM_033254.2	genbank	human	validated	54_36p	silent	SNP	0.996	T	T	112999443	C	T	112999443	2	4	160	1	0	0	0	0	0	0	0	1	1481	784	28	2		2	BOC	3	112999443	Silent	SNP	C	TCGA-AB-2976-03A-01D-0739-09		112999443	85022987	5	1804											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CATG			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	-	-	-	CATG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr5:170837547_170837548insCATG	ENST00000296930.5	+	11	1164_1165	c.863_864insCATG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCATG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CATG	CATG	170837548	-	CATG	170837547	7	5	160	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2976-03A-01D-0739-09		170837547	10077713	6	1805											
DAGLB	221955	genome.wustl.edu	37	7	6461400	6461400	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr7:6461400C>T	ENST00000297056.6	-	9	1345	c.1176G>A	c.(1174-1176)gtG>gtA	p.V392V	DAGLB_ENST00000425398.2_Silent_p.V263V|DAGLB_ENST00000436575.1_Silent_p.V351V|DAGLB_ENST00000421761.2_Silent_p.V136V|DAGLB_ENST00000428902.2_Silent_p.V265V	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	392					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.V392V(3)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CCACGTCCAGCACCTCACTCT	0.587																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	7											237	142	174					7																	6461400		2203	4300	6503	6427925	SO:0001819	synonymous_variant	0			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1176G>A	7.37:g.6461400C>T		519	3.71057513914657	20		19	42.42	14	6427925	312	45.9272097053726	265	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Silent	SNP	HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases	p.V392	ENST00000297056.6	37	c.1176	CCDS5350.1	7																																																																																			-	HMMPfam_Lipase_3,superfamily_alpha/beta-Hydrolases		0.587	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	protein_coding	OTTHUMT00000246840.2	C	NM_139179		6427925	-1	no_errors	NM_139179.1	genbank	human	validated	54_36p	silent	SNP	0.092	T	T	6461400	C	T	6461400	2	4	160	1	0	0	0	0	0	0	0	1	4227	697	25	2		2	DAGLB	7	6461400	Silent	SNP	C	TCGA-AB-2976-03A-01D-0739-09		6461400	152677263	7	1806											
SRCRB4D	136853	genome.wustl.edu	37	7	76022791	76022791	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr7:76022791C>T	ENST00000275560.3	-	9	1611	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	SRCRB4D_ENST00000492979.2_5'UTR	NM_080744.1	NP_542782.1												p.D422N(3)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGGAAGCAGTCGCTCAGGCGA	0.721																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	7											7	7	7					7																	76022791		2140	4212	6352	75860727	SO:0001583	missense	0																														ENST00000275560.3:c.1264G>A	7.37:g.76022791C>T	ENSP00000275560:p.Asp422Asn	326	5.78	20					75860727	132	50.37	135		Missense_Mutation	SNP	HMMPfam_SRCR,PatternScan_SRCR_1,HMMSmart_SM00202,superfamily_SRCR-like	p.D422N	ENST00000275560.3	37	c.1264	CCDS5585.1	7	.	.	.	.	.	.	.	.	.	.	C	9.765	1.171166	0.21621	.	.	ENSG00000146700	ENST00000275560	T	0.46063	0.88	5.18	4.31	0.51392	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.268520	0.34986	N	0.003531	T	0.34221	0.0890	L	0.47078	1.49	0.41063	D	0.985398	P	0.36282	0.546	B	0.31245	0.126	T	0.16158	-1.0412	10	0.41790	T	0.15	.	12.7602	0.57359	0.0:0.9203:0.0:0.0797	.	422	Q8WTU2	SRB4D_HUMAN	N	422	ENSP00000275560:D422N	ENSP00000275560:D422N	D	-	1	0	SRCRB4D	75860727	0.031000	0.19500	1.000000	0.80357	0.004000	0.04260	1.960000	0.40422	1.202000	0.43218	-0.136000	0.14681	GAC	-	HMMPfam_SRCR,HMMSmart_SM00202,superfamily_SRCR-like		0.721	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	protein_coding	OTTHUMT00000253001.3	C			75860727	-1	no_errors	NM_080744.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	76022791	C	T	76022791	3	4	160	1	0	0	0	0	1	0	0	0	15136	884	31	1	475	1	SRCRB4D	7	76022791	Missense_Mutation	SNP	C	TCGA-AB-2976-03A-01D-0739-09	69561391	76022791	83115872	8	1807											
KCNQ3	3786	genome.wustl.edu	37	8	133182665	133182665	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr8:133182665C>T	ENST00000388996.4	-	8	1571	c.1151G>A	c.(1150-1152)aGg>aAg	p.R384K	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R264K|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R384K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	384					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R384K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGCATAATACCTCCAGGCAGC	0.502																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	8											72	70	70					8																	133182665		2203	4300	6503	133251847	SO:0001583	missense	0			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1151G>A	8.37:g.133182665C>T	ENSP00000373648:p.Arg384Lys	634	5.23	35					133251847	435	48.7	413	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_KCNQ_channel,superfamily_SSF81324	p.R384K	ENST00000388996.4	37	c.1151	CCDS34943.1	8	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529362	0.85706	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99113	-5.44;-5.37;-5.43	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.99221	0.9729	M	0.73598	2.24	0.58432	D	0.999998	D;D	0.64830	0.994;0.994	D;D	0.70716	0.97;0.97	D	0.99837	1.1058	10	0.72032	D	0.01	-27.1266	19.3475	0.94370	0.0:1.0:0.0:0.0	.	384;384	E7ET42;O43525	.;KCNQ3_HUMAN	K	384;264;384;373;263	ENSP00000373648:R384K;ENSP00000429799:R264K;ENSP00000428790:R384K	ENSP00000373648:R384K	R	-	2	0	KCNQ3	133251847	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.412000	0.80091	2.816000	0.96949	0.563000	0.77884	AGG	-	NULL		0.502	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNQ3	protein_coding	OTTHUMT00000268621.2	C	NM_004519		133251847	-1	no_errors	NM_004519.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	133182665	C	T	133182665	3	4	160	1	0	0	0	0	1	0	0	0	8084	681	24	2	1499	2	KCNQ3	8	133182665	Missense_Mutation	SNP	C	TCGA-AB-2976-03A-01D-0739-09		133182665	13181357	9	1808											
TEK	7010	genome.wustl.edu	37	9	27213572	27213572	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr9:27213572G>A	ENST00000380036.4	+	18	3410	c.2968G>A	c.(2968-2970)Gag>Aag	p.E990K	TEK_ENST00000406359.4_Missense_Mutation_p.E947K|TEK_ENST00000519097.1_Missense_Mutation_p.E842K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	990	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E990K(3)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	CCGAGGTCAAGAGGTGTATGT	0.438																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	9											126	123	124					9																	27213572		2203	4300	6503	27203572	SO:0001583	missense	0			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	11724	protein-coding gene	gene with protein product		600221	"venous malformations, multiple cutaneous and mucosal"	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.2968G>A	9.37:g.27213572G>A	ENSP00000369375:p.Glu990Lys	1650	6.2	109					27203572	910	48.99	877	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,HMMPfam_fn3,HMMSmart_FN3,HMMSmart_EGF,PatternScan_PROTEIN_KINASE_TYR,superfamily_FN_III-like,superfamily_Kinase_like,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Ig_Tie2_1,superfamily_SSF48726	p.E990K	ENST00000380036.4	37	c.2968	CCDS6519.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.585539	0.96578	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359	D;D;D	0.83163	-1.69;-1.69;-1.69	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000067	D	0.88804	0.6536	L	0.45352	1.415	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.994;0.993;0.994	D	0.89322	0.3641	10	0.87932	D	0	.	19.7221	0.96147	0.0:0.0:1.0:0.0	.	842;1023;990	E7EWI2;Q59HG2;Q02763	.;.;TIE2_HUMAN	K	842;990;947	ENSP00000430686:E842K;ENSP00000369375:E990K;ENSP00000383977:E947K	ENSP00000369375:E990K	E	+	1	0	TEK	27203572	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.679000	0.91253	0.655000	0.94253	GAG	-	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,superfamily_Kinase_like		0.438	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEK	protein_coding	OTTHUMT00000051965.3	G			27203572	1	no_errors	NM_000459.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	27213572	G	A	27213572	3	1	160	1	0	0	0	0	1	0	0	0	15748	943	33	2	3038	2	TEK	9	27213572	Missense_Mutation	SNP	G	TCGA-AB-2976-03A-01D-0739-09		27213572	113999859	10	1809											
WT1	7490	genome.wustl.edu	37	11	32417909	32417910	+	Frame_Shift_Ins	INS	-	-	GACCG	rs377446096|rs142937387		TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	-	-	-	GACCG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr11:32417909_32417910insGACCG	ENST00000379079.2	-	7	779_780	c.506_507insCGGTC	c.(505-507)tcgfs	p.-169fs	WT1_ENST00000448076.3_Frame_Shift_Ins_p.-381fs|WT1_ENST00000332351.3_Frame_Shift_Ins_p.-381fs|WT1_ENST00000530998.1_Frame_Shift_Ins_p.-152fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A314fs*69(11)|p.S313*(9)|p.S313fs*70(5)|p.A314fs*3(3)|p.A314fs*7(2)|p.V311fs*3(2)|p.A314fs*6(2)|p.S313fs*71(2)|p.L310fs*63(1)|p.P308fs*67(1)|p.S313del(1)|p.A314fs*68(1)|p.S313fs*4(1)|p.T309fs*4(1)|p.S313fs*6(1)|p.?fs(1)|p.A314fs*4(1)|p.A314fs*15(1)|p.S313fs*12(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TCTCAGATGCCGACCGTACAAG	0.52			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	47	Insertion - Frameshift(31)|Substitution - Nonsense(9)|Deletion - Frameshift(3)|Complex - frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(44)|kidney(3)	11	GRCh37	CM971595	WT1	M	rs142937387																																			32374486	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.502_506dupCGGTC	11.37:g.32417910_32417914dupGACCG	ENSP00000368370:p.Ser169fs	430	2.27272727272727	10					32374485	267	40	178	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A382fs	ENST00000379079.2	37	c.1143_1142	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.52	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374486	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.771:0.996	GACCG	GACCG	32417910	-	GACCG	32417909	7	5	160	1	0	1	1	0	0	0	0	0	17405	639	23	0	426	0	WT1	11	32417909	Frame_Shift_Ins	INS	-	TCGA-AB-2976-03A-01D-0739-09		32417909	102588607	11	1810											
OR4C15	81309	genome.wustl.edu	37	11	55322668	55322668	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr11:55322668C>T	ENST00000314644.2	+	1	886	c.886C>T	c.(886-888)Cac>Tac	p.H296Y		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H296Y(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTGTGGATCTCACATTGCTGT	0.428										HNSCC(20;0.049)																												dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											236	225	229					11																	55322668		2201	4296	6497	55079244	SO:0001583	missense	0			BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"GPCR / Class A : Olfactory receptors"	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.886C>T	11.37:g.55322668C>T	ENSP00000324958:p.His296Tyr	1914	5.34	108					55079244	1564	47.25	1401	Q6IFE2	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,PatternScan_LECTIN_LEGUME_ALPHA,superfamily_Family A G protein-coupled receptor-like	p.H296Y	ENST00000314644.2	37	c.886	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	C	19.28	3.797462	0.70567	.	.	ENSG00000181939	ENST00000314644	T	0.00314	8.14	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01092	0.0036	H	0.94582	3.555	0.39619	D	0.969992	D	0.89917	1.0	D	0.97110	1.0	T	0.52275	-0.8597	9	0.87932	D	0	.	15.8636	0.79043	0.0:1.0:0.0:0.0	.	242	Q8NGM1	OR4CF_HUMAN	Y	296	ENSP00000324958:H296Y	ENSP00000324958:H296Y	H	+	1	0	OR4C15	55079244	1.000000	0.71417	0.897000	0.35233	0.633000	0.38033	4.983000	0.63832	2.608000	0.88229	0.385000	0.25706	CAC	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.428	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	protein_coding	OTTHUMT00000391164.1	C	NM_001001920		55079244	1	no_errors	NM_001001920.1	genbank	human	provisional	54_36p	missense	SNP	0.975	T	T	55322668	C	T	55322668	3	4	160	1	0	0	0	0	1	0	0	0	11048	826	29	2	888	2	OR4C15	11	55322668	Missense_Mutation	SNP	C	TCGA-AB-2976-03A-01D-0739-09	22904759	55322668	79683848	12	1811											
PRR13	54458	genome.wustl.edu	37	12	53839828	53839828	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr12:53839828C>T	ENST00000429243.2	+	4	640	c.432C>T	c.(430-432)agC>agT	p.S144S	PRR13_ENST00000551003.1_Silent_p.S112S|PRR13_ENST00000549135.1_Silent_p.S144S|PRR13_ENST00000549068.1_3'UTR|RP11-793H13.8_ENST00000547717.1_RNA|PRR13_ENST00000546581.1_Silent_p.S48S|PRR13_ENST00000547368.1_Silent_p.S158S|PRR13_ENST00000379786.4_Silent_p.S94S|PCBP2_ENST00000541275.1_Intron|PRR13_ENST00000549924.1_Silent_p.S144S|PRR13_ENST00000549581.1_Silent_p.S94S	NM_001005354.2|NM_018457.3	NP_001005354.1|NP_060927.1	Q9NZ81	PRR13_HUMAN	proline rich 13	144	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S94S(3)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1)	6						CCTCTTCCAGCAGTGATTCTG	0.517																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	12											294	279	284					12																	53839828		2203	4300	6503	52126095	SO:0001819	synonymous_variant	0			AF217517	CCDS31811.1, CCDS44899.1	12q13.13	2014-05-28			ENSG00000205352	ENSG00000205352			24528	protein-coding gene	gene with protein product		610459				11230166	Standard	NM_018457		Approved	FLJ23818, DKFZP564J157	uc001scz.4	Q9NZ81	OTTHUMG00000170049	ENST00000429243.2:c.432C>T	12.37:g.53839828C>T		422	8.06	37		86	49.41	84	52126095	163	53.14	186	Q0V8U0|Q6FIG7|Q6MZP8|Q6NXQ6|Q6PKF9	Silent	SNP	NULL	p.S144	ENST00000429243.2	37	c.432	CCDS44899.1	12																																																																																			-	NULL		0.517	PRR13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRR13	protein_coding	OTTHUMT00000407055.1	C	NM_018457		52126095	1	no_errors	NM_018457.2	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	53839828	C	T	53839828	2	4	160	1	0	0	0	0	0	0	0	1	12585	709	25	2		2	PRR13	12	53839828	Silent	SNP	C	TCGA-AB-2976-03A-01D-0739-09		53839828	80012067	13	1812											
ANKRD13A	88455	genome.wustl.edu	37	12	110471685	110471685	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr12:110471685G>A	ENST00000261739.4	+	13	1598	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	C12orf76_ENST00000546651.2_Intron	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	478						endosome (GO:0005768)|plasma membrane (GO:0005886)		p.V478M(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGGCAGAAATGTGCATTTGCA	0.413																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	12											165	148	154					12																	110471685		2203	4300	6503	108956068	SO:0001583	missense	0			AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"Ankyrin repeat domain containing"	21268	protein-coding gene	gene with protein product		615123	"ankyrin repeat domain 13"	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.1432G>A	12.37:g.110471685G>A	ENSP00000261739:p.Val478Met	1762	6.33	119		39	49.35	38	108956068	724	45.03	594	O60736	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_UIM,HMMSmart_SM00726	p.V478M	ENST00000261739.4	37	c.1432	CCDS9140.1	12	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812762	0.32053	.	.	ENSG00000076513	ENST00000261738;ENST00000261739;ENST00000547419;ENST00000553251;ENST00000549826	T	0.55760	0.5	5.63	-0.93	0.10441	.	1.086640	0.06775	N	0.784265	T	0.25494	0.0620	N	0.02315	-0.6	0.22896	N	0.998595	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.09377	0.002;0.004;0.002	T	0.18745	-1.0327	10	0.44086	T	0.13	-12.0225	6.7219	0.23334	0.5569:0.1304:0.3127:0.0	.	477;224;478	B4DYP5;E9PGV0;Q8IZ07	.;.;AN13A_HUMAN	M	224;478;116;116;116	ENSP00000261739:V478M	ENSP00000261738:V224M	V	+	1	0	ANKRD13A	108956068	0.000000	0.05858	0.505000	0.27651	0.986000	0.74619	-0.426000	0.07008	-0.007000	0.14345	0.655000	0.94253	GTG	-	NULL		0.413	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13A	protein_coding	OTTHUMT00000403430.1	G	NM_033121		108956068	1	no_errors	NM_033121.1	genbank	human	validated	54_36p	missense	SNP	0.364	A	A	110471685	G	A	110471685	3	1	160	1	0	0	0	0	1	0	0	0	641	1377	48	2	1482	2	ANKRD13A	12	110471685	Missense_Mutation	SNP	G	TCGA-AB-2976-03A-01D-0739-09	56631857	110471685	23380210	14	1813											
FLT3	2322	genome.wustl.edu	37	13	28608256	28608257	+	In_Frame_Ins	INS	-	-	TCATATTCATATTCATATTCATAT			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	-	-	-	TCATATTCATATTCATATTCATAT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr13:28608256_28608257insTCATATTCATATTCATATTCATAT	ENST00000241453.7	-	14	1880_1881	c.1799_1800insATATGAATATGAATATGAATATGA	c.(1798-1800)gat>gaATATGAATATGAATATGAATATGAt	p.599_600insEYEYEYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insEYEYEYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insEYEYEYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins15(2)|p.Y599_D600ins12(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.D600_L601insVDFREYEY(1)|p.D600_L601ins28(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCCATTTGAGATCATATTCATA	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	15	Insertion - In frame(14)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(15)	13																																								27506257	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1799_1800insATATGAATATGAATATGAATATGA	13.37:g.28608256_28608257insTCATATTCATATTCATATTCATAT	ENSP00000241453:p.Tyr599_Asp600insGluTyrGluTyrGluTyrGluTyr	449	0.883002207505519	4					27506256	288	26.9035532994924	106	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insEYEYEYEY	ENST00000241453.7	37	c.1800_1799	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506257	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.998:1.000	TCATATTCATATTCATATTCATAT	TCATATTCATATTCATATTCATAT	28608257	-	TCATATTCATATTCATATTCATAT	28608256	7	5	160	1	0	1	1	0	0	0	0	0	5942	330	12	0	1225	0	FLT3	13	28608256	In_Frame_Ins	INS	-	TCGA-AB-2976-03A-01D-0739-09		28608256	86561622	15	1814											
DDHD1	80821	genome.wustl.edu	37	14	53529750	53529750	+	Silent	SNP	C	C	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr14:53529750C>T	ENST00000323669.5	-	7	1676	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	DDHD1_ENST00000395606.1_Silent_p.L566L|DDHD1_ENST00000357758.3_Silent_p.L559L	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	559					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L559L(3)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CCTTTTGCAGCAACTGTTCAT	0.393																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	14											158	147	151					14																	53529750		2203	4300	6503	52599500	SO:0001819	synonymous_variant	0			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"phosphatidic acid-preferring phospholipase A1"	614603	"spastic paraplegia 28 (autosomal recessive)"	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1677G>A	14.37:g.53529750C>T		1050	6.91	78		25	30.56	11	52599500	924	46.96	818	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Silent	SNP	HMMPfam_DDHD	p.L559	ENST00000323669.5	37	c.1677	CCDS53895.1	14																																																																																			-	NULL		0.393	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	DDHD1	protein_coding	OTTHUMT00000276901.1	C			52599500	-1	no_errors	NM_030637.1	genbank	human	provisional	54_36p	silent	SNP	1.000	T	T	53529750	C	T	53529750	2	4	160	1	0	0	0	0	0	0	0	1	4326	709	25	2		2	DDHD1	14	53529750	Silent	SNP	C	TCGA-AB-2976-03A-01D-0739-09		53529750	53819790	16	1815											
LBXCOR1	390598	genome.wustl.edu	37	15	68118536	68118536	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr15:68118536G>T	ENST00000380035.2	+	2	428	c.370G>T	c.(370-372)Ggc>Tgc	p.G124C	SKOR1_ENST00000341418.5_Missense_Mutation_p.G310C|SKOR1_ENST00000554240.1_Missense_Mutation_p.G85C|SKOR1_ENST00000389002.1_Missense_Mutation_p.G115C|SKOR1_ENST00000554054.1_Missense_Mutation_p.G96C			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	124					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.G115C(3)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGTGGCCCTGGGCATCACGTG	0.637																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	15											77	75	76					15																	68118536		2200	4298	6498	65905590	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"SKI transcriptional corepressors"	21326	protein-coding gene	gene with protein product	"transcriptional corepressor CORL1", "functional smad suppressing element 15", "corepressor for LBX1"	611273	"Lbxcor1 homolog (mouse)"	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.370G>T	15.37:g.68118536G>T	ENSP00000369374:p.Gly124Cys	392	4.85436893203883	20					65905590	269	43.1289640591966	204	A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind,superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind	p.G115C	ENST00000380035.2	37	c.343		15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446174	0.84101	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	4.83	4.83	0.62350	.	0.055041	0.64402	D	0.000001	D	0.90625	0.7060	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91745	0.5407	10	0.66056	D	0.02	-20.4951	16.5018	0.84259	0.0:0.0:1.0:0.0	.	115	P84550-3	.	C	310;85;96;124;115	ENSP00000343200:G310C;ENSP00000451193:G85C;ENSP00000452361:G96C;ENSP00000369374:G124C;ENSP00000373654:G115C	ENSP00000343200:G310C	G	+	1	0	SKOR1	65905590	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.713000	0.98740	2.220000	0.72140	0.561000	0.74099	GGC	-	HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind		0.637	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	LBXCOR1	protein_coding	OTTHUMT00000410832.1	G	NM_001031807		65905590	1	no_errors	NM_001031807.1	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	68118536	G	T	68118536	3	4	160	1	0	0	0	0	1	0	0	0	8655	1232	43	4	349	4	LBXCOR1	15	68118536	Missense_Mutation	SNP	G	TCGA-AB-2976-03A-01D-0739-09		68118536	34412856	17	1816											
SEMA7A	8482	genome.wustl.edu	37	15	74706985	74706985	+	Silent	SNP	C	C	T	rs149328667	byFrequency	TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr15:74706985C>T	ENST00000261918.4	-	10	1745	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	SEMA7A_ENST00000542748.1_Silent_p.T234T|SEMA7A_ENST00000543145.2_Silent_p.T385T	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	399	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|immune response (GO:0006955)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|olfactory lobe development (GO:0021988)|osteoblast differentiation (GO:0001649)|positive regulation of axon extension (GO:0045773)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of protein phosphorylation (GO:0001934)|regulation of inflammatory response (GO:0050727)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.T399T(3)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GGAACAATGGCGTCTTCAGAG	0.592													C|||	4	0.000798722	0.003	0	5008	,	,		18141	0		0	False		,,,				2504	0					dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	15						C	,,	16,4378	23.3+/-48.9	0,16,2181	89	96	94		1155,702,1197	-10.4	0.1	15	dbSNP_134	94	2,8590	2.2+/-6.3	0,2,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	SEMA7A	NM_001146029.1,NM_001146030.1,NM_003612.3	,,	0,18,6475	TT,TC,CC		0.0233,0.3641,0.1386	,,	385/653,234/502,399/667	74706985	18,12968	2197	4296	6493	72494038	SO:0001819	synonymous_variant	0			AF069493	CCDS10262.1, CCDS53958.1, CCDS53959.1	15q22.3-q23	2014-07-18	2006-02-23		ENSG00000138623	ENSG00000138623		"Semaphorins", "CD molecules", "Blood group antigens", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10741	protein-coding gene	gene with protein product	"John Milton Hagen blood group", "H-Sema K1"	607961	"sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A", "sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)"	SEMAL		9721204	Standard	NM_003612		Approved	H-Sema-L, CD108	uc002axv.3	O75326	OTTHUMG00000139000	ENST00000261918.4:c.1197G>A	15.37:g.74706985C>T		649	8.71	62		10	44.44	8	72494038	196	44.19	156	B4DDP7|F5H1S0|Q1XE81|Q1XE82|Q1XE83|Q1XE84|Q3MIY5	Silent	SNP	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMSmart_IG,HMMSmart_PSI,superfamily_Plexin-like_fold,superfamily_SSF48726	p.T399	ENST00000261918.4	37	c.1197	CCDS10262.1	15																																																																																			-	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema		0.592	SEMA7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA7A	protein_coding	OTTHUMT00000272904.3	C	NM_003612		72494038	-1	no_errors	NM_003612.1	genbank	human	reviewed	54_36p	silent	SNP	0.001	T	T	74706985	C	T	74706985	2	4	160	1	0	0	0	0	0	0	0	1	14043	755	27	1		1	SEMA7A	15	74706985	Silent	SNP	C	TCGA-AB-2976-03A-01D-0739-09	6588449	74706985	27824407	18	1817											
LRRC37B	114659	genome.wustl.edu	37	17	30377109	30377110	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr17:30377109_30377110insT	ENST00000341671.7	+	11	2769_2770	c.2764_2765insT	c.(2764-2766)attfs	p.I922fs	LRRC37B_ENST00000327564.7_Frame_Shift_Ins_p.I949fs|LRRC37B_ENST00000584368.1_Frame_Shift_Ins_p.I883fs|LRRC37B_ENST00000394713.3_Frame_Shift_Ins_p.I871fs|LRRC37B_ENST00000543378.2_Frame_Shift_Ins_p.I840fs	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	922						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.C924fs*9(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TTTGATTATAATTTTTTGTCTT	0.312																																						dbGAP											3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	17																																								27401223	SO:0001589	frameshift_variant	0			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"KIAA0563-related"					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2770dupT	17.37:g.30377115_30377115dupT	ENSP00000340519:p.Ile922fs	988	5.36	56		9	50	9	27401222	560	0.18	1	Q17RC9|Q5YKG6	Frame_Shift_Ins	INS	HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_L domain-like	p.C924fs	ENST00000341671.7	37	c.2764_2765	CCDS32609.1	17																																																																																			-	NULL		0.312	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	protein_coding	OTTHUMT00000446508.1	-	NM_052888		27401223	1	no_errors	NM_052888.2	genbank	human	validated	54_36p	frame_shift_ins	INS	0.201:0.224	T	T	30377110	-	T	30377109	7	5	160	1	0	1	1	0	0	0	0	0	8994	101	4	0	2806	0	LRRC37B	17	30377109	Frame_Shift_Ins	INS	-	TCGA-AB-2976-03A-01D-0739-09		30377109	50818101	19	1818											
SDK2	54549	genome.wustl.edu	37	17	71397162	71397162	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chr17:71397162G>T	ENST00000392650.3	-	21	2968	c.2968C>A	c.(2968-2970)Cca>Aca	p.P990T	SDK2_ENST00000388726.3_Missense_Mutation_p.P990T	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	990	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P990T(3)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CACTTACCTGGGGGCACCCCA	0.642																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	17											33	30	31					17																	71397162		2199	4281	6480	68908757	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	19308	protein-coding gene	gene with protein product		607217	"sidekick homolog 2 (chicken)"			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.2968C>A	17.37:g.71397162G>T	ENSP00000376421:p.Pro990Thr	778	7.27	61		0	100	1	68908757	258	50.38	263	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	HMMSmart_IGc2,HMMSmart_IG,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,HMMPfam_I-set,HMMPfam_ig,superfamily_SSF48726	p.P669T	ENST00000392650.3	37	c.2005	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641812	0.67244	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.63096	-0.02;0.0;1.35	4.68	4.68	0.58851	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.75777	2.31	0.80722	D	1	D;D;D	0.71674	0.992;0.997;0.998	D;D;D	0.79108	0.986;0.981;0.992	T	0.80037	-0.1550	10	0.45353	T	0.12	.	17.6095	0.88048	0.0:0.0:1.0:0.0	.	990;990;990	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	T	614;990;990;166;990	ENSP00000376421:P990T;ENSP00000373378:P990T;ENSP00000407098:P166T	ENSP00000324967:P990T	P	-	1	0	SDK2	68908757	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	9.710000	0.98732	2.156000	0.67533	0.561000	0.74099	CCA	-	superfamily_FN_III-like		0.642	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	protein_coding	OTTHUMT00000327598.2	G	NM_019064		68908757	-1	no_errors	ENST00000334543	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	71397162	G	T	71397162	3	4	160	1	0	0	0	0	1	0	0	0	13969	1232	43	4	3650	4	SDK2	17	71397162	Missense_Mutation	SNP	G	TCGA-AB-2976-03A-01D-0739-09	41020053	71397162	9798048	20	1819											
MED14	9282	genome.wustl.edu	37	X	40531148	40531148	+	Missense_Mutation	SNP	T	T	C	rs372684601		TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chrX:40531148T>C	ENST00000324817.1	-	23	3216	c.3098A>G	c.(3097-3099)aAt>aGt	p.N1033S		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1033	Pro-rich.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.N1033S(3)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGAGACTGATTGACTGTGCT	0.398																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	X						T	SER/ASN	0,3835		0,0,1632,571	231	197	208		3098	4.3	0.9	X		208	1,6727		0,1,2427,1872	no	missense	MED14	NM_004229.3	46	0,1,4059,2443	CC,CT,TT,T		0.0149,0.0,0.0095	benign	1033/1455	40531148	1,10562	2203	4300	6503	40416092	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.3098A>G	X.37:g.40531148T>C	ENSP00000323720:p.Asn1033Ser	885	12.03	121		1	98.31	58	40416092	86	93.52	1241	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	HMMPfam_MED14	p.N1033S	ENST00000324817.1	37	c.3098	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	T	6.723	0.502159	0.12822	0.0	1.49E-4	ENSG00000180182	ENST00000324817	.	.	.	5.52	4.31	0.51392	.	0.200179	0.49916	N	0.000133	T	0.23289	0.0563	L	0.29908	0.895	0.26271	N	0.978423	B	0.02656	0.0	B	0.04013	0.001	T	0.33574	-0.9863	9	0.02654	T	1	.	6.1894	0.20516	0.0:0.1018:0.3194:0.5789	.	1033	O60244	MED14_HUMAN	S	1033	.	ENSP00000323720:N1033S	N	-	2	0	MED14	40416092	1.000000	0.71417	0.943000	0.38184	0.992000	0.81027	3.648000	0.54410	0.683000	0.31428	0.486000	0.48141	AAT	-	NULL		0.398	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	T	NM_004229		40416092	-1	no_errors	NM_004229.3	genbank	human	reviewed	54_36p	missense	SNP	0.797	C	C	40531148	T	C	40531148	3	2	160	1	0	0	0	0	1	0	0	0	9432	1493	52	3	1302	3	MED14	23	40531148	Missense_Mutation	SNP	T	TCGA-AB-2976-03A-01D-0739-09		40531148	114739412	21	1820											
PHF6	84295	genome.wustl.edu	37	X	133547992	133547992	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2976-03A-01D-0739-09	TCGA-AB-2976-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5bd15984-630f-46a9-a99e-0c24b26f2ed7	fc79912e-0c78-44d9-9951-4b2dfcd349c9	g.chrX:133547992G>A	ENST00000332070.3	+	7	927	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	PHF6_ENST00000370803.3_Missense_Mutation_p.C242Y|PHF6_ENST00000370799.1_Missense_Mutation_p.C243Y|PHF6_ENST00000394292.1_Missense_Mutation_p.C243Y|PHF6_ENST00000370800.4_Missense_Mutation_p.C243Y|PHF6_ENST00000416404.2_Missense_Mutation_p.C208Y	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	242	Extended PHD2 domain (ePHD2).				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)	p.C242Y(3)		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)					CATTATAAGTGCATGGTAAGC	0.363			"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	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	X											124	116	119					X																	133547992		2203	4300	6503	133375658	SO:0001583	missense	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.725G>A	X.37:g.133547992G>A	ENSP00000329097:p.Cys242Tyr	334	11.64	44		1	96.15	25	133375658	48	92.25	571	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger	p.C242Y	ENST00000332070.3	37	c.725	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019686	0.75275	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.91407	-2.02;-2.02;-2.02;-2.02;-2.02;-2.84	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.96500	0.8858	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.997;0.997;0.997	D;D;D;D;D	0.83275	0.995;0.996;0.996;0.996;0.991	D	0.97439	1.0020	10	0.87932	D	0	-7.8224	17.3046	0.87191	0.0:0.0:1.0:0.0	.	208;242;242;243;243	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	Y	242;242;243;243;208;243	ENSP00000359839:C242Y;ENSP00000329097:C242Y;ENSP00000377831:C243Y;ENSP00000359835:C243Y;ENSP00000394480:C208Y;ENSP00000359836:C243Y	ENSP00000329097:C242Y	C	+	2	0	PHF6	133375658	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.399000	0.97285	2.386000	0.81285	0.594000	0.82650	TGC	-	NULL		0.363	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458		133375658	1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	133547992	G	A	133547992	3	1	160	1	0	0	0	0	1	0	0	0	11838	1319	46	2	750	2	PHF6	23	133547992	Missense_Mutation	SNP	G	TCGA-AB-2976-03A-01D-0739-09	93016844	133547992	21722568	22	1821											
PLCH2	9651	genome.wustl.edu	37	1	2418350	2418350	+	Missense_Mutation	SNP	C	C	T	rs369730924		TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr1:2418350C>T	ENST00000419816.2	+	6	1095	c.821C>T	c.(820-822)gCg>gTg	p.A274V	PLCH2_ENST00000449969.1_Missense_Mutation_p.A247V|PLCH2_ENST00000378488.3_Missense_Mutation_p.A274V|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A274V			O75038	PLCH2_HUMAN	phospholipase C, eta 2	274					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.A121V(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GCCTAGATGGCGGGTGTGACC	0.617																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1						C	VAL/ALA	1,4235		0,1,2117	43	47	45		821	-0.7	0	1		45	0,8480		0,0,4240	no	missense	PLCH2	NM_014638.2	64	0,1,6357	TT,TC,CC		0.0,0.0236,0.0079	benign	274/1417	2418350	1,12715	2118	4240	6358	2408210	SO:0001583	missense	0			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"EF-hand domain containing"	29037	protein-coding gene	gene with protein product		612836	"phospholipase C-like 4"	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.821C>T	1.37:g.2418350C>T	ENSP00000389803:p.Ala274Val	67	9.46	7		4	0	0	2408210	39	49.35	38	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_PI-PLC-X,HMMSmart_SM00148,HMMPfam_PI-PLC-Y,HMMSmart_SM00149,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00054,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_efhand_like,superfamily_PLC-like phosphodiesterases,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_EF-hand,superfamily_PH domain-like	p.A274V	ENST00000419816.2	37	c.821		1	.	.	.	.	.	.	.	.	.	.	C	4.405	0.074852	0.08485	2.36E-4	0.0	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000343889;ENST00000278878	T;T;T	0.44083	0.93;0.93;0.93	3.87	-0.689	0.11313	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.957840	0.08668	N	0.911327	T	0.17023	0.0409	N	0.04355	-0.22	0.09310	N	1	B;B;B;B	0.19583	0.037;0.002;0.035;0.009	B;B;B;B	0.20184	0.028;0.01;0.008;0.01	T	0.18713	-1.0328	10	0.33940	T	0.23	.	1.1056	0.01693	0.3709:0.316:0.1307:0.1823	.	121;62;247;274	B9DI81;B9DI82;O75038-2;O75038	.;.;.;PLCH2_HUMAN	V	247;274;274;121;62	ENSP00000397289:A247V;ENSP00000367747:A274V;ENSP00000367749:A274V	ENSP00000278878:A62V	A	+	2	0	PLCH2	2408210	0.000000	0.05858	0.001000	0.08648	0.046000	0.14306	-0.107000	0.10873	-0.375000	0.07955	-0.258000	0.10820	GCG	-	HMMPfam_efhand_like,superfamily_EF-hand		0.617	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	protein_coding	OTTHUMT00000467514.1	C	NM_014638		2408210	1	no_errors	NM_014638.2	genbank	human	provisional	54_36p	missense	SNP	0.000	T	T	2418350	C	T	2418350	3	4	161	1	0	0	0	0	1	0	0	0	12038	768	27	1	843	1	PLCH2	1	2418350	Missense_Mutation	SNP	C	TCGA-AB-2977-03A-01D-0739-09		2418350	246832271	1	1822											
TTN	7273	genome.wustl.edu	37	2	179402121	179402121	+	Silent	SNP	C	C	T			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr2:179402121C>T	ENST00000591111.1	-	305	95114	c.94890G>A	c.(94888-94890)caG>caA	p.Q31630Q	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342175.6_Silent_p.Q24398Q|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Silent_p.Q24331Q|TTN_ENST00000460472.2_Silent_p.Q24206Q|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.Q33271Q|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Silent_p.Q30703Q|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31630					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q24206Q(1)|p.Q30701Q(1)|p.Q24398Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTGCTGAGCTGGACTTTGT	0.318																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	2											83	70	74					2																	179402121		1867	4098	5965	179110367	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.94890G>A	2.37:g.179402121C>T		219	17.05	45					179110367	348	50.43	354	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_Ypt/Rab-GAP domain of gyp1p,PatternScan_RCC1_2,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_beta-sandwich domain of Sec23/24	p.S30703N	ENST00000591111.1	37	c.92108		2																																																																																			-	NULL		0.318	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179110367	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_133378.3	genbank	human	reviewed	54_36p	missense	SNP	0.999	T	T	179402121	C	T	179402121	2	4	161	1	0	0	0	0	0	0	0	1	16732	796	28	2		2	TTN	2	179402121	Silent	SNP	C	TCGA-AB-2977-03A-01D-0739-09		179402121	63797252	2	1823											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	270	12.34	38		22	57.69	30	208821358	197	41.59	141	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	161	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2977-03A-01D-0739-09	29710992	209113113	34086260	3	1824											
ZNF721	170960	genome.wustl.edu	37	4	437878	437878	+	Silent	SNP	T	T	C			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr4:437878T>C	ENST00000338977.5	-	2	390	c.342A>G	c.(340-342)caA>caG	p.Q114Q	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.Q126Q			Q8TF20	ZN721_HUMAN	zinc finger protein 721	114					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q126Q(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTCCTTTATGTTGAGTTAGGT	0.373																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	4											119	129	126					4																	437878		2154	4287	6441	427878	SO:0001819	synonymous_variant	0			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"Zinc fingers, C2H2-type", "-"	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.342A>G	4.37:g.437878T>C		260	6.79	19		3	0	0	427878	267	45.17	220	Q69YG7	Silent	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.Q126	ENST00000338977.5	37	c.378		4																																																																																			-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	protein_coding	OTTHUMT00000357939.1	T	NM_133474		427878	-1	no_errors	NM_133474.2	genbank	human	validated	54_36p	silent	SNP	0.017	C	C	437878	T	C	437878	2	2	161	1	0	0	0	0	0	0	0	1	18119	1722	60	3		3	ZNF721	4	437878	Silent	SNP	T	TCGA-AB-2977-03A-01D-0739-09		437878	190716398	4	1825											
FBXL7	23194	genome.wustl.edu	37	5	15936890	15936890	+	Silent	SNP	C	C	T			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr5:15936890C>T	ENST00000504595.1	+	4	1552	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	FBXL7_ENST00000510662.1_Silent_p.I310I|FBXL7_ENST00000329673.7_Silent_p.I345I|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	357					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.I357I(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ACCTGAGCATCGCGCACTGCG	0.672																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	5											30	34	33					5																	15936890		2190	4272	6462	15989890	SO:0001819	synonymous_variant	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"F-boxes / Leucine-rich repeats"	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.1071C>T	5.37:g.15936890C>T		184	11.85	25					15989890	206	44.47	169	B9EGF1|D6RDY7|O94926	Silent	SNP	HMMPfam_F-box,HMMSmart_SM00256,HMMSmart_SM00367,superfamily_RNI-like	p.I357	ENST00000504595.1	37	c.1071	CCDS54833.1	5																																																																																			-	HMMSmart_SM00367,superfamily_RNI-like		0.672	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	protein_coding	OTTHUMT00000366117.1	C	NM_012304		15989890	1	no_errors	NM_012304.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	15936890	C	T	15936890	2	4	161	1	0	0	0	0	0	0	0	1	5724	874	31	1		1	FBXL7	5	15936890	Silent	SNP	C	TCGA-AB-2977-03A-01D-0739-09		15936890	164978370	5	1826											
GPR98	84059	genome.wustl.edu	37	5	89925318	89925318	+	Missense_Mutation	SNP	G	G	A	rs375085032		TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr5:89925318G>A	ENST00000405460.2	+	9	1897	c.1801G>A	c.(1801-1803)Gat>Aat	p.D601N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	601					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D601N(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		aataagaaatgatgcattcct	0.333																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											65	64	64					5																	89925318		1844	4085	5929	89961074	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"-", "GPCR / Class B : Orphans"	17416	protein-coding gene	gene with protein product		602851	"monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.1801G>A	5.37:g.89925318G>A	ENSP00000384582:p.Asp601Asn	232	11.79	31					89961074	334	40.36	226	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	HMMPfam_GPS,PatternScan_LIPOYL,HMMPfam_Calx-beta,HMMSmart_SM00237,HMMPfam_EPTP,PatternScan_A_DEAMINASE,superfamily_Concanavalin A-like lectins/glucanases	p.D601N	ENST00000405460.2	37	c.1801	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.357952	0.95854	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.60171	0.21	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77935	0.4205	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78375	-0.2228	10	0.51188	T	0.08	.	19.441	0.94821	0.0:0.0:1.0:0.0	.	601	Q8WXG9	GPR98_HUMAN	N	601	ENSP00000384582:D601N	ENSP00000296619:D601N	D	+	1	0	GPR98	89961074	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.184000	0.94893	2.603000	0.88011	0.655000	0.94253	GAT	-	NULL		0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89961074	1	no_errors	NM_032119.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	89925318	G	A	89925318	3	1	161	1	0	0	0	0	1	0	0	0	6721	1290	45	2	1835	2	GPR98	5	89925318	Missense_Mutation	SNP	G	TCGA-AB-2977-03A-01D-0739-09	73988428	89925318	90989942	6	1827											
OR5AR1	219493	genome.wustl.edu	37	11	56431699	56431699	+	Missense_Mutation	SNP	G	G	A	rs138342920	byFrequency	TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr11:56431699G>A	ENST00000302969.2	+	1	562	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E180K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTTCTTCTGCGAAATCCCACC	0.483													G|||	2	0.000399361	8e-04	0	5008	,	,		21972	0.001		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											214	189	197					11																	56431699		2201	4296	6497	56188275	SO:0001583	missense	0			AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"GPCR / Class A : Olfactory receptors"	15260	protein-coding gene	gene with protein product			"olfactory receptor, family 5, subfamily AR, member 1"				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.538G>A	11.37:g.56431699G>A	ENSP00000302639:p.Glu180Lys	214	13.71	34					56188275	539	44.05	426	Q6IF61	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.E180K	ENST00000302969.2	37	c.538	CCDS31535.1	11	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058017	0.76074	.	.	ENSG00000172459	ENST00000302969	T	0.00202	8.56	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000151	T	0.00468	0.0015	M	0.74467	2.265	0.29430	N	0.859955	D	0.67145	0.996	P	0.60682	0.878	T	0.49011	-0.8983	10	0.87932	D	0	.	13.8882	0.63721	0.0:0.0:0.8473:0.1526	.	180	Q8NGP9	O5AR1_HUMAN	K	180	ENSP00000302639:E180K	ENSP00000302639:E180K	E	+	1	0	OR5AR1	56188275	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.479000	0.53165	2.554000	0.86153	0.573000	0.79308	GAA	-	HMMPfam_7tm_1,superfamily_SSF81321		0.483	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AR1	protein_coding	OTTHUMT00000334434.1	G	NM_001004730		56188275	1	no_errors	NM_001004730.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	56431699	G	A	56431699	3	1	161	1	0	0	0	0	1	0	0	0	11145	1059	37	1	540	1	OR5AR1	11	56431699	Missense_Mutation	SNP	G	TCGA-AB-2977-03A-01D-0739-09		56431699	78574817	7	1828											
RIN1	9610	genome.wustl.edu	37	11	66103116	66103116	+	Silent	SNP	G	G	A			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr11:66103116G>A	ENST00000311320.4	-	4	546	c.420C>T	c.(418-420)gaC>gaT	p.D140D	RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Silent_p.D35D|RIN1_ENST00000530056.1_Silent_p.D35D|RIN1_ENST00000524804.1_5'Flank	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	140	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.D140D(1)		breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GCTGGACTAGGTCTGGGAACA	0.647																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	11											50	49	49					11																	66103116		2200	4295	6495	65859692	SO:0001819	synonymous_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.420C>T	11.37:g.66103116G>A		199	15.68	37		5	16.67	1	65859692	86	47.88	79	O15010|Q00427|Q96CC8	Silent	SNP	HMMPfam_RA,HMMSmart_SM00314,HMMSmart_SM00252,HMMPfam_VPS9,HMMSmart_SM00167,superfamily_VPS9 domain (Pfam 02204),superfamily_SH2 domain	p.D140	ENST00000311320.4	37	c.420	CCDS31614.1	11																																																																																			-	HMMSmart_SM00252,superfamily_SH2 domain		0.647	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	protein_coding	OTTHUMT00000392980.2	G	NM_004292		65859692	-1	no_errors	NM_004292.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	66103116	G	A	66103116	2	1	161	1	0	0	0	0	0	0	0	1	13371	1252	44	2		2	RIN1	11	66103116	Silent	SNP	G	TCGA-AB-2977-03A-01D-0739-09	9671417	66103116	68903400	8	1829											
C13orf18	80183	genome.wustl.edu	37	13	46946148	46946148	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2977-03A-01D-0739-09	TCGA-AB-2977-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	56189e90-e223-4523-b613-10df5b2eb23d	4992751b-33fc-4136-bcbc-564c6854cef3	g.chr13:46946148C>T	ENST00000429979.1	-	3	1067	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A155T|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A155T|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A88T|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A155T|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A20T|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A155T|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000480935.1_5'Flank	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	155								p.A155T(1)		NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GGGGAGGTGGCCAAAATCCCA	0.502																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											71	69	70					13																	46946148		2203	4300	6503	45844149	SO:0001583	missense	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"chromosome 13 open reading frame 18"	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.463G>A	13.37:g.46946148C>T	ENSP00000396935:p.Ala155Thr	282	10.97	35					45844149	387	44.21	309	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.A155T	ENST00000429979.1	37	c.463	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	C	11.37	1.619367	0.28801	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000534925;ENST00000417405;ENST00000439642	T;T;T;T;T;T;T;T;T	0.56776	0.48;0.62;0.56;0.62;0.62;0.56;0.69;0.53;0.44	5.65	0.809	0.18725	.	0.973510	0.08458	N	0.942813	T	0.31009	0.0783	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.25007	0.116;0.011;0.006;0.011;0.011	B;B;B;B;B	0.24155	0.051;0.009;0.002;0.006;0.009	T	0.21621	-1.0240	10	0.33940	T	0.23	-1.9327	3.8523	0.08960	0.2843:0.4762:0.0:0.2395	.	155;155;155;88;155	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	T	155;155;155;88;155;155;20;20;155	ENSP00000368057:A155T;ENSP00000396935:A155T;ENSP00000368074:A155T;ENSP00000368061:A88T;ENSP00000374558:A155T;ENSP00000368064:A155T;ENSP00000437501:A20T;ENSP00000402357:A20T;ENSP00000414579:A155T	ENSP00000368057:A155T	A	-	1	0	KIAA0226L	45844149	0.000000	0.05858	0.005000	0.12908	0.006000	0.05464	0.052000	0.14163	0.046000	0.15833	0.655000	0.94253	GCC	-	NULL		0.502	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	C13orf18	protein_coding	OTTHUMT00000044809.2	C	NM_025113		45844149	-1	no_errors	NM_025113.2	genbank	human	validated	54_36p	missense	SNP	0.001	T	T	46946148	C	T	46946148	3	4	161	1	0	0	0	0	1	0	0	0	1720	739	26	2	1577	2	C13orf18	13	46946148	Missense_Mutation	SNP	C	TCGA-AB-2977-03A-01D-0739-09		46946148	68223730	9	1830											
PRKAA2	5563	genome.wustl.edu	37	1	57161723	57161723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr1:57161723C>T	ENST00000371244.4	+	6	745	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	227	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.R227*(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	TAAGAAGATCCGAGGGGGTGT	0.443																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	1											293	291	292					1																	57161723		2203	4300	6503	56934311	SO:0001587	stop_gained	0			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.679C>T	1.37:g.57161723C>T	ENSP00000360290:p.Arg227*	838	2.9	25					56934311	194	49.74	192	Q9H1E8|Q9UD43	Nonsense_Mutation	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.R227*	ENST00000371244.4	37	c.679	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.041286	0.97226	.	.	ENSG00000162409	ENST00000371244	.	.	.	5.98	3.94	0.45596	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-8.9339	14.1147	0.65146	0.4497:0.5503:0.0:0.0	.	.	.	.	X	227	.	ENSP00000360290:R227X	R	+	1	2	PRKAA2	56934311	0.284000	0.24287	1.000000	0.80357	0.947000	0.59692	0.095000	0.15127	1.361000	0.45981	0.655000	0.94253	CGA	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.443	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	protein_coding	OTTHUMT00000022753.2	C	NM_006252		56934311	1	no_errors	NM_006252.3	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	57161723	C	T	57161723	4	4	162	1	0	0	0	0	0	1	0	0	12494	644	23	1	701	1	PRKAA2	1	57161723	Nonsense_Mutation	SNP	C	TCGA-AB-2978-03A-01D-0739-09		57161723	192088898	1	1831											
NRAS	4893	genome.wustl.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	G	rs11554290	byFrequency	TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr1:115256529T>G	ENST00000369535.4	-	3	435	c.182A>C	c.(181-183)cAa>cCa	p.Q61P		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	1016	Substitution - Missense(1016)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	1											180	156	164					1																	115256529		2203	4300	6503	115058052	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>C	1.37:g.115256529T>G	ENSP00000358548:p.Gln61Pro	749	1.19	9		23	39.47	15	115058052	69	25	23	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q61P	ENST00000369535.4	37	c.182	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930531	0.73327	.	.	ENSG00000213281	ENST00000369535	D	0.84146	-1.81	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.92708	0.7682	H	0.97806	4.08	0.80722	D	1	B	0.29253	0.239	P	0.45681	0.49	D	0.93564	0.6898	10	0.87932	D	0	.	15.0132	0.71565	0.0:0.0:0.0:1.0	.	61	P01111	RASN_HUMAN	P	61	ENSP00000358548:Q61P	ENSP00000358548:Q61P	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	T	NM_002524		115058052	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	115256529	T	G	115256529	3	3	162	1	0	0	0	0	1	0	0	0	10640	1812	63	5	399	5	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-AB-2978-03A-01D-0739-09	58094806	115256529	133994092	2	1832											
TET2	54790	genome.wustl.edu	37	4	106183007	106183008	+	Splice_Site	INS	-	-	T			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr4:106183007_106183008insT	ENST00000540549.1	+	8	4904		c.e8+2		TET2_ENST00000513237.1_Splice_Site|TET2_ENST00000545826.1_Splice_Site|TET2_ENST00000380013.4_Splice_Site			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2						5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.?(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AATAATCAGGTAAGTTTAAATA	0.302			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)	4																																								106402457	SO:0001630	splice_region_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4044+2->T	4.37:g.106183007_106183007dupT		384	0	0		6	0	0	106402456	83	0	0	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Splice_Site	INS	-	e3+2	ENST00000540549.1	37	c.450+2_450+1	CCDS47120.1	4																																																																																			-	-		0.302	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	-	NM_017628	Intron	106402457	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	splice_site_ins	INS	1.000:0.991	T	T	106183008	-	T	106183007	8	5	162	1	0	1	1	0	0	0	1	0	15767	1652	57	0	4157	0	TET2	4	106183007	Splice_Site	INS	-	TCGA-AB-2978-03A-01D-0739-09		106183007	84971269	3	1833											
TET2	54790	genome.wustl.edu	37	4	106196213	106196213	+	Nonsense_Mutation	SNP	C	C	T	rs370735654		TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr4:106196213C>T	ENST00000540549.1	+	11	5406	c.4546C>T	c.(4546-4548)Cga>Tga	p.R1516*	TET2_ENST00000513237.1_Nonsense_Mutation_p.R1537*|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Nonsense_Mutation_p.R1516*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1516					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R1516*(8)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGAACTTTTGCGACTTTCAGG	0.502			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	8	Substitution - Nonsense(8)	haematopoietic_and_lymphoid_tissue(8)	4						C	stop/ARG	0,1384		0,0,692	29	36	34		4546	3.4	0	4		34	1,3181		0,1,1590	no	stop-gained	TET2	NM_001127208.2		0,1,2282	TT,TC,CC		0.0314,0.0,0.0219		1516/2003	106196213	1,4565	692	1591	2283	106415662	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4546C>T	4.37:g.106196213C>T	ENSP00000442788:p.Arg1516*	881	3.72	34		12	55.56	15	106415662	360	40.79	248	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.R318*	ENST00000540549.1	37	c.952	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	49	15.416196	0.99833	0.0	3.14E-4	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	.	.	.	5.12	3.36	0.38483	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2977	8.2504	0.31715	0.1552:0.7658:0.0:0.0791	.	.	.	.	X	1516;1537;1516	.	ENSP00000369351:R1516X	R	+	1	2	TET2	106415662	1.000000	0.71417	0.008000	0.14137	0.980000	0.70556	2.624000	0.46444	0.533000	0.28675	0.580000	0.79431	CGA	-	NULL		0.502	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106415662	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	nonsense	SNP	0.992	T	T	106196213	C	T	106196213	4	4	162	1	0	0	0	0	0	1	0	0	15767	760	27	1	4669	1	TET2	4	106196213	Nonsense_Mutation	SNP	C	TCGA-AB-2978-03A-01D-0739-09	13206	106196213	84958063	4	1834											
HOOK3	84376	genome.wustl.edu	37	8	42823287	42823287	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr8:42823287C>G	ENST00000307602.4	+	11	1252	c.1052C>G	c.(1051-1053)aCt>aGt	p.T351S		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	351					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.T351S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGCAGAATACTGTCAGTCTA	0.403			T	RET	papillary thyroid																																	dbGAP		Dom	yes		8	8p11.21	84376	hook homolog 3		E	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	8											91	89	90					8																	42823287		2203	4300	6503	42942444	SO:0001583	missense	0			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"hook homolog 3 (Drosophila)"			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1052C>G	8.37:g.42823287C>G	ENSP00000305699:p.Thr351Ser	758	4.17	33		15	46.43	13	42942444	65	42.98	49	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	HMMPfam_HOOK	p.T351S	ENST00000307602.4	37	c.1052	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323183	0.60634	.	.	ENSG00000168172	ENST00000307602	T	0.20738	2.05	5.37	5.37	0.77165	.	0.145358	0.64402	D	0.000012	T	0.39332	0.1074	L	0.55103	1.725	0.41085	D	0.985559	D;P	0.69078	0.997;0.664	D;P	0.70487	0.969;0.527	T	0.07558	-1.0766	10	0.08599	T	0.76	-18.8514	19.0793	0.93175	0.0:1.0:0.0:0.0	.	351;351	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	S	351	ENSP00000305699:T351S	ENSP00000305699:T351S	T	+	2	0	HOOK3	42942444	1.000000	0.71417	0.998000	0.56505	0.801000	0.45260	4.961000	0.63681	2.649000	0.89929	0.655000	0.94253	ACT	-	HMMPfam_HOOK		0.403	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	protein_coding	OTTHUMT00000383172.2	C	NM_032410		42942444	1	no_errors	NM_032410.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	42823287	C	G	42823287	3	3	162	1	0	0	0	0	1	0	0	0	7284	565	20	4	1094	4	HOOK3	8	42823287	Missense_Mutation	SNP	C	TCGA-AB-2978-03A-01D-0739-09		42823287	103540735	5	1835											
PXDNL	137902	genome.wustl.edu	37	8	52321633	52321633	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr8:52321633C>T	ENST00000356297.4	-	17	2651	c.2551G>A	c.(2551-2553)Gac>Aac	p.D851N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D851N	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	851					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.D50N(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCCGGGGGTCGGCGTGCCGG	0.697																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	8											17	22	20					8																	52321633		2036	4167	6203	52484186	SO:0001583	missense	0				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"Immunoglobulin superfamily / I-set domain containing"	26359	protein-coding gene	gene with protein product	"polysomal ribonuclease 1 homolog (Xenopus)"	615904	"peroxidasin homolog-like (Drosophila)"			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2551G>A	8.37:g.52321633C>T	ENSP00000348645:p.Asp851Asn	249	1.58	4					52484186	40	34.43	21	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_LRR_1,HMMPfam_An_peroxidase,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_Heme-dependent peroxidases,HMMPfam_I-set,superfamily_Immunoglobulin,superfamily_L domain-like	p.D851N	ENST00000356297.4	37	c.2551	CCDS47855.1	8	.	.	.	.	.	.	.	.	.	.	C	17.20	3.328598	0.60743	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.85171	-1.95;-1.95	3.25	2.34	0.29019	.	0.545329	0.16040	N	0.232480	D	0.91331	0.7266	H	0.96943	3.91	0.29509	N	0.854321	P	0.47762	0.9	P	0.47673	0.554	D	0.87267	0.2283	10	0.66056	D	0.02	.	11.1673	0.48550	0.0:0.8874:0.0:0.1126	.	851	A1KZ92	PXDNL_HUMAN	N	851	ENSP00000348645:D851N;ENSP00000444865:D851N	ENSP00000348645:D851N	D	-	1	0	PXDNL	52484186	1.000000	0.71417	0.002000	0.10522	0.001000	0.01503	4.937000	0.63513	0.065000	0.16485	-0.942000	0.02676	GAC	-	HMMPfam_An_peroxidase,superfamily_Heme-dependent peroxidases		0.697	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDNL	protein_coding	OTTHUMT00000377905.1	C	NM_144651		52484186	-1	no_errors	NM_144651.4	genbank	human	validated	54_36p	missense	SNP	0.996	T	T	52321633	C	T	52321633	3	4	162	1	0	0	0	0	1	0	0	0	12848	884	31	1	1868	1	PXDNL	8	52321633	Missense_Mutation	SNP	C	TCGA-AB-2978-03A-01D-0739-09	9498346	52321633	94042389	6	1836											
OR51L1	119682	genome.wustl.edu	37	11	5020927	5020927	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr11:5020927G>A	ENST00000321543.1	+	1	715	c.715G>A	c.(715-717)Gca>Aca	p.A239T		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A239T(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGCTAAAGGCACTCAACAC	0.433																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											242	210	221					11																	5020927		2201	4298	6499	4977503	SO:0001583	missense	0			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"GPCR / Class A : Olfactory receptors"	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.715G>A	11.37:g.5020927G>A	ENSP00000322156:p.Ala239Thr	902	3.74	35					4977503	210	28.08	82	Q6IFE5	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.A239T	ENST00000321543.1	37	c.715	CCDS31369.1	11	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811892	0.70797	.	.	ENSG00000176798	ENST00000321543	T	0.00357	7.89	5.43	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000718	T	0.00496	0.0016	M	0.74546	2.27	0.27858	N	0.940493	P	0.45715	0.865	P	0.49421	0.61	T	0.52343	-0.8588	10	0.46703	T	0.11	.	13.53	0.61617	0.0775:0.0:0.9225:0.0	.	239	Q8NGJ5	O51L1_HUMAN	T	239	ENSP00000322156:A239T	ENSP00000322156:A239T	A	+	1	0	OR51L1	4977503	0.994000	0.37717	1.000000	0.80357	0.855000	0.48748	2.402000	0.44521	2.822000	0.97130	0.650000	0.86243	GCA	-	HMMPfam_7tm_1,superfamily_SSF81321		0.433	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51L1	protein_coding	OTTHUMT00000142812.1	G	NM_001004755		4977503	1	no_errors	NM_001004755.1	genbank	human	provisional	54_36p	missense	SNP	0.995	A	A	5020927	G	A	5020927	3	1	162	1	0	0	0	0	1	0	0	0	11102	1203	42	2	717	2	OR51L1	11	5020927	Missense_Mutation	SNP	G	TCGA-AB-2978-03A-01D-0739-09		5020927	129985589	7	1837											
OR5M1	390168	genome.wustl.edu	37	11	56380881	56380881	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr11:56380881G>A	ENST00000526538.1	-	1	97	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A33V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TAGGTAGATCGCAAGGAATAC	0.493																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											176	168	171					11																	56380881		1974	4152	6126	56137457	SO:0001583	missense	0			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"GPCR / Class A : Olfactory receptors"	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.98C>T	11.37:g.56380881G>A	ENSP00000435416:p.Ala33Val	811	1.1	9					56137457	114	24.5	37	Q6IF60|Q96RB6	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.A33V	ENST00000526538.1	37	c.98	CCDS53631.1	11	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.989048	0.00439	.	.	ENSG00000255012	ENST00000526538	T	0.01304	5.03	3.71	-4.71	0.03279	.	0.706820	0.11479	N	0.559933	T	0.00412	0.0013	N	0.00538	-1.39	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.42732	-0.9434	10	0.05436	T	0.98	-10.9499	6.0199	0.19623	0.4171:0.3321:0.2509:0.0	.	33	Q8NGP8	OR5M1_HUMAN	V	33	ENSP00000435416:A33V	ENSP00000435416:A33V	A	-	2	0	OR5M1	56137457	0.000000	0.05858	0.132000	0.22025	0.255000	0.26057	0.093000	0.15086	-0.690000	0.05142	-1.819000	0.00600	GCG	-	superfamily_SSF81321		0.493	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	protein_coding	OTTHUMT00000391610.1	G	NM_001004740		56137457	-1	no_errors	NM_001004740.1	genbank	human	provisional	54_36p	missense	SNP	0.053	A	A	56380881	G	A	56380881	3	1	162	1	0	0	0	0	1	0	0	0	11172	1087	38	1	853	1	OR5M1	11	56380881	Missense_Mutation	SNP	G	TCGA-AB-2978-03A-01D-0739-09	51359954	56380881	78625635	8	1838											
CBL	867	genome.wustl.edu	37	11	119168130	119168130	+	Silent	SNP	G	G	A	rs143840974	byFrequency	TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr11:119168130G>A	ENST00000264033.4	+	14	2566	c.2190G>A	c.(2188-2190)acG>acA	p.T730T		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	730	Asp/Glu-rich (acidic).|Interaction with CD2AP.				cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T730T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		ATAGCTGTACGTATGAAGCAA	0.393			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													dbGAP		"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	11											117	106	110					11																	119168130		2199	4295	6494	118673340	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.2190G>A	11.37:g.119168130G>A		528	2.04	11		17	34.62	9	118673340	90	28	35	A3KMP8	Silent	SNP	HMMPfam_UBA,HMMSmart_RING,HMMPfam_Cbl_N,superfamily_Adaptor_Cbl_N,HMMPfam_Cbl_N2,HMMPfam_Cbl_N3,HMMSmart_UBA,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF47473,superfamily_SSF55550,superfamily_SSF57850	p.T730	ENST00000264033.4	37	c.2190	CCDS8418.1	11																																																																																			-	NULL		0.393	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	protein_coding	OTTHUMT00000388219.4	G	NM_005188		118673340	1	no_errors	NM_005188.2	genbank	human	reviewed	54_36p	silent	SNP	0.666	A	A	119168130	G	A	119168130	2	1	162	1	0	0	0	0	0	0	0	1	2700	1132	40	1		1	CBL	11	119168130	Silent	SNP	G	TCGA-AB-2978-03A-01D-0739-09	62787249	119168130	15838386	9	1839											
RASSF9	9182	genome.wustl.edu	37	12	86199196	86199196	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr12:86199196G>T	ENST00000361228.3	-	2	960	c.592C>A	c.(592-594)Cat>Aat	p.H198N		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	198					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.H198N(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACTTGCTGATGAATAGTATGG	0.378																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											150	140	143					12																	86199196		1840	4100	5940	84723327	SO:0001583	missense	0				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.592C>A	12.37:g.86199196G>T	ENSP00000354884:p.His198Asn	535	0.74	4					84723327	110	22.54	32	B3KMQ4|Q8N5U8	Missense_Mutation	SNP	HMMSmart_SM00314	p.H198N	ENST00000361228.3	37	c.592	CCDS44950.1	12	.	.	.	.	.	.	.	.	.	.	G	11.12	1.543760	0.27563	.	.	ENSG00000198774	ENST00000361228	T	0.42900	0.96	4.9	3.06	0.35304	.	0.368487	0.28052	N	0.016788	T	0.34395	0.0896	L	0.44542	1.39	0.33295	D	0.564031	B	0.06786	0.001	B	0.06405	0.002	T	0.38286	-0.9668	10	0.30854	T	0.27	-16.6722	13.078	0.59097	0.0:0.0:0.5779:0.4221	.	198	O75901	RASF9_HUMAN	N	198	ENSP00000354884:H198N	ENSP00000354884:H198N	H	-	1	0	RASSF9	84723327	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.208000	0.51114	0.591000	0.29711	-0.133000	0.14855	CAT	-	NULL		0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	protein_coding	OTTHUMT00000406109.1	G			84723327	-1	no_errors	NM_005447.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	86199196	G	T	86199196	3	4	162	1	0	0	0	0	1	0	0	0	13093	1290	45	4	719	4	RASSF9	12	86199196	Missense_Mutation	SNP	G	TCGA-AB-2978-03A-01D-0739-09		86199196	47652699	10	1840											
DOCK9	23348	genome.wustl.edu	37	13	99457268	99457268	+	Missense_Mutation	SNP	G	G	A	rs373489385		TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr13:99457268G>A	ENST00000376460.1	-	52	5832	c.5752C>T	c.(5752-5754)Cgc>Tgc	p.R1918C	DOCK9_ENST00000339416.2_Missense_Mutation_p.R1905C	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1919	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R1919C(1)		breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGGATGGTGCGCCGTTTGCAC	0.587																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13						G	CYS/ARG,CYS/ARG	0,4044		0,0,2022	71	74	73		5752,5755	4.3	1	13		73	1,8361		0,1,4180	no	missense,missense	DOCK9	NM_001130048.1,NM_015296.2	180,180	0,1,6202	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	1918/2069,1919/2070	99457268	1,12405	2022	4181	6203	98255269	SO:0001583	missense	0			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"Pleckstrin homology (PH) domain containing"	14132	protein-coding gene	gene with protein product	"zizimin1"	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.5752C>T	13.37:g.99457268G>A	ENSP00000365643:p.Arg1918Cys	531	4.49	25		1	0	0	98255269	85	37.5	51	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto,superfamily_PH domain-like	p.R1919C	ENST00000376460.1	37	c.5755	CCDS45062.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.169088|4.169088	0.78339|0.78339	0.0|0.0	1.2E-4|1.2E-4	ENSG00000088387|ENSG00000088387	ENST00000400228|ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000400220;ENST00000339416;ENST00000376453	.|T;T	.|0.25579	.|1.79;1.79	5.2|5.2	4.33|4.33	0.51752|0.51752	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59609|0.59609	0.2206|0.2206	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.85130	.|0.993;0.987;0.992;0.995;0.997;0.977	T|T	0.71303|0.71303	-0.4633|-0.4633	5|10	.|0.87932	.|D	.|0	.|.	15.2509|15.2509	0.73545|0.73545	0.0:0.0:0.8585:0.1415|0.0:0.0:0.8585:0.1415	.|.	.|624;537;1918;1919;574;536	.|B7Z6H5;B7Z2J2;Q9BZ29-5;Q9BZ29;B7Z6G9;F5H1Q4	.|.;.;.;DOCK9_HUMAN;.;.	V|C	480|1918;1919;1911;1896;1918;826;1905;536	.|ENSP00000365643:R1918C;ENSP00000341086:R1905C	.|ENSP00000341086:R1905C	A|R	-|-	2|1	0|0	DOCK9|DOCK9	98255269|98255269	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.336000|3.336000	0.52113|0.52113	1.285000|1.285000	0.44548|0.44548	0.655000|0.655000	0.94253|0.94253	GCG|CGC	-	HMMPfam_Ded_cyto		0.587	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	protein_coding	OTTHUMT00000045566.1	G	NM_015296		98255269	-1	no_errors	NM_015296.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	99457268	G	A	99457268	3	1	162	1	0	0	0	0	1	0	0	0	4694	1087	38	1	478	1	DOCK9	13	99457268	Missense_Mutation	SNP	G	TCGA-AB-2978-03A-01D-0739-09		99457268	15712610	11	1841											
DNAH9	1770	genome.wustl.edu	37	17	11642257	11642257	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr17:11642257G>A	ENST00000262442.4	+	29	5943	c.5875G>A	c.(5875-5877)Gag>Aag	p.E1959K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E1959K|AC005701.1_ENST00000584990.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1959	AAA 1. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.E1959K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTTGGGGAGGAGATCAGCCT	0.483																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											125	111	116					17																	11642257		2203	4300	6503	11582982	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5875G>A	17.37:g.11642257G>A	ENSP00000262442:p.Glu1959Lys	814	2.28	19					11582982	190	46.78	167	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.E1959K	ENST00000262442.4	37	c.5875	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110479	0.37242	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.39997	1.05;1.05	5.84	5.84	0.93424	ATPase, AAA+ type, core (1);	0.211058	0.39615	N	0.001308	T	0.44477	0.1295	L	0.55481	1.735	0.80722	D	1	B	0.20052	0.041	B	0.27608	0.081	T	0.25222	-1.0138	10	0.21540	T	0.41	.	20.1392	0.98050	0.0:0.0:1.0:0.0	.	1959	Q9NYC9	DYH9_HUMAN	K	1959;1959;541	ENSP00000262442:E1959K;ENSP00000414874:E1959K	ENSP00000262442:E1959K	E	+	1	0	DNAH9	11582982	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	4.774000	0.62339	2.751000	0.94390	0.591000	0.81541	GAG	-	HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.483	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11582982	1	no_errors	NM_001372.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	11642257	G	A	11642257	3	1	162	1	0	0	0	0	1	0	0	0	4608	1175	41	2	5989	2	DNAH9	17	11642257	Missense_Mutation	SNP	G	TCGA-AB-2978-03A-01D-0739-09		11642257	69552953	12	1842											
U2AF1L4	199746	genome.wustl.edu	37	19	36234765	36234765	+	Silent	SNP	G	G	T	rs576356371		TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr19:36234765G>T	ENST00000412391.2	-	7	536	c.523C>A	c.(523-525)Cgg>Agg	p.R175R	U2AF1L4_ENST00000378975.3_Silent_p.R136R|IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank|IGFLR1_ENST00000592537.1_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|U2AF1L4_ENST00000292879.5_Nonsense_Mutation_p.C116*|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000592889.1_5'Flank|PSENEN_ENST00000591949.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|PSENEN_ENST00000587708.2_5'Flank|PSENEN_ENST00000222266.2_5'Flank|IGFLR1_ENST00000588992.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	175					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.C116*(1)|p.R136R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAAATGGGCCGCAGATGCATG	0.582													G|||	1	0.000199681	0	0.0014	5008	,	,		16220	0		0	False		,,,				2504	0					dbGAP											2	Substitution - Nonsense(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(2)	19											53	52	52					19																	36234765		2203	4300	6503	40926605	SO:0001819	synonymous_variant	0			BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"RNA binding motif (RRM) containing"	23020	protein-coding gene	gene with protein product		601080	"U2(RNU2) small nuclear RNA auxiliary factor 1-like 3", "U2 small nuclear RNA auxiliary factor 1-like 3"	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.523C>A	19.37:g.36234765G>T		309	3.13	10		3	62.5	5	40926605	49	37.97	30	A6NKI8|Q56UU3	Nonsense_Mutation	SNP	HMMPfam_zf-CCCH,HMMSmart_RRM_1,superfamily_SSF54928	p.C116*	ENST00000412391.2	37	c.348		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.71|13.71	2.317127|2.317127	0.40996|0.40996	.|.	.|.	ENSG00000161265|ENSG00000161265	ENST00000392196|ENST00000292879	.|.	.|.	.|.	5.43|5.43	0.941|0.941	0.19519|0.19519	.|.	.|1.906560	.|0.02393	.|N	.|0.079938	T|.	0.09818|.	0.0241|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.23735|.	0.09|.	B|.	0.17433|.	0.018|.	T|.	0.30995|.	-0.9959|.	7|.	0.87932|0.02654	D|T	0|1	-6.7426|-6.7426	1.3922|1.3922	0.02253|0.02253	0.2444:0.1472:0.4567:0.1518|0.2444:0.1472:0.4567:0.1518	.|.	56|.	B4E1T9|.	.|.	E|X	56|116	.|.	ENSP00000376034:A56E|ENSP00000292879:C116X	A|C	-|-	2|3	0|2	U2AF1L4|U2AF1L4	40926605|40926605	0.341000|0.341000	0.24801|0.24801	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	1.902000|1.902000	0.39848|0.39848	0.127000|0.127000	0.18452|0.18452	-0.176000|-0.176000	0.13171|0.13171	GCG|TGC	-	NULL		0.582	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	U2AF1L4	protein_coding		G	NM_144987		40926605	-1	no_errors	NM_144987.1	genbank	human	validated	54_36p	nonsense	SNP	0.996	T	T	36234765	G	T	36234765	2	4	162	1	0	0	0	0	0	0	0	1	16819	1088	38	4		4	U2AF1L4	19	36234765	Silent	SNP	G	TCGA-AB-2978-03A-01D-0739-09		36234765	22894218	13	1843											
CEACAM19	56971	genome.wustl.edu	37	19	45184539	45184539	+	Silent	SNP	C	C	A			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr19:45184539C>A	ENST00000403660.3	+	6	957	c.747C>A	c.(745-747)ctC>ctA	p.L249L	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000358777.4_Silent_p.L249L|CEACAM19_ENST00000480278.1_3'UTR			Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	249						integral component of membrane (GO:0016021)		p.L249L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CTCCAGTCCTCCTGGTGTCCC	0.592																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	19											110	89	96					19																	45184539		2203	4300	6503	49876379	SO:0001819	synonymous_variant	0			AF406955	CCDS12641.1, CCDS46108.1	19q13.31	2013-01-11			ENSG00000186567	ENSG00000186567		"Immunoglobulin superfamily / V-set domain containing"	31951	protein-coding gene	gene with protein product		606691					Standard	NM_020219		Approved	CEAL1	uc002ozo.4	Q7Z692	OTTHUMG00000151528	ENST00000403660.3:c.747C>A	19.37:g.45184539C>A		729	3.18	24		2	60	3	49876379	59	39.8	39	Q5XJ15|Q7Z693	Silent	SNP	superfamily_Immunoglobulin	p.L249	ENST00000403660.3	37	c.747	CCDS12641.1	19																																																																																			-	NULL		0.592	CEACAM19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM19	protein_coding	OTTHUMT00000323022.1	C	NM_020219		49876379	1	no_errors	NM_020219.1	genbank	human	validated	54_36p	silent	SNP	0.676	A	A	45184539	C	A	45184539	2	1	162	1	0	0	0	0	0	0	0	1	3190	842	30	4		4	CEACAM19	19	45184539	Silent	SNP	C	TCGA-AB-2978-03A-01D-0739-09	8949774	45184539	13944444	14	1844											
RUNX1	861	genome.wustl.edu	37	21	36231783	36231783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chr21:36231783G>A	ENST00000344691.4	-	3	2097	c.520C>T	c.(520-522)Cga>Tga	p.R174*	RUNX1_ENST00000325074.5_Nonsense_Mutation_p.R189*|RUNX1_ENST00000437180.1_Nonsense_Mutation_p.R201*|RUNX1_ENST00000399240.1_Nonsense_Mutation_p.R174*|RUNX1_ENST00000486278.2_Nonsense_Mutation_p.R177*|RUNX1_ENST00000300305.3_Nonsense_Mutation_p.R201*|RUNX1_ENST00000358356.5_Nonsense_Mutation_p.R174*	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.R201*(5)|p.R201G(1)		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						CGAGGTTCTCGGGGCCCATCC	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	6	Substitution - Nonsense(5)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(5)|large_intestine(1)	21	GRCh37	CM992141	RUNX1	M							274	240	251					21																	36231783		2203	4300	6503	35153653	SO:0001587	stop_gained	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.520C>T	21.37:g.36231783G>A	ENSP00000340690:p.Arg174*	519	1.52	8		216	19.63	53	35153653	25	46.81	22	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Nonsense_Mutation	SNP	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.R201*	ENST00000344691.4	37	c.601	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.081424	0.98643	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278	.	.	.	5.12	4.21	0.49690	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7194	12.147	0.54028	0.0:0.0:0.8085:0.1914	.	.	.	.	X	174;201;201;189;174;177;174;189;177	.	ENSP00000300305:R201X	R	-	1	2	RUNX1	35153653	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.798000	0.47884	1.088000	0.41272	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	G			35153653	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	36231783	G	A	36231783	4	1	162	1	0	0	0	0	0	1	0	0	13746	1124	39	1	890	1	RUNX1	21	36231783	Nonsense_Mutation	SNP	G	TCGA-AB-2978-03A-01D-0739-09		36231783	11898112	15	1845											
ATP6AP2	10159	genome.wustl.edu	37	X	40456845	40456845	+	Missense_Mutation	SNP	C	C	T	rs146371390	byFrequency	TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chrX:40456845C>T	ENST00000378438.4	+	5	621	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.R123C|ATP6AP2_ENST00000535777.1_Intron|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.R79C|ATP6AP2_ENST00000486558.1_3'UTR	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	155					angiotensin maturation (GO:0002003)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|eye pigmentation (GO:0048069)|head morphogenesis (GO:0060323)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of Wnt signaling pathway (GO:0030177)|proteolysis (GO:0006508)|regulation of MAPK cascade (GO:0043408)|rostrocaudal neural tube patterning (GO:0021903)	cell body (GO:0044297)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|receptor activity (GO:0004872)	p.R155C(1)		endometrium(1)|large_intestine(1)|lung(2)	4						GCGCCAGCTCCGTAATCGCCT	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X						C	CYS/ARG	2,3833		0,2,1630,571	97	88	91		463	5.4	0.9	X	dbSNP_134	91	0,6728		0,0,2428,1872	no	missense	ATP6AP2	NM_005765.2	180	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	probably-damaging	155/351	40456845	2,10561	2203	4300	6503	40341789	SO:0001583	missense	0			AF248966	CCDS14252.1	Xp11.4	2014-06-17	2003-08-28	2003-08-29	ENSG00000182220	ENSG00000182220			18305	protein-coding gene	gene with protein product	"prorenin receptor", "renin receptor"	300556	"ATPase, H+ transporting, lysosomal interacting protein 2"	ATP6IP2		9556572, 11590366	Standard	NM_005765		Approved	M8-9, APT6M8-9, ATP6M8-9, PRR, RENR	uc004det.3	O75787	OTTHUMG00000024103	ENST00000378438.4:c.463C>T	X.37:g.40456845C>T	ENSP00000367697:p.Arg155Cys	810	3.57	30		130	0	0	40341789	36	26.53	13	B7Z9I3|Q5QTQ7|Q6T7F5|Q8NBP3|Q8NG15|Q96FV6|Q96LB5|Q9H2P8|Q9UG89	Missense_Mutation	SNP	HMMPfam_Renin_r	p.R155C	ENST00000378438.4	37	c.463	CCDS14252.1	X	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663339	0.88251	5.22E-4	0.0	ENSG00000182220	ENST00000535539;ENST00000378438;ENST00000436783;ENST00000544975	T;T;T;T	0.51071	1.44;1.4;0.72;1.39	5.39	5.39	0.77823	.	0.045227	0.85682	D	0.000000	T	0.65407	0.2688	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.993	P;P;P	0.60609	0.877;0.487;0.53	T	0.67015	-0.5777	10	0.52906	T	0.07	-10.3144	18.482	0.90815	0.0:1.0:0.0:0.0	.	123;79;155	B7Z9I3;B7Z413;O75787	.;.;RENR_HUMAN	C	123;155;155;79	ENSP00000438415:R123C;ENSP00000367697:R155C;ENSP00000403969:R155C;ENSP00000440459:R79C	ENSP00000367697:R155C	R	+	1	0	ATP6AP2	40341789	1.000000	0.71417	0.937000	0.37676	0.908000	0.53690	7.232000	0.78116	2.393000	0.81446	0.513000	0.50165	CGT	-	NULL		0.403	ATP6AP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP2	protein_coding	OTTHUMT00000060679.1	C	NM_005765		40341789	1	no_errors	NM_005765.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	40456845	C	T	40456845	3	4	162	1	0	0	0	0	1	0	0	0	1167	652	23	1	481	1	ATP6AP2	23	40456845	Missense_Mutation	SNP	C	TCGA-AB-2978-03A-01D-0739-09		40456845	114813715	16	1846											
SYTL4	94121	genome.wustl.edu	37	X	99936232	99936232	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chrX:99936232C>T	ENST00000372989.1	-	16	1881	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	SYTL4_ENST00000276141.6_Missense_Mutation_p.R517Q|SYTL4_ENST00000263033.5_Missense_Mutation_p.R517Q|SYTL4_ENST00000454200.2_Missense_Mutation_p.R519Q|SYTL4_ENST00000491602.1_5'Flank|SYTL4_ENST00000455616.1_Missense_Mutation_p.R517Q	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	517	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.R517Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""Insulin(DB00071)|Insulin Regular(DB00030)"	ACTCTTTTTCCGGTCACCTCC	0.512																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											60	54	56					X																	99936232		2203	4300	6503	99822888	SO:0001583	missense	0				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"granuphilin-a", "exophilin-2"	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1550G>A	X.37:g.99936232C>T	ENSP00000362080:p.Arg517Gln	640	0.31	2		2	0	0	99822888	105	32.69	51	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMPfam_RPH3A_effector,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_FYVE/PHD zinc finger	p.R517Q	ENST00000372989.1	37	c.1550	CCDS14472.1	X	.	.	.	.	.	.	.	.	.	.	C	9.565	1.119573	0.20877	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05	4.98	2.12	0.27331	C2 calcium/lipid-binding domain, CaLB (1);	0.439888	0.23896	N	0.043482	T	0.15912	0.0383	L	0.47716	1.5	0.28354	N	0.920789	B	0.09022	0.002	B	0.06405	0.002	T	0.12293	-1.0553	9	.	.	.	-3.1743	7.6911	0.28569	0.1355:0.7082:0.0:0.1563	.	517	Q96C24	SYTL4_HUMAN	Q	517;517;519;517;517	ENSP00000362080:R517Q;ENSP00000390252:R517Q;ENSP00000403556:R519Q;ENSP00000276141:R517Q;ENSP00000263033:R517Q	.	R	-	2	0	SYTL4	99822888	0.897000	0.30589	1.000000	0.80357	0.994000	0.84299	1.214000	0.32419	1.096000	0.41439	0.468000	0.43344	CGG	-	superfamily_C2 domain (Calcium/lipid-binding domain CaLB)		0.512	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	protein_coding	OTTHUMT00000057488.1	C	NM_080737		99822888	-1	no_errors	NM_080737.1	genbank	human	validated	54_36p	missense	SNP	0.989	T	T	99936232	C	T	99936232	3	4	162	1	0	0	0	0	1	0	0	0	15482	652	23	1	481	1	SYTL4	23	99936232	Missense_Mutation	SNP	C	TCGA-AB-2978-03A-01D-0739-09	59479387	99936232	55334328	17	1847											
STAG2	10735	genome.wustl.edu	37	X	123220476	123220476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2978-03A-01D-0739-09	TCGA-AB-2978-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	960efb3b-7c3b-42ec-8f29-011d13493c69	be9d0262-d1fa-48c4-bba6-0d5415fb9b52	g.chrX:123220476C>T	ENST00000371160.1	+	30	3423	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	STAG2_ENST00000371145.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R976*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R1045*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R1045*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1045					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.R1045*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCTTACCGAAATTCTTT	0.433																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	X											190	157	168					X																	123220476		2203	4300	6503	123048157	SO:0001587	stop_gained	0			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3133C>T	X.37:g.123220476C>T	ENSP00000360202:p.Arg1045*	989	1.4	14		6	62.5	10	123048157	145	20.33	37	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Nonsense_Mutation	SNP	HMMPfam_STAG,superfamily_ARM-type_fold	p.R1045*	ENST00000371160.1	37	c.3133	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	C	43	10.078881	0.99332	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.22	0.396	0.16309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0759	15.262	0.73631	0.6782:0.3218:0.0:0.0	.	.	.	.	X	1045;976;1045;1045;1045;1045	.	ENSP00000218089:R1045X	R	+	1	2	STAG2	123048157	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	1.174000	0.31932	0.105000	0.17753	-0.364000	0.07487	CGA	-	superfamily_ARM-type_fold		0.433	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	protein_coding	OTTHUMT00000156159.2	C	NM_006603		123048157	1	no_errors	NM_001042749.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	123220476	C	T	123220476	4	4	162	1	0	0	0	0	0	1	0	0	15242	644	23	1	3243	1	STAG2	23	123220476	Nonsense_Mutation	SNP	C	TCGA-AB-2978-03A-01D-0739-09	23284244	123220476	32050084	18	1848											
GBP4	115361	genome.wustl.edu	37	1	89652147	89652147	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr1:89652147C>T	ENST00000355754.6	-	10	1673	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	GBP4_ENST00000471938.1_5'Flank	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	526						cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.E526K(1)|p.E526*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TGCTGCTGCTCCTTCTGTTTT	0.478																																						dbGAP											2	Substitution - Nonsense(1)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	1											135	103	114					1																	89652147		2203	4300	6503	89424735	SO:0001583	missense	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.1576G>A	1.37:g.89652147C>T	ENSP00000359490:p.Glu526Lys	1470	1.6	24		8	50	8	89424735	1485	32.53	717	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540	p.E526K	ENST00000355754.6	37	c.1576	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	C	13.74	2.327023	0.41197	.	.	ENSG00000162654	ENST00000355754	T	0.02216	4.39	4.3	4.3	0.51218	Guanylate-binding protein, C-terminal (3);	0.394676	0.26307	N	0.025135	T	0.03520	0.0101	L	0.59436	1.845	0.21933	N	0.99947	D	0.63046	0.992	D	0.65773	0.938	T	0.48990	-0.8985	10	0.16420	T	0.52	.	14.6316	0.68660	0.0:1.0:0.0:0.0	.	526	Q96PP9	GBP4_HUMAN	K	526	ENSP00000359490:E526K	ENSP00000359490:E526K	E	-	1	0	GBP4	89424735	0.000000	0.05858	0.042000	0.18584	0.030000	0.12068	0.529000	0.23019	2.367000	0.80283	0.491000	0.48974	GAG	-	HMMPfam_GBP_C,superfamily_GBP		0.478	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	protein_coding	OTTHUMT00000029409.1	C	NM_052941		89424735	-1	no_errors	NM_052941.4	genbank	human	validated	54_36p	missense	SNP	0.530	T	T	89652147	C	T	89652147	3	4	163	1	0	0	0	0	1	0	0	0	6276	864	30	2	354	2	GBP4	1	89652147	Missense_Mutation	SNP	C	TCGA-AB-2979-03A-01D-0739-09		89652147	159598474	1	1849											
KCNA3	3738	genome.wustl.edu	37	1	111216736	111216736	+	Silent	SNP	C	C	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr1:111216736C>T	ENST00000369769.2	-	1	919	c.696G>A	c.(694-696)ccG>ccA	p.P232P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	232					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)	p.P232P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TGCCCCGGGCCGGCCCGGAGC	0.672																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											32	40	38					1																	111216736		2203	4300	6503	111018259	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.696G>A	1.37:g.111216736C>T		214	3.57	8		15	37.5	9	111018259	275	49.45	272	Q5VWN2	Silent	SNP	HMMSmart_BTB,HMMPfam_K_tetra,HMMPfam_Ion_trans,superfamily_BTB/POZ_fold,superfamily_SSF81324	p.P232	ENST00000369769.2	37	c.696	CCDS828.2	1																																																																																			-	superfamily_SSF81324		0.672	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	protein_coding	OTTHUMT00000083391.1	C	NM_002232		111018259	-1	no_errors	NM_002232.3	genbank	human	reviewed	54_36p	silent	SNP	0.967	T	T	111216736	C	T	111216736	2	4	163	1	0	0	0	0	0	0	0	1	8004	639	23	1		1	KCNA3	1	111216736	Silent	SNP	C	TCGA-AB-2979-03A-01D-0739-09	21564589	111216736	138033885	2	1850											
TMEM198	130612	genome.wustl.edu	37	2	220413919	220413919	+	Missense_Mutation	SNP	G	G	A	rs144974523	byFrequency	TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr2:220413919G>A	ENST00000344458.2	+	5	1373	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.R263Q|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	263	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R263Q(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		ATGCGGATTCGGCAGCAGGAA	0.632													G|||	26	0.00519169	0.0197	0	5008	,	,		19007	0		0	False		,,,				2504	0					dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	2						G	GLN/ARG	55,4351	54.9+/-90.9	0,55,2148	91	98	96		788	4.6	1	2	dbSNP_134	96	2,8598	2.2+/-6.3	0,2,4298	yes	missense	TMEM198	NM_001005209.1	43	0,57,6446	AA,AG,GG		0.0233,1.2483,0.4383	probably-damaging	263/361	220413919	57,12949	2203	4300	6503	220122163	SO:0001583	missense	0			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.788G>A	2.37:g.220413919G>A	ENSP00000343507:p.Arg263Gln	265	4.68	13					220122163	235	43.51	181		Missense_Mutation	SNP	NULL	p.R263Q	ENST00000344458.2	37	c.788	CCDS33385.1	2	9	0.004120879120879121	9	0.018292682926829267	0	0.0	0	0.0	0	0.0	G	21.5	4.158298	0.78114	0.012483	2.33E-4	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.48	4.59	0.56863	.	0.298390	0.30547	N	0.009398	T	0.09774	0.0240	N	0.25485	0.75	0.29115	N	0.880629	D	0.61080	0.989	B	0.42798	0.398	T	0.08391	-1.0724	9	0.45353	T	0.12	-23.256	5.8112	0.18467	0.2626:0.0:0.7374:0.0	.	263	Q66K66	TM198_HUMAN	Q	263	.	ENSP00000343507:R263Q	R	+	2	0	TMEM198	220122163	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.508000	0.67006	2.751000	0.94390	0.555000	0.69702	CGG	-	NULL		0.632	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM198	protein_coding	OTTHUMT00000131063.1	G	NM_001005209		220122163	1	no_errors	NM_001005209.1	genbank	human	provisional	54_36p	missense	SNP	0.998	A	A	220413919	G	A	220413919	3	1	163	1	0	0	0	0	1	0	0	0	16116	1116	39	1	798	1	TMEM198	2	220413919	Missense_Mutation	SNP	G	TCGA-AB-2979-03A-01D-0739-09		220413919	22785454	3	1851											
PKHD1	5314	genome.wustl.edu	37	6	51524181	51524181	+	Silent	SNP	G	G	C			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr6:51524181G>C	ENST00000371117.3	-	61	11018	c.10743C>G	c.(10741-10743)ctC>ctG	p.L3581L		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3581					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.L3581L(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTAGTCTTTCGAGTATTACTA	0.433																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	6											85	87	86					6																	51524181		2203	4300	6503	51632140	SO:0001819	synonymous_variant	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"tigmin", "polyductin", "fibrocystin"	606702	"TIG multiple domains 1"	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10743C>G	6.37:g.51524181G>C		968	2.02	20					51632140	1292	45.56	1083	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	HMMPfam_TIG,HMMSmart_SM00429,HMMSmart_SM00710,superfamily_Pectin lyase-like,superfamily_E set domains,HMMPfam_G8	p.L3581	ENST00000371117.3	37	c.10743	CCDS4935.1	6																																																																																			-	NULL		0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51632140	-1	no_errors	NM_138694.3	genbank	human	reviewed	54_36p	silent	SNP	0.391	C	C	51524181	G	C	51524181	2	2	163	1	0	0	0	0	0	0	0	1	11971	1045	37	4		4	PKHD1	6	51524181	Silent	SNP	G	TCGA-AB-2979-03A-01D-0739-09		51524181	119590886	4	1852											
TRIM24	8805	genome.wustl.edu	37	7	138266451	138266451	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr7:138266451C>T	ENST00000343526.4	+	17	2943	c.2728C>T	c.(2728-2730)Cgc>Tgc	p.R910C	TRIM24_ENST00000415680.2_Missense_Mutation_p.R876C			O15164	TIF1A_HUMAN	tripartite motif containing 24	910					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R876C(1)|p.R910C(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GAAGTGTGAGCGCCTACTTTT	0.318																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	7											92	92	92					7																	138266451		2203	4300	6503	137916991	SO:0001583	missense	0			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"Tripartite motif containing / Tripartite motif containing", "RING-type (C3HC4) zinc fingers", "Zinc fingers, PHD-type"	11812	protein-coding gene	gene with protein product		603406	"transcriptional intermediary factor 1", "tripartite motif-containing 24"	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2728C>T	7.37:g.138266451C>T	ENSP00000340507:p.Arg910Cys	1009	2.13	22		49	43.02	37	137916991	697	40.9	483	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	HMMPfam_zf-B_box,HMMSmart_SM00336,HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain,HMMSmart_SM00184,HMMSmart_SM00249,HMMSmart_SM00502,superfamily_FYVE/PHD zinc finger,PatternScan_ZF_RING_1,PatternScan_BROMODOMAIN_1,HMMPfam_zf-C3HC4,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_RING/U-box	p.R910C	ENST00000343526.4	37	c.2728	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663308	0.67700	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680	T;T	0.31510	1.49;1.49	5.78	2.79	0.32731	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57556	-0.7791	10	0.87932	D	0	-10.9616	10.2007	0.43082	0.3064:0.622:0.0:0.0716	.	910;876	O15164;O15164-2	TIF1A_HUMAN;.	C	910;821;876	ENSP00000340507:R910C;ENSP00000390829:R876C	ENSP00000340507:R910C	R	+	1	0	TRIM24	137916991	0.993000	0.37304	0.994000	0.49952	0.973000	0.67179	1.341000	0.33907	0.866000	0.35629	0.591000	0.81541	CGC	-	HMMPfam_Bromodomain,HMMSmart_SM00297,superfamily_Bromodomain		0.318	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	protein_coding	OTTHUMT00000341814.1	C	NM_015905		137916991	1	no_errors	NM_015905.3	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	138266451	C	T	138266451	3	4	163	1	0	0	0	0	1	0	0	0	16495	768	27	1	2794	1	TRIM24	7	138266451	Missense_Mutation	SNP	C	TCGA-AB-2979-03A-01D-0739-09		138266451	20872212	5	1853											
INS	723961	genome.wustl.edu	37	11	2182073	2182073	+	Silent	SNP	G	G	A	rs201392940	byFrequency	TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr11:2182073G>A	ENST00000397270.1	-	2	187	c.129C>T	c.(127-129)tgC>tgT	p.C43C	INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000512523.1_Silent_p.C43C|INS_ENST00000381330.4_Silent_p.C43C|INS_ENST00000397262.1_Silent_p.C43C|INS_ENST00000250971.3_Silent_p.C43C	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	43						extracellular region (GO:0005576)		p.C43C(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CTCGTTCCCCGCACACTAGGT	0.657													G|||	2	0.000399361	0	0.0014	5008	,	,		14502	0		0.001	False		,,,				2504	0					dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	11											64	66	65					11																	2182073		2200	4299	6499	2138649	SO:0001819	synonymous_variant	0			DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.129C>T	11.37:g.2182073G>A		46	0	0					2138649	42	54.84	51	Q1WM24	Silent	SNP	HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like	p.C43	ENST00000397270.1	37	c.129	CCDS41598.1	11																																																																																			-	HMMPfam_Insulin,HMMSmart_SM00078,superfamily_Insulin-like		0.657	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	INS-IGF2	protein_coding	OTTHUMT00000388404.1	G	NM_001042376.2		2138649	-1	no_errors	NM_001042376.1	genbank	human	reviewed	54_36p	silent	SNP	0.999	A	A	2182073	G	A	2182073	2	1	163	1	0	0	0	0	0	0	0	1	7762	1079	38	1		1	INS	11	2182073	Silent	SNP	G	TCGA-AB-2979-03A-01D-0739-09		2182073	132824443	6	1854											
LIMA1	51474	genome.wustl.edu	37	12	50615952	50615953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	-	-	-	T	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr12:50615952_50615953insT	ENST00000341247.4	-	4	630_631	c.481_482insA	c.(481-483)atgfs	p.M161fs	RP3-405J10.4_ENST00000551284.1_RNA|LIMA1_ENST00000552909.1_Start_Codon_Ins|LIMA1_ENST00000552783.1_Start_Codon_Ins|LIMA1_ENST00000394943.3_Frame_Shift_Ins_p.M161fs|LIMA1_ENST00000552823.1_Start_Codon_Ins|LIMA1_ENST00000552008.1_5'Flank	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	161					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)	p.M161fs*11(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						ACAATTTTCCATTTTTTTACTT	0.421																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	12																																								48902220	SO:0001589	frameshift_variant	0			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"epithelial protein lost in neoplasm beta"	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.482dupA	12.37:g.50615959_50615959dupT	ENSP00000340184:p.Met161fs	763	1.42	11		9	35.71	5	48902219	747	35.55	412	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Frame_Shift_Ins	INS	HMMPfam_LIM,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.M161fs	ENST00000341247.4	37	c.482_481	CCDS8802.1	12																																																																																			-	NULL		0.421	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	protein_coding	OTTHUMT00000406235.2	-	NM_016357		48902220	-1	no_errors	NM_016357.1	genbank	human	validated	54_36p	frame_shift_ins	INS	0.998:0.974	T	T	50615953	-	T	50615952	7	5	163	1	0	1	1	0	0	0	0	0	8796	217	8	0	1832	0	LIMA1	12	50615952	Frame_Shift_Ins	INS	-	TCGA-AB-2979-03A-01D-0739-09		50615952	83235943	7	1855											
CEBPA	1050	genome.wustl.edu	37	19	33792395	33792400	+	In_Frame_Del	DEL	TCCACG	TCCACG	-			TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	TCCACG	TCCACG	TCCACG	-	TCCACG	TCCACG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr19:33792395_33792400delTCCACG	ENST00000498907.2	-	1	1070_1075	c.921_926delCGTGGA	c.(919-927)aacgtggag>aag	p.307_309NVE>K	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	307	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R306_N307del(4)|p.V308_E309insV(4)|p.N307_V308insQRN(3)|p.R306fs*48(3)|p.V308>ADTAKQRNV(2)|p.N307_V308ins16(2)|p.E309fs*21(1)|p.Q305_R306insKAKQR(1)|p.Q305_T310del(1)|p.H200_K352>Q(1)|p.V308_E309insDKAKQRNV(1)|p.V308>ARQGQAAQL(1)|p.N307_Q312del(1)|p.V308_E309insL(1)|p.?(1)|p.E309fs*10(1)|p.E309fs*13(1)|p.N307_V308insH(1)|p.N307_V308insN(1)|p.V308_E309insP(1)|p.V308_E309insGDKAKQRNV(1)|p.E309>AKQRNVE(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					CTGCTGCGTCTCCACGTTGCGCTGCT	0.636			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	34	Insertion - In frame(16)|Deletion - In frame(6)|Complex - insertion inframe(4)|Complex - deletion inframe(4)|Insertion - Frameshift(2)|Unknown(1)|Complex - frameshift(1)	haematopoietic_and_lymphoid_tissue(34)	19																																								38484240	SO:0001651	inframe_deletion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.921_926delCGTGGA	19.37:g.33792395_33792400delTCCACG	ENSP00000427514:p.Asn307_Glu309delinsLys								38484235				A7LNP2|P78319|Q05CA4	In_Frame_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.NVE307in_frame_delK	ENST00000498907.2	37	c.926_921	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.636	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	TCCACG	NM_004364		38484240	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000	-	-	33792400	TCCACG	-	33792395	7	5	163	1	0	1	0	1	0	0	0	0	3199	1551	54	0	154	0	CEBPA	19	33792395	In_Frame_Del	DEL	TCCACG	TCGA-AB-2979-03A-01D-0739-09		33792395	25336588	8	1856											
CEBPA	1050	genome.wustl.edu	37	19	33793119	33793120	+	Frame_Shift_Del	DEL	TG	TG	-	rs137852731		TCGA-AB-2979-03A-01D-0739-09	TCGA-AB-2979-11A-01D-0739-09	TG	TG	TG	-	TG	TG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	16f3a01d-16b0-4405-bab7-1e22fdeb0b24	79b57153-6800-44e6-9f71-4e7323b04470	g.chr19:33793119_33793120delTG	ENST00000498907.2	-	1	350_351	c.201_202delCA	c.(199-204)tacatcfs	p.I68fs	CTD-2540B15.9_ENST00000593041.1_lincRNA|CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	68					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.I68fs*41(4)|p.Y67fs*92(2)|p.S61fs*88(1)|p.I68>NI(1)|p.Y67fs*95(1)|p.I68fs*39(1)|p.Y7_G130del(1)|p.Y67fs*42(1)|p.Y67fs*37(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GCCGGGTCGATGTAGGCGCTGA	0.752			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	13	Insertion - Frameshift(6)|Deletion - Frameshift(5)|Deletion - In frame(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(13)	19	GRCh37	CI087025	CEBPA	I	rs137852731																																			38484960	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.201_202delCA	19.37:g.33793119_33793120delTG	ENSP00000427514:p.Ile68fs	0	0	0		0	48.65	651	38484959	0	42.03	29	A7LNP2|P78319|Q05CA4	Frame_Shift_Del	DEL	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.I68fs	ENST00000498907.2	37	c.202_201	CCDS54243.1	19																																																																																			-	NULL		0.752	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	TG	NM_004364		38484960	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000	-	-	33793120	TG	-	33793119	7	5	163	1	0	1	0	1	0	0	0	0	3199	1464	51	0	878	0	CEBPA	19	33793119	Frame_Shift_Del	DEL	TG	TCGA-AB-2979-03A-01D-0739-09	724	33793119	25335864	9	1857											
RBKS	64080	genome.wustl.edu	37	2	28069916	28069916	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr2:28069916A>C	ENST00000302188.3	-	4	1094	c.342T>G	c.(340-342)aaT>aaG	p.N114K	RBKS_ENST00000444339.2_Missense_Mutation_p.N114K	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	114					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)	p.N114K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TACCTTCATTATTGACAATTA	0.333																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											146	143	144					2																	28069916		2203	4300	6503	27923420	SO:0001583	missense	0			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.342T>G	2.37:g.28069916A>C	ENSP00000306817:p.Asn114Lys	1349	0	0		5	37.5	3	27923420	1449	26.18	514	A9UK04|B4DV96	Missense_Mutation	SNP	PatternScan_PFKB_KINASES_1,PatternScan_PFKB_KINASES_2,HMMPfam_PfkB,superfamily_SSF53613	p.N114K	ENST00000302188.3	37	c.342	CCDS1762.1	2	.	.	.	.	.	.	.	.	.	.	A	15.80	2.938862	0.52972	.	.	ENSG00000171174	ENST00000302188;ENST00000444339	T;T	0.76448	-1.02;-1.02	5.78	4.63	0.57726	Carbohydrate/purine kinase (1);	0.082955	0.85682	D	0.000000	D	0.83760	0.5324	M	0.75150	2.29	0.58432	D	0.999999	D;P	0.59767	0.986;0.875	P;P	0.59115	0.852;0.589	D	0.83810	0.0241	10	0.59425	D	0.04	-6.5972	9.2183	0.37362	0.8438:0.0:0.1562:0.0	.	114;114	B4DV96;Q9H477	.;RBSK_HUMAN	K	114	ENSP00000306817:N114K;ENSP00000413232:N114K	ENSP00000306817:N114K	N	-	3	2	RBKS	27923420	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.689000	0.54706	1.025000	0.39708	0.533000	0.62120	AAT	-	HMMPfam_PfkB,superfamily_SSF53613		0.333	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBKS	protein_coding	OTTHUMT00000215118.1	A	NM_022128		27923420	-1	no_errors	NM_022128.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	28069916	A	C	28069916	3	2	164	1	0	0	0	0	1	0	0	0	13108	446	16	5	646	5	RBKS	2	28069916	Missense_Mutation	SNP	A	TCGA-AB-2980-03A-01D-0739-09		28069916	215129457	1	1858											
XIRP1	165904	genome.wustl.edu	37	3	39225927	39225927	+	Silent	SNP	T	T	C			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr3:39225927T>C	ENST00000340369.3	-	2	5238	c.5010A>G	c.(5008-5010)ccA>ccG	p.P1670P	XIRP1_ENST00000421646.1_Silent_p.P353P|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1670					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.P1670P(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGATAAATGTTGGGGAGGAGG	0.542																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											82	88	86					3																	39225927		2203	4300	6503	39200931	SO:0001819	synonymous_variant	0			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"cardiomyopathy associated 1"	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.5010A>G	3.37:g.39225927T>C		752	0.26	2					39200931	819	30.09	359	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	HMMPfam_Xin	p.P1670	ENST00000340369.3	37	c.5010	CCDS2683.1	3																																																																																			-	NULL		0.542	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	protein_coding	OTTHUMT00000254065.1	T	XM_093522		39200931	-1	no_errors	NM_194293.2	genbank	human	provisional	54_36p	silent	SNP	0.979	C	C	39225927	T	C	39225927	2	2	164	1	0	0	0	0	0	0	0	1	17426	1799	63	3		3	XIRP1	3	39225927	Silent	SNP	T	TCGA-AB-2980-03A-01D-0739-09		39225927	158796503	2	1859											
CACNA2D3	55799	genome.wustl.edu	37	3	54933863	54933863	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr3:54933863T>C	ENST00000474759.1	+	27	2465	c.2417T>C	c.(2416-2418)cTc>cCc	p.L806P	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L806P|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L806P|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L712P	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	806						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.L806P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TCCATCCAGCTCCTGGATGAA	0.433																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											79	79	79					3																	54933863		1944	4140	6084	54908903	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"Calcium channel subunits"	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2417T>C	3.37:g.54933863T>C	ENSP00000419101:p.Leu806Pro	1104	0	0					54908903	920	32.16	437	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMPfam_Cache_1,HMMPfam_VWA_N,superfamily_vWA-like	p.L806P	ENST00000474759.1	37	c.2417	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	T	21.3	4.124985	0.77436	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.58	5.58	0.84498	.	0.070658	0.64402	D	0.000016	T	0.74245	0.3691	N	0.16567	0.415	0.80722	D	1	D	0.61697	0.99	P	0.56788	0.806	T	0.72798	-0.4184	10	0.25106	T	0.35	.	14.0033	0.64446	0.0:0.0:0.0:1.0	.	806	Q8IZS8	CA2D3_HUMAN	P	806;806;806;712;712	ENSP00000389506:L806P;ENSP00000419101:L806P;ENSP00000288197:L806P;ENSP00000417279:L712P	ENSP00000288197:L806P	L	+	2	0	CACNA2D3	54908903	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.755000	0.74914	2.121000	0.65114	0.533000	0.62120	CTC	-	NULL		0.433	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	protein_coding	OTTHUMT00000351402.1	T			54908903	1	no_errors	NM_018398.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	54933863	T	C	54933863	3	2	164	1	0	0	0	0	1	0	0	0	2550	1551	54	3	2523	3	CACNA2D3	3	54933863	Missense_Mutation	SNP	T	TCGA-AB-2980-03A-01D-0739-09	15707936	54933863	143088567	3	1860											
ASTE1	28990	genome.wustl.edu	37	3	130737522	130737522	+	Silent	SNP	G	G	A			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr3:130737522G>A	ENST00000264992.3	-	4	1782	c.1341C>T	c.(1339-1341)acC>acT	p.T447T	ASTE1_ENST00000514044.1_Silent_p.T447T	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	447					DNA repair (GO:0006281)		nuclease activity (GO:0004518)	p.T447T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						TCACCTTCAGGGTTTCTAACA	0.458																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											99	99	99					3																	130737522		2203	4300	6503	132220212	SO:0001819	synonymous_variant	0			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1341C>T	3.37:g.130737522G>A		928	0.11	1		1	75	3	132220212	845	27.17	316	B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	HMMPfam_XPG_N,superfamily_SSF88723	p.T447	ENST00000264992.3	37	c.1341	CCDS3068.1	3	.	.	.	.	.	.	.	.	.	.	G	0.345	-0.948071	0.02304	.	.	ENSG00000034533	ENST00000505290	.	.	.	5.57	-1.54	0.08584	.	.	.	.	.	T	0.40791	0.1131	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23511	-1.0186	4	.	.	.	-6.9232	1.8735	0.03214	0.2029:0.096:0.3395:0.3616	.	.	.	.	L	24	.	.	P	-	2	0	ASTE1	132220212	0.008000	0.16893	0.906000	0.35671	0.032000	0.12392	-1.205000	0.03014	-0.721000	0.04929	-0.137000	0.14449	CCC	-	NULL		0.458	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTE1	protein_coding	OTTHUMT00000356659.1	G	NM_014065		132220212	-1	no_errors	NM_014065.2	genbank	human	validated	54_36p	silent	SNP	0.869	A	A	130737522	G	A	130737522	2	1	164	1	0	0	0	0	0	0	0	1	1062	1219	43	2		2	ASTE1	3	130737522	Silent	SNP	G	TCGA-AB-2980-03A-01D-0739-09	75803659	130737522	67284908	4	1861											
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1800dupTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Asp593_Tyr599dup								27506255				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAA	ATCATATTCATATTCTCTGAA	28608256	-	ATCATATTCATATTCTCTGAA	28608255	7	5	164	1	0	1	1	0	0	0	0	0	5942	942	33	0	1224	0	FLT3	13	28608255	In_Frame_Ins	INS	-	TCGA-AB-2980-03A-01D-0739-09		28608255	86561623	5	1862											
DCT	1638	genome.wustl.edu	37	13	95121165	95121165	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2980-03A-01D-0739-09	TCGA-AB-2980-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	2bcd56a1-1367-4b97-8f35-eceb3dce2e4d	3b04b48e-a9fa-4cc9-98a3-e65c1ee56543	g.chr13:95121165C>T	ENST00000377028.5	-	2	843	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	DCT_ENST00000446125.1_Missense_Mutation_p.A144T|DCT_ENST00000490854.1_5'Flank	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	144					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.A144T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGATCTAAGGCGCCCAAGAAC	0.567																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											223	222	223					13																	95121165		2203	4300	6503	93919166	SO:0001583	missense	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"dopachrome delta-isomerase"	191275	"tyrosine-related protein 2"	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.430G>A	13.37:g.95121165C>T	ENSP00000366227:p.Ala144Thr	904	0	0					93919166	833	26.41	299	Q09GT4	Missense_Mutation	SNP	HMMPfam_Tyrosinase,PatternScan_TYROSINASE_1,PatternScan_TYROSINASE_2,superfamily_Di-copper_centre	p.A144T	ENST00000377028.5	37	c.430	CCDS9470.1	13	.	.	.	.	.	.	.	.	.	.	C	7.838	0.721290	0.15372	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99656	-6.31;-6.31	5.79	4.95	0.65309	Uncharacterised domain, di-copper centre (2);	0.208574	0.49916	D	0.000132	D	0.98757	0.9582	M	0.88241	2.94	0.44447	D	0.997372	P;P	0.36909	0.573;0.47	B;B	0.20577	0.028;0.03	D	0.98387	1.0561	9	.	.	.	-13.6118	10.625	0.45502	0.1338:0.7982:0.0:0.068	.	144;144	Q09GT4;P40126	.;TYRP2_HUMAN	T	144	ENSP00000366227:A144T;ENSP00000392762:A144T	.	A	-	1	0	DCT	93919166	0.998000	0.40836	0.198000	0.23420	0.047000	0.14425	3.793000	0.55484	1.445000	0.47624	0.655000	0.94253	GCC	-	superfamily_Di-copper_centre		0.567	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	protein_coding	OTTHUMT00000045461.3	C			93919166	-1	no_errors	NM_001922.1	genbank	human	validated	54_36p	missense	SNP	0.599	T	T	95121165	C	T	95121165	3	4	164	1	0	0	0	0	1	0	0	0	4304	768	27	1	1264	1	DCT	13	95121165	Missense_Mutation	SNP	C	TCGA-AB-2980-03A-01D-0739-09	66512910	95121165	20048713	6	1863											
DNMT3A	1788	genome.wustl.edu	37	2	25457243	25457243	+	Missense_Mutation	SNP	G	G	A	rs377577594		TCGA-AB-2981-03A-01D-0739-09	TCGA-AB-2981-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7212ba7b-f637-4f9f-b616-94109bfb8898	25cb572c-99a3-4fe6-8e7f-87ed37ab2d17	g.chr2:25457243G>A	ENST00000264709.3	-	23	2981	c.2644C>T	c.(2644-2646)Cgc>Tgc	p.R882C	DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659C|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882C|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693C|DNMT3A_ENST00000474887.1_5'Flank	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882C(93)|p.R882S(8)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGCCAAGCGGCTCATGTTG	0.597			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	101	Substitution - Missense(101)	haematopoietic_and_lymphoid_tissue(101)	2						G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	55	50	52		2644,2077,2644	5.7	1	2		52	4,8596		0,4,4296	no	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	180,180,180	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging	882/913,693/724,882/913	25457243	4,13002	2203	4300	6503	25310747	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2644C>T	2.37:g.25457243G>A	ENSP00000264709:p.Arg882Cys	731	20.07	185		10	52.38	11	25310747	257	50.48	263	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882C	ENST00000264709.3	37	c.2644	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224411	0.79576	0.0	4.65E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;P	0.65573	0.936;0.685	D	0.99425	1.0934	10	0.87932	D	0	-8.768	18.4404	0.90665	0.0:0.0:1.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	693;882;882;659	ENSP00000370122:R693C;ENSP00000324375:R882C;ENSP00000264709:R882C;ENSP00000384237:R659C	ENSP00000264709:R882C	R	-	1	0	DNMT3A	25310747	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.597	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	G	NM_022552		25310747	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	25457243	G	A	25457243	3	1	165	1	0	0	0	0	1	0	0	0	4676	1116	39	1	98	1	DNMT3A	2	25457243	Missense_Mutation	SNP	G	TCGA-AB-2981-03A-01D-0739-09		25457243	217742130	1	1864											
ZDHHC11	79844	genome.wustl.edu	37	5	850655	850655	+	Silent	SNP	C	C	T			TCGA-AB-2981-03A-01D-0739-09	TCGA-AB-2981-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7212ba7b-f637-4f9f-b616-94109bfb8898	25cb572c-99a3-4fe6-8e7f-87ed37ab2d17	g.chr5:850655C>T	ENST00000283441.8	-	1	446	c.63G>A	c.(61-63)aaG>aaA	p.K21K	ZDHHC11_ENST00000424784.2_Silent_p.K21K	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	21						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.K21K(2)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCAAGACCAGCTTTTCATTAT	0.602																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	5											94	95	94					5																	850655		2203	4300	6503	903655	SO:0001819	synonymous_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"Zinc fingers, DHHC-type"	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.63G>A	5.37:g.850655C>T		134	17.07	28					903655	92	52.33	101	Q6UWR9	Silent	SNP	HMMPfam_zf-DHHC	p.K21	ENST00000283441.8	37	c.63	CCDS3857.1	5																																																																																			-	NULL		0.602	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	protein_coding	OTTHUMT00000206681.3	C	NM_024786		903655	-1	no_errors	NM_024786.2	genbank	human	validated	54_36p	silent	SNP	0.002	T	T	850655	C	T	850655	2	4	165	1	0	0	0	0	0	0	0	1	17598	796	28	2		2	ZDHHC11	5	850655	Silent	SNP	C	TCGA-AB-2981-03A-01D-0739-09		850655	180064605	2	1865											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2981-03A-01D-0739-09	TCGA-AB-2981-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7212ba7b-f637-4f9f-b616-94109bfb8898	25cb572c-99a3-4fe6-8e7f-87ed37ab2d17	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	165	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2981-03A-01D-0739-09	169986892	170837547	10077713	3	1866											
FLT3	2322	genome.wustl.edu	37	13	28608311	28608312	+	In_Frame_Ins	INS	-	-	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA			TCGA-AB-2981-03A-01D-0739-09	TCGA-AB-2981-11A-01D-0739-09	-	-	-	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7212ba7b-f637-4f9f-b616-94109bfb8898	25cb572c-99a3-4fe6-8e7f-87ed37ab2d17	g.chr13:28608311_28608312insATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA	ENST00000241453.7	-	14	1825_1826	c.1744_1745insTGGCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAAT	c.(1744-1746)acc>aTGGCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAATcc	p.582_582T>MAGSSDNEYFYVDFREYES	FLT3_ENST00000380982.4_In_Frame_Ins_p.582_582T>MAGSSDNEYFYVDFREYES|FLT3_ENST00000537084.1_In_Frame_Ins_p.582_582T>MAGSSDNEYFYVDFREYES	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	582					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGGAGCCGGTCACCTGTACC	0.381			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13																																								27506312	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1744_1745insTGGCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAAT	13.37:g.28608311_28608312insATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA	ENSP00000241453:p.Thr582delinsMetAlaGlySerSerAspAsnGluTyrPheTyrValAspPheArgGluTyrGluSer								27506311				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.T582in_frame_insMAGSSDNEYFYVDFREYES	ENST00000241453.7	37	c.1745_1744	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506312	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.986:0.998	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA	28608312	-	ATTCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGGCCA	28608311	7	5	165	1	0	1	1	0	0	0	0	0	5942	1261	44	0	1280	0	FLT3	13	28608311	In_Frame_Ins	INS	-	TCGA-AB-2981-03A-01D-0739-09		28608311	86561567	4	1867											
SDCCAG1	9147	genome.wustl.edu	37	14	50262635	50262635	+	Silent	SNP	A	A	G			TCGA-AB-2981-03A-01D-0739-09	TCGA-AB-2981-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7212ba7b-f637-4f9f-b616-94109bfb8898	25cb572c-99a3-4fe6-8e7f-87ed37ab2d17	g.chr14:50262635A>G	ENST00000298310.5	-	26	2942	c.2493T>C	c.(2491-2493)agT>agC	p.S831S	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000382135.2_Silent_p.S31S|NEMF_ENST00000546046.1_Silent_p.S810S|NEMF_ENST00000545773.1_Silent_p.S789S			O60524	NEMF_HUMAN	nuclear export mediator factor	831					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.S831S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTCCTGAGTCACTTGGAAGTT	0.338																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	14											133	125	128					14																	50262635		2202	4300	6502	49332385	SO:0001819	synonymous_variant	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"serologically defined colon cancer antigen 1"	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2493T>C	14.37:g.50262635A>G		394	12.94	59		37	47.14	33	49332385	136	43.1	103	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Silent	SNP	HMMPfam_DUF814,HMMPfam_FbpA	p.S831	ENST00000298310.5	37	c.2493	CCDS9694.1	14																																																																																			-	NULL		0.338	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG1	protein_coding	OTTHUMT00000410798.1	A	NM_004713		49332385	-1	no_errors	NM_004713.3	genbank	human	validated	54_36p	silent	SNP	0.789	G	G	50262635	A	G	50262635	2	3	165	1	0	0	0	0	0	0	0	1	13957	156	6	3		3	SDCCAG1	14	50262635	Silent	SNP	A	TCGA-AB-2981-03A-01D-0739-09		50262635	57086905	5	1868											
FAM57B	83723	genome.wustl.edu	37	16	30036568	30036568	+	Missense_Mutation	SNP	C	C	T	rs367744777		TCGA-AB-2981-03A-01D-0739-09	TCGA-AB-2981-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	7212ba7b-f637-4f9f-b616-94109bfb8898	25cb572c-99a3-4fe6-8e7f-87ed37ab2d17	g.chr16:30036568C>T	ENST00000380495.4	-	5	1492	c.761G>A	c.(760-762)cGt>cAt	p.R254H	FAM57B_ENST00000564806.1_3'UTR|FAM57B_ENST00000279389.4_Missense_Mutation_p.R204H	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	254	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|negative regulation of fat cell differentiation (GO:0045599)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sphingosine N-acyltransferase activity (GO:0050291)	p.R254H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCAGGCCCCACGGCAGATGAG	0.756																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16						C	HIS/ARG	0,3878		0,0,1939	14	14	14		761	4.9	1	16		14	1,7615		0,1,3807	no	missense	FAM57B	NM_031478.4	29	0,1,5746	TT,TC,CC		0.0131,0.0,0.0087	probably-damaging	254/275	30036568	1,11493	1939	3808	5747	29944069	SO:0001583	missense	0			AF370365	CCDS10667.2	16p11.2	2013-02-19			ENSG00000149926	ENSG00000149926			25295	protein-coding gene	gene with protein product		615175				11230166, 23275342	Standard	NM_031478		Approved	DKFZP434I2117	uc002dvt.3	Q71RH2	OTTHUMG00000132105	ENST00000380495.4:c.761G>A	16.37:g.30036568C>T	ENSP00000369863:p.Arg254His	91	22.22	26					29944069	31	48.33	29	Q9H0J1	Missense_Mutation	SNP	HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724	p.R254H	ENST00000380495.4	37	c.761	CCDS10667.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.7|24.7	4.556900|4.556900	0.86231|0.86231	0.0|0.0	1.31E-4|1.31E-4	ENSG00000149926|ENSG00000149926	ENST00000380495|ENST00000279389	D|.	0.87103|.	-2.21|.	4.92|4.92	4.92|4.92	0.64577|0.64577	TRAM/LAG1/CLN8 homology domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73659|0.73659	0.3615|0.3615	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	T|T	0.75439|0.75439	-0.3317|-0.3317	10|5	0.87932|.	D|.	0|.	-9.1085|-9.1085	10.5465|10.5465	0.45062|0.45062	0.0:0.9088:0.0:0.0912|0.0:0.9088:0.0:0.0912	.|.	254|.	Q71RH2|.	FA57B_HUMAN|.	H|M	254|221	ENSP00000369863:R254H|.	ENSP00000369863:R254H|.	R|V	-|-	2|1	0|0	FAM57B|FAM57B	29944069|29944069	0.905000|0.905000	0.30787|0.30787	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	1.884000|1.884000	0.39668|0.39668	2.255000|2.255000	0.74692|0.74692	0.655000|0.655000	0.94253|0.94253	CGT|GTG	-	HMMPfam_TRAM_LAG1_CLN8,HMMSmart_SM00724		0.756	FAM57B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM57B	protein_coding	OTTHUMT00000255142.2	C	NM_031478		29944069	-1	no_errors	NM_031478.4	genbank	human	validated	54_36p	missense	SNP	0.997	T	T	30036568	C	T	30036568	3	4	165	1	0	0	0	0	1	0	0	0	5589	536	19	1	67	1	FAM57B	16	30036568	Missense_Mutation	SNP	C	TCGA-AB-2981-03A-01D-0739-09		30036568	60318185	6	1869											
SUSD5	26032	genome.wustl.edu	37	3	33194315	33194315	+	Silent	SNP	G	G	A			TCGA-AB-2982-03A-01D-0739-09	TCGA-AB-2982-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c	fd834a25-f907-4646-8a91-2a1d97db9aaf	g.chr3:33194315G>A	ENST00000309558.3	-	5	2226	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	603					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)	p.H603H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CAGAGCTCTTGTGCTGGCACT	0.597																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											63	68	66					3																	33194315		2203	4294	6497	33169319	SO:0001819	synonymous_variant	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1809C>T	3.37:g.33194315G>A		466	7.17	36					33169319	800	37.08	472		Silent	SNP	HMMSmart_CCP,HMMPfam_Xlink,HMMSmart_LINK,PatternScan_LINK_1,superfamily_Complement_control_module,superfamily_C-type_lectin_fold	p.H603	ENST00000309558.3	37	c.1809	CCDS46787.1	3																																																																																			-	NULL		0.597	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	protein_coding	OTTHUMT00000341902.1	G	XM_171054		33169319	-1	no_errors	NM_015551.1	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	33194315	G	A	33194315	2	1	166	1	0	0	0	0	0	0	0	1	15408	1368	48	2		2	SUSD5	3	33194315	Silent	SNP	G	TCGA-AB-2982-03A-01D-0739-09		33194315	164828115	1	1870											
FGL2	10875	genome.wustl.edu	37	7	76825955	76825955	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2982-03A-01D-0739-09	TCGA-AB-2982-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8370b0ee-a7e7-4fbb-a04e-b31c1d1c7b3c	fd834a25-f907-4646-8a91-2a1d97db9aaf	g.chr7:76825955C>A	ENST00000248598.5	-	2	993	c.961G>T	c.(961-963)Gtg>Ttg	p.V321L	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	321	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)		p.V321L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCATTAGCCACATAAAACTGA	0.353																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											160	156	157					7																	76825955		2203	4300	6503	76663891	SO:0001583	missense	0			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"Fibrinogen C domain containing"	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.961G>T	7.37:g.76825955C>A	ENSP00000248598:p.Val321Leu	168	9.19	17		1	75	3	76663891	663	35.19	360		Missense_Mutation	SNP	HMMPfam_Fibrinogen_C,HMMSmart_SM00186,PatternScan_FIBRIN_AG_C_DOMAIN,superfamily_Fibrinogen C-terminal domain-like	p.V321L	ENST00000248598.5	37	c.961	CCDS5591.1	7	.	.	.	.	.	.	.	.	.	.	C	21.4	4.137654	0.77775	.	.	ENSG00000127951	ENST00000248598	T	0.80653	-1.4	6.03	6.03	0.97812	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.86606	0.5973	L	0.53561	1.675	0.80722	D	1	P	0.52061	0.95	P	0.62298	0.9	T	0.81393	-0.0953	10	0.20519	T	0.43	.	20.1519	0.98089	0.0:1.0:0.0:0.0	.	321	Q14314	FGL2_HUMAN	L	321	ENSP00000248598:V321L	ENSP00000248598:V321L	V	-	1	0	FGL2	76663891	1.000000	0.71417	0.994000	0.49952	0.555000	0.35460	5.757000	0.68766	2.861000	0.98227	0.655000	0.94253	GTG	-	HMMPfam_Fibrinogen_C,HMMSmart_SM00186,superfamily_Fibrinogen C-terminal domain-like		0.353	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL2	protein_coding	OTTHUMT00000253176.1	C	NM_006682		76663891	-1	no_errors	NM_006682.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	76825955	C	A	76825955	3	1	166	1	0	0	0	0	1	0	0	0	5873	478	17	4	362	4	FGL2	7	76825955	Missense_Mutation	SNP	C	TCGA-AB-2982-03A-01D-0739-09		76825955	82312708	2	1871											
CHIT1	1118	genome.wustl.edu	37	1	203186123	203186123	+	Missense_Mutation	SNP	C	C	T	rs202003206		TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr1:203186123C>T	ENST00000367229.1	-	11	1329	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	CHIT1_ENST00000255427.3_Missense_Mutation_p.R413Q|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000535569.1_Missense_Mutation_p.R423Q	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	432	Chitin-binding type-2. {ECO:0000255|PROSITE-ProRule:PRU00144}.				chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.R432Q(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGACCGTTCCCGAGGATTGGG	0.602											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0	0	5008	,	,		18789	0.001		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											98	101	100					1																	203186123		2203	4300	6503	201452746	SO:0001583	missense	0			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1295G>A	1.37:g.203186123C>T	ENSP00000356198:p.Arg432Gln	542	2.16	12	2135	0	0	0	201452746	461	44.62	373	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_18,PatternScan_CHITINASE_18,HMMPfam_CBM_14,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins,HMMSmart_SM00636,superfamily_(Trans)glycosidases,superfamily_Chitinase insertion domain	p.R432Q	ENST00000367229.1	37	c.1295	CCDS1436.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	2.092	-0.408161	0.04832	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.29655	1.56;1.56;1.56	4.95	-9.9	0.00461	Chitin binding domain (5);	3.388700	0.00868	N	0.001985	T	0.09686	0.0238	N	0.03983	-0.305	0.09310	N	1	B;B;B	0.13145	0.001;0.007;0.002	B;B;B	0.06405	0.001;0.001;0.002	T	0.14924	-1.0455	10	0.13470	T	0.59	-9.276	3.8643	0.09010	0.192:0.5452:0.0924:0.1703	.	403;423;432	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	Q	432;413;423	ENSP00000356198:R432Q;ENSP00000255427:R413Q;ENSP00000438078:R423Q	ENSP00000255427:R413Q	R	-	2	0	CHIT1	201452746	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.461000	0.00463	-2.215000	0.00733	-0.355000	0.07637	CGG	-	HMMPfam_CBM_14,HMMSmart_SM00494,superfamily_Invertebrate chitin-binding proteins		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	protein_coding	OTTHUMT00000100275.2	C	NM_003465		201452746	-1	no_errors	NM_003465.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	203186123	C	T	203186123	3	4	167	1	0	0	0	0	1	0	0	0	3346	652	23	1	109	1	CHIT1	1	203186123	Missense_Mutation	SNP	C	TCGA-AB-2983-03A-01D-0739-09		203186123	46064498	1	1872											
STRN	6801	genome.wustl.edu	37	2	37143244	37143244	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr2:37143244A>T	ENST00000263918.4	-	3	397	c.389T>A	c.(388-390)aTg>aAg	p.M130K	STRN_ENST00000379213.2_Missense_Mutation_p.M118K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	130					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)	p.M130K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGGAGGCTTCATATCTCCCTG	0.313																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											72	65	67					2																	37143244		2203	4300	6503	36996748	SO:0001583	missense	0			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"WD repeat domain containing"	11424	protein-coding gene	gene with protein product		614765	"striatin, calmodulin-binding protein"			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.389T>A	2.37:g.37143244A>T	ENSP00000263918:p.Met130Lys	706	1.12	8		6	14.29	1	36996748	708	43.23	540	Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_Striatin,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.M130K	ENST00000263918.4	37	c.389	CCDS1784.1	2	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942519	0.34283	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.63580	-0.05;-0.04	5.65	5.65	0.86999	Striatin, N-terminal (1);	0.154030	0.64402	D	0.000001	T	0.32763	0.0840	N	0.02158	-0.66	0.54753	D	0.999983	B;B	0.20988	0.05;0.009	B;B	0.18561	0.022;0.017	T	0.39742	-0.9599	10	0.05620	T	0.96	-17.9997	15.1403	0.72607	1.0:0.0:0.0:0.0	.	118;130	O43815-2;O43815	.;STRN_HUMAN	K	130;105;118	ENSP00000263918:M130K;ENSP00000368513:M118K	ENSP00000263918:M130K	M	-	2	0	STRN	36996748	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.526000	0.90588	2.279000	0.76181	0.402000	0.26972	ATG	-	HMMPfam_Striatin		0.313	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	protein_coding	OTTHUMT00000218568.1	A			36996748	-1	no_errors	NM_003162.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	37143244	A	T	37143244	3	4	167	1	0	0	0	0	1	0	0	0	15328	217	8	5	2017	5	STRN	2	37143244	Missense_Mutation	SNP	A	TCGA-AB-2983-03A-01D-0739-09		37143244	206056129	2	1873											
MAP2	4133	genome.wustl.edu	37	2	210559334	210559334	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr2:210559334G>A	ENST00000360351.4	+	7	2946	c.2440G>A	c.(2440-2442)Ggc>Agc	p.G814S	MAP2_ENST00000447185.1_Missense_Mutation_p.G810S|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	814					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.G814S(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGATCTGGCAGGCACAAGGTC	0.473																																					Pancreas(27;423 979 28787 29963)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											131	131	131					2																	210559334		2203	4300	6503	210267579	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"A-kinase anchor proteins"	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2440G>A	2.37:g.210559334G>A	ENSP00000353508:p.Gly814Ser	1054	1.86	20					210267579	764	40.42	519	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	HMMPfam_Tubulin-binding,PatternScan_TAU_MAP,HMMPfam_MAP2_projctn,HMMPfam_RII_binding_1	p.G814S	ENST00000360351.4	37	c.2440	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686463	0.88639	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.30714	1.52;1.52	5.7	5.7	0.88788	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000009	T	0.56441	0.1985	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56559	-0.7959	10	0.87932	D	0	-13.9281	19.8212	0.96595	0.0:0.0:1.0:0.0	.	810;814	P11137-3;P11137	.;MAP2_HUMAN	S	814;810	ENSP00000353508:G814S;ENSP00000392164:G810S	ENSP00000353508:G814S	G	+	1	0	MAP2	210267579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.229000	0.95273	2.694000	0.91930	0.650000	0.86243	GGC	-	HMMPfam_MAP2_projctn		0.473	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210267579	1	no_errors	NM_002374.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	210559334	G	A	210559334	3	1	167	1	0	0	0	0	1	0	0	0	9235	1000	35	2	2454	2	MAP2	2	210559334	Missense_Mutation	SNP	G	TCGA-AB-2983-03A-01D-0739-09	173416090	210559334	32640039	3	1874											
NAT8L	339983	genome.wustl.edu	37	4	2065507	2065507	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr4:2065507G>A	ENST00000423729.2	+	3	562	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	NAT8L_ENST00000331662.3_Missense_Mutation_p.V20M	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	188	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				metabolic process (GO:0008152)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)	aspartate N-acetyltransferase activity (GO:0017188)	p.V20M(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGGGTGGCCGTGCTGGATGG	0.667																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											63	55	58					4																	2065507		2203	4299	6502	2035305	SO:0001583	missense	0			AK094797	CCDS3359.1, CCDS3359.2	4p16.3	2011-11-16	2008-09-24		ENSG00000185818	ENSG00000185818			26742	protein-coding gene	gene with protein product		610647	"N-acetyltransferase 8-like"			11397015	Standard	NM_178557		Approved	FLJ37478, Hcml3	uc003geq.2	Q8N9F0	OTTHUMG00000121151	ENST00000423729.2:c.562G>A	4.37:g.2065507G>A	ENSP00000413064:p.Val188Met	68	5.56	4					2035305	57	47.71	52		Missense_Mutation	SNP	HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat)	p.V20M	ENST00000423729.2	37	c.58	CCDS3359.2	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542498	0.85917	.	.	ENSG00000185818	ENST00000423729;ENST00000331662	T;T	0.32515	1.45;1.46	5.54	5.54	0.83059	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.084010	0.47852	U	0.000217	T	0.47192	0.1432	L	0.33753	1.03	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.33189	-0.9878	10	0.44086	T	0.13	-0.0025	19.0909	0.93227	0.0:0.0:1.0:0.0	.	188	Q8N9F0	NAT8L_HUMAN	M	188;20	ENSP00000413064:V188M;ENSP00000328464:V20M	ENSP00000328464:V20M	V	+	1	0	NAT8L	2035305	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.553000	0.67287	2.604000	0.88044	0.450000	0.29827	GTG	-	HMMPfam_Acetyltransf_1,superfamily_Acyl-CoA N-acyltransferases (Nat)		0.667	NAT8L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8L	protein_coding		G	NM_178557		2035305	1	no_errors	NM_178557.2	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	2065507	G	A	2065507	3	1	167	1	0	0	0	0	1	0	0	0	10181	1145	40	1	572	1	NAT8L	4	2065507	Missense_Mutation	SNP	G	TCGA-AB-2983-03A-01D-0739-09		2065507	189088769	4	1875											
PCDHB11	56125	genome.wustl.edu	37	5	140580470	140580470	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr5:140580470T>C	ENST00000354757.3	+	1	1123	c.1123T>C	c.(1123-1125)Tct>Cct	p.S375P	PCDHB11_ENST00000536699.1_Missense_Mutation_p.S10P	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S375P(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATATAGACTCTGGGGACAA	0.428																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											124	122	123					5																	140580470		2203	4300	6503	140560654	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"Cadherins / Protocadherins : Clustered"	8682	other	protocadherin	"cadherin ME2"	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1123T>C	5.37:g.140580470T>C	ENSP00000346802:p.Ser375Pro	692	1.42	10					140560654	520	42.05	378	B4DSF7|Q2M223	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.S375P	ENST00000354757.3	37	c.1123	CCDS4253.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|T	16.41|16.41	3.115611|3.115611	0.56505|0.56505	.|.	.|.	ENSG00000197479|ENSG00000197479	ENST00000536825|ENST00000536699;ENST00000354757	.|T;T	.|0.53640	.|0.61;4.59	2.52|2.52	1.23|1.23	0.21249|0.21249	.|Cadherin (4);Cadherin-like (1);	.|.	.|.	.|.	.|.	.|T	.|0.75817	.|0.3901	H|H	0.97962|0.97962	4.115|4.115	0.23712|0.23712	N|N	0.997041|0.997041	.|P	.|0.39862	.|0.692	.|P	.|0.58210	.|0.835	.|T	.|0.65957	.|-0.6042	.|9	.|0.87932	.|D	.|0	.|.	8.1517|8.1517	0.31145|0.31145	0.0:0.0:0.2048:0.7952|0.0:0.0:0.2048:0.7952	.|.	.|375	.|Q9Y5F2	.|PCDBB_HUMAN	.|P	-1|10;375	.|ENSP00000440344:S10P;ENSP00000346802:S375P	.|ENSP00000346802:S375P	.|S	+|+	.|1	.|0	PCDHB11|PCDHB11	140560654|140560654	0.056000|0.056000	0.20664|0.20664	0.298000|0.298000	0.25002|0.25002	0.824000|0.824000	0.46624|0.46624	0.981000|0.981000	0.29526|0.29526	0.187000|0.187000	0.20147|0.20147	0.254000|0.254000	0.18369|0.18369	.|TCT	-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.428	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	protein_coding	OTTHUMT00000251813.1	T	NM_018931		140560654	1	no_errors	NM_018931.2	genbank	human	reviewed	54_36p	missense	SNP	0.965	C	C	140580470	T	C	140580470	3	2	167	1	0	0	0	0	1	0	0	0	11536	1551	54	3	1125	3	PCDHB11	5	140580470	Missense_Mutation	SNP	T	TCGA-AB-2983-03A-01D-0739-09		140580470	40334790	5	1876											
SEMA3A	10371	genome.wustl.edu	37	7	83636712	83636712	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr7:83636712C>G	ENST00000265362.4	-	10	1411	c.1097G>C	c.(1096-1098)tGg>tCg	p.W366S	SEMA3A_ENST00000436949.1_Missense_Mutation_p.W366S	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	366	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.W366S(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATAAGGCACCCATTGATAGTT	0.433																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											147	128	135					7																	83636712		2203	4300	6503	83474648	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"Semaphorins", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	10723	protein-coding gene	gene with protein product	"sema III"	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1097G>C	7.37:g.83636712C>G	ENSP00000265362:p.Trp366Ser	842	2.99	26					83474648	571	45.11	470		Missense_Mutation	SNP	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMSmart_IG,HMMSmart_PSI,HMMPfam_ig,superfamily_Plexin-like_fold,superfamily_SSF48726	p.W366S	ENST00000265362.4	37	c.1097	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	C	18.95	3.730772	0.69074	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.26223	1.75;1.75	4.4	4.4	0.53042	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.90309	3.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71407	-0.4602	10	0.87932	D	0	.	17.3506	0.87322	0.0:1.0:0.0:0.0	.	366	Q14563	SEM3A_HUMAN	S	366	ENSP00000265362:W366S;ENSP00000415260:W366S	ENSP00000265362:W366S	W	-	2	0	SEMA3A	83474648	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.050000	0.71063	2.154000	0.67381	0.561000	0.74099	TGG	-	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema		0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	protein_coding	OTTHUMT00000253355.2	C	NM_006080		83474648	-1	no_errors	NM_006080.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	83636712	C	G	83636712	3	3	167	1	0	0	0	0	1	0	0	0	14024	595	21	4	1250	4	SEMA3A	7	83636712	Missense_Mutation	SNP	C	TCGA-AB-2983-03A-01D-0739-09		83636712	75501951	6	1877											
RPL27A	6157	genome.wustl.edu	37	11	8705620	8705620	+	Silent	SNP	C	C	T			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr11:8705620C>T	ENST00000314138.6	+	3	538	c.135C>T	c.(133-135)ttC>ttT	p.F45F	RPL27A_ENST00000530022.1_5'UTR|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000524496.1_5'UTR|RPL27A_ENST00000530913.1_5'Flank|RPL27A_ENST00000526562.1_5'UTR|RPL27A_ENST00000531978.1_Silent_p.F45F|SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000532359.1_Silent_p.F45F	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a	45					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F45F(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGATCAACTTCGACAAATAGT	0.537																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	11											125	117	120					11																	8705620		2201	4296	6497	8662196	SO:0001819	synonymous_variant	0			U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"L ribosomal proteins"	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.135C>T	11.37:g.8705620C>T		684	2.84	20		1	98.21	55	8662196	126	84.95	711	B2R4B3	Silent	SNP	HMMPfam_L15,PatternScan_RIBOSOMAL_L15,superfamily_Ribosomal proteins L15p and L18e	p.F45	ENST00000314138.6	37	c.135	CCDS7790.1	11	.	.	.	.	.	.	.	.	.	.	C	9.332	1.060727	0.19987	.	.	ENSG00000166441	ENST00000525981	.	.	.	5.56	-7.11	0.01542	.	.	.	.	.	T	0.58366	0.2117	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61811	-0.6986	4	.	.	.	-6.286	12.4122	0.55473	0.084:0.2588:0.0:0.6571	.	.	.	.	L	40	.	.	S	+	2	0	RPL27A	8662196	0.005000	0.15991	0.464000	0.27143	0.851000	0.48451	-1.276000	0.02815	-1.757000	0.01316	-0.817000	0.03123	TCG	-	superfamily_Ribosomal proteins L15p and L18e		0.537	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL27A	protein_coding	OTTHUMT00000386506.1	C	NM_000990		8662196	1	no_errors	NM_000990.4	genbank	human	reviewed	54_36p	silent	SNP	0.790	T	T	8705620	C	T	8705620	2	4	167	1	0	0	0	0	0	0	0	1	13576	883	31	1		1	RPL27A	11	8705620	Silent	SNP	C	TCGA-AB-2983-03A-01D-0739-09		8705620	126300896	7	1878											
COL2A1	1280	genome.wustl.edu	37	12	48380136	48380136	+	Missense_Mutation	SNP	C	C	A	rs121912880		TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr12:48380136C>A	ENST00000380518.3	-	23	1674	c.1510G>T	c.(1510-1512)Ggt>Tgt	p.G504C	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G435C	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	504	Triple-helical region.		G -> C (in SEMDSTWK). {ECO:0000269|PubMed:7550321}.		axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G435C(1)|p.G504C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCAGGGGGACCGATGGGCCCA	0.637																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	12	GRCh37	CM052182|CX952212	COL2A1	M|X	rs121912880						29	28	29					12																	48380136		2191	4286	6477	46666403	SO:0001583	missense	0			X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"Collagens"	2200	protein-coding gene	gene with protein product		120140	"collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)", "arthroophthalmopathy, progressive (Stickler syndrome)"	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1510G>T	12.37:g.48380136C>A	ENSP00000369889:p.Gly504Cys	317	2.76	9					46666403	222	43.94	174	A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_Collagen	p.G504C	ENST00000380518.3	37	c.1510	CCDS41778.1	12	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510546	0.64522	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99637	-6.29;-6.29	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	M	0.93106	3.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97427	1.0013	10	0.87932	D	0	.	16.9549	0.86256	0.0:1.0:0.0:0.0	.	435;504	P02458-1;P02458	.;CO2A1_HUMAN	C	504;435;435	ENSP00000369889:G504C;ENSP00000338213:G435C	ENSP00000338213:G435C	G	-	1	0	COL2A1	46666403	1.000000	0.71417	0.734000	0.30879	0.316000	0.28119	5.887000	0.69751	2.537000	0.85549	0.561000	0.74099	GGT	-	HMMPfam_Collagen		0.637	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL2A1	protein_coding	OTTHUMT00000313810.2	C	NM_001844		46666403	-1	no_errors	NM_001844.4	genbank	human	reviewed	54_36p	missense	SNP	0.990	A	A	48380136	C	A	48380136	3	1	167	1	0	0	0	0	1	0	0	0	3687	652	23	4	3081	4	COL2A1	12	48380136	Missense_Mutation	SNP	C	TCGA-AB-2983-03A-01D-0739-09		48380136	85471759	8	1879											
SMARCC2	6601	genome.wustl.edu	37	12	56581079	56581079	+	Silent	SNP	A	A	G	rs375920566		TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr12:56581079A>G	ENST00000267064.4	-	2	209	c.123T>C	c.(121-123)gcT>gcC	p.A41A	SMARCC2_ENST00000550164.1_Silent_p.A41A|SMARCC2_ENST00000394023.3_Silent_p.A41A|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000347471.4_Silent_p.A41A	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	41					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.A41A(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGGTGGTTCAGCTTGTATAT	0.438																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	12						A	,,	2,4404	4.2+/-10.8	0,2,2201	129	132	131		123,123,123	-0.6	1	12		131	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SMARCC2	NM_001130420.1,NM_003075.3,NM_139067.2	,,	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	,,	41/1153,41/1215,41/1131	56581079	2,13004	2203	4300	6503	54867346	SO:0001819	synonymous_variant	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.123T>C	12.37:g.56581079A>G		456	3.18	15		62	38	38	54867346	454	42.04	330	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	HMMSmart_SM00298,HMMSmart_SM00717,superfamily_BRCT domain,HMMPfam_SWIRM,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding	p.A41	ENST00000267064.4	37	c.123	CCDS8907.1	12																																																																																			-	NULL		0.438	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	protein_coding	OTTHUMT00000408370.1	A			54867346	-1	no_errors	NM_003075.1	genbank	human	reviewed	54_36p	silent	SNP	0.915	G	G	56581079	A	G	56581079	2	3	167	1	0	0	0	0	0	0	0	1	14776	175	7	3		3	SMARCC2	12	56581079	Silent	SNP	A	TCGA-AB-2983-03A-01D-0739-09	8200943	56581079	77270816	9	1880											
ELF1	1997	genome.wustl.edu	37	13	41508066	41508066	+	Missense_Mutation	SNP	A	A	G	rs540284464		TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr13:41508066A>G	ENST00000239882.3	-	9	1669	c.1355T>C	c.(1354-1356)aTa>aCa	p.I452T	ELF1_ENST00000442101.1_Missense_Mutation_p.I428T|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	452					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I452T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TGTGCTGGCTATAACTGTTGT	0.448																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											197	180	186					13																	41508066		2203	4300	6503	40406066	SO:0001583	missense	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.1355T>C	13.37:g.41508066A>G	ENSP00000239882:p.Ile452Thr	1404	2.02	29		121	47.41	110	40406066	942	43.19	717	B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2,superfamily_SSF46785	p.I452T	ENST00000239882.3	37	c.1355	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	A	14.84	2.655987	0.47467	.	.	ENSG00000120690	ENST00000442101;ENST00000379498;ENST00000239882	T;T	0.48522	0.81;0.81	5.44	5.44	0.79542	.	0.106792	0.64402	D	0.000011	T	0.50377	0.1612	L	0.34521	1.04	0.44024	D	0.996746	P;D	0.56035	0.945;0.974	P;P	0.52514	0.625;0.701	T	0.54918	-0.8221	10	0.87932	D	0	.	15.5037	0.75722	1.0:0.0:0.0:0.0	.	428;452	E9PDQ9;P32519	.;ELF1_HUMAN	T	428;194;452	ENSP00000405580:I428T;ENSP00000239882:I452T	ENSP00000239882:I452T	I	-	2	0	ELF1	40406066	1.000000	0.71417	0.942000	0.38095	0.977000	0.68977	7.165000	0.77544	2.053000	0.61076	0.533000	0.62120	ATA	-	NULL		0.448	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	protein_coding	OTTHUMT00000044654.3	A	NM_172373		40406066	-1	no_errors	NM_172373.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	41508066	A	G	41508066	3	3	167	1	0	0	0	0	1	0	0	0	5053	449	16	3	508	3	ELF1	13	41508066	Missense_Mutation	SNP	A	TCGA-AB-2983-03A-01D-0739-09		41508066	73661812	10	1881											
METTL3	56339	genome.wustl.edu	37	14	21979283	21979283	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr14:21979283T>C	ENST00000298717.4	-	1	234	c.83A>G	c.(82-84)cAg>cGg	p.Q28R	METTL3_ENST00000545319.1_5'UTR|METTL3_ENST00000538267.1_Missense_Mutation_p.Q28R	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	28					circadian rhythm (GO:0007623)|gene expression (GO:0010467)|mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|RNA methylation (GO:0001510)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)	p.Q28R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CCCCGAGTCCTGCTTCCGCCT	0.647																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											43	40	41					14																	21979283		2203	4300	6503	21049123	SO:0001583	missense	0			AF014837	CCDS32044.1	14q11.1	2012-06-12			ENSG00000165819	ENSG00000165819	2.1.1.62		17563	protein-coding gene	gene with protein product	"N6-adenosine-methyltransferase 70 kDa subunit"	612472					Standard	XM_006720206		Approved	Spo8, M6A, MT-A70	uc001wbc.3	Q86U44	OTTHUMG00000168825	ENST00000298717.4:c.83A>G	14.37:g.21979283T>C	ENSP00000298717:p.Gln28Arg	414	1.89	8		21	53.33	24	21049123	239	34.16	124	O14736|Q86V05|Q9HB32	Missense_Mutation	SNP	HMMPfam_MT-A70	p.Q28R	ENST00000298717.4	37	c.83	CCDS32044.1	14	.	.	.	.	.	.	.	.	.	.	T	20.7	4.028060	0.75390	.	.	ENSG00000165819	ENST00000298717;ENST00000538267;ENST00000440691	T;T	0.30981	1.51;1.51	5.3	5.3	0.74995	.	0.198578	0.35378	N	0.003244	T	0.20129	0.0484	N	0.14661	0.345	0.40464	D	0.980278	P;P;B	0.46512	0.531;0.879;0.213	B;B;B	0.39660	0.201;0.306;0.049	T	0.05954	-1.0854	10	0.51188	T	0.08	-34.6537	14.369	0.66826	0.0:0.0:0.0:1.0	.	28;28;28	B4E2F6;B4DTN4;Q86U44	.;.;MTA70_HUMAN	R	28	ENSP00000298717:Q28R;ENSP00000442316:Q28R	ENSP00000298717:Q28R	Q	-	2	0	METTL3	21049123	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.427000	0.59888	2.226000	0.72624	0.533000	0.62120	CAG	-	NULL		0.647	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL3	protein_coding	OTTHUMT00000401227.1	T	NM_019852		21049123	-1	no_errors	NM_019852.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	21979283	T	C	21979283	3	2	167	1	0	0	0	0	1	0	0	0	9501	1580	55	3	1703	3	METTL3	14	21979283	Missense_Mutation	SNP	T	TCGA-AB-2983-03A-01D-0739-09		21979283	85370257	11	1882											
DYNC1H1	1778	genome.wustl.edu	37	14	102453065	102453065	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr14:102453065C>T	ENST00000360184.4	+	8	2667	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	835	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.R835C(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATATGTACAGCGCTTAGCAGA	0.483																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											104	95	98					14																	102453065		2203	4300	6503	101522818	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"Cytoplasmic dyneins"	2961	protein-coding gene	gene with protein product		600112	"dynein, cytoplasmic, heavy polypeptide 1"	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2503C>T	14.37:g.102453065C>T	ENSP00000348965:p.Arg835Cys	1623	1.69	28		28	41.67	20	101522818	1212	35.44	666	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	HMMSmart_AAA,HMMPfam_Dynein_heavy,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_SSF52540	p.R835C	ENST00000360184.4	37	c.2503	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237846	0.79800	.	.	ENSG00000197102	ENST00000360184	T	0.31769	1.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.52693	0.1750	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	P	0.56216	0.794	T	0.55173	-0.8182	10	0.66056	D	0.02	.	19.7987	0.96497	0.0:1.0:0.0:0.0	.	835	Q14204	DYHC1_HUMAN	C	835	ENSP00000348965:R835C	ENSP00000348965:R835C	R	+	1	0	DYNC1H1	101522818	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.771000	0.68881	2.767000	0.95098	0.655000	0.94253	CGC	-	NULL		0.483	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376		101522818	1	no_errors	NM_001376.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	102453065	C	T	102453065	3	4	167	1	0	0	0	0	1	0	0	0	4841	768	27	1	2533	1	DYNC1H1	14	102453065	Missense_Mutation	SNP	C	TCGA-AB-2983-03A-01D-0739-09	80473782	102453065	4896475	12	1883											
JMJD5	79831	genome.wustl.edu	37	16	27221818	27221818	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr16:27221818T>G	ENST00000286096.4	+	2	547	c.374T>G	c.(373-375)aTg>aGg	p.M125R	KDM8_ENST00000441782.2_Missense_Mutation_p.M163R|KDM8_ENST00000568965.1_Missense_Mutation_p.M125R|KDM8_ENST00000380948.2_Missense_Mutation_p.M125R|CTD-3203P2.1_ENST00000567108.1_RNA	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	125					G2/M transition of mitotic cell cycle (GO:0000086)|histone H3-K36 demethylation (GO:0070544)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (H3-K36 specific) (GO:0051864)|metal ion binding (GO:0046872)	p.M125R(1)|p.M163R(1)									GTCTGTGACATGGGCCTGCTG	0.647																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	16											27	30	29					16																	27221818		2197	4300	6497	27129319	SO:0001583	missense	0			AK023860	CCDS10627.1, CCDS45448.1	16p12.1	2012-03-28	2012-03-28	2012-03-28	ENSG00000155666	ENSG00000155666		"Chromatin-modifying enzymes / K-demethylases"	25840	protein-coding gene	gene with protein product		611917	"jumonji domain containing 5"	JMJD5		20457893	Standard	NM_024773		Approved	FLJ13798	uc010vcn.1	Q8N371	OTTHUMG00000131677	ENST00000286096.4:c.374T>G	16.37:g.27221818T>G	ENSP00000286096:p.Met125Arg	382	2.05	8		5	16.67	1	27129319	251	41.3	178	B4DLU9|Q6VAK5|Q9H8B1	Missense_Mutation	SNP	HMMSmart_SM00558,superfamily_Clavaminate synthase-like	p.M125R	ENST00000286096.4	37	c.374	CCDS10627.1	16	.	.	.	.	.	.	.	.	.	.	T	17.54	3.415590	0.62511	.	.	ENSG00000155666	ENST00000380948;ENST00000286096;ENST00000441782	T;T	0.25579	1.83;1.79	5.62	5.62	0.85841	.	0.034361	0.85682	D	0.000000	T	0.50086	0.1595	M	0.82323	2.585	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.966	P;P;P	0.61201	0.885;0.885;0.543	T	0.50931	-0.8769	10	0.31617	T	0.26	-38.3461	14.6624	0.68882	0.0:0.0:0.0:1.0	.	163;125;125	Q8N371-3;Q8N371-2;Q8N371	.;.;KDM8_HUMAN	R	125;125;163	ENSP00000286096:M125R;ENSP00000398410:M163R	ENSP00000286096:M125R	M	+	2	0	JMJD5	27129319	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.593000	0.82686	2.137000	0.66172	0.459000	0.35465	ATG	-	NULL		0.647	KDM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD5	protein_coding	OTTHUMT00000254580.3	T	NM_024773		27129319	1	no_errors	NM_024773.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	27221818	T	G	27221818	3	3	167	1	0	0	0	0	1	0	0	0	7952	1464	51	5	494	5	JMJD5	16	27221818	Missense_Mutation	SNP	T	TCGA-AB-2983-03A-01D-0739-09		27221818	63132935	13	1884											
NANOS2	339345	genome.wustl.edu	37	19	46417670	46417670	+	Silent	SNP	C	C	T			TCGA-AB-2983-03A-01D-0739-09	TCGA-AB-2983-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	14026827-734d-42a2-8803-03f598fe541e	707d05c9-0df6-4ed0-91a2-5cb30b3b42b8	g.chr19:46417670C>T	ENST00000341294.2	-	1	366	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	94					germ-line stem cell maintenance (GO:0030718)|mRNA catabolic process (GO:0006402)|multicellular organismal development (GO:0007275)|negative regulation of meiosis (GO:0045835)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	mRNA binding (GO:0003729)|zinc ion binding (GO:0008270)	p.R94R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		ACACGTAGTGCCTCAGGATGG	0.642																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	19											72	63	66					19																	46417670		2203	4300	6503	51109510	SO:0001819	synonymous_variant	0			BC042883	CCDS33056.1	19q13.32	2003-12-01				ENSG00000188425			23292	protein-coding gene	gene with protein product		608228				12947200, 12690449	Standard	NM_001029861		Approved	NOS2	uc002pdu.3	P60321		ENST00000341294.2:c.282G>A	19.37:g.46417670C>T		812	2.75	23					51109510	339	46.37	294	Q17R30|Q4G0P8	Silent	SNP	HMMPfam_zf-nanos	p.R94	ENST00000341294.2	37	c.282	CCDS33056.1	19																																																																																			-	HMMPfam_zf-nanos		0.642	NANOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANOS2	protein_coding	OTTHUMT00000461685.1	C			51109510	-1	no_errors	NM_001029861.2	genbank	human	validated	54_36p	silent	SNP	0.998	T	T	46417670	C	T	46417670	2	4	167	1	0	0	0	0	0	0	0	1	10152	738	26	2		2	NANOS2	19	46417670	Silent	SNP	C	TCGA-AB-2983-03A-01D-0739-09		46417670	12711313	14	1885											
CDC42	998	genome.wustl.edu	37	1	22405060	22405060	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr1:22405060C>T	ENST00000344548.3	+	3	340	c.89C>T	c.(88-90)tCg>tTg	p.S30L	CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000315554.8_Missense_Mutation_p.S30L|CDC42_ENST00000421089.2_Silent_p.I13I|CDC42_ENST00000400259.1_Missense_Mutation_p.S30L	NM_001039802.1	NP_001034891.1	P60953	CDC42_HUMAN	cell division cycle 42	30					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cellular protein localization (GO:0034613)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell-cell adhesion (GO:0090136)|epithelial-mesenchymal cell signaling (GO:0060684)|establishment of Golgi localization (GO:0051683)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|filopodium assembly (GO:0046847)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|heart contraction (GO:0060047)|innate immune response (GO:0045087)|keratinization (GO:0031424)|keratinocyte development (GO:0003334)|macrophage differentiation (GO:0030225)|multicellular organism growth (GO:0035264)|muscle cell differentiation (GO:0042692)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of gene expression (GO:0010629)|negative regulation of protein complex assembly (GO:0031333)|neuron fate determination (GO:0048664)|nuclear migration (GO:0007097)|nucleus localization (GO:0051647)|organelle transport along microtubule (GO:0072384)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of JNK cascade (GO:0046330)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of synapse structural plasticity (GO:0051835)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of filopodium assembly (GO:0051489)|regulation of mitosis (GO:0007088)|regulation of protein catabolic process (GO:0042176)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein kinase activity (GO:0045859)|regulation of protein stability (GO:0031647)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|sprouting angiogenesis (GO:0002040)|submandibular salivary gland formation (GO:0060661)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	apical part of cell (GO:0045177)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|leading edge membrane (GO:0031256)|membrane (GO:0016020)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|spindle midzone (GO:0051233)	apolipoprotein A-I receptor binding (GO:0034191)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|thioesterase binding (GO:0031996)	p.S30L(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		AAATTTCCATCGGAATATGTA	0.358																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	1											107	101	103					1																	22405060		2203	4300	6503	22277647	SO:0001583	missense	0			BC018266	CCDS221.1, CCDS222.1	1p36.1	2013-01-17	2013-01-17		ENSG00000070831	ENSG00000070831			1736	protein-coding gene	gene with protein product	"GTP binding protein, 25kDa"	116952	"cell division cycle 42 (GTP-binding protein, 25kD)", "cell division cycle 42 (GTP binding protein, 25kDa)"			2124704, 2122236	Standard	NM_001039802		Approved	G25K, CDC42Hs	uc001bfr.3	P60953	OTTHUMG00000002753	ENST00000344548.3:c.89C>T	1.37:g.22405060C>T	ENSP00000341072:p.Ser30Leu	856	0	0		40	67.21	82	22277647	612	46.55	533	P21181|P25763|Q7L8R5|Q9UDI2	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.S30L	ENST00000344548.3	37	c.89	CCDS221.1	1	.	.	.	.	.	.	.	.	.	.	c	16.56	3.157867	0.57368	.	.	ENSG00000070831	ENST00000400259;ENST00000344548;ENST00000315554;ENST00000411827	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.78	4.78	0.61160	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.73281	0.3567	L	0.50919	1.6	0.80722	D	1	P;B;B	0.46656	0.882;0.025;0.193	B;B;B	0.39379	0.298;0.029;0.078	T	0.79147	-0.1923	10	0.87932	D	0	.	16.3743	0.83379	0.0:1.0:0.0:0.0	.	30;30;30	B4E1U9;P60953;P60953-1	.;CDC42_HUMAN;.	L	30	ENSP00000383118:S30L;ENSP00000341072:S30L;ENSP00000314458:S30L;ENSP00000398327:S30L	ENSP00000314458:S30L	S	+	2	0	CDC42	22277647	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	7.212000	0.77941	2.217000	0.71921	0.557000	0.71058	TCG	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.358	CDC42-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDC42	protein_coding	OTTHUMT00000007787.1	C	NM_001791		22277647	1	no_errors	NM_001039802.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	22405060	C	T	22405060	3	4	168	1	0	0	0	0	1	0	0	0	3071	893	31	1	91	1	CDC42	1	22405060	Missense_Mutation	SNP	C	TCGA-AB-2984-03A-01D-0739-09		22405060	226845561	1	1886											
SRRM1	10250	genome.wustl.edu	37	1	24995947	24995947	+	Silent	SNP	T	T	A			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr1:24995947T>A	ENST00000323848.9	+	14	2388	c.2073T>A	c.(2071-2073)ccT>ccA	p.P691P	SRRM1_ENST00000447431.2_Silent_p.P703P|snoU13_ENST00000459464.1_RNA|SRRM1_ENST00000374389.4_Silent_p.P700P|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	691	Arg-rich.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.P691P(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CTCGAGCTCCTCAGACCTCCT	0.592																																					Ovarian(68;897 1494 3282 17478)	dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	1											66	62	63					1																	24995947		2203	4300	6503	24868534	SO:0001819	synonymous_variant	0			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"Ser/Arg-related nuclear matrix protein", "plenty of prolines 101-like"	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.2073T>A	1.37:g.24995947T>A		626	0	0		64	49.61	63	24868534	507	45.44	423	O60585|Q5VVN4	Silent	SNP	HMMPfam_PWI,HMMSmart_SM00311,superfamily_PWI domain	p.P691	ENST00000323848.9	37	c.2073	CCDS255.1	1																																																																																			-	NULL		0.592	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	protein_coding	OTTHUMT00000009292.2	T	NM_005839		24868534	1	no_errors	NM_005839.3	genbank	human	validated	54_36p	silent	SNP	0.988	A	A	24995947	T	A	24995947	2	1	168	1	0	0	0	0	0	0	0	1	15167	1538	54	5		5	SRRM1	1	24995947	Silent	SNP	T	TCGA-AB-2984-03A-01D-0739-09	2590887	24995947	224254674	2	1887											
NRAS	4893	genome.wustl.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	T	rs121913237		TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr1:115258747C>T	ENST00000369535.4	-	2	288	c.35G>A	c.(34-36)gGt>gAt	p.G12D	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	1						C	ASP/GLY	0,4406		0,0,2203	206	184	191	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	35	5.6	1	1	dbSNP_133	191	1,8599	1.2+/-3.3	0,1,4299	no	missense	NRAS	NM_002524.4	94	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	12/190	115258747	1,13005	2203	4300	6503	115060270	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.35G>A	1.37:g.115258747C>T	ENSP00000358548:p.Gly12Asp	1095	0.09	1		21	29.03	9	115060270	815	37.97	500	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12D	ENST00000369535.4	37	c.35	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.524414	0.96431	0.0	1.16E-4	ENSG00000213281	ENST00000369535	T	0.78595	-1.19	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85252	0.5654	M	0.92604	3.325	0.80722	D	1	B	0.32467	0.372	B	0.42827	0.399	D	0.86173	0.1601	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	D	12	ENSP00000358548:G12D	ENSP00000358548:G12D	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060270	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	115258747	C	T	115258747	3	4	168	1	0	0	0	0	1	0	0	0	10640	507	18	2	550	2	NRAS	1	115258747	Missense_Mutation	SNP	C	TCGA-AB-2984-03A-01D-0739-09	90262800	115258747	133991874	3	1888											
CEP170	9859	genome.wustl.edu	37	1	243362463	243362464	+	In_Frame_Ins	INS	-	-	ATA			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	-	-	-	ATA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr1:243362463_243362464insATA	ENST00000366542.1	-	7	580_581	c.529_530insTAT	c.(529-531)tat>tTATat	p.176_177insL	CEP170_ENST00000366544.1_In_Frame_Ins_p.176_177insL|CEP170_ENST00000366543.1_In_Frame_Ins_p.176_177insL	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	176						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)		p.L176_Y177insL(2)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CGGCTGCCCATATAATGGAGTA	0.431																																						dbGAP											2	Insertion - In frame(2)	haematopoietic_and_lymphoid_tissue(2)	1																																								241429087	SO:0001652	inframe_insertion	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"KARP 1 binding protein", "XRCC5 binding protein"	613023	"KIAA0470"	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.530_532dupTAT	1.37:g.243362464_243362466dupATA	ENSP00000355500:p.Leu176_Leu176dup	385	0	0		11	0	0	241429086	550	25.07	184	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	In_Frame_Ins	INS	HMMPfam_FHA,HMMSmart_SM00240,superfamily_SMAD/FHA domain	p.177in_frame_insL	ENST00000366542.1	37	c.530_529	CCDS44339.1	1																																																																																			-	NULL		0.431	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	protein_coding	OTTHUMT00000096178.2	-	NM_014812		241429087	-1	no_errors	NM_014812.1	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	ATA	ATA	243362464	-	ATA	243362463	7	5	168	1	0	1	1	0	0	0	0	0	3250	1406	49	0	4310	0	CEP170	1	243362463	In_Frame_Ins	INS	-	TCGA-AB-2984-03A-01D-0739-09	128103716	243362463	5888158	4	1889											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	858	0	0		11	35.29	6	208821358	592	49.01	570	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	168	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2984-03A-01D-0739-09		209113113	34086260	5	1890											
IMPG2	50939	genome.wustl.edu	37	3	100962674	100962674	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr3:100962674C>T	ENST00000193391.7	-	13	2688	c.2501G>A	c.(2500-2502)gGt>gAt	p.G834D		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	834					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.G834D(2)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ATCCTGTACACCCATAATTAC	0.463																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	3											140	138	139					3																	100962674		2203	4300	6503	102445364	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2501G>A	3.37:g.100962674C>T	ENSP00000193391:p.Gly834Asp	1097	0	0					102445364	898	48.33	840	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	HMMPfam_SEA,HMMSmart_SM00200,PatternScan_EGF_2,superfamily_EGF/Laminin,superfamily_SEA domain	p.G834D	ENST00000193391.7	37	c.2501	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114822	0.20795	.	.	ENSG00000081148	ENST00000193391	T	0.22336	1.96	5.55	2.25	0.28309	.	0.482479	0.20636	N	0.088490	T	0.11707	0.0285	L	0.27053	0.805	0.09310	N	0.999992	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.31833	-0.9929	10	0.15499	T	0.54	-2.5124	6.7737	0.23609	0.0:0.5844:0.1385:0.2772	.	834;834	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	D	834	ENSP00000193391:G834D	ENSP00000193391:G834D	G	-	2	0	IMPG2	102445364	0.094000	0.21725	0.714000	0.30535	0.986000	0.74619	1.107000	0.31110	0.674000	0.31244	0.462000	0.41574	GGT	-	NULL		0.463	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	protein_coding	OTTHUMT00000353256.3	C			102445364	-1	no_errors	NM_016247.2	genbank	human	validated	54_36p	missense	SNP	0.018	T	T	100962674	C	T	100962674	3	4	168	1	0	0	0	0	1	0	0	0	7729	507	18	2	1252	2	IMPG2	3	100962674	Missense_Mutation	SNP	C	TCGA-AB-2984-03A-01D-0739-09		100962674	97059756	6	1891											
PCDHA6	56142	genome.wustl.edu	37	5	140209869	140209869	+	Silent	SNP	G	G	A	rs536478075		TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr5:140209869G>A	ENST00000529310.1	+	1	2307	c.2193G>A	c.(2191-2193)gcG>gcA	p.A731A	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	731					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A731A(5)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGGGCGCGTGCACGGCGG	0.687																																						dbGAP											5	Substitution - coding silent(5)	haematopoietic_and_lymphoid_tissue(3)|lung(2)	5											46	45	45					5																	140209869		2203	4298	6501	140190053	SO:0001819	synonymous_variant	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"Cadherins / Protocadherins : Clustered"	8672	other	complex locus constituent	"KIAA0345-like 8"	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2193G>A	5.37:g.140209869G>A		65	0	0					140190053	89	45.78	76	O75283|Q9NRT8	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.A731	ENST00000529310.1	37	c.2193	CCDS47281.1	5																																																																																			-	NULL		0.687	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	protein_coding	OTTHUMT00000372829.3	G	NM_018909		140190053	1	no_errors	NM_018909.2	genbank	human	reviewed	54_36p	silent	SNP	0.423	A	A	140209869	G	A	140209869	2	1	168	1	0	0	0	0	0	0	0	1	11528	1132	40	1		1	PCDHA6	5	140209869	Silent	SNP	G	TCGA-AB-2984-03A-01D-0739-09		140209869	40705391	7	1892											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	168	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2984-03A-01D-0739-09	30627678	170837547	10077713	8	1893											
ANKRD26	22852	genome.wustl.edu	37	10	27317853	27317853	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr10:27317853C>G	ENST00000376087.4	-	27	4065	c.3900G>C	c.(3898-3900)aaG>aaC	p.K1300N	ANKRD26_ENST00000436985.2_Missense_Mutation_p.K1316N|ANKRD26_ENST00000376070.3_Missense_Mutation_p.K857N	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1299					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)		p.K1300N(2)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TAACTTTTAACTTGGCATTAT	0.289																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	10											105	96	99					10																	27317853		1790	4056	5846	27357859	SO:0001583	missense	0			AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"Ankyrin repeat domain containing"	29186	protein-coding gene	gene with protein product		610855	"thrombocytopenia 2 (autosomal dominant)"	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.3900G>C	10.37:g.27317853C>G	ENSP00000365255:p.Lys1300Asn	404	0	0		0	100	7	27357859	339	49.63	335	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_ANK,superfamily_ANK	p.K1300N	ENST00000376087.4	37	c.3900	CCDS41499.1	10	.	.	.	.	.	.	.	.	.	.	C	3.570	-0.087877	0.07097	.	.	ENSG00000107890	ENST00000376070;ENST00000376087;ENST00000436985	T;T;T	0.77229	-1.08;-1.08;-1.08	4.69	3.51	0.40186	.	0.512997	0.16736	N	0.201628	T	0.69369	0.3103	L	0.40543	1.245	0.32247	N	0.571982	P;P;B	0.43701	0.815;0.718;0.01	P;B;B	0.45681	0.49;0.296;0.005	T	0.71965	-0.4433	10	0.39692	T	0.17	.	4.8039	0.13310	0.0:0.7261:0.0:0.2739	.	1300;1299;1316	Q9UPS8-3;Q9UPS8;A1L497	.;ANR26_HUMAN;.	N	857;1300;1316	ENSP00000365238:K857N;ENSP00000365255:K1300N;ENSP00000405112:K1316N	ENSP00000365238:K857N	K	-	3	2	ANKRD26	27357859	0.999000	0.42202	0.747000	0.31113	0.040000	0.13550	0.984000	0.29565	2.321000	0.78463	0.609000	0.83330	AAG	-	NULL		0.289	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD26	protein_coding	OTTHUMT00000047296.1	C			27357859	-1	no_errors	NM_014915.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	27317853	C	G	27317853	3	3	168	1	0	0	0	0	1	0	0	0	654	564	20	4	1264	4	ANKRD26	10	27317853	Missense_Mutation	SNP	C	TCGA-AB-2984-03A-01D-0739-09		27317853	108216894	9	1894											
LTA4H	4048	genome.wustl.edu	37	12	96421313	96421313	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr12:96421313A>G	ENST00000228740.2	-	3	461	c.320T>C	c.(319-321)tTt>tCt	p.F107S	RP11-256L6.2_ENST00000547346.1_RNA|LTA4H_ENST00000413268.2_Missense_Mutation_p.F83S|LTA4H_ENST00000552789.1_Missense_Mutation_p.F83S	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	107					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F107S(2)		haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	AGAGGTCTCAAAAGAAATTTC	0.348																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	12											56	59	58					12																	96421313		2203	4300	6503	94945444	SO:0001583	missense	0			BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.320T>C	12.37:g.96421313A>G	ENSP00000228740:p.Phe107Ser	632	0	0		4	73.33	11	94945444	500	44.65	405	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	HMMPfam_Peptidase_M1,HMMPfam_Leuk-A4-hydro_C,superfamily_ARM repeat,superfamily_Metalloproteases ("zincins") catalytic domain,superfamily_Leukotriene A4 hydrolase N-terminal domain	p.F107S	ENST00000228740.2	37	c.320	CCDS9059.1	12	.	.	.	.	.	.	.	.	.	.	A	10.54	1.379154	0.24944	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.03635	3.86;3.86;3.86	5.79	3.3	0.37823	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.305862	0.38058	N	0.001827	T	0.02970	0.0088	N	0.16790	0.44	0.45806	D	0.998682	P;P;B	0.41643	0.758;0.552;0.202	B;B;B	0.43783	0.431;0.2;0.205	T	0.55661	-0.8106	10	0.62326	D	0.03	-24.7051	3.7846	0.08695	0.6573:0.1139:0.0732:0.1556	.	83;83;107	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	S	107;83;83	ENSP00000228740:F107S;ENSP00000449958:F83S;ENSP00000395051:F83S	ENSP00000228740:F107S	F	-	2	0	LTA4H	94945444	1.000000	0.71417	0.979000	0.43373	0.028000	0.11728	3.262000	0.51538	1.001000	0.39076	-0.316000	0.08728	TTT	-	HMMPfam_Peptidase_M1,superfamily_Leukotriene A4 hydrolase N-terminal domain		0.348	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTA4H	protein_coding	OTTHUMT00000408655.1	A	NM_000895		94945444	-1	no_errors	NM_000895.1	genbank	human	provisional	54_36p	missense	SNP	0.946	G	G	96421313	A	G	96421313	3	3	168	1	0	0	0	0	1	0	0	0	9069	14	1	3	1583	3	LTA4H	12	96421313	Missense_Mutation	SNP	A	TCGA-AB-2984-03A-01D-0739-09		96421313	37430582	10	1895											
FREM2	341640	genome.wustl.edu	37	13	39422657	39422657	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr13:39422657C>G	ENST00000280481.7	+	8	6445	c.6229C>G	c.(6229-6231)Cag>Gag	p.Q2077E	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2077	Calx-beta 3.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q2077E(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTCAACATGCAGCCTGTTCG	0.453																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	13											166	160	162					13																	39422657		2203	4300	6503	38320657	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.6229C>G	13.37:g.39422657C>G	ENSP00000280481:p.Gln2077Glu	845	0	0					38320657	584	48	540	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	HMMPfam_Calx-beta,HMMSmart_SM00237	p.Q2077E	ENST00000280481.7	37	c.6229	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508988	0.85282	.	.	ENSG00000150893	ENST00000280481	T	0.28454	1.61	5.54	5.54	0.83059	Na-Ca exchanger/integrin-beta4 (2);	0.056645	0.64402	D	0.000001	T	0.56396	0.1982	M	0.83012	2.62	0.80722	D	1	P;D	0.53619	0.888;0.961	P;P	0.56648	0.624;0.803	T	0.61603	-0.7029	10	0.66056	D	0.02	.	19.483	0.95017	0.0:1.0:0.0:0.0	.	2077;2077	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	E	2077	ENSP00000280481:Q2077E	ENSP00000280481:Q2077E	Q	+	1	0	FREM2	38320657	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.794000	0.85869	2.629000	0.89072	0.655000	0.94253	CAG	-	HMMPfam_Calx-beta,HMMSmart_SM00237		0.453	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	C	NM_207361		38320657	1	no_errors	NM_207361.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	39422657	C	G	39422657	3	3	168	1	0	0	0	0	1	0	0	0	6045	711	25	4	6259	4	FREM2	13	39422657	Missense_Mutation	SNP	C	TCGA-AB-2984-03A-01D-0739-09		39422657	75747221	11	1896											
C19orf62	29086	genome.wustl.edu	37	19	17386609	17386609	+	Splice_Site	SNP	G	G	T			TCGA-AB-2984-03A-01D-0739-09	TCGA-AB-2984-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3c90e4b9-81cd-4033-b233-593c37fbac1f	7e5f93a8-6056-47d1-9c1b-e8628c5699e6	g.chr19:17386609G>T	ENST00000359435.4	+	6	737		c.e6-1		CTD-2278I10.6_ENST00000596542.1_Splice_Site|BABAM1_ENST00000595632.1_Intron|BABAM1_ENST00000448635.2_Intron|BABAM1_ENST00000598188.1_Splice_Site|BABAM1_ENST00000447614.2_Intron|BABAM1_ENST00000601043.1_Splice_Site	NM_001033549.1	NP_001028721.1	Q9NWV8	BABA1_HUMAN	BRISC and BRCA1 A complex member 1						chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|protein K63-linked deubiquitination (GO:0070536)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRISC complex (GO:0070552)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						ACCCCCACCAGATCTGGAAGG	0.542																																						dbGAP											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	19											94	93	93					19																	17386609		1898	4125	6023	17247609	SO:0001630	splice_region_variant	0			AK000578	CCDS46012.1, CCDS74310.1	19p13.11	2011-02-21	2011-02-21	2011-01-31	ENSG00000105393	ENSG00000105393			25008	protein-coding gene	gene with protein product	"Mediator of Rap80 Interactions and Targeting 40 kD", "new component of the BRCA1 A complex"	612766	"chromosome 19 open reading frame 62"	C19orf62		11042152	Standard	NM_001288756		Approved	FLJ20571, HSPC142, NBA1, MERIT40	uc002nfv.3	Q9NWV8		ENST00000359435.4:c.545-1G>T	19.37:g.17386609G>T		756	0	0		7	43.75	7	17247609	332	38.86	211	A8MQT0|B4DRY9|B4DVR1|Q6FIA0|Q9P018	Splice_Site	SNP	-	e5-1	ENST00000359435.4	37	c.545-1	CCDS46012.1	19	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480621	0.63849	.	.	ENSG00000105393	ENST00000359435	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6882	0.69065	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BABAM1	17247609	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	7.201000	0.77847	2.321000	0.78463	0.505000	0.49811	.	-	-		0.542	BABAM1-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	C19orf62	protein_coding	OTTHUMT00000463471.1	G	NM_014173	Intron	17247609	1	no_errors	NM_001033549.1	genbank	human	validated	54_36p	splice_site	SNP	1.000	T	T	17386609	G	T	17386609	5	4	168	1	0	0	0	0	0	0	1	0	1944	956	33	4	562	4	C19orf62	19	17386609	Splice_Site	SNP	G	TCGA-AB-2984-03A-01D-0739-09		17386609	41742374	12	1897											
NRAS	4893	genome.wustl.edu	37	1	115258748	115258748	+	Missense_Mutation	SNP	C	C	A	rs121913250		TCGA-AB-2985-03A-01D-0739-09	TCGA-AB-2985-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1e7d69a3-f69c-4d3d-98cd-965347b3150c	139677d5-471a-40b7-89ef-807034101853	g.chr1:115258748C>A	ENST00000369535.4	-	2	287	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12S(133)|p.G12C(81)|p.G12R(18)|p.G12N(2)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAACACCACCTGCTCCAACC	0.493	G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												dbGAP		Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"L, E"	236	Substitution - Missense(236)	haematopoietic_and_lymphoid_tissue(149)|skin(29)|upper_aerodigestive_tract(21)|large_intestine(13)|thyroid(8)|prostate(6)|lung(4)|soft_tissue(2)|urinary_tract(1)|NS(1)|kidney(1)|pancreas(1)	1											203	181	189					1																	115258748		2203	4300	6503	115060271	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.34G>T	1.37:g.115258748C>A	ENSP00000358548:p.Gly12Cys	1357	9.11	136		17	32	8	115060271	736	28.75	301	Q14971|Q15104|Q15282	Missense_Mutation	SNP	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G12C	ENST00000369535.4	37	c.34	CCDS877.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.208516	0.95069	.	.	ENSG00000213281	ENST00000369535	T	0.79141	-1.24	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	D	0.85826	0.5787	M	0.89904	3.07	0.80722	D	1	P	0.39480	0.675	P	0.49276	0.605	D	0.87171	0.2221	10	0.72032	D	0.01	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	C	12	ENSP00000358548:G12C	ENSP00000358548:G12C	G	-	1	0	NRAS	115060271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT	-	HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAS	protein_coding	OTTHUMT00000033395.2	C	NM_002524		115060271	-1	no_errors	NM_002524.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	115258748	C	A	115258748	3	1	169	1	0	0	0	0	1	0	0	0	10640	681	24	4	551	4	NRAS	1	115258748	Missense_Mutation	SNP	C	TCGA-AB-2985-03A-01D-0739-09		115258748	133991873	1	1898											
BMPER	168667	genome.wustl.edu	37	7	34182946	34182946	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2985-03A-01D-0739-09	TCGA-AB-2985-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1e7d69a3-f69c-4d3d-98cd-965347b3150c	139677d5-471a-40b7-89ef-807034101853	g.chr7:34182946A>C	ENST00000297161.2	+	15	2224	c.1850A>C	c.(1849-1851)cAc>cCc	p.H617P	BMPER_ENST00000426693.1_Missense_Mutation_p.H617P	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	617					blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)		p.H617P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATCAAAGTCCACTGGGAGCCT	0.478																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											92	94	93					7																	34182946		2203	4300	6503	34149471	SO:0001583	missense	0				CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"crossveinless-2"	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1850A>C	7.37:g.34182946A>C	ENSP00000297161:p.His617Pro	810	9.5	85					34149471	340	43.24	259	A8K1P8|Q8TF36	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_VWD,superfamily_Cysrich_TIL,HMMPfam_C8,HMMPfam_TIL	p.H617P	ENST00000297161.2	37	c.1850	CCDS5442.1	7	.	.	.	.	.	.	.	.	.	.	A	12.03	1.816938	0.32145	.	.	ENSG00000164619	ENST00000297161;ENST00000426693	T;T	0.76186	-1.0;-1.0	5.67	0.1	0.14510	Uncharacterised domain, cysteine-rich (2);	0.408998	0.31188	N	0.008087	T	0.50548	0.1622	N	0.11892	0.195	0.41187	D	0.986279	B	0.06786	0.001	B	0.06405	0.002	T	0.20806	-1.0264	10	0.27082	T	0.32	.	8.6686	0.34137	0.5663:0.3689:0.0649:0.0	.	617	Q8N8U9	BMPER_HUMAN	P	617	ENSP00000297161:H617P;ENSP00000393950:H617P	ENSP00000297161:H617P	H	+	2	0	BMPER	34149471	0.715000	0.27946	0.996000	0.52242	0.990000	0.78478	1.502000	0.35704	0.132000	0.18615	-0.334000	0.08254	CAC	-	HMMPfam_C8		0.478	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPER	protein_coding	OTTHUMT00000250570.2	A	NM_133468		34149471	1	no_errors	NM_133468.3	genbank	human	validated	54_36p	missense	SNP	0.936	C	C	34182946	A	C	34182946	3	2	169	1	0	0	0	0	1	0	0	0	1468	159	6	5	1904	5	BMPER	7	34182946	Missense_Mutation	SNP	A	TCGA-AB-2985-03A-01D-0739-09		34182946	124955717	2	1899											
UGCG	7357	genome.wustl.edu	37	9	114676927	114676927	+	Silent	SNP	T	T	C	rs370538898		TCGA-AB-2985-03A-01D-0739-09	TCGA-AB-2985-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1e7d69a3-f69c-4d3d-98cd-965347b3150c	139677d5-471a-40b7-89ef-807034101853	g.chr9:114676927T>C	ENST00000374279.3	+	2	591	c.141T>C	c.(139-141)taT>taC	p.Y47Y	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	47					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)	p.Y47Y(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	AACAGCCTTATAGCAAGCTCC	0.363																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	9						T		1,4405	2.1+/-5.4	0,1,2202	100	102	101		141	-1	1	9		101	0,8600		0,0,4300	no	coding-synonymous	UGCG	NM_003358.1		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		47/395	114676927	1,13005	2203	4300	6503	113716748	SO:0001819	synonymous_variant	0			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"Glycosyltransferase family 2 domain containing"	12524	protein-coding gene	gene with protein product	"glucosylceramide synthase", "ceramide glucosyltransferase"	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.141T>C	9.37:g.114676927T>C		429	6.54	30					113716748	189	38.64	119	Q5T258	Silent	SNP	HMMPfam_Glycos_transf_2,superfamily_SSF53448	p.Y47	ENST00000374279.3	37	c.141	CCDS6782.1	9																																																																																			-	NULL		0.363	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGCG	protein_coding	OTTHUMT00000053661.1	T	NM_003358		113716748	1	no_errors	NM_003358.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	C	C	114676927	T	C	114676927	2	2	169	1	0	0	0	0	0	0	0	1	16936	1413	49	3		3	UGCG	9	114676927	Silent	SNP	T	TCGA-AB-2985-03A-01D-0739-09		114676927	26536504	3	1900											
HKDC1	80201	genome.wustl.edu	37	10	71017130	71017130	+	Silent	SNP	C	C	A	rs200520567		TCGA-AB-2985-03A-01D-0739-09	TCGA-AB-2985-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1e7d69a3-f69c-4d3d-98cd-965347b3150c	139677d5-471a-40b7-89ef-807034101853	g.chr10:71017130C>A	ENST00000354624.5	+	14	2113	c.1980C>A	c.(1978-1980)acC>acA	p.T660T	HKDC1_ENST00000395086.2_Silent_p.T660T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	660	Hexokinase type-1 2.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)	p.T660T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGTGGGGACCATGATGACCT	0.433																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											253	213	227					10																	71017130		2203	4300	6503	70687136	SO:0001819	synonymous_variant	0				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1980C>A	10.37:g.71017130C>A		1027	12.43	146		3	0	0	70687136	338	45.93	288	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Silent	SNP	HMMPfam_Hexokinase_1,HMMPfam_Hexokinase_2,PatternScan_HEXOKINASES,superfamily_Actin-like ATPase domain	p.T660	ENST00000354624.5	37	c.1980	CCDS7288.1	10																																																																																			-	HMMPfam_Hexokinase_1,superfamily_Actin-like ATPase domain		0.433	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HKDC1	protein_coding	OTTHUMT00000048389.1	C	NM_025130		70687136	1	no_errors	NM_025130.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	71017130	C	A	71017130	2	1	169	1	0	0	0	0	0	0	0	1	7193	581	21	4		4	HKDC1	10	71017130	Silent	SNP	C	TCGA-AB-2985-03A-01D-0739-09		71017130	64517617	4	1901											
C10orf76	79591	genome.wustl.edu	37	10	103735023	103735023	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2985-03A-01D-0739-09	TCGA-AB-2985-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1e7d69a3-f69c-4d3d-98cd-965347b3150c	139677d5-471a-40b7-89ef-807034101853	g.chr10:103735023A>T	ENST00000370033.4	-	20	1560	c.1441T>A	c.(1441-1443)Tac>Aac	p.Y481N		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	481						integral component of membrane (GO:0016021)		p.Y481N(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TTCTTCTGGTAGCAGAGCAGT	0.458																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											89	92	91					10																	103735023		1911	4117	6028	103725013	SO:0001583	missense	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1441T>A	10.37:g.103735023A>T	ENSP00000359050:p.Tyr481Asn	1183	1.17	14		55	8.33	5	103725013	764	12.27	107	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	HMMPfam_DUF1741	p.Y481N	ENST00000370033.4	37	c.1441	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	A	27.0	4.793923	0.90453	.	.	ENSG00000120029	ENST00000370033;ENST00000431271	.	.	.	5.49	5.49	0.81192	Domain of unknown function DUF1741 (1);	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.82637	-0.0359	9	0.72032	D	0.01	-10.9716	14.5494	0.68054	1.0:0.0:0.0:0.0	.	481	Q5T2E6	CJ076_HUMAN	N	481;56	.	ENSP00000359050:Y481N	Y	-	1	0	C10orf76	103725013	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.697000	0.91307	2.085000	0.62840	0.402000	0.26972	TAC	-	HMMPfam_DUF1741		0.458	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	protein_coding	OTTHUMT00000050007.1	A	NM_024541		103725013	-1	no_errors	NM_024541.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	103735023	A	T	103735023	3	4	169	1	0	0	0	0	1	0	0	0	1616	420	15	5	656	5	C10orf76	10	103735023	Missense_Mutation	SNP	A	TCGA-AB-2985-03A-01D-0739-09	32717893	103735023	31799724	5	1902											
GLRA1	2741	genome.wustl.edu	37	5	151304094	151304094	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr5:151304094G>A	ENST00000455880.2	-	1	303	c.17C>T	c.(16-18)aCt>aTt	p.T6I	GLRA1_ENST00000274576.4_Missense_Mutation_p.T6I|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_5'UTR			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	6					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)	p.T6I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAGTCGAAGAGTATTGAAGCT	0.438																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											250	218	229					5																	151304094		2203	4300	6503	151284287	SO:0001583	missense	0				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"Ligand-gated ion channels / Glycine receptors"	4326	protein-coding gene	gene with protein product	"startle disease/hyperekplexia", "stiff person syndrome"	138491	"glycine receptor, alpha 1 (startle disease/hyperekplexia)"	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.17C>T	5.37:g.151304094G>A	ENSP00000411593:p.Thr6Ile	1322	5.43	76					151284287	852	41.68	609	B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL	p.T6I	ENST00000455880.2	37	c.17	CCDS54942.1	5	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586711	0.28268	.	.	ENSG00000145888	ENST00000274576;ENST00000455880	T;T	0.71579	-0.43;-0.58	5.23	5.23	0.72850	.	0.229367	0.39274	N	0.001412	T	0.57784	0.2077	N	0.19112	0.55	0.80722	D	1	B;B	0.20780	0.028;0.048	B;B	0.18871	0.01;0.023	T	0.53151	-0.8479	10	0.31617	T	0.26	.	16.9956	0.86367	0.0:0.0:1.0:0.0	.	6;6	P23415;P23415-2	GLRA1_HUMAN;.	I	6	ENSP00000274576:T6I;ENSP00000411593:T6I	ENSP00000274576:T6I	T	-	2	0	GLRA1	151284287	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.036000	0.70948	2.451000	0.82905	0.563000	0.77884	ACT	-	NULL		0.438	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA1	protein_coding	OTTHUMT00000373959.1	G			151284287	-1	no_errors	NM_000171.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	151304094	G	A	151304094	3	1	170	1	0	0	0	0	1	0	0	0	6454	1029	36	2	1392	2	GLRA1	5	151304094	Missense_Mutation	SNP	G	TCGA-AB-2986-03A-01D-0739-09		151304094	29611166	1	1903											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CCTG			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	-	-	-	CCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr5:170837547_170837548insCCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insCCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CCTG	CCTG	170837548	-	CCTG	170837547	7	5	170	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2986-03A-01D-0739-09	19533453	170837547	10077713	2	1904											
POU6F2	11281	genome.wustl.edu	37	7	39379315	39379315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr7:39379315C>T	ENST00000403058.1	+	6	740	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	POU6F2_ENST00000559001.1_Nonsense_Mutation_p.Q188*|POU6F2_ENST00000518318.2_Nonsense_Mutation_p.Q196*|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q196*(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gcagcagcagcagcCTCCCCC	0.662																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	7											16	18	18					7																	39379315		2179	4271	6450	39345840	SO:0001587	stop_gained	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"Homeoboxes / POU class"	21694	protein-coding gene	gene with protein product	"Retina-derived POU-domain factor-1"	609062	"POU domain, class 6, transcription factor 2"			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.586C>T	7.37:g.39379315C>T	ENSP00000384004:p.Gln196*	415	3.03	13					39345840	223	45.39	187	A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Nonsense_Mutation	SNP	HMMPfam_Pou,HMMSmart_SM00352,PatternScan_POU_1,PatternScan_POU_2,HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains	p.Q196*	ENST00000403058.1	37	c.586	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491805	0.84962	.	.	ENSG00000106536	ENST00000403058;ENST00000518318	.	.	.	4.39	3.49	0.39957	.	0.611244	0.14344	U	0.325552	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	13.761	0.62966	0.0:0.8441:0.1558:0.0	.	.	.	.	X	196	.	ENSP00000384004:Q196X	Q	+	1	0	POU6F2	39345840	0.111000	0.22076	0.002000	0.10522	0.951000	0.60555	2.680000	0.46918	0.795000	0.33922	0.557000	0.71058	CAG	-	NULL		0.662	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	protein_coding	OTTHUMT00000320146.3	C	NM_007252		39345840	1	no_errors	NM_007252.2	genbank	human	validated	54_36p	nonsense	SNP	0.001	T	T	39379315	C	T	39379315	4	4	170	1	0	0	0	0	0	1	0	0	12285	711	25	2	604	2	POU6F2	7	39379315	Nonsense_Mutation	SNP	C	TCGA-AB-2986-03A-01D-0739-09		39379315	119759348	3	1905											
RAD21	5885	genome.wustl.edu	37	8	117869560	117869560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr8:117869560C>A	ENST00000297338.2	-	6	921	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	212					apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|protein localization to chromatin (GO:0071168)|reciprocal meiotic recombination (GO:0007131)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.E212*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TATTGATCTTCATATTCTAAA	0.343																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	8											163	165	164					8																	117869560		2203	4300	6503	117938741	SO:0001587	stop_gained	0			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754			9811	protein-coding gene	gene with protein product	"sister chromatid cohesion 1"	606462	"RAD21 (S. pombe) homolog"			8812457	Standard	NM_006265		Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.634G>T	8.37:g.117869560C>A	ENSP00000297338:p.Glu212*	788	2.48	20		46	2.13	1	117938741	590	41.09	413	A8K0E0|Q15001|Q99568	Nonsense_Mutation	SNP	HMMPfam_Rad21_Rec8,HMMPfam_Rad21_Rec8_N	p.E212*	ENST00000297338.2	37	c.634	CCDS6321.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.666071	0.96745	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	.	.	.	5.48	5.48	0.80851	.	0.059023	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	0.001	19.717	0.96124	0.0:1.0:0.0:0.0	.	.	.	.	X	212	.	ENSP00000297338:E212X	E	-	1	0	RAD21	117938741	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.242000	0.78210	2.734000	0.93682	0.563000	0.77884	GAA	-	NULL		0.343	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD21	protein_coding	OTTHUMT00000381184.1	C	NM_006265		117938741	-1	no_errors	NM_006265.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	117869560	C	A	117869560	4	1	170	1	0	0	0	0	0	1	0	0	12981	835	29	4	1297	4	RAD21	8	117869560	Nonsense_Mutation	SNP	C	TCGA-AB-2986-03A-01D-0739-09		117869560	28494462	4	1906											
OR51S1	119692	genome.wustl.edu	37	11	4870245	4870245	+	Missense_Mutation	SNP	C	C	T	rs560546339		TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr11:4870245C>T	ENST00000322101.2	-	1	269	c.194G>A	c.(193-195)cGc>cAc	p.R65H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R65H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCATTGGGCGGTGCAGGGC	0.572													C|||	1	0.000199681	0	0	5008	,	,		20057	0.001		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											116	93	101					11																	4870245		2201	4298	6499	4826821	SO:0001583	missense	0			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"GPCR / Class A : Olfactory receptors"	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.194G>A	11.37:g.4870245C>T	ENSP00000322754:p.Arg65His	2114	4.55	101					4826821	1045	43.32	810	B9EGZ1|Q6IFI2	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_SPASE_I_1,superfamily_Family A G protein-coupled receptor-like	p.R65H	ENST00000322101.2	37	c.194	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	C	13.92	2.380471	0.42207	.	.	ENSG00000176922	ENST00000322101	T	0.00333	8.07	4.85	1.69	0.24217	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001041	T	0.00210	0.0006	L	0.39245	1.2	0.09310	N	1	B	0.19706	0.038	B	0.10450	0.005	T	0.47100	-0.9143	10	0.87932	D	0	-7.7271	3.4877	0.07626	0.1696:0.4654:0.0:0.365	.	65	Q8NGJ8	O51S1_HUMAN	H	65	ENSP00000322754:R65H	ENSP00000322754:R65H	R	-	2	0	OR51S1	4826821	0.000000	0.05858	0.003000	0.11579	0.688000	0.40055	-1.163000	0.03138	0.592000	0.29728	0.563000	0.77884	CGC	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.572	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	protein_coding	OTTHUMT00000142179.1	C	NM_001004758		4826821	-1	no_errors	NM_001004758.1	genbank	human	provisional	54_36p	missense	SNP	0.000	T	T	4870245	C	T	4870245	3	4	170	1	0	0	0	0	1	0	0	0	11105	768	27	1	780	1	OR51S1	11	4870245	Missense_Mutation	SNP	C	TCGA-AB-2986-03A-01D-0739-09		4870245	130136271	5	1907											
KRT79	338785	genome.wustl.edu	37	12	53215780	53215780	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr12:53215780C>T	ENST00000330553.5	-	9	1518	c.1484G>A	c.(1483-1485)gGg>gAg	p.G495E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	495	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)	p.G495E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTGGTGGCCCCCCCACTCCC	0.622																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											54	46	49					12																	53215780		2203	4300	6503	51502047	SO:0001583	missense	0			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"-", "Intermediate filaments type II, keratins (basic)"	28930	protein-coding gene	gene with protein product	"keratin 6-like"	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1484G>A	12.37:g.53215780C>T	ENSP00000328358:p.Gly495Glu	803	7.37	64					51502047	272	46.25	234	Q6P465|Q7Z793	Missense_Mutation	SNP	superfamily_Prefoldin,HMMPfam_Filament,PatternScan_IF	p.G495E	ENST00000330553.5	37	c.1484	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874994	0.51695	.	.	ENSG00000185640	ENST00000330553	D	0.87650	-2.28	4.21	3.31	0.37934	.	0.000000	0.47093	D	0.000253	D	0.83912	0.5357	N	0.19112	0.55	0.09310	N	0.999998	D	0.58268	0.982	P	0.58172	0.834	T	0.74529	-0.3635	10	0.36615	T	0.2	.	9.4586	0.38769	0.2115:0.7885:0.0:0.0	.	495	Q5XKE5	K2C79_HUMAN	E	495	ENSP00000328358:G495E	ENSP00000328358:G495E	G	-	2	0	KRT79	51502047	0.011000	0.17503	0.094000	0.20943	0.088000	0.18126	1.224000	0.32539	1.331000	0.45412	0.655000	0.94253	GGG	-	NULL		0.622	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	protein_coding	OTTHUMT00000406376.1	C	NM_175834		51502047	-1	no_errors	NM_175834.2	genbank	human	validated	54_36p	missense	SNP	0.055	T	T	53215780	C	T	53215780	3	4	170	1	0	0	0	0	1	0	0	0	8492	623	22	2	127	2	KRT79	12	53215780	Missense_Mutation	SNP	C	TCGA-AB-2986-03A-01D-0739-09		53215780	80636115	6	1908											
FLT3	2322	genome.wustl.edu	37	13	28608263	28608264	+	In_Frame_Ins	INS	-	-	CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	-	-	-	CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr13:28608263_28608264insCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	ENST00000241453.7	-	14	1873_1874	c.1792_1793insCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATG	c.(1792-1794)gaa>gCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATGaa	p.597_598insAGSSDNEYFYVDFREY	FLT3_ENST00000380982.4_In_Frame_Ins_p.597_598insAGSSDNEYFYVDFREY|FLT3_ENST00000537084.1_In_Frame_Ins_p.597_598insAGSSDNEYFYVDFREY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	597	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.Y597_E598ins26(2)|p.597_598>DYVDFREY(1)|p.Y597_E598ins18(1)|p.E598>DMISPEDMK(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGATCATATTCATATTCTCTG	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Insertion - In frame(3)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506264	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1745_1792dupCCGGCTCCTCAGATAATGAGTACTTCTACGTTGATTTCAGAGAATATG	13.37:g.28608263_28608264insCATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	ENSP00000241453:p.Tyr597_Glu598insAlaGlySerSerAspAsnGluTyrPheTyrValAspPheArgGluTyr								27506263				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.598in_frame_insAGSSDNEYFYVDFREY	ENST00000241453.7	37	c.1793_1792	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506264	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.821:0.816	CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	28608264	-	CATATTCTCTGAAATCAACGTAGAAGTACTCATTATCTGAGGAGCCGG	28608263	7	5	170	1	0	1	1	0	0	0	0	0	5942	1783	62	0	1232	0	FLT3	13	28608263	In_Frame_Ins	INS	-	TCGA-AB-2986-03A-01D-0739-09		28608263	86561615	7	1909											
RNASE9	390443	genome.wustl.edu	37	14	21025166	21025166	+	Silent	SNP	C	C	T	rs148263052	byFrequency	TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr14:21025166C>T	ENST00000557068.1	-	4	1788	c.63G>A	c.(61-63)ctG>ctA	p.L21L	RNASE9_ENST00000338904.3_Silent_p.L21L|RNASE9_ENST00000557209.1_Silent_p.L26L|RNASE9_ENST00000554964.1_Silent_p.L21L|RNASE9_ENST00000404716.3_Silent_p.L26L|RNASE9_ENST00000556208.1_Silent_p.L26L|RNASE9_ENST00000555230.1_Silent_p.L21L|RNASE9_ENST00000553541.1_Silent_p.L21L|RNASE9_ENST00000429244.2_Silent_p.L21L|RNASE9_ENST00000553706.1_Silent_p.L26L			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	21						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.L21L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GCACCAGCTGCAGCAGCTGCT	0.413																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	14						C	,,,,,,	1,4405	2.1+/-5.4	0,1,2202	38	41	40		63,63,63,78,78,78,78	-1.6	0	14	dbSNP_134	40	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RNASE9	NM_001001673.3,NM_001110356.1,NM_001110357.1,NM_001110358.1,NM_001110359.1,NM_001110360.1,NM_001110361.1	,,,,,,	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	,,,,,,	21/206,21/206,21/206,26/211,26/211,26/211,26/211	21025166	5,13001	2203	4300	6503	20095006	SO:0001819	synonymous_variant	0			AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"Ribonucleases, RNase A"	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.63G>A	14.37:g.21025166C>T		572	5.45	33					20095006	458	44.58	370	A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Silent	SNP	superfamily_RNase A-like	p.L21	ENST00000557068.1	37	c.63	CCDS32036.1	14																																																																																			-	NULL		0.413	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RNASE9	protein_coding	OTTHUMT00000411094.1	C	NM_001001673		20095006	-1	no_errors	NM_001001673.3	genbank	human	provisional	54_36p	silent	SNP	0.000	T	T	21025166	C	T	21025166	2	4	170	1	0	0	0	0	0	0	0	1	13410	697	25	2		2	RNASE9	14	21025166	Silent	SNP	C	TCGA-AB-2986-03A-01D-0739-09		21025166	86324374	8	1910											
CTSG	1511	genome.wustl.edu	37	14	25043961	25043961	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr14:25043961G>T	ENST00000216336.2	-	3	295	c.259C>A	c.(259-261)Caa>Aaa	p.Q87K		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	87	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|defense response to fungus (GO:0050832)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|negative regulation of growth of symbiont in host (GO:0044130)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|positive regulation of immune response (GO:0050778)|proteolysis (GO:0006508)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	heparin binding (GO:0008201)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)	p.Q87K(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTGATGTGTTGCTGGGTGTTT	0.532																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											203	165	178					14																	25043961		2203	4300	6503	24113801	SO:0001583	missense	0			M16117	CCDS9631.1	14q12	2013-02-25			ENSG00000100448	ENSG00000100448		"Cathepsins", "Endogenous ligands"	2532	protein-coding gene	gene with protein product		116830				2569462	Standard	NM_001911		Approved	CG	uc001wpq.3	P08311	OTTHUMG00000140182	ENST00000216336.2:c.259C>A	14.37:g.25043961G>T	ENSP00000216336:p.Gln87Lys	1179	2.8	34		133	50.19	135	24113801	913	45.98	778	Q6IBJ6|Q9UCA5|Q9UCU6	Missense_Mutation	SNP	HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.Q87K	ENST00000216336.2	37	c.259	CCDS9631.1	14	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703553	0.68501	.	.	ENSG00000100448	ENST00000216336	D	0.90069	-2.61	5.14	3.28	0.37604	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.840520	0.09805	N	0.753568	D	0.92358	0.7575	L	0.60904	1.88	0.34373	D	0.692288	D	0.89917	1.0	D	0.97110	1.0	D	0.89367	0.3672	10	0.87932	D	0	.	7.5985	0.28063	0.0907:0.1667:0.7426:0.0	.	87	P08311	CATG_HUMAN	K	87	ENSP00000216336:Q87K	ENSP00000216336:Q87K	Q	-	1	0	CTSG	24113801	1.000000	0.71417	0.953000	0.39169	0.061000	0.15899	2.902000	0.48703	0.801000	0.34066	0.655000	0.94253	CAA	-	HMMPfam_Trypsin,HMMSmart_Tryp_SPc,superfamily_Pept_Ser_Cys		0.532	CTSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSG	protein_coding	OTTHUMT00000276536.2	G	NM_001911		24113801	-1	no_errors	NM_001911.2	genbank	human	reviewed	54_36p	missense	SNP	0.994	T	T	25043961	G	T	25043961	3	4	170	1	0	0	0	0	1	0	0	0	4035	1328	46	4	520	4	CTSG	14	25043961	Missense_Mutation	SNP	G	TCGA-AB-2986-03A-01D-0739-09	4018795	25043961	82305579	9	1911											
FLRT2	23768	genome.wustl.edu	37	14	86089411	86089411	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr14:86089411A>T	ENST00000330753.4	+	2	2320	c.1553A>T	c.(1552-1554)tAt>tTt	p.Y518F	FLRT2_ENST00000554746.1_Missense_Mutation_p.Y518F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	518					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.Y518F(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATGCCTCCTATCTGAACAAC	0.587																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											111	106	108					14																	86089411		2203	4300	6503	85159164	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"Fibronectin type III domain containing"	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1553A>T	14.37:g.86089411A>T	ENSP00000332879:p.Tyr518Phe	654	5.75	40					85159164	464	43.64	360	A0AV84|B7ZLP3	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_LRRNT,HMMPfam_LRRCT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like,superfamily_SSF52058	p.Y518F	ENST00000330753.4	37	c.1553	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	A	3.227	-0.158335	0.06544	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55052	0.54;0.54	6.17	4.97	0.65823	.	0.623444	0.17487	N	0.172486	T	0.34048	0.0884	L	0.29908	0.895	0.20307	N	0.999918	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	10	0.10902	T	0.67	-10.2701	6.3098	0.21159	0.6217:0.1201:0.0:0.2582	.	518	O43155	FLRT2_HUMAN	F	518;518;171	ENSP00000332879:Y518F;ENSP00000451050:Y518F	ENSP00000332879:Y518F	Y	+	2	0	FLRT2	85159164	0.010000	0.17322	0.993000	0.49108	0.727000	0.41649	1.372000	0.34261	2.371000	0.80710	0.533000	0.62120	TAT	-	NULL		0.587	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	protein_coding	OTTHUMT00000413193.1	A			85159164	1	no_errors	NM_013231.4	genbank	human	reviewed	54_36p	missense	SNP	0.501	T	T	86089411	A	T	86089411	3	4	170	1	0	0	0	0	1	0	0	0	5939	449	16	5	1555	5	FLRT2	14	86089411	Missense_Mutation	SNP	A	TCGA-AB-2986-03A-01D-0739-09	61045450	86089411	21260129	10	1912											
NAE1	8883	genome.wustl.edu	37	16	66857169	66857169	+	Missense_Mutation	SNP	C	C	T	rs373607253		TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chr16:66857169C>T	ENST00000290810.3	-	6	459	c.362G>A	c.(361-363)tGt>tAt	p.C121Y	NAE1_ENST00000379463.2_Missense_Mutation_p.C115Y|NAE1_ENST00000359087.4_Missense_Mutation_p.C124Y|NAE1_ENST00000394074.2_Missense_Mutation_p.C32Y|NAE1_ENST00000564040.2_Intron			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	121					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.C121Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	AGTAAACCTACAGAAAAATGA	0.274																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16						C	TYR/CYS,TYR/CYS,TYR/CYS	0,4400		0,0,2200	45	52	50		344,95,362	4.8	1	16		50	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense,missense	NAE1	NM_001018159.1,NM_001018160.1,NM_003905.3	194,194,194	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	115/529,32/446,121/535	66857169	1,12995	2200	4298	6498	65414670	SO:0001583	missense	0			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"Ubiquitin-like modifier activating enzymes"	621	protein-coding gene	gene with protein product		603385	"amyloid beta precursor protein binding protein 1, 59kDa"	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.362G>A	16.37:g.66857169C>T	ENSP00000290810:p.Cys121Tyr	158	5.95	10		29	39.58	19	65414670	257	37.16	152	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins	p.C121Y	ENST00000290810.3	37	c.362	CCDS10820.1	16	.	.	.	.	.	.	.	.	.	.	C	14.07	2.426161	0.43020	0.0	1.16E-4	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	4.78	4.78	0.61160	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.398340	0.30771	N	0.008902	T	0.36358	0.0964	L	0.40543	1.245	0.42803	D	0.99393	B;B;B;B	0.26845	0.161;0.02;0.041;0.105	B;B;B;B	0.29862	0.024;0.024;0.108;0.108	T	0.31024	-0.9958	10	0.59425	D	0.04	-4.0677	12.1556	0.54074	0.0:0.9085:0.0:0.0915	.	32;124;121;115	A8MU28;A6NCK0;Q13564;A6NFN4	.;.;ULA1_HUMAN;.	Y	124;121;115;32	ENSP00000351990:C124Y;ENSP00000290810:C121Y;ENSP00000368776:C115Y;ENSP00000377637:C32Y	ENSP00000290810:C121Y	C	-	2	0	NAE1	65414670	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.436000	0.52856	2.340000	0.79590	0.591000	0.81541	TGT	-	HMMPfam_ThiF,superfamily_Activating enzymes of the ubiquitin-like proteins		0.274	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NAE1	protein_coding	OTTHUMT00000268832.1	C	NM_003905		65414670	-1	no_errors	NM_003905.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	66857169	C	T	66857169	3	4	170	1	0	0	0	0	1	0	0	0	10139	478	17	2	1302	2	NAE1	16	66857169	Missense_Mutation	SNP	C	TCGA-AB-2986-03A-01D-0739-09		66857169	23497584	11	1913											
RBM41	55285	genome.wustl.edu	37	X	106310914	106310914	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2986-03A-01D-0739-09	TCGA-AB-2986-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f389f28b-93c3-460a-9dcf-9f09d253b4be	d6e1248c-8bb3-4040-a0d2-c010edc8e56d	g.chrX:106310914A>C	ENST00000372479.3	-	7	1115	c.1085T>G	c.(1084-1086)aTa>aGa	p.I362R	RBM41_ENST00000372487.1_Missense_Mutation_p.I362R	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	362	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I362R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TTGCCATGCTATCTCCTTATC	0.313																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											124	115	118					X																	106310914		2203	4300	6503	106197570	SO:0001583	missense	0			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"RNA binding motif (RRM) containing"	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1085T>G	X.37:g.106310914A>C	ENSP00000361557:p.Ile362Arg	620	6.34	42		21	0	0	106197570	693	43.75	539	Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD	p.I362R	ENST00000372479.3	37	c.1085	CCDS14526.1	X	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454111	0.26161	.	.	ENSG00000089682	ENST00000372487;ENST00000372479	T;T	0.15718	2.4;2.4	5.42	2.95	0.34219	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.522245	0.20394	N	0.093199	T	0.11707	0.0285	L	0.41824	1.3	0.26007	N	0.982039	B	0.20887	0.049	B	0.22601	0.04	T	0.32322	-0.9911	10	0.23302	T	0.38	.	3.9965	0.09561	0.7145:0.0:0.1003:0.1851	.	362	Q96IZ5	RBM41_HUMAN	R	362	ENSP00000361565:I362R;ENSP00000361557:I362R	ENSP00000361557:I362R	I	-	2	0	RBM41	106197570	0.790000	0.28787	0.487000	0.27428	0.831000	0.47069	1.907000	0.39897	0.201000	0.20466	0.417000	0.27973	ATA	-	HMMPfam_RRM_1,HMMSmart_SM00360,superfamily_RNA-binding domain RBD		0.313	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM41	protein_coding	OTTHUMT00000057819.1	A	NM_018301		106197570	-1	no_errors	NM_018301.2	genbank	human	provisional	54_36p	missense	SNP	0.636	C	C	106310914	A	C	106310914	3	2	170	1	0	0	0	0	1	0	0	0	13135	449	16	5	169	5	RBM41	23	106310914	Missense_Mutation	SNP	A	TCGA-AB-2986-03A-01D-0739-09		106310914	48959646	12	1914											
DNMT3A	1788	genome.wustl.edu	37	2	25457242	25457242	+	Missense_Mutation	SNP	C	C	T	rs147001633	byFrequency	TCGA-AB-2987-03A-01D-0739-09	TCGA-AB-2987-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	372359dc-f250-4f75-a817-01c92fe03688	e0cc389e-0e7c-4e40-885e-4b3427f1cc36	g.chr2:25457242C>T	ENST00000264709.3	-	23	2982	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R882H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R693H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R659H	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	882	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.		R -> C (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> H (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.|R -> P (in a patient with chronic myelomonocytic leukemia; somatic mutation). {ECO:0000269|PubMed:21828135}.		C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R882H(209)|p.R882P(5)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGCCAAGCGGCTCATGTT	0.592			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	214	Substitution - Missense(214)	haematopoietic_and_lymphoid_tissue(214)	2						C	HIS/ARG,HIS/ARG,HIS/ARG	4,4402	6.2+/-15.9	0,4,2199	56	51	53		2645,2078,2645	5.7	1	2	dbSNP_134	53	5,8595	3.0+/-9.4	0,5,4295	yes	missense,missense,missense	DNMT3A	NM_022552.3,NM_153759.2,NM_175629.1	29,29,29	0,9,6494	TT,TC,CC		0.0581,0.0908,0.0692	possibly-damaging,possibly-damaging,possibly-damaging	882/913,693/724,882/913	25457242	9,12997	2203	4300	6503	25310746	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2645G>A	2.37:g.25457242C>T	ENSP00000264709:p.Arg882His	965	6.83	71		16	30.43	7	25310746	592	33.63	301	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.R882H	ENST00000264709.3	37	c.2645	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380427	0.82682	9.08E-4	5.81E-4	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97186	-4.28;-4.28;-4.28;-4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.80982	2.52	0.80722	D	1	P;B	0.38922	0.651;0.11	B;B	0.23018	0.043;0.003	D	0.95939	0.8945	10	0.62326	D	0.03	-8.768	18.4404	0.90665	0.0:1.0:0.0:0.0	.	882;693	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	H	693;882;882;659	ENSP00000370122:R693H;ENSP00000324375:R882H;ENSP00000264709:R882H;ENSP00000384237:R659H	ENSP00000264709:R882H	R	-	2	0	DNMT3A	25310746	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	2.698000	0.92095	0.561000	0.74099	CGC	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.592	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	C	NM_022552		25310746	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25457242	C	T	25457242	3	4	171	1	0	0	0	0	1	0	0	0	4676	768	27	1	97	1	DNMT3A	2	25457242	Missense_Mutation	SNP	C	TCGA-AB-2987-03A-01D-0739-09		25457242	217742131	1	1915											
PDGFRA	5156	genome.wustl.edu	37	4	55156567	55156567	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2987-03A-01D-0739-09	TCGA-AB-2987-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	372359dc-f250-4f75-a817-01c92fe03688	e0cc389e-0e7c-4e40-885e-4b3427f1cc36	g.chr4:55156567G>C	ENST00000257290.5	+	22	3299	c.2968G>C	c.(2968-2970)Ggt>Cgt	p.G990R	FIP1L1_ENST00000507166.1_Missense_Mutation_p.G750R	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	990					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|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)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G990R(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGCATACATTGGTGTCACCTA	0.488			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	dbGAP		Dom	yes		4	4q11-q13	5156	"platelet-derived growth factor, alpha-receptor"		"L, M, O"	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											178	152	161					4																	55156567		2203	4300	6503	54851324	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"CD molecules", "Immunoglobulin superfamily / I-set domain containing"	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2968G>C	4.37:g.55156567G>C	ENSP00000257290:p.Gly990Arg	1526	5.74	93					54851324	924	31.44	426	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,PatternScan_RECEPTOR_TYR_KIN_III,HMMSmart_SM00220,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.G990R	ENST00000257290.5	37	c.2968	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765124	0.69878	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77489	-1.1;-0.92	5.77	5.77	0.91146	.	0.000000	0.32719	U	0.005737	D	0.85191	0.5640	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.82577	-0.0388	10	0.35671	T	0.21	.	19.9922	0.97370	0.0:0.0:1.0:0.0	.	990	P16234	PGFRA_HUMAN	R	750;990	ENSP00000423325:G750R;ENSP00000257290:G990R	ENSP00000423325:G750R	G	+	1	0	FIP1L1;PDGFRA	54851324	1.000000	0.71417	0.923000	0.36655	0.048000	0.14542	9.363000	0.97131	2.740000	0.93945	0.557000	0.71058	GGT	-	NULL		0.488	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	protein_coding	OTTHUMT00000250598.2	G	NM_006206		54851324	1	no_errors	NM_006206.4	genbank	human	reviewed	54_36p	missense	SNP	0.999	C	C	55156567	G	C	55156567	3	2	171	1	0	0	0	0	1	0	0	0	11661	1348	47	4	3050	4	PDGFRA	4	55156567	Missense_Mutation	SNP	G	TCGA-AB-2987-03A-01D-0739-09		55156567	135997709	2	1916											
ENC1	8507	genome.wustl.edu	37	5	73930898	73930898	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2987-03A-01D-0739-09	TCGA-AB-2987-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	372359dc-f250-4f75-a817-01c92fe03688	e0cc389e-0e7c-4e40-885e-4b3427f1cc36	g.chr5:73930898C>G	ENST00000302351.4	-	2	2543	c.1413G>C	c.(1411-1413)agG>agC	p.R471S	ENC1_ENST00000537006.1_Missense_Mutation_p.R471S|ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000510316.1_Missense_Mutation_p.R398S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	471					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R471S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GTACAGTCCACCTGTTTTCAC	0.498																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											50	56	54					5																	73930898		2203	4300	6503	73966654	SO:0001583	missense	0			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"Kelch-like", "BTB/POZ domain containing"	3345	protein-coding gene	gene with protein product	"kelch-like family member 37"	605173	"ectodermal-neural cortex 1 (with BTB-like domain)"	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1413G>C	5.37:g.73930898C>G	ENSP00000306356:p.Arg471Ser	945	6.43	65		4	55.56	5	73966654	506	32.76	247	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	HMMSmart_SM00225,HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain,superfamily_POZ domain,HMMPfam_BACK,HMMPfam_BTB	p.R471S	ENST00000302351.4	37	c.1413	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054474	0.36277	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.65916	-0.18;-0.18;-0.18	5.89	5.01	0.66863	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.51941	0.1704	L	0.47078	1.49	0.58432	D	0.999995	B	0.28900	0.227	B	0.32211	0.142	T	0.48864	-0.8997	10	0.29301	T	0.29	.	6.649	0.22951	0.0:0.6953:0.0:0.3047	.	471	O14682	ENC1_HUMAN	S	471;398;471	ENSP00000306356:R471S;ENSP00000423804:R398S;ENSP00000446289:R471S	ENSP00000306356:R471S	R	-	3	2	ENC1	73966654	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.200000	0.32247	1.470000	0.48102	0.561000	0.74099	AGG	-	HMMPfam_Kelch_1,HMMSmart_SM00612,superfamily_Galactose oxidase central domain		0.498	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	protein_coding	OTTHUMT00000219862.2	C	NM_003633		73966654	-1	no_errors	NM_003633.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	73930898	C	G	73930898	3	3	171	1	0	0	0	0	1	0	0	0	5113	506	18	4	360	4	ENC1	5	73930898	Missense_Mutation	SNP	C	TCGA-AB-2987-03A-01D-0739-09		73930898	106984362	3	1917											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2987-03A-01D-0739-09	TCGA-AB-2987-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	372359dc-f250-4f75-a817-01c92fe03688	e0cc389e-0e7c-4e40-885e-4b3427f1cc36	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	171	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2987-03A-01D-0739-09	96906649	170837547	10077713	4	1918											
PTPRE	5791	genome.wustl.edu	37	10	129854424	129854424	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-2987-03A-01D-0739-09	TCGA-AB-2987-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	372359dc-f250-4f75-a817-01c92fe03688	e0cc389e-0e7c-4e40-885e-4b3427f1cc36	g.chr10:129854424T>A	ENST00000254667.3	+	7	737	c.458T>A	c.(457-459)cTg>cAg	p.L153Q	PTPRE_ENST00000471218.1_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.L153Q|PTPRE_ENST00000306042.5_Missense_Mutation_p.L95Q|PTPRE_ENST00000430713.2_Intron	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	153	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L153Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	ACTTTTGAACTGGCAAATAAA	0.353																																					Colon(52;977 1184 20575 41685)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											148	152	150					10																	129854424		2203	4300	6503	129744414	SO:0001583	missense	0			AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.458T>A	10.37:g.129854424T>A	ENSP00000254667:p.Leu153Gln	1466	6.8	107		105	52.05	114	129744414	1104	33.29	553	Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II	p.L153Q	ENST00000254667.3	37	c.458	CCDS7657.1	10	.	.	.	.	.	.	.	.	.	.	T	13.29	2.191815	0.38707	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000455661;ENST00000306042	T;T;T	0.12039	2.72;2.72;2.72	4.83	-0.578	0.11724	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.558801	0.17174	N	0.184180	T	0.11239	0.0274	N	0.08118	0	0.80722	D	1	D;B;B;B	0.53745	0.962;0.08;0.077;0.08	D;B;B;B	0.64321	0.924;0.045;0.062;0.045	T	0.39583	-0.9607	10	0.28530	T	0.3	.	4.123	0.10114	0.3941:0.1384:0.0:0.4675	.	131;153;95;153	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	Q	153;131;153;153;95	ENSP00000254667:L153Q;ENSP00000402337:L153Q;ENSP00000303350:L95Q	ENSP00000254667:L153Q	L	+	2	0	PTPRE	129744414	0.363000	0.24989	0.998000	0.56505	0.975000	0.68041	0.016000	0.13377	-0.004000	0.14419	0.456000	0.33151	CTG	-	HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II		0.353	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTPRE	protein_coding	OTTHUMT00000050990.1	T			129744414	1	no_errors	NM_006504.4	genbank	human	reviewed	54_36p	missense	SNP	0.997	A	A	129854424	T	A	129854424	3	1	171	1	0	0	0	0	1	0	0	0	12800	1580	55	5	515	5	PTPRE	10	129854424	Missense_Mutation	SNP	T	TCGA-AB-2987-03A-01D-0739-09		129854424	5680323	5	1919											
KRAS	3845	genome.wustl.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-AB-2987-03A-01D-0739-09	TCGA-AB-2987-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	372359dc-f250-4f75-a817-01c92fe03688	e0cc389e-0e7c-4e40-885e-4b3427f1cc36	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	dbGAP		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"L, E, M, O"	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	12											88	78	82					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp	962	5.29	54		9	52.63	10	25289548	1012	31.14	459	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.G13D	ENST00000256078.4	37	c.38	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC	-	HMMSmart_SM00176,HMMSmart_SM00173,HMMSmart_SM00174,HMMSmart_SM00175,HMMPfam_Ras,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25289548	-1	no_errors	NM_033360.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	25398281	C	T	25398281	3	4	171	1	0	0	0	0	1	0	0	0	8438	739	26	2	668	2	KRAS	12	25398281	Missense_Mutation	SNP	C	TCGA-AB-2987-03A-01D-0739-09		25398281	108453614	6	1920											
KRTAP10-8	386681	genome.wustl.edu	37	21	46032438	46032438	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2987-03A-01D-0739-09	TCGA-AB-2987-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	372359dc-f250-4f75-a817-01c92fe03688	e0cc389e-0e7c-4e40-885e-4b3427f1cc36	g.chr21:46032438G>A	ENST00000334662.2	+	1	443	c.421G>A	c.(421-423)Gct>Act	p.A141T	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	141	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A141T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTCTGGAGCTTCCTCCCC	0.617																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	21											178	145	156					21																	46032438		2203	4300	6503	44856866	SO:0001583	missense	0			AB076355	CCDS13713.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000187766	ENSG00000187766		"Keratin associated proteins"	20525	protein-coding gene	gene with protein product			"keratin associated protein 18-8"	KRTAP18-8			Standard	NM_198695		Approved	KRTAP18.8, KAP10.8	uc002zfo.1	P60410	OTTHUMG00000057632	ENST00000334662.2:c.421G>A	21.37:g.46032438G>A	ENSP00000335565:p.Ala141Thr	1919	5.82	119					44856866	1206	31.97	578	A0JNW4	Missense_Mutation	SNP	HMMPfam_Keratin_B2	p.A141T	ENST00000334662.2	37	c.421	CCDS13713.1	21	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.791050	0.00623	.	.	ENSG00000187766	ENST00000334662	T	0.00768	5.72	1.81	-3.62	0.04543	.	.	.	.	.	T	0.00524	0.0017	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.43893	-0.9363	9	0.12103	T	0.63	.	4.6148	0.12420	0.1376:0.0:0.3981:0.4643	.	141	P60410	KR108_HUMAN	T	141	ENSP00000335565:A141T	ENSP00000335565:A141T	A	+	1	0	KRTAP10-8	44856866	0.745000	0.28261	0.000000	0.03702	0.009000	0.06853	-0.536000	0.06135	-1.444000	0.01950	-0.823000	0.03104	GCT	-	NULL		0.617	KRTAP10-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-8	protein_coding	OTTHUMT00000128035.1	G	NM_198695		44856866	1	no_errors	NM_198695.1	genbank	human	provisional	54_36p	missense	SNP	0.041	A	A	46032438	G	A	46032438	3	1	171	1	0	0	0	0	1	0	0	0	8515	971	34	2	423	2	KRTAP10-8	21	46032438	Missense_Mutation	SNP	G	TCGA-AB-2987-03A-01D-0739-09		46032438	2097457	7	1921											
GUCA2A	2980	genome.wustl.edu	37	1	42629190	42629190	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr1:42629190A>G	ENST00000357001.2	-	2	172	c.167T>C	c.(166-168)tTt>tCt	p.F56S		NM_033553.2	NP_291031.2	Q02747	GUC2A_HUMAN	guanylate cyclase activator 2A (guanylin)	56						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	guanylate cyclase activator activity (GO:0030250)|hormone activity (GO:0005179)	p.F56S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|pancreas(1)|skin(1)	5	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGGGTGCAAAGTTCCTGAG	0.537																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											50	51	51					1																	42629190		2203	4300	6503	42401777	SO:0001583	missense	0			X74322	CCDS465.1	1p35-p34	2014-01-30			ENSG00000197273	ENSG00000197273		"Endogenous ligands"	4682	protein-coding gene	gene with protein product	"prepro-guanylin"	139392		GUCA2		1327879, 7892222	Standard	NM_033553		Approved	STARA	uc001chd.1	Q02747	OTTHUMG00000007023	ENST00000357001.2:c.167T>C	1.37:g.42629190A>G	ENSP00000349493:p.Phe56Ser	246	1.2	3		0	0	0	42401777	150	42.08	109		Missense_Mutation	SNP	HMMPfam_Guanylin,superfamily_Proguanylin,PatternScan_2FE2S_FER_1	p.F56S	ENST00000357001.2	37	c.167	CCDS465.1	1	.	.	.	.	.	.	.	.	.	.	A	6.428	0.447110	0.12223	.	.	ENSG00000197273	ENST00000357001	T	0.41758	0.99	4.14	-0.937	0.10415	.	1.444430	0.04817	N	0.436311	T	0.28433	0.0703	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.12967	-1.0527	10	0.14252	T	0.57	-0.7128	4.1809	0.10374	0.3232:0.4159:0.261:0.0	.	56	Q02747	GUC2A_HUMAN	S	56	ENSP00000349493:F56S	ENSP00000349493:F56S	F	-	2	0	GUCA2A	42401777	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.112000	0.10791	-0.161000	0.10983	0.533000	0.62120	TTT	-	HMMPfam_Guanylin,superfamily_Proguanylin		0.537	GUCA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA2A	protein_coding	OTTHUMT00000018306.1	A	NM_033553		42401777	-1	no_errors	NM_033553.2	genbank	human	validated	54_36p	missense	SNP	0.000	G	G	42629190	A	G	42629190	3	3	172	1	0	0	0	0	1	0	0	0	6891	14	1	3	188	3	GUCA2A	1	42629190	Missense_Mutation	SNP	A	TCGA-AB-2988-03A-01D-0739-09		42629190	206621431	1	1922											
DNMT3A	1788	genome.wustl.edu	37	2	25457161	25457161	+	Missense_Mutation	SNP	A	A	C			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	A	A	A	C	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr2:25457161A>C	ENST00000264709.3	-	23	3063	c.2726T>G	c.(2725-2727)tTt>tGt	p.F909C	DNMT3A_ENST00000380746.4_Missense_Mutation_p.F720C|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F686C|DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F909C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	909	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.F909C(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACACACGCAAAATACTCCTT	0.502			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											73	70	71					2																	25457161		2203	4300	6503	25310665	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2726T>G	2.37:g.25457161A>C	ENSP00000264709:p.Phe909Cys	703	2.9	21		54	43.16	41	25310665	329	45.44	274	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.F909C	ENST00000264709.3	37	c.2726	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010343	0.54361	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29	5.55	5.55	0.83447	.	0.100850	0.64402	D	0.000001	D	0.98381	0.9462	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.85130	0.997;0.893	D	0.99211	1.0876	10	0.87932	D	0	-3.0294	9.8701	0.41168	0.8475:0.0:0.0:0.1525	.	909;720	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	C	720;909;909;686	ENSP00000370122:F720C;ENSP00000324375:F909C;ENSP00000264709:F909C;ENSP00000384237:F686C	ENSP00000264709:F909C	F	-	2	0	DNMT3A	25310665	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.333000	0.79214	2.098000	0.63641	0.459000	0.35465	TTT	-	superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.502	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	A	NM_022552		25310665	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	25457161	A	C	25457161	3	2	172	1	0	0	0	0	1	0	0	0	4676	14	1	5	16	5	DNMT3A	2	25457161	Missense_Mutation	SNP	A	TCGA-AB-2988-03A-01D-0739-09		25457161	217742212	2	1923											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CATG			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	-	-	-	CATG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr5:170837547_170837548insCATG	ENST00000296930.5	+	11	1164_1165	c.863_864insCATG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCATG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CATG	CATG	170837548	-	CATG	170837547	7	5	172	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2988-03A-01D-0739-09		170837547	10077713	3	1924											
SLC17A3	10786	genome.wustl.edu	37	6	25850330	25850330	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr6:25850330G>A	ENST00000360657.3	-	8	1120	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	SLC17A3_ENST00000361703.6_Missense_Mutation_p.L279F|SLC17A3_ENST00000397060.4_Missense_Mutation_p.L357F			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	279					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.L279F(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TTGGTTAGAAGGAAATCTGCC	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											80	80	80					6																	25850330		2203	4300	6503	25958309	SO:0001583	missense	0			U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"Solute carriers"	10931	protein-coding gene	gene with protein product		611034	"solute carrier family 17 (sodium phosphate), member 3"			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.835C>T	6.37:g.25850330G>A	ENSP00000353873:p.Leu279Phe	810	3.45	29		0	0	0	25958309	762	44.82	619	B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.L357F	ENST00000360657.3	37	c.1069	CCDS4566.2	6	.	.	.	.	.	.	.	.	.	.	G	15.15	2.748069	0.49257	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59502	0.26;0.26;0.26	4.5	3.63	0.41609	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.44902	D	0.000413	T	0.60805	0.2297	M	0.77486	2.375	0.42351	D	0.992375	P;P	0.49961	0.93;0.924	P;P	0.60415	0.819;0.874	T	0.63175	-0.6696	10	0.42905	T	0.14	.	8.97	0.35901	0.1067:0.0:0.8933:0.0	.	357;279	B7Z511;O00476	.;NPT4_HUMAN	F	357;279;279	ENSP00000380250:L357F;ENSP00000353873:L279F;ENSP00000355307:L279F	ENSP00000353873:L279F	L	-	1	0	SLC17A3	25958309	1.000000	0.71417	0.992000	0.48379	0.624000	0.37722	3.963000	0.56773	1.186000	0.42985	0.650000	0.86243	CTT	-	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter		0.398	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	SLC17A3	protein_coding	OTTHUMT00000040070.2	G			25958309	-1	no_errors	NM_001098486.1	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	25850330	G	A	25850330	3	1	172	1	0	0	0	0	1	0	0	0	14418	1000	35	2	443	2	SLC17A3	6	25850330	Missense_Mutation	SNP	G	TCGA-AB-2988-03A-01D-0739-09		25850330	145264737	4	1925											
LRWD1	222229	genome.wustl.edu	37	7	102106693	102106693	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr7:102106693C>A	ENST00000292616.5	+	3	560	c.408C>A	c.(406-408)aaC>aaA	p.N136K	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	136					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.N136K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						AGGTGGAGAACCTGAATCGGG	0.517																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											102	87	92					7																	102106693		2203	4300	6503	101893698	SO:0001583	missense	0			AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"WD repeat domain containing"	21769	protein-coding gene	gene with protein product	"origin recognition complex associated", "centromere protein 33"	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.408C>A	7.37:g.102106693C>A	ENSP00000292616:p.Asn136Lys	194	1.02	2		12	61.29	19	101893698	110	46.34	95	A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMSmart_WD40,HMMSmart_LRR_TYP,superfamily_WD40_like,PatternScan_WD_REPEATS_1,HMMPfam_WD40,superfamily_SSF52058	p.N136K	ENST00000292616.5	37	c.408	CCDS34715.1	7	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941514	0.34283	.	.	ENSG00000161036	ENST00000292616	T	0.60548	0.18	5.0	3.18	0.36537	.	0.834581	0.11529	N	0.554930	T	0.40398	0.1115	N	0.22421	0.69	0.23568	N	0.997395	B	0.17038	0.02	B	0.16722	0.016	T	0.25433	-1.0132	10	0.27785	T	0.31	-12.2877	6.8719	0.24125	0.0:0.7097:0.0:0.2903	.	136	Q9UFC0	LRWD1_HUMAN	K	136	ENSP00000292616:N136K	ENSP00000292616:N136K	N	+	3	2	LRWD1	101893698	0.022000	0.18835	0.790000	0.31976	0.906000	0.53458	0.097000	0.15168	0.682000	0.31407	0.561000	0.74099	AAC	-	superfamily_SSF52058		0.517	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRWD1	protein_coding	OTTHUMT00000349493.1	C	NM_152892		101893698	1	no_errors	NM_152892.1	genbank	human	provisional	54_36p	missense	SNP	0.923	A	A	102106693	C	A	102106693	3	1	172	1	0	0	0	0	1	0	0	0	9047	506	18	4	418	4	LRWD1	7	102106693	Missense_Mutation	SNP	C	TCGA-AB-2988-03A-01D-0739-09		102106693	57031970	5	1926											
BAAT	570	genome.wustl.edu	37	9	104124840	104124840	+	Missense_Mutation	SNP	G	G	A	rs138094960	byFrequency	TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr9:104124840G>A	ENST00000395051.3	-	3	1197	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	BAAT_ENST00000259407.2_Missense_Mutation_p.T376M			Q14032	BAAT_HUMAN	bile acid CoA:amino acid N-acyltransferase	376					acyl-CoA metabolic process (GO:0006637)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid conjugation (GO:0002152)|bile acid metabolic process (GO:0008206)|fatty acid metabolic process (GO:0006631)|glycine metabolic process (GO:0006544)|liver development (GO:0001889)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|taurine metabolic process (GO:0019530)	cytosol (GO:0005829)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carboxylic ester hydrolase activity (GO:0052689)|glycine N-choloyltransferase activity (GO:0047963)|long-chain acyl-CoA hydrolase activity (GO:0052816)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|N-acyltransferase activity (GO:0016410)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|very long chain acyl-CoA hydrolase activity (GO:0052817)	p.T376M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ATCGTGGGTCGTTGAGGCACA	0.542																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	9						G	MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	190	163	172		1127,1127	-9.2	0	9	dbSNP_134	172	0,8600		0,0,4300	no	missense,missense	BAAT	NM_001127610.1,NM_001701.3	81,81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	376/419,376/419	104124840	2,13004	2203	4300	6503	103164661	SO:0001583	missense	0			L34081	CCDS6752.1	9q22.3	2014-06-24	2014-06-24		ENSG00000136881	ENSG00000136881	2.3.1.65		932	protein-coding gene	gene with protein product	"glycine N-choloyltransferase"	602938	"bile acid Coenzyme A:amino acid N-acyltransferase (glycine N-choloyltransferase)", "bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)"				Standard	NM_001701		Approved	BAT	uc010mtd.3	Q14032	OTTHUMG00000020377	ENST00000395051.3:c.1127C>T	9.37:g.104124840G>A	ENSP00000378491:p.Thr376Met	757	2.57	20		0	0	0	103164661	641	48.35	600	Q3B7W9|Q96L31	Missense_Mutation	SNP	HMMPfam_Bile_Hydr_Trans,HMMPfam_BAAT_C,superfamily_SSF53474	p.T376M	ENST00000395051.3	37	c.1127	CCDS6752.1	9	.	.	.	.	.	.	.	.	.	.	G	8.624	0.892078	0.17613	4.54E-4	0.0	ENSG00000136881	ENST00000259407;ENST00000395051	T;T	0.29655	1.56;1.56	4.86	-9.21	0.00678	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	2.077550	0.01692	N	0.026733	T	0.07458	0.0188	N	0.01352	-0.895	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.20273	-1.0280	10	0.22706	T	0.39	1.7285	0.5166	0.00604	0.2841:0.1284:0.2761:0.3114	.	376	Q14032	BAAT_HUMAN	M	376	ENSP00000259407:T376M;ENSP00000378491:T376M	ENSP00000259407:T376M	T	-	2	0	BAAT	103164661	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.788000	0.01763	-1.289000	0.02375	-0.911000	0.02809	ACG	-	HMMPfam_BAAT_C,superfamily_SSF53474		0.542	BAAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAAT	protein_coding	OTTHUMT00000053433.1	G			103164661	-1	no_errors	NM_001701.1	genbank	human	reviewed	54_36p	missense	SNP	0.000	A	A	104124840	G	A	104124840	3	1	172	1	0	0	0	0	1	0	0	0	1280	1145	40	1	133	1	BAAT	9	104124840	Missense_Mutation	SNP	G	TCGA-AB-2988-03A-01D-0739-09		104124840	37088591	6	1927											
MUC5B	727897	genome.wustl.edu	37	11	1269769	1269769	+	Missense_Mutation	SNP	C	C	A	rs200169119		TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr11:1269769C>A	ENST00000529681.1	+	31	11717	c.11659C>A	c.(11659-11661)Cct>Act	p.P3887T	MUC5B_ENST00000447027.1_Missense_Mutation_p.P3890T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3887	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCACGCACGCCTCCAGTGTG	0.647																																						dbGAP											0			11											126	154	145					11																	1269769		2120	4214	6334	1226345	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11659C>A	11.37:g.1269769C>A	ENSP00000436812:p.Pro3887Thr	4	20	1		0	0	0	1226345	8	60	12	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL	p.P3890T	ENST00000529681.1	37	c.11668	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	3.256	-0.152126	0.06585	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.33438	1.41;1.58	2.34	1.31	0.21738	.	.	.	.	.	T	0.15696	0.0378	N	0.11560	0.145	0.09310	N	1	B;B	0.22983	0.078;0.044	B;B	0.20384	0.025;0.029	T	0.22626	-1.0211	9	0.87932	D	0	.	6.3541	0.21393	0.2942:0.7058:0.0:0.0	.	4415;3890	A7Y9J9;E9PBJ0	.;.	T	3887;3890;3831;3792	ENSP00000436812:P3887T;ENSP00000415793:P3890T	ENSP00000343037:P3831T	P	+	1	0	MUC5B	1226345	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.285000	0.02791	0.235000	0.21160	0.194000	0.17425	CCT	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1226345	1	no_errors	NM_002458.1	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	1269769	C	A	1269769	3	1	172	1	0	0	0	0	1	0	0	0	9979	739	26	4	11790	4	MUC5B	11	1269769	Missense_Mutation	SNP	C	TCGA-AB-2988-03A-01D-0739-09		1269769	133736747	7	1928											
MUC5B	727897	genome.wustl.edu	37	11	1272152	1272152	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr11:1272152C>T	ENST00000529681.1	+	31	14100	c.14042C>T	c.(14041-14043)aCc>aTc	p.T4681I	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4684I|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4681	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ccatcactgaccaccacggcc	0.622																																						dbGAP											0			11											60	84	76					11																	1272152		1982	4091	6073	1228728	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14042C>T	11.37:g.1272152C>T	ENSP00000436812:p.Thr4681Ile	3	0	0		0	0	0	1228728	0	100	1	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL	p.T4684I	ENST00000529681.1	37	c.14051	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	3.830	-0.035905	0.07497	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000535652	T;T	0.18174	2.23;2.42	1.71	1.71	0.24356	.	.	.	.	.	T	0.15262	0.0368	L	0.43152	1.355	0.09310	N	1	B	0.17465	0.022	B	0.19148	0.024	T	0.23154	-1.0196	9	0.87932	D	0	.	8.52	0.33270	0.0:1.0:0.0:0.0	.	4684	E9PBJ0	.	I	4681;4684;4625;454	ENSP00000436812:T4681I;ENSP00000415793:T4684I	ENSP00000343037:T4625I	T	+	2	0	MUC5B	1228728	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-0.860000	0.04272	0.945000	0.37605	0.194000	0.17425	ACC	-	NULL		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1228728	1	no_errors	NM_002458.1	genbank	human	validated	54_36p	missense	SNP	0.023	T	T	1272152	C	T	1272152	3	4	172	1	0	0	0	0	1	0	0	0	9979	507	18	2	14173	2	MUC5B	11	1272152	Missense_Mutation	SNP	C	TCGA-AB-2988-03A-01D-0739-09	2383	1272152	133734364	8	1929											
SCEL	8796	genome.wustl.edu	37	13	78216863	78216863	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr13:78216863T>C	ENST00000349847.3	+	32	2054	c.1970T>C	c.(1969-1971)tTg>tCg	p.L657S	SCEL_ENST00000535157.1_Missense_Mutation_p.L615S|SCEL_ENST00000377246.3_Missense_Mutation_p.L637S	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	657	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.L657S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		AAGCAGCCTTTGGAAAATCTA	0.328																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											95	95	95					13																	78216863		2202	4298	6500	77114864	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.1970T>C	13.37:g.78216863T>C	ENSP00000302579:p.Leu657Ser	467	3.51	17		0	0	0	77114864	72	86.18	449	B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1	p.L657S	ENST00000349847.3	37	c.1970	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273450	0.80580	.	.	ENSG00000136155	ENST00000535157;ENST00000377246;ENST00000349847	D;D;D	0.83419	-1.72;-1.72;-1.72	5.81	5.81	0.92471	Zinc finger, LIM-type (4);	0.000000	0.46145	D	0.000312	D	0.91784	0.7401	M	0.84433	2.695	0.45791	D	0.998674	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92976	0.6402	10	0.87932	D	0	-5.2266	15.1388	0.72595	0.0:0.0:0.0:1.0	.	615;637;657	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	S	615;637;657	ENSP00000437895:L615S;ENSP00000366454:L637S;ENSP00000302579:L657S	ENSP00000302579:L657S	L	+	2	0	SCEL	77114864	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.113000	0.71553	2.210000	0.71456	0.533000	0.62120	TTG	-	HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1		0.328	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	protein_coding	OTTHUMT00000045339.2	T	NM_144777		77114864	1	no_errors	NM_144777.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	78216863	T	C	78216863	3	2	172	1	0	0	0	0	1	0	0	0	13888	1821	63	3	2092	3	SCEL	13	78216863	Missense_Mutation	SNP	T	TCGA-AB-2988-03A-01D-0739-09		78216863	36953015	9	1930											
ANG	283	genome.wustl.edu	37	14	21161742	21161742	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr14:21161742G>A	ENST00000336811.6	+	2	619	c.19G>A	c.(19-21)Gtt>Att	p.V7I	RNASE4_ENST00000304704.4_5'UTR|ANG_ENST00000554073.1_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.V7I|RNASE4_ENST00000397995.2_Intron|AL163636.6_ENST00000553909.1_Missense_Mutation_p.V7I|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000555835.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	7					actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)	p.V7I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		GGGCCTGGGCGTTTTGTTGTT	0.552																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	14											215	212	213					14																	21161742		2203	4300	6503	20231582	SO:0001583	missense	0				CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"Ribonucleases, RNase A"	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.19G>A	14.37:g.21161742G>A	ENSP00000336762:p.Val7Ile	551	0.9	5		0	0	0	20231582	346	47.43	314	Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Missense_Mutation	SNP	HMMPfam_RnaseA,HMMSmart_SM00092,PatternScan_RNASE_PANCREATIC,superfamily_RNase A-like	p.V7I	ENST00000336811.6	37	c.19	CCDS9554.1	14	.	.	.	.	.	.	.	.	.	.	G	1.691	-0.504119	0.04261	.	.	ENSG00000214274	ENST00000336811;ENST00000397990	D;D	0.86769	-2.17;-2.17	4.43	2.61	0.31194	.	455.507000	0.01440	U	0.015057	T	0.77942	0.4206	N	0.19112	0.55	0.09310	N	1	B	0.23591	0.088	B	0.14578	0.011	T	0.62891	-0.6758	10	0.17369	T	0.5	.	6.2192	0.20671	0.0:0.7086:0.1889:0.1025	.	7	P03950	ANGI_HUMAN	I	7	ENSP00000336762:V7I;ENSP00000381077:V7I	ENSP00000336762:V7I	V	+	1	0	ANG	20231582	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.142000	0.16096	0.496000	0.27904	-0.203000	0.12734	GTT	-	NULL		0.552	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANG	protein_coding	OTTHUMT00000073731.3	G	NM_001097577		20231582	1	no_errors	NM_001097577.2	genbank	human	reviewed	54_36p	missense	SNP	0.001	A	A	21161742	G	A	21161742	3	1	172	1	0	0	0	0	1	0	0	0	607	1145	40	1	21	1	ANG	14	21161742	Missense_Mutation	SNP	G	TCGA-AB-2988-03A-01D-0739-09		21161742	86187798	10	1931											
SPTBN5	51332	genome.wustl.edu	37	15	42168393	42168393	+	Silent	SNP	G	G	A			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr15:42168393G>A	ENST00000320955.6	-	21	4268	c.4041C>T	c.(4039-4041)aaC>aaT	p.N1347N		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1347					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.N1347N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCTGCAGGATGTTTCTGCGCG	0.627																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15											50	55	53					15																	42168393		2149	4269	6418	39955685	SO:0001819	synonymous_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"beta V spectrin"	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4041C>T	15.37:g.42168393G>A		194	3.48	7		0	0	0	39955685	105	49.28	102		Silent	SNP	PatternScan_ACTININ_1,PatternScan_ACTININ_2,HMMPfam_CH,HMMSmart_SM00033,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Spectrin,superfamily_Calponin-homology domain CH-domain,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_PH domain-like	p.N1347	ENST00000320955.6	37	c.4041		15																																																																																			-	HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat		0.627	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	protein_coding	OTTHUMT00000420237.1	G	NM_016642		39955685	-1	no_errors	NM_016642.2	genbank	human	validated	54_36p	silent	SNP	0.001	A	A	42168393	G	A	42168393	2	1	172	1	0	0	0	0	0	0	0	1	15121	1368	48	2		2	SPTBN5	15	42168393	Silent	SNP	G	TCGA-AB-2988-03A-01D-0739-09		42168393	60362999	11	1932											
ABCA10	10349	genome.wustl.edu	37	17	67170917	67170917	+	Splice_Site	SNP	T	T	C			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr17:67170917T>C	ENST00000269081.4	-	25	3788	c.2879A>G	c.(2878-2880)aAa>aGa	p.K960R	ABCA10_ENST00000519732.1_Intron|ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	960					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K960R(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGAACATTTTTCTGACAAAG	0.348																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											52	58	56					17																	67170917		2198	4294	6492	64682512	SO:0001630	splice_region_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"ATP binding cassette transporters / subfamily A"	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2878-1A>G	17.37:g.67170917T>C		461	1.5	7		0	0	0	64682512	363	45.66	305	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	HMMPfam_ABC_tran,HMMSmart_SM00382,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.K960R	ENST00000269081.4	37	c.2879	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	T	0.103	-1.148741	0.01714	.	.	ENSG00000154263	ENST00000269081	D	0.87179	-2.22	3.06	-1.36	0.09085	.	.	.	.	.	T	0.73869	0.3642	L	0.33339	1.005	0.58432	D	0.999997	B	0.17038	0.02	B	0.21151	0.033	T	0.55585	-0.8118	9	0.13470	T	0.59	.	3.9893	0.09530	0.5774:0.1298:0.0:0.2928	.	960	Q8WWZ4	ABCAA_HUMAN	R	960	ENSP00000269081:K960R	ENSP00000269081:K960R	K	-	2	0	ABCA10	64682512	0.007000	0.16637	0.006000	0.13384	0.216000	0.24613	-0.235000	0.09016	-0.094000	0.12374	-0.534000	0.04291	AAA	-	NULL		0.348	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	protein_coding	OTTHUMT00000379881.4	T	NM_080282	Missense_Mutation	64682512	-1	no_errors	NM_080282.3	genbank	human	reviewed	54_36p	missense	SNP	0.597	C	C	67170917	T	C	67170917	5	2	172	1	0	0	0	0	0	0	1	0	29	1855	64	3	1816	3	ABCA10	17	67170917	Splice_Site	SNP	T	TCGA-AB-2988-03A-01D-0739-09		67170917	14024293	12	1933											
MYH14	79784	genome.wustl.edu	37	19	50783384	50783384	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr19:50783384C>G	ENST00000596571.1	+	28	4000	c.4000C>G	c.(4000-4002)Ctg>Gtg	p.L1334V	MYH14_ENST00000440075.2_Missense_Mutation_p.L1375V|MYH14_ENST00000376970.2_Missense_Mutation_p.L1367V|MYH14_ENST00000601313.1_Missense_Mutation_p.L1375V|MYH14_ENST00000425460.1_Missense_Mutation_p.L1342V|MYH14_ENST00000598205.1_Missense_Mutation_p.L1342V|MYH14_ENST00000262269.8_Missense_Mutation_p.L1375V			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1334					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1375V(1)|p.L1334V(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGAAGCCCAGCTGCACGATGC	0.607																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	19											55	63	60					19																	50783384		2190	4286	6476	55475196	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"Myosins / Myosin superfamily : Class II"	23212	protein-coding gene	gene with protein product		608568	"myosin, heavy polypeptide 14", "myosin, heavy chain 14"	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4000C>G	19.37:g.50783384C>G	ENSP00000472819:p.Leu1334Val	896	3.34	31		0	0	0	55475196	317	47.95	293	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L1342V	ENST00000596571.1	37	c.4024	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	C	14.70	2.615056	0.46631	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	3.38	3.38	0.38709	Myosin tail (1);	.	.	.	.	D	0.85881	0.5800	L	0.53561	1.675	0.49798	D	0.999826	P;P;P	0.41214	0.697;0.742;0.697	P;P;B	0.48982	0.462;0.597;0.263	D	0.86306	0.1683	9	0.51188	T	0.08	.	12.6516	0.56764	0.0:1.0:0.0:0.0	.	1375;1334;1342	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	V	1334;1375;1367;1342;1375	ENSP00000406273:L1375V;ENSP00000366169:L1367V;ENSP00000407879:L1342V;ENSP00000262269:L1375V	ENSP00000262269:L1375V	L	+	1	2	MYH14	55475196	1.000000	0.71417	0.995000	0.50966	0.276000	0.26787	2.762000	0.47597	1.922000	0.55676	0.455000	0.32223	CTG	-	HMMPfam_Myosin_tail_1		0.607	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	C	NM_024729		55475196	1	no_errors	NM_001077186.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	50783384	C	G	50783384	3	3	172	1	0	0	0	0	1	0	0	0	10033	796	28	4	4241	4	MYH14	19	50783384	Missense_Mutation	SNP	C	TCGA-AB-2988-03A-01D-0739-09		50783384	8345599	13	1934											
CDH4	1002	genome.wustl.edu	37	20	60318829	60318829	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chr20:60318829C>T	ENST00000360469.5	+	3	468	c.380C>T	c.(379-381)cCg>cTg	p.P127L	CDH4_ENST00000543233.1_Missense_Mutation_p.P53L|RP11-429E11.2_ENST00000442888.1_RNA|RP11-429E11.2_ENST00000447909.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	127					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P127L(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCTCGTCCCCGCACTCTGGA	0.647																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20											49	40	43					20																	60318829		2198	4300	6498	59752224	SO:0001583	missense	0			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"Cadherins / Major cadherins"	1763	protein-coding gene	gene with protein product	"R-Cadherin"	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.380C>T	20.37:g.60318829C>T	ENSP00000353656:p.Pro127Leu	289	2.03	6		0	0	0	59752224	131	48.02	121	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_pro,superfamily_Cadherin	p.P127L	ENST00000360469.5	37	c.380	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	0.781	-0.762464	0.02996	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.58	5.0	0.878	0.19150	Cadherin-like (1);	2.397720	0.01789	N	0.032194	T	0.31606	0.0802	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12889	-1.0530	9	.	.	.	.	5.3138	0.15845	0.2004:0.482:0.0:0.3176	.	127	P55283	CADH4_HUMAN	L	127;35;53	ENSP00000353656:P127L;ENSP00000443301:P53L	.	P	+	2	0	CDH4	59752224	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	0.554000	0.23407	-0.061000	0.13110	-1.579000	0.00862	CCG	-	superfamily_Cadherin		0.647	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	C	NM_001794		59752224	1	no_errors	NM_001794.2	genbank	human	reviewed	54_36p	missense	SNP	0.000	T	T	60318829	C	T	60318829	3	4	172	1	0	0	0	0	1	0	0	0	3112	652	23	1	390	1	CDH4	20	60318829	Missense_Mutation	SNP	C	TCGA-AB-2988-03A-01D-0739-09		60318829	2706691	14	1935											
TKTL1	8277	genome.wustl.edu	37	X	153557894	153557894	+	Silent	SNP	C	C	T	rs368262386		TCGA-AB-2988-03A-01D-0739-09	TCGA-AB-2988-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	c46cad3f-6265-4baf-9ee9-fa7394a27373	fe6bea4d-e433-4977-ab67-b7aa610de359	g.chrX:153557894C>T	ENST00000369915.3	+	13	1836	c.1647C>T	c.(1645-1647)gcC>gcT	p.A549A	TKTL1_ENST00000369912.2_Silent_p.A493A|TKTL1_ENST00000217905.7_Silent_p.A289A	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	549					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)	p.A549A(1)		NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGCGCAGCCGTCTCCATGG	0.542																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X						C	,,	1,3834		0,1,1631,571	132	121	125		1629,1479,1647	-7.2	0	X		125	0,6728		0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	TKTL1	NM_001145933.1,NM_001145934.1,NM_012253.3	,,	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	,,	543/591,493/541,549/597	153557894	1,10562	2203	4300	6503	153211088	SO:0001819	synonymous_variant	0			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.1647C>T	X.37:g.153557894C>T		602	2.75	17		0	0	0	153211088	308	41.11	215	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	HMMPfam_Transketolase_N,HMMPfam_Transket_pyr,PatternScan_TRANSKETOLASE_2,HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like,superfamily_Thiamin diphosphate-binding fold (THDP-binding)	p.A549	ENST00000369915.3	37	c.1647	CCDS35448.1	X																																																																																			-	HMMPfam_Transketolase_C,superfamily_TK C-terminal domain-like		0.542	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	protein_coding	OTTHUMT00000058923.1	C	NM_012253		153211088	1	no_errors	NM_012253.1	genbank	human	validated	54_36p	silent	SNP	0.915	T	T	153557894	C	T	153557894	2	4	172	1	0	0	0	0	0	0	0	1	15932	639	23	1		1	TKTL1	23	153557894	Silent	SNP	C	TCGA-AB-2988-03A-01D-0739-09		153557894	1712666	15	1936											
RAB25	57111	genome.wustl.edu	37	1	156035781	156035781	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr1:156035781C>A	ENST00000361084.5	+	2	364	c.123C>A	c.(121-123)agC>agA	p.S41R	RAB25_ENST00000487325.1_Intron	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	41					positive regulation of cell proliferation (GO:0008284)|protein transport (GO:0015031)|pseudopodium organization (GO:0031268)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	GTP binding (GO:0005525)|myosin V binding (GO:0031489)	p.S45R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCACGACAGCCGCACCACCA	0.587																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											66	73	71					1																	156035781		2163	4268	6431	154302405	SO:0001583	missense	0			AF083124	CCDS41413.1	1q22	2008-07-03			ENSG00000132698	ENSG00000132698		"RAB, member RAS oncogene"	18238	protein-coding gene	gene with protein product		612942				11697911	Standard	NM_020387		Approved	CATX-8	uc001fnc.3	P57735	OTTHUMG00000017457	ENST00000361084.5:c.123C>A	1.37:g.156035781C>A	ENSP00000354376:p.Ser41Arg	718	1.78	13					154302405	245	42.22	179	Q5VYA2|Q8NG24|Q96GB1|Q9BT12	Missense_Mutation	SNP	HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540	p.S41R	ENST00000361084.5	37	c.123	CCDS41413.1	1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434751	0.83885	.	.	ENSG00000132698	ENST00000361084	T	0.79554	-1.28	5.54	2.43	0.29744	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81498	0.4835	L	0.55103	1.725	0.51012	D	0.999904	D	0.89917	1.0	D	0.80764	0.994	T	0.83025	-0.0165	10	0.87932	D	0	.	10.8459	0.46743	0.0:0.7572:0.0:0.2428	.	41	P57735	RAB25_HUMAN	R	41	ENSP00000354376:S41R	ENSP00000354376:S41R	S	+	3	2	RAB25	154302405	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	3.801000	0.55545	0.871000	0.35750	0.655000	0.94253	AGC	-	HMMSmart_RAB,HMMPfam_Ras,superfamily_SSF52540		0.587	RAB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB25	protein_coding	OTTHUMT00000046185.1	C			154302405	1	no_errors	NM_020387.2	genbank	human	provisional	54_36p	missense	SNP	0.993	A	A	156035781	C	A	156035781	3	1	173	1	0	0	0	0	1	0	0	0	12912	738	26	4	129	4	RAB25	1	156035781	Missense_Mutation	SNP	C	TCGA-AB-2989-03A-01D-0739-09		156035781	93214840	1	1937											
MAGI1	9223	genome.wustl.edu	37	3	65416493	65416493	+	Missense_Mutation	SNP	C	C	T	rs375653415		TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr3:65416493C>T	ENST00000497477.2	-	11	1426	c.1427G>A	c.(1426-1428)cGg>cAg	p.R476Q	MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Missense_Mutation_p.R476Q|MAGI1_ENST00000402939.2_Missense_Mutation_p.R476Q|MAGI1_ENST00000483466.1_Missense_Mutation_p.R476Q			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	476	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)	p.R476Q(4)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACTGCTTTTCCGCAGCTTTGT	0.463																																						dbGAP											4	Substitution - Missense(4)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	3						C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	143	124	130		1427,1427,1427	5.7	1	3		130	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MAGI1	NM_001033057.1,NM_004742.2,NM_015520.1	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	476/1463,476/1257,476/1288	65416493	1,13005	2203	4300	6503	65391533	SO:0001583	missense	0			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"BAI1-associated protein 1"	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.1427G>A	3.37:g.65416493C>T	ENSP00000424369:p.Arg476Gln	743	1.59	12					65391533	1076	43.88	843	A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_Guanylate_kin,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R476Q	ENST00000497477.2	37	c.1427		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.65|17.65	3.441532|3.441532	0.63067|0.63067	0.0|0.0	1.16E-4|1.16E-4	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|T;T;T;T;T;T	.|0.26067	.|1.76;1.76;1.76;1.76;1.76;1.76	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.097054	.|0.64402	.|N	.|0.000002	T|T	0.20210|0.20210	0.0486|0.0486	N|N	0.03050|0.03050	-0.425|-0.425	0.49798|0.49798	D|D	0.999825|0.999825	.|D;D;P;B;B	.|0.61697	.|0.957;0.99;0.886;0.081;0.181	.|P;P;B;B;B	.|0.52710	.|0.481;0.707;0.272;0.07;0.044	T|T	0.25745|0.25745	-1.0123|-1.0123	5|10	.|0.14656	.|T	.|0.56	-20.4479|-20.4479	19.914|19.914	0.97034|0.97034	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|476;476;476;476;476	.|Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.|.;.;.;.;.	R|Q	357|476;476;372;351;476;476;262	.|ENSP00000385450:R476Q;ENSP00000331157:R476Q;ENSP00000418177:R351Q;ENSP00000420323:R476Q;ENSP00000424369:R476Q;ENSP00000420796:R262Q	.|ENSP00000331157:R476Q	G|R	-|-	1|2	0|0	MAGI1|MAGI1	65391533|65391533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	3.492000|3.492000	0.53259|0.53259	2.712000|2.712000	0.92718|0.92718	0.557000|0.557000	0.71058|0.71058	GGA|CGG	-	HMMPfam_PDZ,superfamily_PDZ domain-like		0.463	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	protein_coding	OTTHUMT00000349132.2	C	NM_004742		65391533	-1	no_errors	NM_001033057.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	65416493	C	T	65416493	3	4	173	1	0	0	0	0	1	0	0	0	9190	652	23	1	3247	1	MAGI1	3	65416493	Missense_Mutation	SNP	C	TCGA-AB-2989-03A-01D-0739-09		65416493	132605937	2	1938											
GPBP1	65056	genome.wustl.edu	37	5	56542934	56542935	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	-	-	-	A	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr5:56542934_56542935insA	ENST00000506184.2	+	8	1801_1802	c.696_697insA	c.(697-699)aaafs	p.K233fs	GPBP1_ENST00000538707.1_Frame_Shift_Ins_p.K240fs|GPBP1_ENST00000424459.3_Frame_Shift_Ins_p.K253fs|GPBP1_ENST00000514387.2_Frame_Shift_Ins_p.K62fs|GPBP1_ENST00000264779.6_Frame_Shift_Ins_p.K240fs|GPBP1_ENST00000454432.2_Frame_Shift_Ins_p.K253fs|GPBP1_ENST00000511209.1_Frame_Shift_Ins_p.K240fs			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	233					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CAAAAGAAAATAAAGTTGGAAC	0.351																																						dbGAP											0			5																																								56578692	SO:0001589	frameshift_variant	0				CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.699dupA	5.37:g.56542937_56542937dupA	ENSP00000421202:p.Lys233fs	168	0	0					56578691	239	34.16	124	A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Frame_Shift_Ins	INS	NULL	p.V233fs	ENST00000506184.2	37	c.696_697	CCDS34162.1	5																																																																																			-	NULL		0.351	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	GPBP1	protein_coding	OTTHUMT00000374496.1	-	NM_022913		56578692	1	no_errors	NM_022913.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	A	A	56542935	-	A	56542934	7	5	173	1	0	1	1	0	0	0	0	0	6595	1403	49	0	743	0	GPBP1	5	56542934	Frame_Shift_Ins	INS	-	TCGA-AB-2989-03A-01D-0739-09		56542934	124372326	3	1939											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCAG			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	-	-	-	TCAG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr5:170837547_170837548insTCAG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCAG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insTCAG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCAG	TCAG	170837548	-	TCAG	170837547	7	5	173	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2989-03A-01D-0739-09	114294613	170837547	10077713	4	1940											
PDK4	5166	genome.wustl.edu	37	7	95217098	95217098	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr7:95217098G>A	ENST00000005178.5	-	8	1008	c.811C>T	c.(811-813)Cct>Tct	p.P271S		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	271	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)	p.P271S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			GTAAGGGAAGGCTGATTTTCC	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											84	81	82					7																	95217098		2203	4300	6503	95055034	SO:0001583	missense	0			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"pyruvate dehydrogenase kinase, isoenzyme 4"			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.811C>T	7.37:g.95217098G>A	ENSP00000005178:p.Pro271Ser	384	3.76	15					95055034	571	42.63	425		Missense_Mutation	SNP	HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase,HMMPfam_BCDHK_Adom3,superfamily_alpha-ketoacid dehydrogenase kinase N-terminal domain	p.P271S	ENST00000005178.5	37	c.811	CCDS5643.1	7	.	.	.	.	.	.	.	.	.	.	G	0.251	-1.006547	0.02112	.	.	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.32988	1.43	5.61	4.73	0.59995	Signal transduction histidine kinase, core (1);ATPase-like, ATP-binding domain (4);	0.155147	0.64402	D	0.000015	T	0.14442	0.0349	N	0.04320	-0.23	0.28606	N	0.908906	B	0.02656	0.0	B	0.04013	0.001	T	0.12941	-1.0528	10	0.15499	T	0.54	.	13.0301	0.58837	0.0746:0.0:0.9254:0.0	.	271	Q16654	PDK4_HUMAN	S	271;235	ENSP00000005178:P271S	ENSP00000005178:P271S	P	-	1	0	PDK4	95055034	0.031000	0.19500	0.868000	0.34077	0.137000	0.21094	0.630000	0.24553	1.517000	0.48917	0.591000	0.81541	CCT	-	HMMPfam_HATPase_c,HMMSmart_SM00387,superfamily_ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase		0.398	PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDK4	protein_coding	OTTHUMT00000333298.1	G	NM_002612		95055034	-1	no_errors	NM_002612.3	genbank	human	reviewed	54_36p	missense	SNP	0.859	A	A	95217098	G	A	95217098	3	1	173	1	0	0	0	0	1	0	0	0	11678	1203	42	2	440	2	PDK4	7	95217098	Missense_Mutation	SNP	G	TCGA-AB-2989-03A-01D-0739-09		95217098	63921565	5	1941											
WT1	7490	genome.wustl.edu	37	11	32417846	32417847	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	AT	AT	AT	-	AT	AT	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr11:32417846_32417847delAT	ENST00000379079.2	-	7	842_843	c.569_570delAT	c.(568-570)tatfs	p.Y190fs	WT1_ENST00000332351.3_Frame_Shift_Del_p.Y402fs|WT1_ENST00000530998.1_Frame_Shift_Del_p.Y173fs|WT1_ENST00000448076.3_Frame_Shift_Del_p.Y402fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	334					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Y334fs*1(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			ACAGCTTAAAATATCTCTTATT	0.53			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	11																																								32374423	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.569_570delAT	11.37:g.32417848_32417849delAT	ENSP00000368370:p.Tyr190fs	0	1.6	6					32374422	0	35.2	170	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Del	DEL	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.Y402fs	ENST00000379079.2	37	c.1206_1205	CCDS55751.1	11																																																																																			-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.53	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	AT	NM_000378		32374423	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000	-	-	32417847	AT	-	32417846	7	5	173	1	0	1	0	1	0	0	0	0	17405	108	4	0	363	0	WT1	11	32417846	Frame_Shift_Del	DEL	AT	TCGA-AB-2989-03A-01D-0739-09		32417846	102588670	6	1942											
CBL	867	genome.wustl.edu	37	11	119148880	119148880	+	Missense_Mutation	SNP	A	A	G	rs267606704		TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr11:119148880A>G	ENST00000264033.4	+	8	1476	c.1100A>G	c.(1099-1101)cAa>cGa	p.Q367R		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	367	Asp/Glu-rich (acidic).|Linker.		Q -> P (in NSLL; causes impaired CBL- mediated degradation of cell-surface receptors in a dominant-negative fashion). {ECO:0000269|PubMed:20619386}.		cell surface receptor signaling pathway (GO:0007166)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|flotillin complex (GO:0016600)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ephrin receptor binding (GO:0046875)|ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E366_Q409del(13)|p.?(3)|p.Q367R(2)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		TCAAAGGAACAATATGAATTA	0.299			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies																													dbGAP		"Dom, Rec"	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	19	Deletion - In frame(14)|Unknown(3)|Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(19)	11											43	43	43					11																	119148880		2199	4295	6494	118654090	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395		"RING-type (C3HC4) zinc fingers"	1541	protein-coding gene	gene with protein product	"oncogene CBL2"	165360	"Cas-Br-M (murine) ecotropic retroviral transforming sequence"	CBL2		2013228	Standard	NM_005188		Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1100A>G	11.37:g.119148880A>G	ENSP00000264033:p.Gln367Arg	138	1.43	2					118654090	86	70.75	208	A3KMP8	Missense_Mutation	SNP	HMMPfam_UBA,HMMSmart_RING,HMMPfam_Cbl_N,superfamily_Adaptor_Cbl_N,HMMPfam_Cbl_N2,HMMPfam_Cbl_N3,HMMSmart_UBA,PatternScan_ZF_RING_1,HMMPfam_zf-C3HC4,superfamily_SSF47473,superfamily_SSF55550,superfamily_SSF57850	p.Q367R	ENST00000264033.4	37	c.1100	CCDS8418.1	11	.	.	.	.	.	.	.	.	.	.	A	16.03	3.006685	0.54361	.	.	ENSG00000110395	ENST00000264033	D	0.95588	-3.75	5.65	4.51	0.55191	SH2 motif (1);	0.000000	0.85682	D	0.000000	D	0.97201	0.9085	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	D	0.97332	0.9951	10	0.87932	D	0	-42.9612	13.1617	0.59548	0.8665:0.1334:0.0:0.0	.	367	P22681	CBL_HUMAN	R	367	ENSP00000264033:Q367R	ENSP00000264033:Q367R	Q	+	2	0	CBL	118654090	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.910000	0.92685	1.058000	0.40530	-0.323000	0.08544	CAA	-	superfamily_SSF57850		0.299	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBL	protein_coding	OTTHUMT00000388219.4	A	NM_005188		118654090	1	no_errors	NM_005188.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	119148880	A	G	119148880	3	3	173	1	0	0	0	0	1	0	0	0	2700	130	5	3	1130	3	CBL	11	119148880	Missense_Mutation	SNP	A	TCGA-AB-2989-03A-01D-0739-09	86731034	119148880	15857636	7	1943											
GABRG3	2567	genome.wustl.edu	37	15	27772760	27772760	+	Silent	SNP	G	G	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr15:27772760G>A	ENST00000333743.6	+	8	1301	c.1047G>A	c.(1045-1047)acG>acA	p.T349T	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	349					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.T349T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAACCACCACGAAGAAGACAA	0.493																																					NSCLC(114;800 1656 7410 37729 45293)	dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15											55	49	51					15																	27772760		2033	4189	6222	25446355	SO:0001819	synonymous_variant	0				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4088	protein-coding gene	gene with protein product	"GABA(G) receptor, gamma 3"	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1047G>A	15.37:g.27772760G>A		892	3.14	29					25446355	989	45.69	833	G3V594|Q9HD46|Q9NYT2	Silent	SNP	HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_LBD,superfamily_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL	p.T349	ENST00000333743.6	37	c.1047	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	G	3.474	-0.107251	0.06924	.	.	ENSG00000182256	ENST00000451330	.	.	.	5.35	-10.7	0.00240	.	.	.	.	.	T	0.34250	0.0891	.	.	.	0.49798	D	0.999822	.	.	.	.	.	.	T	0.52815	-0.8525	4	.	.	.	.	2.9322	0.05803	0.1844:0.3012:0.3602:0.1542	.	.	.	.	Q	112	.	.	R	+	2	0	GABRG3	25446355	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	-1.270000	0.02831	-4.266000	0.00060	-2.102000	0.00361	CGA	-	HMMPfam_Neur_chan_memb,superfamily_Neu_channel_TM		0.493	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	protein_coding	OTTHUMT00000103584.2	G			25446355	1	no_errors	ENST00000333743	ensembl	human	known	54_36p	silent	SNP	0.011	A	A	27772760	G	A	27772760	2	1	173	1	0	0	0	0	0	0	0	1	6173	1045	37	1		1	GABRG3	15	27772760	Silent	SNP	G	TCGA-AB-2989-03A-01D-0739-09		27772760	74758632	8	1944											
DLX3	1747	genome.wustl.edu	37	17	48068899	48068899	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr17:48068899G>T	ENST00000434704.2	-	3	1071	c.846C>A	c.(844-846)aaC>aaA	p.N282K	DLX3_ENST00000512495.2_Missense_Mutation_p.N162K	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	282					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N282K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CAGCCCCAGGGTTGGGCGGGG	0.642																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											15	17	16					17																	48068899		2191	4286	6477	45423898	SO:0001583	missense	0				CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"Homeoboxes / ANTP class : NKL subclass"	2916	protein-coding gene	gene with protein product		600525	"distal-less homeo box 3"			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.846C>A	17.37:g.48068899G>T	ENSP00000389870:p.Asn282Lys	585	2.01	12					45423898	206	41.36	146	B3KQL6	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like,PatternScan_HOMEOBOX_1	p.N282K	ENST00000434704.2	37	c.846	CCDS11556.1	17	.	.	.	.	.	.	.	.	.	.	G	7.416	0.635713	0.14322	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.90444	-2.59;-2.67	4.76	2.63	0.31362	.	0.160733	0.53938	D	0.000048	T	0.80623	0.4658	N	0.19112	0.55	0.39787	D	0.972388	B	0.02656	0.0	B	0.04013	0.001	T	0.75731	-0.3215	10	0.59425	D	0.04	-27.5001	5.8474	0.18673	0.2408:0.0:0.7592:0.0	.	282	O60479	DLX3_HUMAN	K	282;162	ENSP00000389870:N282K;ENSP00000449976:N162K	ENSP00000389870:N282K	N	-	3	2	DLX3	45423898	1.000000	0.71417	1.000000	0.80357	0.186000	0.23388	0.841000	0.27613	1.245000	0.43885	0.556000	0.70494	AAC	-	NULL		0.642	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX3	protein_coding	OTTHUMT00000366307.1	G			45423898	-1	no_errors	NM_005220.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	48068899	G	T	48068899	3	4	173	1	0	0	0	0	1	0	0	0	4572	1252	44	4	21	4	DLX3	17	48068899	Missense_Mutation	SNP	G	TCGA-AB-2989-03A-01D-0739-09		48068899	33126311	9	1945											
SUPT5H	6829	genome.wustl.edu	37	19	39949653	39949653	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr19:39949653G>C	ENST00000599117.1	+	8	765	c.398G>C	c.(397-399)cGa>cCa	p.R133P	SUPT5H_ENST00000432763.2_Missense_Mutation_p.R133P|SUPT5H_ENST00000598725.1_Missense_Mutation_p.R133P|SUPT5H_ENST00000359191.6_Missense_Mutation_p.R129P|SUPT5H_ENST00000402194.2_Missense_Mutation_p.R129P			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	133					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.R133P(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGACCAGCGAGAAGAAGAA	0.567																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											122	112	116					19																	39949653		2203	4300	6503	44641493	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"suppressor of Ty (S.cerevisiae) 5 homolog"			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.398G>C	19.37:g.39949653G>C	ENSP00000470252:p.Arg133Pro	1241	3.5	45					44641493	783	39.83	521	O43279|Q59G52|Q99639	Missense_Mutation	SNP	HMMPfam_Supt5,HMMPfam_KOW,HMMSmart_SM00739,HMMSmart_SM00738,superfamily_Translation proteins SH3-like domain	p.R133P	ENST00000599117.1	37	c.398	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820968	0.90873	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	4.48	4.48	0.54585	Spt5 transcription elongation factor, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60996	0.2312	L	0.40543	1.245	0.80722	D	1	P;D	0.53462	0.951;0.96	P;P	0.53861	0.617;0.736	T	0.59016	-0.7533	8	.	.	.	-6.0125	16.4662	0.84079	0.0:0.0:1.0:0.0	.	129;133	O00267-2;O00267	.;SPT5H_HUMAN	P	133;129;111;133	.	.	R	+	2	0	SUPT5H	44641493	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.600000	0.98282	2.507000	0.84556	0.650000	0.86243	CGA	-	NULL		0.567	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	protein_coding	OTTHUMT00000464918.1	G	NM_003169		44641493	1	no_errors	NM_003169.2	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	39949653	G	C	39949653	3	2	173	1	0	0	0	0	1	0	0	0	15396	1058	37	4	420	4	SUPT5H	19	39949653	Missense_Mutation	SNP	G	TCGA-AB-2989-03A-01D-0739-09		39949653	19179330	10	1946											
HNRNPUL1	11100	genome.wustl.edu	37	19	41787083	41787083	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr19:41787083C>T	ENST00000392006.3	+	7	1075	c.902C>T	c.(901-903)tCc>tTc	p.S301F	HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.S201F|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.S212F|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.S301F|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.S201F|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.S201F	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	301	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.S301F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GAGCCTTTCTCCTATGGCTAT	0.478																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											90	73	78					19																	41787083		2203	4300	6503	46478923	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"E1B 55kDa associated protein 5"	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.902C>T	19.37:g.41787083C>T	ENSP00000375863:p.Ser301Phe	516	1.15	6					46478923	537	44.42	430	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	HMMPfam_SAP,HMMSmart_SM00513,HMMPfam_SPRY,HMMSmart_SM00449,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_SAP domain	p.S301F	ENST00000392006.3	37	c.902	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.082914	0.94050	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000263367	T;T;T	0.79554	-1.28;-1.28;-1.28	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.93213	0.7838	H	0.95574	3.69	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0	D	0.94560	0.7761	10	0.87932	D	0	-19.6269	18.9646	0.92691	0.0:1.0:0.0:0.0	.	212;201;301;301;201	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2;Q9BUJ2-4	.;.;.;HNRL1_HUMAN;.	F	201;301;212	ENSP00000340857:S201F;ENSP00000375863:S301F;ENSP00000263367:S212F	ENSP00000263367:S212F	S	+	2	0	HNRNPUL1	46478923	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.385000	0.79763	2.771000	0.95319	0.563000	0.77884	TCC	-	HMMPfam_SPRY,HMMSmart_SM00449		0.478	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	protein_coding	OTTHUMT00000463406.1	C	NM_144732, NM_007040		46478923	1	no_errors	NM_007040.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	41787083	C	T	41787083	3	4	173	1	0	0	0	0	1	0	0	0	7274	855	30	2	928	2	HNRNPUL1	19	41787083	Missense_Mutation	SNP	C	TCGA-AB-2989-03A-01D-0739-09	1837430	41787083	17341900	11	1947											
TRPC4AP	26133	genome.wustl.edu	37	20	33680571	33680571	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2989-03A-01D-0739-09	TCGA-AB-2989-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	b385b03f-4ee1-4be9-9291-9b5fdfd66384	baa70711-9504-4ebc-8e86-a870629d4161	g.chr20:33680571G>A	ENST00000252015.2	-	1	103	c.14C>T	c.(13-15)cCg>cTg	p.P5L	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.P5L|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.P5L			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	5	Interaction with TNFRSF1A. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.P5L(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGCCGCTACCGGCGCCGCCGC	0.741																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20											4	6	5					20																	33680571		1149	2735	3884	33144232	SO:0001583	missense	0			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 158"	608430	"chromosome 20 open reading frame 188"	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.14C>T	20.37:g.33680571G>A	ENSP00000252015:p.Pro5Leu	129	0.76	1					33144232	77	43.75	63	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	NULL	p.P5L	ENST00000252015.2	37	c.14	CCDS13246.1	20	.	.	.	.	.	.	.	.	.	.	G	13.68	2.309780	0.40895	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000432634;ENST00000541994	.	.	.	4.11	3.13	0.36017	.	0.472364	0.22735	N	0.056280	T	0.41581	0.1165	N	0.19112	0.55	0.80722	D	1	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.15052	0.012;0.012;0.012	T	0.40627	-0.9553	9	0.87932	D	0	.	11.0681	0.47987	0.0:0.0:0.8136:0.1864	.	5;5;5	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	L	5	.	ENSP00000252015:P5L	P	-	2	0	TRPC4AP	33144232	1.000000	0.71417	0.998000	0.56505	0.271000	0.26615	2.996000	0.49449	1.260000	0.44134	0.650000	0.86243	CCG	-	NULL		0.741	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC4AP	protein_coding	OTTHUMT00000078832.2	G	NM_015638		33144232	-1	no_errors	NM_015638.2	genbank	human	validated	54_36p	missense	SNP	0.997	A	A	33680571	G	A	33680571	3	1	173	1	0	0	0	0	1	0	0	0	16578	1116	39	1	2455	1	TRPC4AP	20	33680571	Missense_Mutation	SNP	G	TCGA-AB-2989-03A-01D-0739-09		33680571	29344949	12	1948											
SOS1	6654	genome.wustl.edu	37	2	39249914	39249914	+	Missense_Mutation	SNP	C	C	T	rs397517154		TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr2:39249914C>T	ENST00000426016.1	-	11	1741	c.1655G>A	c.(1654-1656)aGg>aAg	p.R552K	SOS1_ENST00000402219.2_Missense_Mutation_p.R552K|SOS1_ENST00000472480.1_5'Flank|SOS1_ENST00000395038.2_Missense_Mutation_p.R552K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	552			R -> G (in NS4; increases the basal level of active RAS; prolonges RAS activation after EGF stimulation and enhances ERK activation; dbSNP:rs137852814). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:17143285, ECO:0000269|PubMed:19953625, ECO:0000269|PubMed:21387466}.|R -> K (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:21387466}.|R -> M (in NS4). {ECO:0000269|PubMed:21387466}.|R -> S (in NS4). {ECO:0000269|PubMed:17143282, ECO:0000269|PubMed:21387466}.|R -> T (in NS4). {ECO:0000269|PubMed:21387466}.		apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R552K(2)|p.R552M(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATCAAGCATCCTTTCCAGTGT	0.403									Noonan syndrome																													dbGAP											3	Substitution - Missense(3)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)	2	GRCh37	CM070273	SOS1	M							156	147	150					2																	39249914		2203	4300	6503	39103418	SO:0001583	missense	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	11187	protein-coding gene	gene with protein product		182530	"gingival fibromatosis, hereditary, 1"	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1655G>A	2.37:g.39249914C>T	ENSP00000387784:p.Arg552Lys	436	6.64	31		16	36	9	39103418	630	41.01	438	A8K2G3|B4DXG2	Missense_Mutation	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_RasGEF_N,HMMSmart_SM00229,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_RasGEF,HMMSmart_SM00147,HMMPfam_Histone,superfamily_Ras GEF,superfamily_Histone-fold,PatternScan_RASGEF,superfamily_PH domain-like	p.R552K	ENST00000426016.1	37	c.1655	CCDS1802.1	2	.	.	.	.	.	.	.	.	.	.	C	25.9	4.686644	0.88639	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.87029	-2.2;-2.2;-2.2	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.85859	2.78	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.87578	0.998;0.992	D	0.93719	0.7031	10	0.48119	T	0.1	.	20.0039	0.97428	0.0:1.0:0.0:0.0	.	284;552	F5GX06;Q07889	.;SOS1_HUMAN	K	552;552;284;552;552	ENSP00000387784:R552K;ENSP00000384675:R552K;ENSP00000378479:R552K	ENSP00000263879:R552K	R	-	2	0	SOS1	39103418	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.711000	0.84669	2.722000	0.93159	0.557000	0.71058	AGG	-	NULL		0.403	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	protein_coding	OTTHUMT00000219948.3	C	NM_005633		39103418	-1	no_errors	NM_005633.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	39249914	C	T	39249914	3	4	174	1	0	0	0	0	1	0	0	0	14936	681	24	2	2402	2	SOS1	2	39249914	Missense_Mutation	SNP	C	TCGA-AB-2990-03A-01D-0739-09		39249914	203949459	1	1949											
EPB41L5	57669	genome.wustl.edu	37	2	120849220	120849220	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr2:120849220G>A	ENST00000263713.5	+	13	1347	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	EPB41L5_ENST00000443902.2_Missense_Mutation_p.R378Q|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R378Q|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R378Q|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R378Q	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	378					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.R378Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TATTCTAGACGAACTCTACAA	0.383																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											104	90	95					2																	120849220		2203	4300	6503	120565690	SO:0001583	missense	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1133G>A	2.37:g.120849220G>A	ENSP00000263713:p.Arg378Gln	443	9.22	45		2	60	3	120565690	921	34.91	494	Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	HMMPfam_FA,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_Second domain of FERM,HMMSmart_SM00295,superfamily_PH domain-like,superfamily_Ubiquitin-like	p.R378Q	ENST00000263713.5	37	c.1133	CCDS2130.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.154222	0.94645	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4	5.82	5.82	0.92795	FERM adjacent (FA) (1);	0.000000	0.64402	D	0.000004	D	0.95004	0.8383	M	0.80028	2.48	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	P;D;D;D	0.97110	0.886;1.0;0.994;1.0	D	0.94825	0.7990	10	0.72032	D	0.01	.	20.1142	0.97922	0.0:0.0:1.0:0.0	.	378;378;378;378	Q9HCM4-3;Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;.;E41L5_HUMAN	Q	378	ENSP00000263713:R378Q;ENSP00000393856:R378Q;ENSP00000329687:R378Q;ENSP00000393722:R378Q;ENSP00000390439:R378Q	ENSP00000263713:R378Q	R	+	2	0	EPB41L5	120565690	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	9.728000	0.98792	2.765000	0.95021	0.650000	0.86243	CGA	-	HMMPfam_FA		0.383	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	protein_coding	OTTHUMT00000254230.2	G	NM_020909		120565690	1	no_errors	NM_020909.2	genbank	human	provisional	54_36p	missense	SNP	0.995	A	A	120849220	G	A	120849220	3	1	174	1	0	0	0	0	1	0	0	0	5157	1058	37	1	1179	1	EPB41L5	2	120849220	Missense_Mutation	SNP	G	TCGA-AB-2990-03A-01D-0739-09	81599306	120849220	122350153	2	1950											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly	441	10.18	50		35	50.7	36	208821358	580	41.12	405	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132G	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	209113113	G	C	209113113	3	2	174	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2990-03A-01D-0739-09	88263893	209113113	34086260	3	1951											
CADM2	253559	genome.wustl.edu	37	3	86114833	86114833	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr3:86114833C>T	ENST00000407528.2	+	9	1204	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	CADM2_ENST00000383699.3_Missense_Mutation_p.T350M|CADM2_ENST00000405615.2_Missense_Mutation_p.T383M	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	381					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.T383M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTATTTGTCACGCTGTGTTCT	0.423																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											200	171	181					3																	86114833		2203	4300	6503	86197523	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1142C>T	3.37:g.86114833C>T	ENSP00000384575:p.Thr381Met	433	7.46	35		1	0	0	86197523	428	41.45	303	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726	p.T383M	ENST00000407528.2	37	c.1148	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255425	0.39896	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.63417	1.03;-0.04;-0.03	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.61837	0.2379	N	0.04043	-0.29	0.80722	D	1	P;D;D	0.89917	0.949;1.0;1.0	P;D;D	0.87578	0.674;0.998;0.997	T	0.64385	-0.6420	10	0.22109	T	0.4	.	19.964	0.97260	0.0:1.0:0.0:0.0	.	383;350;381	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	M	350;381;383	ENSP00000373200:T350M;ENSP00000384575:T381M;ENSP00000384193:T383M	ENSP00000373200:T350M	T	+	2	0	CADM2	86197523	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	7.818000	0.86416	2.721000	0.93114	0.650000	0.86243	ACG	-	NULL		0.423	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	protein_coding	OTTHUMT00000352822.1	C	NM_153184		86197523	1	no_errors	NM_153184.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	86114833	C	T	86114833	3	4	174	1	0	0	0	0	1	0	0	0	2567	536	19	1	1247	1	CADM2	3	86114833	Missense_Mutation	SNP	C	TCGA-AB-2990-03A-01D-0739-09		86114833	111907597	4	1952											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	174	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2990-03A-01D-0739-09		170837547	10077713	5	1953											
ZNF462	58499	genome.wustl.edu	37	9	109691231	109691231	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr9:109691231C>T	ENST00000277225.5	+	3	5327	c.5038C>T	c.(5038-5040)Cgc>Tgc	p.R1680C	ZNF462_ENST00000441147.2_Missense_Mutation_p.R525C|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1680C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1680					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1680C(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGGCACTACCGCATCAAGCA	0.567																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	9											143	124	130					9																	109691231		2203	4300	6503	108731052	SO:0001583	missense	0			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"Zinc fingers, C2H2-type"	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5038C>T	9.37:g.109691231C>T	ENSP00000277225:p.Arg1680Cys	567	9.71	61					108731052	582	38.63	367	Q5T0T4|Q8N408	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24	p.R1680C	ENST00000277225.5	37	c.5038	CCDS35096.1	9	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879503	0.72294	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.11604	2.76;3.2;3.15;3.21	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01198	-1.1421	10	0.72032	D	0.01	-21.9171	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1680;1680	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	C	1680;1680;563;525	ENSP00000277225:R1680C;ENSP00000414570:R1680C;ENSP00000363818:R563C;ENSP00000397306:R525C	ENSP00000277225:R1680C	R	+	1	0	ZNF462	108731052	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.456000	0.80751	2.861000	0.98227	0.655000	0.94253	CGC	-	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,superfamily_beta-sandwich domain of Sec23/24		0.567	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	C	NM_021224		108731052	1	no_errors	NM_021224.4	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	109691231	C	T	109691231	3	4	174	1	0	0	0	0	1	0	0	0	17923	652	23	1	5044	1	ZNF462	9	109691231	Missense_Mutation	SNP	C	TCGA-AB-2990-03A-01D-0739-09		109691231	31522200	6	1954											
CALB2	794	genome.wustl.edu	37	16	71419500	71419500	+	Silent	SNP	C	C	T			TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr16:71419500C>T	ENST00000302628.4	+	10	725	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CALB2_ENST00000349553.5_Missense_Mutation_p.T185M	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	216	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.D216D(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCTACATTGACGAGCATGAGC	0.567																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(1)|prostate(1)	16											58	52	54					16																	71419500		2198	4300	6498	69977001	SO:0001819	synonymous_variant	0			X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"EF-hand domain containing"	1435	protein-coding gene	gene with protein product	"calretinin"	114051	"calbindin 2, 29kDa (calretinin)"			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.648C>T	16.37:g.71419500C>T		1079	9.1	108					69977001	909	40.82	629	A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473	p.T185M	ENST00000302628.4	37	c.554	CCDS10899.1	16	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114761	0.56505	.	.	ENSG00000172137	ENST00000349553	D	0.81821	-1.54	6.15	-2.95	0.05564	.	.	.	.	.	T	0.71592	0.3358	.	.	.	0.24385	N	0.99478	B	0.02656	0.0	B	0.01281	0.0	T	0.60352	-0.7280	8	0.72032	D	0.01	-23.0477	12.6233	0.56616	0.0:0.4879:0.0:0.5121	.	185	A6NER6	.	M	185	ENSP00000340294:T185M	ENSP00000340294:T185M	T	+	2	0	CALB2	69977001	0.994000	0.37717	0.979000	0.43373	0.964000	0.63967	0.102000	0.15272	-0.536000	0.06298	-0.822000	0.03109	ACG	-	NULL		0.567	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB2	protein_coding	OTTHUMT00000268988.1	C	NM_001740		69977001	1	no_errors	NM_007088.3	genbank	human	reviewed	54_36p	missense	SNP	0.999	T	T	71419500	C	T	71419500	2	4	174	1	0	0	0	0	0	0	0	1	2574	536	19	1		1	CALB2	16	71419500	Silent	SNP	C	TCGA-AB-2990-03A-01D-0739-09		71419500	18935253	7	1955											
ANKRD24	170961	genome.wustl.edu	37	19	4186441	4186441	+	Nonsense_Mutation	SNP	C	C	T	rs575865153		TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr19:4186441C>T	ENST00000600132.1	+	2	295	c.19C>T	c.(19-21)Cga>Tga	p.R7*	ANKRD24_ENST00000318934.4_Nonsense_Mutation_p.R7*	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	7								p.R7*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCTCAGGGCGCGATTTAAGAA	0.577											OREG0025160	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	8e-04	0	5008	,	,		18912	0		0	False		,,,				2504	0					dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	19											78	82	81					19																	4186441		1976	4145	6121	4137441	SO:0001587	stop_gained	0			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"Ankyrin repeat domain containing"	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.19C>T	19.37:g.4186441C>T	ENSP00000471252:p.Arg7*	447	11.49	58	616				4137441	364	41.38	257	O75268|O95781	Nonsense_Mutation	SNP	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat	p.R7*	ENST00000600132.1	37	c.19	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.445940	0.97572	.	.	ENSG00000089847	ENST00000318934	.	.	.	3.52	2.43	0.29744	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0194	0.30400	0.2429:0.7571:0.0:0.0	.	.	.	.	X	7	.	ENSP00000321731:R7X	R	+	1	2	ANKRD24	4137441	0.052000	0.20516	0.969000	0.41365	0.787000	0.44495	1.098000	0.31000	0.777000	0.33496	0.484000	0.47621	CGA	-	NULL		0.577	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	protein_coding	OTTHUMT00000458188.1	C	XM_114000		4137441	1	no_errors	NM_133475.1	genbank	human	provisional	54_36p	nonsense	SNP	0.921	T	T	4186441	C	T	4186441	4	4	174	1	0	0	0	0	0	1	0	0	653	760	27	1	21	1	ANKRD24	19	4186441	Nonsense_Mutation	SNP	C	TCGA-AB-2990-03A-01D-0739-09		4186441	54942542	8	1956											
LAMA5	3911	genome.wustl.edu	37	20	60900434	60900434	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2990-03A-01D-0739-09	TCGA-AB-2990-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	8b0e6903-5e1e-4f8b-8f17-8c2442507379	7ff43be0-1381-4220-a165-9a9e17909534	g.chr20:60900434C>T	ENST00000252999.3	-	41	5533	c.5467G>A	c.(5467-5469)Gcc>Acc	p.A1823T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1823	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.A1823T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTGGCCAGGGCCCCCTGGCCT	0.672																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20											29	30	30					20																	60900434		2201	4296	6497	60333829	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"Laminins"	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5467G>A	20.37:g.60900434C>T	ENSP00000252999:p.Ala1823Thr	66	8.22	6		4	20	1	60333829	56	41.84	41	Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	HMMPfam_Laminin_B,PatternScan_TNFR_NGFR_1,HMMSmart_SM00282,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMSmart_SM00181,HMMPfam_Laminin_N,HMMSmart_SM00136,superfamily_Galactose-binding domain-like,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00281,superfamily_EGF/Laminin	p.A1823T	ENST00000252999.3	37	c.5467	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	C	1.276	-0.611702	0.03690	.	.	ENSG00000130702	ENST00000252999	T	0.35605	1.3	4.84	-1.79	0.07932	Laminin B type IV (2);	0.776649	0.12546	N	0.459469	T	0.15565	0.0375	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.19031	-1.0318	10	0.23891	T	0.37	.	3.1094	0.06352	0.1376:0.3867:0.2549:0.2207	.	1823	O15230	LAMA5_HUMAN	T	1823	ENSP00000252999:A1823T	ENSP00000252999:A1823T	A	-	1	0	LAMA5	60333829	0.020000	0.18652	0.002000	0.10522	0.000000	0.00434	0.183000	0.16919	-0.381000	0.07882	-2.419000	0.00218	GCC	-	HMMPfam_Laminin_B		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	protein_coding	OTTHUMT00000080014.2	C	NM_005560		60333829	-1	no_errors	NM_005560.3	genbank	human	reviewed	54_36p	missense	SNP	0.013	T	T	60900434	C	T	60900434	3	4	174	1	0	0	0	0	1	0	0	0	8609	739	26	2	5780	2	LAMA5	20	60900434	Missense_Mutation	SNP	C	TCGA-AB-2990-03A-01D-0739-09		60900434	2125086	9	1957											
VCAM1	7412	genome.wustl.edu	37	1	101196837	101196837	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr1:101196837G>A	ENST00000294728.2	+	6	1389	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000370119.4_Missense_Mutation_p.V368M|VCAM1_ENST00000347652.2_Missense_Mutation_p.V338M	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	430	Ig-like C2-type 5.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.V430M(2)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGTTCCTAGCGTGTACCCCCT	0.468																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	1											68	71	70					1																	101196837		2203	4300	6503	100969425	SO:0001583	missense	0			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"CD molecules", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Endogenous ligands"	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1288G>A	1.37:g.101196837G>A	ENSP00000294728:p.Val430Met	1112	0	0		8	0	0	100969425	597	30.18	258	A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_C2-set,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.V430M	ENST00000294728.2	37	c.1288	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	G	14.59	2.581859	0.46006	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728	T;T;T	0.26957	1.7;1.7;1.7	5.52	4.58	0.56647	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.126553	0.52532	D	0.000063	T	0.44540	0.1298	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.26744	-1.0094	10	0.41790	T	0.15	-19.2323	13.2468	0.60028	0.0746:0.0:0.9254:0.0	.	368;338;430	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	M	368;338;430	ENSP00000359137:V368M;ENSP00000304611:V338M;ENSP00000294728:V430M	ENSP00000294728:V430M	V	+	1	0	VCAM1	100969425	1.000000	0.71417	0.968000	0.41197	0.025000	0.11179	6.029000	0.70895	2.873000	0.98535	0.563000	0.77884	GTG	-	HMMPfam_C2-set,superfamily_Immunoglobulin		0.468	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	protein_coding	OTTHUMT00000030213.1	G	NM_001078		100969425	1	no_errors	NM_001078.2	genbank	human	reviewed	54_36p	missense	SNP	0.987	A	A	101196837	G	A	101196837	3	1	175	1	0	0	0	0	1	0	0	0	17134	1145	40	1	1310	1	VCAM1	1	101196837	Missense_Mutation	SNP	G	TCGA-AB-2991-03A-01D-0739-09		101196837	148053784	1	1958											
KIDINS220	57498	genome.wustl.edu	37	2	8890360	8890360	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr2:8890360G>A	ENST00000256707.3	-	24	3477	c.3296C>T	c.(3295-3297)cCa>cTa	p.P1099L	KIDINS220_ENST00000418530.1_Missense_Mutation_p.P1057L|KIDINS220_ENST00000427284.1_Missense_Mutation_p.P1099L|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P1099L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1099					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.P1099Q(1)|p.P1099L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCACACGGATGGGGGCTGGCT	0.622																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2											73	76	75					2																	8890360		2005	4171	6176	8807811	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"Ankyrin repeat domain containing"	29508	protein-coding gene	gene with protein product	"ankyrin repeat-rich membrane-spanning protein"	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3296C>T	2.37:g.8890360G>A	ENSP00000256707:p.Pro1099Leu	608	0	0		19	47.22	17	8807811	296	39.09	190	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_KAP_NTPase	p.P1099L	ENST00000256707.3	37	c.3296	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251795	0.39797	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.66815	0.81;-0.22;-0.18;-0.14;-0.18;-0.23	5.79	4.88	0.63580	.	0.442134	0.26719	N	0.022852	T	0.49762	0.1576	N	0.08118	0	0.23506	N	0.997534	B;B;B;B;B	0.15930	0.005;0.001;0.005;0.015;0.005	B;B;B;B;B	0.20955	0.004;0.005;0.027;0.032;0.014	T	0.49390	-0.8945	10	0.52906	T	0.07	.	16.9108	0.86139	0.0:0.1275:0.8725:0.0	.	1100;1100;783;1057;1099	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	L	846;783;1099;1099;1057;1099;1100;108	ENSP00000420364:P846L;ENSP00000256707:P1099L;ENSP00000411849:P1099L;ENSP00000414923:P1057L;ENSP00000418974:P1099L;ENSP00000419964:P1100L	ENSP00000256707:P1099L	P	-	2	0	KIDINS220	8807811	1.000000	0.71417	0.021000	0.16686	0.120000	0.20174	7.624000	0.83124	2.733000	0.93635	0.655000	0.94253	CCA	-	NULL		0.622	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	protein_coding	OTTHUMT00000323408.2	G	NM_020738		8807811	-1	no_errors	NM_020738.2	genbank	human	validated	54_36p	missense	SNP	0.282	A	A	8890360	G	A	8890360	3	1	175	1	0	0	0	0	1	0	0	0	8271	1348	47	2	2047	2	KIDINS220	2	8890360	Missense_Mutation	SNP	G	TCGA-AB-2991-03A-01D-0739-09		8890360	234309013	2	1959											
OSTalpha	200931	genome.wustl.edu	37	3	195955063	195955063	+	Missense_Mutation	SNP	C	C	T	rs199724366		TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr3:195955063C>T	ENST00000296327.5	+	5	649	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	147					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)	p.T147M(1)								Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GTGCTGAGGACGCTGAGGGAC	0.637																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											171	168	169					3																	195955063		2203	4300	6503	197439460	SO:0001583	missense	0				CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"Solute carriers"	29955	protein-coding gene	gene with protein product	"organic solute transporter, alpha subunit"	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.440C>T	3.37:g.195955063C>T	ENSP00000296327:p.Thr147Met	882	0.34	3		1	50	1	197439460	261	41.74	187	Q6ZMC7	Missense_Mutation	SNP	NULL	p.T147M	ENST00000296327.5	37	c.440	CCDS3314.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.32|10.32	1.318276|1.318276	0.23994|0.23994	.|.	.|.	ENSG00000163959|ENSG00000163959	ENST00000428985|ENST00000296327	.|T	.|0.44482	.|0.92	5.29|5.29	5.29|5.29	0.74685|0.74685	.|.	.|0.129561	.|0.35291	.|N	.|0.003315	T|T	0.39036|0.39036	0.1063|0.1063	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|P	.|0.37176	.|0.586	.|B	.|0.28139	.|0.086	T|T	0.27706|0.27706	-1.0066|-1.0066	5|10	.|0.27082	.|T	.|0.32	.|.	13.1115|13.1115	0.59277|0.59277	0.1599:0.8401:0.0:0.0|0.1599:0.8401:0.0:0.0	.|.	.|147	.|Q86UW1	.|OSTA_HUMAN	C|M	160|147	.|ENSP00000296327:T147M	.|ENSP00000296327:T147M	R|T	+|+	1|2	0|0	AC069257.9|AC069257.9	197439460|197439460	0.794000|0.794000	0.28838|0.28838	0.995000|0.995000	0.50966|0.50966	0.225000|0.225000	0.24961|0.24961	1.699000|1.699000	0.37804|0.37804	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CGC|ACG	-	NULL		0.637	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSTalpha	protein_coding	OTTHUMT00000341253.1	C	NM_152672		197439460	1	no_errors	NM_152672.5	genbank	human	validated	54_36p	missense	SNP	0.998	T	T	195955063	C	T	195955063	3	4	175	1	0	0	0	0	1	0	0	0	11300	536	19	1	458	1	OSTalpha	3	195955063	Missense_Mutation	SNP	C	TCGA-AB-2991-03A-01D-0739-09		195955063	2067367	3	1960											
CCDC136	64753	genome.wustl.edu	37	7	128451964	128451964	+	Silent	SNP	G	G	A			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr7:128451964G>A	ENST00000297788.4	+	13	2506	c.2139G>A	c.(2137-2139)cgG>cgA	p.R713R	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	713						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R713R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TAGAGGAGCGGAAGAGGCTGC	0.562																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	7											67	68	68					7																	128451964		1917	4141	6058	128239200	SO:0001819	synonymous_variant	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2139G>A	7.37:g.128451964G>A		1272	0	0		0	100	1	128239200	409	43.06	310	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	superfamily_Prefoldin,superfamily_Spectrin repeat	p.R713	ENST00000297788.4	37	c.2139	CCDS47704.1	7	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400659	0.25291	.	.	ENSG00000128596	ENST00000494552	.	.	.	5.93	-1.1	0.09872	.	.	.	.	.	T	0.55321	0.1913	.	.	.	0.49389	D	0.999787	.	.	.	.	.	.	T	0.50591	-0.8810	4	.	.	.	-15.005	9.7583	0.40517	0.154:0.5013:0.3447:0.0	.	.	.	.	E	590	.	.	G	+	2	0	CCDC136	128239200	0.020000	0.18652	0.969000	0.41365	0.988000	0.76386	-0.451000	0.06795	-0.109000	0.12044	0.561000	0.74099	GGA	-	superfamily_Spectrin repeat		0.562	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	protein_coding	OTTHUMT00000350641.1	G	NM_022742		128239200	1	no_errors	NM_022742.3	genbank	human	validated	54_36p	silent	SNP	0.972	A	A	128451964	G	A	128451964	2	1	175	1	0	0	0	0	0	0	0	1	2770	1161	41	2		2	CCDC136	7	128451964	Silent	SNP	G	TCGA-AB-2991-03A-01D-0739-09		128451964	30686699	4	1961											
ARID2	196528	genome.wustl.edu	37	12	46254719	46254719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr12:46254719C>T	ENST00000334344.6	+	16	5081	c.4909C>T	c.(4909-4911)Cag>Tag	p.Q1637*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Nonsense_Mutation_p.Q245*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q1488*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q1247*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1637					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1637*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTGTCTGTGGCAGTCTTGTAA	0.383			"N, S, F"		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	12											57	58	57					12																	46254719		2203	4300	6503	44540986	SO:0001587	stop_gained	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"-"	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.4909C>T	12.37:g.46254719C>T	ENSP00000335044:p.Gln1637*	767	0.13	1		16	15.79	3	44540986	623	26.04	220	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	HMMPfam_ARID,HMMSmart_SM00501,superfamily_ARID-like,PatternScan_ZINC_FINGER_C2H2_1,superfamily_"Winged helix" DNA-binding domain	p.Q1637*	ENST00000334344.6	37	c.4909	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	46	12.775291	0.99695	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	.	.	.	5.86	5.86	0.93980	.	0.054140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-4.307	20.1986	0.98248	0.0:1.0:0.0:0.0	.	.	.	.	X	1637;754;754;1488;1247;245	.	ENSP00000335044:Q1637X	Q	+	1	0	ARID2	44540986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.372000	0.79612	2.781000	0.95711	0.650000	0.86243	CAG	-	PatternScan_ZINC_FINGER_C2H2_1		0.383	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	C	XM_350875		44540986	1	no_errors	NM_152641.2	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	46254719	C	T	46254719	4	4	175	1	0	0	0	0	0	1	0	0	915	711	25	2	4971	2	ARID2	12	46254719	Nonsense_Mutation	SNP	C	TCGA-AB-2991-03A-01D-0739-09		46254719	87597176	5	1962											
MYCBP2	23077	genome.wustl.edu	37	13	77730270	77730270	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr13:77730270G>A	ENST00000544440.2	-	46	6741	c.6724C>T	c.(6724-6726)Cgt>Tgt	p.R2242C	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R2242C|MYCBP2_ENST00000407578.2_Missense_Mutation_p.R2280C					MYC binding protein 2, E3 ubiquitin protein ligase									p.R2242C(2)|p.R2280C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CAACCACAACGAATATCATCC	0.373																																						dbGAP											4	Substitution - Missense(4)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(2)	13											123	106	112					13																	77730270		2203	4300	6503	76628271	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"MYC binding protein 2"			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6724C>T	13.37:g.77730270G>A	ENSP00000444596:p.Arg2242Cys	1751	0.34	6		27	32.5	13	76628271	951	24.31	306		Missense_Mutation	SNP	HMMPfam_RCC1,PatternScan_RCC1_2,HMMSmart_SM00184,superfamily_Galactose-binding domain-like,superfamily_RCC1/BLIP-II,HMMPfam_PHR,superfamily_E set domains,superfamily_RING/U-box	p.R2242C	ENST00000544440.2	37	c.6724		13	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650690	0.87958	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.51817	0.69;0.69;0.69	5.6	5.6	0.85130	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.65315	-0.6198	10	0.87932	D	0	.	14.4557	0.67416	0.0:0.0:0.8528:0.1472	.	2242	O75592	MYCB2_HUMAN	C	2242;2280;2242	ENSP00000349892:R2242C;ENSP00000384288:R2280C;ENSP00000444596:R2242C	ENSP00000349892:R2242C	R	-	1	0	MYCBP2	76628271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.596000	0.61055	2.630000	0.89119	0.655000	0.94253	CGT	-	superfamily_E set domains		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	protein_coding	OTTHUMT00000045326.1	G	NM_015057		76628271	-1	no_errors	NM_015057.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	77730270	G	A	77730270	3	1	175	1	0	0	0	0	1	0	0	0	10018	1058	37	1	7350	1	MYCBP2	13	77730270	Missense_Mutation	SNP	G	TCGA-AB-2991-03A-01D-0739-09		77730270	37439608	6	1963											
MAX	4149	genome.wustl.edu	37	14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr14:65544747C>T	ENST00000358664.4	-	4	309	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000284165.6_Missense_Mutation_p.R60Q|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	60	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498																																						dbGAP											5	Substitution - Missense(5)	endometrium(4)|haematopoietic_and_lymphoid_tissue(1)	14											100	88	92					14																	65544747		2203	4300	6503	64614500	SO:0001583	missense	0				CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"Basic helix-loop-helix proteins"	6913	protein-coding gene	gene with protein product		154950	"MAX protein"			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.179G>A	14.37:g.65544747C>T	ENSP00000351490:p.Arg60Gln	536	0.37	2		339	18.76	79	64614500	252	11.27	32	A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain	p.R60Q	ENST00000358664.4	37	c.179	CCDS9771.1	14	.	.	.	.	.	.	.	.	.	.	C	18.61	3.661506	0.67700	.	.	ENSG00000125952	ENST00000358402;ENST00000284165;ENST00000358664;ENST00000555419;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443	D;D;D;D;D;D;D;D	0.97870	-4.58;-4.58;-4.58;-4.32;-4.58;-4.58;-4.58;-4.58	5.72	3.91	0.45181	Helix-loop-helix DNA-binding (5);	0.119749	0.56097	D	0.000028	D	0.98492	0.9497	M	0.84326	2.69	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.991;0.994;0.995;0.985	D	0.98698	1.0699	10	0.87932	D	0	-3.6574	11.4065	0.49900	0.0:0.8517:0.0:0.1483	.	60;51;51;60;60	Q14803;Q6V3B1;P61244-2;P61244;P61244-3	.;.;.;MAX_HUMAN;.	Q	51;60;60;24;67;60;51;51;51	ENSP00000351175:R51Q;ENSP00000284165:R60Q;ENSP00000351490:R60Q;ENSP00000452405:R24Q;ENSP00000452378:R60Q;ENSP00000452286:R51Q;ENSP00000452197:R51Q;ENSP00000450818:R51Q	ENSP00000284165:R60Q	R	-	2	0	MAX	64614500	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.037000	0.70956	0.774000	0.33427	-0.140000	0.14226	CGG	-	HMMPfam_HLH,HMMSmart_SM00353,superfamily_HLH helix-loop-helix DNA-binding domain		0.498	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAX	protein_coding	OTTHUMT00000286386.1	C	NM_197957		64614500	-1	no_errors	NM_002382.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	65544747	C	T	65544747	3	4	175	1	0	0	0	0	1	0	0	0	9339	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-AB-2991-03A-01D-0739-09		65544747	41804793	7	1964											
KRTAP26-1	388818	genome.wustl.edu	37	21	31692113	31692113	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2991-03A-01D-0739-09	TCGA-AB-2991-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	70fdce87-0e0c-489a-84bf-ad4e0206a8e7	4de3b1f0-997c-43ec-b5ea-4b5dc4367c3a	g.chr21:31692113C>T	ENST00000360542.3	-	1	494	c.241G>A	c.(241-243)Ggt>Agt	p.G81S		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	81						intermediate filament (GO:0005882)		p.G81S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTGGAAGAACCGCAAGAGGTT	0.542																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	21											120	117	118					21																	31692113		2203	4300	6503	30613984	SO:0001583	missense	0			AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"Keratin associated proteins"	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.241G>A	21.37:g.31692113C>T	ENSP00000353742:p.Gly81Ser	1542	0	0					30613984	556	38.77	352	B0RZD3	Missense_Mutation	SNP	HMMPfam_PMG	p.G81S	ENST00000360542.3	37	c.241	CCDS13588.1	21	.	.	.	.	.	.	.	.	.	.	C	6.804	0.517374	0.13005	.	.	ENSG00000197683	ENST00000360542	T	0.03004	4.08	4.99	-2.35	0.06684	.	0.529406	0.17771	N	0.162596	T	0.01765	0.0056	N	0.11560	0.145	0.09310	N	1	B	0.22851	0.076	B	0.16722	0.016	T	0.44757	-0.9307	10	0.32370	T	0.25	1.1381	6.1025	0.20055	0.2921:0.4352:0.0:0.2727	.	81	Q6PEX3	KR261_HUMAN	S	81	ENSP00000353742:G81S	ENSP00000353742:G81S	G	-	1	0	KRTAP26-1	30613984	0.000000	0.05858	0.000000	0.03702	0.864000	0.49448	-0.261000	0.08694	-0.135000	0.11495	-0.266000	0.10368	GGT	-	HMMPfam_PMG		0.542	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP26-1	protein_coding	OTTHUMT00000128218.1	C	NM_203405		30613984	-1	no_errors	NM_203405.1	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	31692113	C	T	31692113	3	4	175	1	0	0	0	0	1	0	0	0	8543	652	23	1	395	1	KRTAP26-1	21	31692113	Missense_Mutation	SNP	C	TCGA-AB-2991-03A-01D-0739-09		31692113	16437782	8	1965											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys	1083	1.28	14		49	53.33	56	208821358	429	31.47	197	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132C	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	209113113	G	A	209113113	3	1	176	1	0	0	0	0	1	0	0	0	7494	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-2992-03A-01D-0739-09		209113113	34086260	1	1966											
RPL9	6133	genome.wustl.edu	37	4	39459259	39459259	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr4:39459259T>C	ENST00000449470.2	-	3	653	c.205A>G	c.(205-207)Acc>Gcc	p.T69A	LIAS_ENST00000261434.3_5'Flank|LIAS_ENST00000381846.1_5'Flank|LIAS_ENST00000340169.2_5'Flank|LIAS_ENST00000513731.1_5'Flank|RPL9_ENST00000295955.9_Missense_Mutation_p.T69A	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9	69					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.T69A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						GTCCGAACGGTAGCCAGTTCC	0.418																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											99	94	96					4																	39459259		2203	4298	6501	39135654	SO:0001583	missense	0			D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"L ribosomal proteins"	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367	ENST00000449470.2:c.205A>G	4.37:g.39459259T>C	ENSP00000400467:p.Thr69Ala	487	3.36	17		18	41.94	13	39135654	205	30.27	89		Missense_Mutation	SNP	PatternScan_RIBOSOMAL_L6_2,HMMPfam_Ribosomal_L6,superfamily_Ribosomal protein L6	p.T69A	ENST00000449470.2	37	c.205	CCDS3452.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.25|11.25	1.583505|1.583505	0.28268|0.28268	.|.	.|.	ENSG00000163682|ENSG00000163682	ENST00000295955;ENST00000449470;ENST00000394452;ENST00000503040;ENST00000504470|ENST00000508595;ENST00000506581	.|.	.|.	.|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Ribosomal protein L6, alpha-beta domain (3);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.49047|0.49047	0.1534|0.1534	N|N	0.16862|0.16862	0.45|0.45	0.80722|0.80722	D|D	1|1	B;B|.	0.13145|.	0.007;0.0|.	B;B|.	0.18561|.	0.022;0.006|.	T|T	0.46062|0.46062	-0.9218|-0.9218	9|5	0.02654|.	T|.	1|.	.|.	14.7492|14.7492	0.69513|0.69513	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	69;69|.	B4DLV8;P32969|.	.;RL9_HUMAN|.	A|C	69|65;15	.|.	ENSP00000346022:T69A|.	T|Y	-|-	1|2	0|0	RPL9|RPL9	39135654|39135654	1.000000|1.000000	0.71417|0.71417	0.627000|0.627000	0.29227|0.29227	0.982000|0.982000	0.71751|0.71751	6.185000|6.185000	0.72013|0.72013	2.071000|2.071000	0.62044|0.62044	0.459000|0.459000	0.35465|0.35465	ACC|TAC	-	HMMPfam_Ribosomal_L6,superfamily_Ribosomal protein L6		0.418	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL9	protein_coding	OTTHUMT00000361018.1	T			39135654	-1	no_errors	NM_000661.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	39459259	T	C	39459259	3	2	176	1	0	0	0	0	1	0	0	0	13603	1638	57	3	389	3	RPL9	4	39459259	Missense_Mutation	SNP	T	TCGA-AB-2992-03A-01D-0739-09		39459259	151695017	2	1967											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs|NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	176	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2992-03A-01D-0739-09		170837547	10077713	3	1968											
PARP2	10038	genome.wustl.edu	37	14	20818769	20818769	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr14:20818769A>T	ENST00000250416.5	+	5	475	c.448A>T	c.(448-450)Aga>Tga	p.R150*	PARP2_ENST00000429687.3_Nonsense_Mutation_p.R137*|PARP2_ENST00000527915.1_Nonsense_Mutation_p.R150*	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	150					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R150*(1)|p.R101*(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGTTTGGATGAGATGGGGCCG	0.403								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	14											148	133	138					14																	20818769		1872	4114	5986	19888609	SO:0001587	stop_gained	0			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"Poly (ADP-ribose) polymerases"	272	protein-coding gene	gene with protein product		607725	"ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2", "poly (ADP-ribose) polymerase family, member 2"	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.448A>T	14.37:g.20818769A>T	ENSP00000250416:p.Arg150*	1825	1.78	33		23	4.17	1	19888609	675	33.14	336	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Nonsense_Mutation	SNP	HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase,PatternScan_CPSASE_2,HMMPfam_WGR,HMMSmart_SM00773,HMMPfam_PARP,PatternScan_CASPASE_HIS,superfamily_ADP-ribosylation	p.R150*	ENST00000250416.5	37	c.448	CCDS41910.1	14	.	.	.	.	.	.	.	.	.	.	A	37	6.368722	0.97511	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0428	9.7962	0.40737	0.7154:0.2846:0.0:0.0	.	.	.	.	X	137;150;150	.	ENSP00000250416:R150X	R	+	1	2	PARP2	19888609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.123000	0.41996	2.210000	0.71456	0.533000	0.62120	AGA	-	HMMPfam_WGR,HMMSmart_SM00773		0.403	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	protein_coding	OTTHUMT00000387847.2	A			19888609	1	no_errors	NM_005484.1	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	20818769	A	T	20818769	4	4	176	1	0	0	0	0	0	1	0	0	11461	296	11	5	466	5	PARP2	14	20818769	Nonsense_Mutation	SNP	A	TCGA-AB-2992-03A-01D-0739-09		20818769	86530771	4	1969											
AGBL1	123624	genome.wustl.edu	37	15	86790957	86790957	+	Silent	SNP	G	G	T			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr15:86790957G>T	ENST00000441037.2	+	6	539	c.444G>T	c.(442-444)ctG>ctT	p.L148L	AGBL1_ENST00000421325.2_Silent_p.L148L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	148					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.L148L(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGCTCGGGCTGCACCAGGACT	0.627																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15											27	29	29					15																	86790957		2150	4259	6409	84591961	SO:0001819	synonymous_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"cytosolic carboxypeptidase 4"	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.444G>T	15.37:g.86790957G>T		1386	2.05	29					84591961	659	30.27	287	A1A4X5|A6NJH6|C9JHL5	Silent	SNP	HMMPfam_Peptidase_M14,superfamily_ARM repeat,superfamily_Zn-dependent exopeptidases	p.L148	ENST00000441037.2	37	c.444	CCDS58398.1	15																																																																																			-	superfamily_ARM repeat		0.627	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	protein_coding	OTTHUMT00000314929.5	G	NM_152336		84591961	1	no_errors	NM_152336.2	genbank	human	validated	54_36p	silent	SNP	0.993	T	T	86790957	G	T	86790957	2	4	176	1	0	0	0	0	0	0	0	1	375	1306	46	4		4	AGBL1	15	86790957	Silent	SNP	G	TCGA-AB-2992-03A-01D-0739-09		86790957	15740435	5	1970											
MPND	84954	genome.wustl.edu	37	19	4354113	4354113	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr19:4354113C>T	ENST00000262966.8	+	5	803	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	MPND_ENST00000599840.1_Missense_Mutation_p.R246C|AC007292.3_ENST00000593524.1_RNA|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000359935.4_Missense_Mutation_p.R246C	NM_032868.4	NP_116257.2	Q8N594	MPND_HUMAN	MPN domain containing	246							peptidase activity (GO:0008233)	p.R246C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGGCAGCCGCGACTTGGC	0.647																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											30	33	32					19																	4354113		1951	4144	6095	4305113	SO:0001583	missense	0				CCDS42470.1, CCDS54200.1, CCDS74261.1	19p13.3	2014-08-12			ENSG00000008382				25934	protein-coding gene	gene with protein product							Standard	XM_005259663		Approved	FLJ14981	uc002mae.3	Q8N594	OTTHUMG00000181914	ENST00000262966.8:c.736C>T	19.37:g.4354113C>T	ENSP00000262966:p.Arg246Cys	1609	2.13	35		26	7.14	2	4305113	157	39.62	103	Q96SJ0|Q9Y2P1|Q9Y2P2	Missense_Mutation	SNP	HMMPfam_Mov34,superfamily_JAB1/MPN domain	p.R246C	ENST00000262966.8	37	c.736	CCDS42470.1	19	.	.	.	.	.	.	.	.	.	.	c	13.90	2.375086	0.42105	.	.	ENSG00000008382	ENST00000262966;ENST00000359935	T;T	0.80480	-1.38;-1.38	5.03	5.03	0.67393	.	0.054046	0.64402	D	0.000001	D	0.83834	0.5340	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;D	0.65874	0.939;0.855;0.91	D	0.85507	0.1195	10	0.87932	D	0	-21.5555	14.1996	0.65693	0.0:1.0:0.0:0.0	.	246;246;246	Q8N594-2;A6NI36;Q8N594	.;.;MPND_HUMAN	C	246	ENSP00000262966:R246C;ENSP00000353015:R246C	ENSP00000262966:R246C	R	+	1	0	MPND	4305113	1.000000	0.71417	0.850000	0.33497	0.071000	0.16799	1.900000	0.39828	2.505000	0.84491	0.550000	0.68814	CGC	-	NULL		0.647	MPND-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MPND	protein_coding	OTTHUMT00000458292.1	C	NM_032868		4305113	1	no_errors	NM_032868.3	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	4354113	C	T	4354113	3	4	176	1	0	0	0	0	1	0	0	0	9731	652	23	1	754	1	MPND	19	4354113	Missense_Mutation	SNP	C	TCGA-AB-2992-03A-01D-0739-09		4354113	54774870	6	1971											
KLK7	5650	genome.wustl.edu	37	19	51480908	51480908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr19:51480908G>A	ENST00000391807.1	-	6	747	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	KLK7_ENST00000336317.4_Nonsense_Mutation_p.Q103*|KLK7_ENST00000595820.1_Nonsense_Mutation_p.Q216*|KLK7_ENST00000597707.1_Nonsense_Mutation_p.Q144*|CTB-147C22.9_ENST00000594512.1_RNA	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	216	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Q216*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		ACCAGACCTTGCAGGGTACCT	0.517																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	19											119	104	109					19																	51480908		2203	4300	6503	56172720	SO:0001587	stop_gained	0			L33404	CCDS12812.1, CCDS59414.1	19q13.33	2011-09-07	2006-10-27			ENSG00000169035		"Kallikreins", "Serine peptidases / Serine peptidases"	6368	protein-coding gene	gene with protein product		604438	"kallikrein 7 (chymotryptic, stratum corneum)"	PRSS6		8034709, 16800724, 16800723	Standard	NM_005046		Approved	SCCE	uc021uyj.1	P49862		ENST00000391807.1:c.646C>T	19.37:g.51480908G>A	ENSP00000375683:p.Gln216*	224	3.45	8					56172720	118	38.22	73	A8K0U5|Q8N5N9|Q8NFV7	Nonsense_Mutation	SNP	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.Q216*	ENST00000391807.1	37	c.646	CCDS12812.1	19	.	.	.	.	.	.	.	.	.	.	g	39	7.528652	0.98339	.	.	ENSG00000169035	ENST00000304045;ENST00000391807;ENST00000336317	.	.	.	5.14	2.87	0.33458	.	0.270547	0.19487	U	0.113089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	5.8316	0.18584	0.1813:0.1615:0.6572:0.0	.	.	.	.	X	216;216;103	.	ENSP00000304791:Q216X	Q	-	1	0	KLK7	56172720	1.000000	0.71417	0.947000	0.38551	0.988000	0.76386	3.720000	0.54933	1.324000	0.45282	0.448000	0.29417	CAA	-	HMMPfam_Trypsin,HMMSmart_SM00020,superfamily_Trypsin-like serine proteases		0.517	KLK7-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK7	protein_coding	OTTHUMT00000464344.1	G	NM_005046		56172720	-1	no_errors	NM_005046.2	genbank	human	reviewed	54_36p	nonsense	SNP	0.616	A	A	51480908	G	A	51480908	4	1	176	1	0	0	0	0	0	1	0	0	8409	1328	46	2	119	2	KLK7	19	51480908	Nonsense_Mutation	SNP	G	TCGA-AB-2992-03A-01D-0739-09	47126795	51480908	7648075	7	1972											
SLC24A3	57419	genome.wustl.edu	37	20	19662539	19662539	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chr20:19662539A>G	ENST00000328041.6	+	10	1002	c.805A>G	c.(805-807)Aca>Gca	p.T269A		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	269					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.T269A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAGAGGAGGACAAAAGGTGC	0.473																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	20											147	128	134					20																	19662539		2203	4300	6503	19610539	SO:0001583	missense	0			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"Solute carriers"	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.805A>G	20.37:g.19662539A>G	ENSP00000333519:p.Thr269Ala	2254	0.79	18		3	25	1	19610539	398	33	196	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	HMMPfam_Na_Ca_ex	p.T269A	ENST00000328041.6	37	c.805	CCDS13140.1	20	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779992	0.31502	.	.	ENSG00000185052	ENST00000328041	T	0.61040	0.14	5.06	5.06	0.68205	.	0.101187	0.64402	D	0.000003	T	0.45115	0.1326	L	0.29908	0.895	0.44500	D	0.997444	B	0.09022	0.002	B	0.09377	0.004	T	0.32719	-0.9896	9	.	.	.	.	14.7795	0.69754	1.0:0.0:0.0:0.0	.	269	Q9HC58	NCKX3_HUMAN	A	269	ENSP00000333519:T269A	.	T	+	1	0	SLC24A3	19610539	1.000000	0.71417	0.881000	0.34555	0.891000	0.51852	4.027000	0.57239	2.030000	0.59900	0.402000	0.26972	ACA	-	NULL		0.473	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	protein_coding	OTTHUMT00000078207.4	A	NM_020689		19610539	1	no_errors	NM_020689.3	genbank	human	validated	54_36p	missense	SNP	0.998	G	G	19662539	A	G	19662539	3	3	176	1	0	0	0	0	1	0	0	0	14467	275	10	3	843	3	SLC24A3	20	19662539	Missense_Mutation	SNP	A	TCGA-AB-2992-03A-01D-0739-09		19662539	43362981	8	1973											
AMOT	154796	genome.wustl.edu	37	X	112058654	112058654	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-2992-03A-01D-0739-09	TCGA-AB-2992-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4465a0df-868c-46ee-9087-c39f64ffd3ca	844d8005-5ba1-4480-b5b2-939b59f155c7	g.chrX:112058654A>T	ENST00000524145.1	-	3	1398	c.1324T>A	c.(1324-1326)Tca>Aca	p.S442T	AMOT_ENST00000371959.3_Missense_Mutation_p.S442T|AMOT_ENST00000371962.1_Missense_Mutation_p.S210T|AMOT_ENST00000304758.1_Missense_Mutation_p.S33T|AMOT_ENST00000371958.1_Missense_Mutation_p.S210T			Q4VCS5	AMOT_HUMAN	angiomotin	442					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.S33T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCTCGTCTGAGAGGATCTCA	0.527																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											215	192	200					X																	112058654		2203	4300	6503	111945310	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1324T>A	X.37:g.112058654A>T	ENSP00000429013:p.Ser442Thr	1815	0.82	15		1	0	0	111945310	926	33.97	477	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	NULL	p.S33T	ENST00000524145.1	37	c.97	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747521	0.30955	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.38722	1.12;2.57;2.57;2.57;2.57	5.31	4.12	0.48240	.	0.207714	0.43416	D	0.000571	T	0.26593	0.0650	L	0.28556	0.865	0.41022	D	0.98508	B	0.09022	0.002	B	0.04013	0.001	T	0.06320	-1.0833	10	0.08381	T	0.77	-7.56	9.9842	0.41832	0.8465:0.0:0.0:0.1535	.	442	Q4VCS5	AMOT_HUMAN	T	33;442;210;442;210	ENSP00000305557:S33T;ENSP00000361027:S442T;ENSP00000361030:S210T;ENSP00000429013:S442T;ENSP00000361026:S210T	ENSP00000305557:S33T	S	-	1	0	AMOT	111945310	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	3.224000	0.51238	0.802000	0.34089	0.486000	0.48141	TCA	-	NULL		0.527	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	protein_coding	OTTHUMT00000378570.1	A	NM_133265		111945310	-1	no_errors	NM_133265.1	genbank	human	reviewed	54_36p	missense	SNP	0.996	T	T	112058654	A	T	112058654	3	4	176	1	0	0	0	0	1	0	0	0	582	304	11	5	1970	5	AMOT	23	112058654	Missense_Mutation	SNP	A	TCGA-AB-2992-03A-01D-0739-09		112058654	43211906	9	1974											
DNMT3A	1788	genome.wustl.edu	37	2	25463514	25463514	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	A	A	A	-	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr2:25463514delA	ENST00000264709.3	-	18	2505	c.2168delT	c.(2167-2169)ctcfs	p.L723fs	DNMT3A_ENST00000402667.1_Frame_Shift_Del_p.L500fs|DNMT3A_ENST00000380746.4_Frame_Shift_Del_p.L534fs|DNMT3A_ENST00000321117.5_Frame_Shift_Del_p.L723fs|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	723	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.L723fs*56(4)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTACCGTAGAGGCCCTTGCG	0.577			"Mis, F, N, S"		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	4	Deletion - Frameshift(4)	haematopoietic_and_lymphoid_tissue(4)	2											140	117	125					2																	25463514		2203	4300	6503	25317018	SO:0001589	frameshift_variant	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2168delT	2.37:g.25463514delA	ENSP00000264709:p.Leu723fs	1146	13.8	187		25	0	0	25317018	400	45.28	360	E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Frame_Shift_Del	DEL	HMMPfam_PWWP,HMMSmart_SM00293,HMMPfam_DNA_methylase,superfamily_FYVE/PHD zinc finger,PatternScan_C5_MTASE_1,superfamily_S-adenosyl-L-methionine-dependent methyltransferases,superfamily_Tudor/PWWP/MBT	p.L723fs	ENST00000264709.3	37	c.2168	CCDS33157.1	2																																																																																			-	HMMPfam_DNA_methylase,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.577	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	protein_coding	OTTHUMT00000211587.1	A	NM_022552		25317018	-1	no_errors	NM_022552.3	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.999	-	-	25463514	A	-	25463514	7	5	177	1	0	1	0	1	0	0	0	0	4676	304	11	0	594	0	DNMT3A	2	25463514	Frame_Shift_Del	DEL	A	TCGA-AB-2993-03A-01D-0739-09		25463514	217735859	1	1975											
TTN	7273	genome.wustl.edu	37	2	179476545	179476545	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr2:179476545C>T	ENST00000591111.1	-	218	45792	c.45568G>A	c.(45568-45570)Gaa>Aaa	p.E15190K	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E16831K|TTN_ENST00000342992.6_Missense_Mutation_p.E14263K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E7766K|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E7891K|TTN_ENST00000342175.6_Missense_Mutation_p.E7958K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15190	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E7766K(3)|p.E14263K(3)|p.E7958K(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCAGCTTCATTTTCAGCC	0.443																																						dbGAP											9	Substitution - Missense(9)	haematopoietic_and_lymphoid_tissue(9)	2											139	133	134					2																	179476545		1931	4141	6072	179184790	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45568G>A	2.37:g.179476545C>T	ENSP00000465570:p.Glu15190Lys	10721	15.75	2174		49	51.49	52	179184790	8955	43.5733333333333	7039	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.E12813K	ENST00000591111.1	37	c.38437		2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155610	0.57259	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.97	5.97	0.96955	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65407	0.2688	L	0.29908	0.895	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.66760	-0.5842	9	0.87932	D	0	.	20.4097	0.99016	0.0:1.0:0.0:0.0	.	7766;7891;7958;15190	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	14263;7766;7958;7891;7766	ENSP00000343764:E14263K;ENSP00000434586:E7766K;ENSP00000340554:E7958K;ENSP00000352154:E7891K	ENSP00000340554:E7958K	E	-	1	0	TTN	179184790	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.770000	0.85390	2.828000	0.97474	0.650000	0.86243	GAA	-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179184790	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	179476545	C	T	179476545	3	4	177	1	0	0	0	0	1	0	0	0	16732	835	29	2	57582	2	TTN	2	179476545	Missense_Mutation	SNP	C	TCGA-AB-2993-03A-01D-0739-09	154013031	179476545	63722828	2	1976											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	CATG			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	-	-	-	CATG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr5:170837547_170837548insCATG	ENST00000296930.5	+	11	1164_1165	c.863_864insCATG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	Exception_encountered	5.37:g.170837547_170837548insCATG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	CATG	CATG	170837548	-	CATG	170837547	7	5	177	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-2993-03A-01D-0739-09		170837547	10077713	3	1977											
CDHR2	54825	genome.wustl.edu	37	5	176016333	176016333	+	Missense_Mutation	SNP	C	C	T	rs371676123		TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr5:176016333C>T	ENST00000510636.1	+	23	3285	c.3011C>T	c.(3010-3012)cCg>cTg	p.P1004L	CDHR2_ENST00000506348.1_Missense_Mutation_p.P1004L|CDHR2_ENST00000261944.5_Missense_Mutation_p.P1004L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1004	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.		P -> L (in an acute myeloid leukemia sample; somatic mutation). {ECO:0000269|PubMed:18987736}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P1004L(3)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TTCCGCAGGCCGGTGACCAGC	0.612																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	5							LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	96	101	99		3011,3011	3.7	0.1	5		99	0,8600		0,0,4300	no	missense,missense	CDHR2	NM_001171976.1,NM_017675.4	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	1004/1311,1004/1311	176016333	1,13005	2203	4300	6503	175948939	SO:0001583	missense	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"Cadherins / Cadherin-related"	18231	protein-coding gene	gene with protein product	"protocadherin LKC"		"protocadherin 24"	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3011C>T	5.37:g.176016333C>T	ENSP00000424565:p.Pro1004Leu	8521	8.65666666666667	794					175948939	5120	47.8133333333333	5094	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,superfamily_Cadherin	p.P1004L	ENST00000510636.1	37	c.3011	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	c	1.021	-0.684722	0.03328	2.27E-4	0.0	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.44881	0.91;0.91;0.91	4.8	3.65	0.41850	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.08179	0.0204	N	0.00025	-2.675	0.31570	N	0.656484	B	0.10296	0.003	B	0.04013	0.001	T	0.13953	-1.0490	9	0.17832	T	0.49	-9.988	9.6679	0.39996	0.0:0.0846:0.0:0.9154	.	1004	Q9BYE9	CDHR2_HUMAN	L	1004	ENSP00000424565:P1004L;ENSP00000261944:P1004L;ENSP00000421078:P1004L	ENSP00000261944:P1004L	P	+	2	0	CDHR2	175948939	1.000000	0.71417	0.130000	0.21974	0.033000	0.12548	3.586000	0.53950	0.711000	0.32018	-0.400000	0.06385	CCG	-	HMMPfam_Cadherin,HMMSmart_CA,superfamily_Cadherin		0.612	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH24	protein_coding	OTTHUMT00000372201.1	C	NM_017675		175948939	1	no_errors	NM_017675.3	genbank	human	reviewed	54_36p	missense	SNP	0.982	T	T	176016333	C	T	176016333	3	4	177	1	0	0	0	0	1	0	0	0	3119	652	23	1	3097	1	CDHR2	5	176016333	Missense_Mutation	SNP	C	TCGA-AB-2993-03A-01D-0739-09	5178786	176016333	4898927	4	1978											
SMC3	9126	genome.wustl.edu	37	10	112356176	112356176	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr10:112356176G>T	ENST00000361804.4	+	19	2110	c.1984G>T	c.(1984-1986)Ggt>Tgt	p.G662C		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	662	Flexible hinge.				DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.G662C(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAGCCATCGGGGTGCTCTAAC	0.348																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	10											108	109	108					10																	112356176		2203	4300	6503	112346166	SO:0001583	missense	0			AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"Structural maintenance of chromosomes proteins", "Proteoglycans / Extracellular Matrix : Other"	2468	protein-coding gene	gene with protein product	"bamacan proteoglycan"	606062	"chondroitin sulfate proteoglycan 6 (bamacan)"	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.1984G>T	10.37:g.112356176G>T	ENSP00000354720:p.Gly662Cys	8761	21.7966666666667	2734		38	53.66	44	112346166	9082	50.2833333333333	7834	A8K156|O60464|Q5T482	Missense_Mutation	SNP	HMMPfam_SMC_N,HMMPfam_SMC_hinge,superfamily_Smc hinge domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_BAG domain	p.G662C	ENST00000361804.4	37	c.1984	CCDS31285.1	10	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230613	0.58777	.	.	ENSG00000108055	ENST00000361804	D	0.96073	-3.9	5.33	5.33	0.75918	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99486	1.0949	10	0.87932	D	0	.	19.0314	0.92959	0.0:0.0:1.0:0.0	.	662	Q9UQE7	SMC3_HUMAN	C	662	ENSP00000354720:G662C	ENSP00000354720:G662C	G	+	1	0	SMC3	112346166	1.000000	0.71417	0.998000	0.56505	0.060000	0.15804	9.372000	0.97165	2.489000	0.83994	0.313000	0.20887	GGT	-	HMMPfam_SMC_N,superfamily_Smc hinge domain,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.348	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SMC3	protein_coding	OTTHUMT00000050337.1	G	NM_005445		112346166	1	no_errors	NM_005445.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	112356176	G	T	112356176	3	4	177	1	0	0	0	0	1	0	0	0	14784	1232	43	4	2058	4	SMC3	10	112356176	Missense_Mutation	SNP	G	TCGA-AB-2993-03A-01D-0739-09		112356176	23178571	5	1979											
FLT3	2322	genome.wustl.edu	37	13	28608273	28608274	+	In_Frame_Ins	INS	-	-	GAAATCAACGTAGAAGTACTCATTATCTGA			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	-	-	-	GAAATCAACGTAGAAGTACTCATTATCTGA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr13:28608273_28608274insGAAATCAACGTAGAAGTACTCATTATCTGA	ENST00000241453.7	-	14	1863_1864	c.1782_1783insTCAGATAATGAGTACTTCTACGTTGATTTC	c.(1780-1785)ttcaga>ttcTCAGATAATGAGTACTTCTACGTTGATTTCaga	p.593_594insFSDNEYFYVD	FLT3_ENST00000537084.1_In_Frame_Ins_p.593_594insFSDNEYFYVD|FLT3_ENST00000380982.4_In_Frame_Ins_p.593_594insFSDNEYFYVD	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	593	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F594_R595insSDNEYFYVDF(2)|p.F594_R595ins12(2)|p.F590_F594>L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTCTCTGAAATCAACGT	0.381			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	5	Insertion - In frame(4)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(5)	13																																								27506274	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1753_1782dupTCAGATAATGAGTACTTCTACGTTGATTTC	13.37:g.28608273_28608274insGAAATCAACGTAGAAGTACTCATTATCTGA	ENSP00000241453:p.Asp593_Phe594insPheSerAspAsnGluTyrPheTyrValAsp								27506273				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.594in_frame_insSDNEYFYVDF	ENST00000241453.7	37	c.1783_1782	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.381	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506274	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	GAAATCAACGTAGAAGTACTCATTATCTGA	GAAATCAACGTAGAAGTACTCATTATCTGA	28608274	-	GAAATCAACGTAGAAGTACTCATTATCTGA	28608273	7	5	177	1	0	1	1	0	0	0	0	0	5942	1588	55	0	1242	0	FLT3	13	28608273	In_Frame_Ins	INS	-	TCGA-AB-2993-03A-01D-0739-09		28608273	86561605	6	1980											
SLC15A1	6564	genome.wustl.edu	37	13	99378392	99378392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr13:99378392C>T	ENST00000376503.5	-	4	285	c.230G>A	c.(229-231)tGg>tAg	p.W77*		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	77					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)	p.W77*(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTTTCCCAGCCACGAGTCGGC	0.473																																						dbGAP											3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	13											51	47	49					13																	99378392		2203	4300	6503	98176393	SO:0001587	stop_gained	0			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"Solute carriers"	10920	protein-coding gene	gene with protein product	"peptide transporter HPEPT1", "bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)", "solute carrier family 15 oligopeptide transporter member 1"	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.230G>A	13.37:g.99378392C>T	ENSP00000365686:p.Trp77*	9390	15.6766666666667	1998					98176393	8439	51.5	9910	Q5VW82	Nonsense_Mutation	SNP	HMMPfam_PTR2,superfamily_MFS general substrate transporter,PatternScan_PTR2_1,PatternScan_PTR2_2	p.W77*	ENST00000376503.5	37	c.230	CCDS9489.1	13	.	.	.	.	.	.	.	.	.	.	C	37	6.178180	0.97352	.	.	ENSG00000088386	ENST00000376503;ENST00000376494;ENST00000313260	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-40.6234	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	77;45;87	.	ENSP00000318937:W87X	W	-	2	0	SLC15A1	98176393	1.000000	0.71417	1.000000	0.80357	0.211000	0.24417	7.794000	0.85869	2.941000	0.99782	0.655000	0.94253	TGG	-	superfamily_MFS general substrate transporter,PatternScan_PTR2_1		0.473	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	protein_coding	OTTHUMT00000045560.3	C	NM_005073		98176393	-1	no_errors	NM_005073.3	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	99378392	C	T	99378392	4	4	177	1	0	0	0	0	0	1	0	0	14398	595	21	2	1976	2	SLC15A1	13	99378392	Nonsense_Mutation	SNP	C	TCGA-AB-2993-03A-01D-0739-09	70770119	99378392	15791486	7	1981											
GPR183	1880	genome.wustl.edu	37	13	99947387	99947387	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr13:99947387G>A	ENST00000376414.4	-	2	1096	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	338			A -> V (in an acute myeloid leukemia sample; somatic mutation). {ECO:0000269|PubMed:18987736}.		G-protein coupled receptor signaling pathway (GO:0007186)|humoral immune response (GO:0006959)|immune response (GO:0006955)|mature B cell differentiation involved in immune response (GO:0002313)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|oxysterol binding (GO:0008142)	p.A338V(3)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TTCTTCAGGGGCTGACTTCAC	0.378																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	13											123	119	120					13																	99947387		2203	4300	6503	98745388	SO:0001583	missense	0			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508		"GPCR / Class A : Orphans"	3128	protein-coding gene	gene with protein product	"EBV-induced G-protein coupled receptor 2"	605741	"Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)"	EBI2		8383238	Standard	NM_004951		Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.1013C>T	13.37:g.99947387G>A	ENSP00000365596:p.Ala338Val	7168	20.4166666666667	1857		27	62.5	45	98745388	4671	47.1566666666667	3872	B2R8N5|Q53F99|Q5JUH7	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.A338V	ENST00000376414.4	37	c.1013	CCDS9492.1	13	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169651	0.57584	.	.	ENSG00000169508	ENST00000376414	T	0.38077	1.16	5.9	5.05	0.67936	.	0.253544	0.40385	N	0.001118	T	0.24122	0.0584	L	0.27053	0.805	0.43364	D	0.995441	B	0.14012	0.009	B	0.09377	0.004	T	0.06570	-1.0819	9	.	.	.	.	10.5696	0.45192	0.07:0.0:0.7895:0.1405	.	338	P32249	GP183_HUMAN	V	338	ENSP00000365596:A338V	.	A	-	2	0	GPR183	98745388	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.178000	0.58284	1.499000	0.48617	0.650000	0.86243	GCC	-	superfamily_SSF81321		0.378	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR183	protein_coding	OTTHUMT00000045582.2	G	NM_004951		98745388	-1	no_errors	NM_004951.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	99947387	G	A	99947387	3	1	177	1	0	0	0	0	1	0	0	0	6678	1203	42	2	76	2	GPR183	13	99947387	Missense_Mutation	SNP	G	TCGA-AB-2993-03A-01D-0739-09	568995	99947387	15222491	8	1982											
CDH24	64403	genome.wustl.edu	37	14	23518426	23518426	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr14:23518426G>T	ENST00000267383.5	-	11	1862	c.1770C>A	c.(1768-1770)taC>taA	p.Y590*	CDH24_ENST00000487137.2_Nonsense_Mutation_p.Y552*|CDH24_ENST00000554034.1_Nonsense_Mutation_p.Y552*|CDH24_ENST00000397359.3_Nonsense_Mutation_p.Y590*|CDH24_ENST00000485922.1_5'UTR			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	590	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)	p.Y552*(3)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TGGGAACCAAGTAGGGGGCAT	0.647																																						dbGAP											3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	14											12	16	14					14																	23518426		2191	4275	6466	22588266	SO:0001587	stop_gained	0			AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"Cadherins / Major cadherins"	14265	protein-coding gene	gene with protein product			"cadherin-like 24"			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1770C>A	14.37:g.23518426G>T	ENSP00000267383:p.Tyr590*	4577	15.62	1166		3	40	2	22588266	4405	46.8733333333333	5022	D3DS44|Q86UP1|Q9NT84	Nonsense_Mutation	SNP	HMMPfam_Cadherin_C,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like	p.Y590*	ENST00000267383.5	37	c.1770	CCDS9585.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.908988	0.97928	.	.	ENSG00000139880	ENST00000397359;ENST00000487137;ENST00000554034;ENST00000267383	.	.	.	5.06	3.18	0.36537	.	0.374952	0.24557	N	0.037514	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.954	0.14029	0.1956:0.1714:0.633:0.0	.	.	.	.	X	590;552;552;590	.	ENSP00000267383:Y590X	Y	-	3	2	CDH24	22588266	1.000000	0.71417	0.993000	0.49108	0.978000	0.69477	2.954000	0.49113	0.678000	0.31325	-0.150000	0.13652	TAC	-	HMMPfam_Cadherin,superfamily_Cadherin-like		0.647	CDH24-006	KNOWN	basic|CCDS	protein_coding	CDH24	protein_coding	OTTHUMT00000257241.2	G	NM_022478		22588266	-1	no_errors	NM_022478.3	genbank	human	validated	54_36p	nonsense	SNP	0.998	T	T	23518426	G	T	23518426	4	4	177	1	0	0	0	0	0	1	0	0	3109	1024	36	4	697	4	CDH24	14	23518426	Nonsense_Mutation	SNP	G	TCGA-AB-2993-03A-01D-0739-09		23518426	83831114	9	1983											
PDXDC1	23042	genome.wustl.edu	37	16	15122791	15122791	+	Missense_Mutation	SNP	G	G	A	rs376863120		TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr16:15122791G>A	ENST00000396410.4	+	15	1358	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	PDXDC1_ENST00000455313.2_Missense_Mutation_p.E398K|PDXDC1_ENST00000535621.2_Missense_Mutation_p.E421K|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E393K|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E439K|PDXDC1_ENST00000325823.7_Missense_Mutation_p.E406K|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E330K|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E394K	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	421					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.E421K(3)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTCGGCCGGGAGAGGCACTC	0.587																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	16						G	LYS/GLU	0,4394		0,0,2197	93	80	84		1261	4.2	1	16		84	1,8599		0,1,4299	no	missense	PDXDC1	NM_015027.2	56	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	421/789	15122791	1,12993	2197	4300	6497	15030292	SO:0001583	missense	0			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.1261G>A	16.37:g.15122791G>A	ENSP00000379691:p.Glu421Lys	8684	8.48	778		44	26.23	16	15030292	12623	28.0866666666667	4597	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	HMMPfam_Pyridoxal_deC,superfamily_PLP-dependent transferases	p.E421K	ENST00000396410.4	37	c.1261	CCDS32393.1	16	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894137	0.33442	0.0	1.16E-4	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000535621;ENST00000396410;ENST00000450288;ENST00000537781;ENST00000455313	T;T;T;T;T;T	0.26810	1.72;2.24;2.23;1.71;1.72;1.79	5.23	4.25	0.50352	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.145401	0.64402	D	0.000011	T	0.24624	0.0597	M	0.65975	2.015	0.50467	D	0.999874	B;B;B;B;B;B	0.26672	0.039;0.156;0.034;0.022;0.039;0.061	B;B;B;B;B;B	0.24848	0.015;0.024;0.035;0.015;0.015;0.056	T	0.04191	-1.0970	10	0.20519	T	0.43	-18.0485	8.8256	0.35052	0.0821:0.1515:0.7664:0.0	.	393;330;421;393;421;398	E7EPL4;E7EMH5;Q86XE2;B4DR55;Q6P996;Q6P996-2	.;.;.;.;PDXD1_HUMAN;.	K	406;330;421;421;393;127;398	ENSP00000322807:E406K;ENSP00000400310:E330K;ENSP00000437835:E421K;ENSP00000379691:E421K;ENSP00000391147:E393K;ENSP00000406703:E398K	ENSP00000322807:E406K	E	+	1	0	PDXDC1	15030292	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	3.044000	0.49830	1.294000	0.44707	0.655000	0.94253	GAG	-	superfamily_PLP-dependent transferases		0.587	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXDC1	protein_coding	OTTHUMT00000389065.2	G	NM_015027		15030292	1	no_errors	NM_015027.2	genbank	human	validated	54_36p	missense	SNP	0.936	A	A	15122791	G	A	15122791	3	1	177	1	0	0	0	0	1	0	0	0	11696	1175	41	2	1319	2	PDXDC1	16	15122791	Missense_Mutation	SNP	G	TCGA-AB-2993-03A-01D-0739-09		15122791	75231962	10	1984											
PTPRT	11122	genome.wustl.edu	37	20	40730840	40730840	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr20:40730840G>A	ENST00000373187.1	-	26	3637	c.3638C>T	c.(3637-3639)cCt>cTt	p.P1213L	PTPRT_ENST00000356100.2_Missense_Mutation_p.P1222L|PTPRT_ENST00000373201.1_Missense_Mutation_p.P1203L|PTPRT_ENST00000373193.3_Missense_Mutation_p.P1216L|PTPRT_ENST00000373184.1_Missense_Mutation_p.P1223L|PTPRT_ENST00000373198.4_Missense_Mutation_p.P1232L|PTPRT_ENST00000373190.1_Missense_Mutation_p.P1212L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1213	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.		P -> L (in an acute myeloid leukemia sample; somatic mutation). {ECO:0000269|PubMed:18987736}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.P1235L(3)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCGGTCCAGAGGCAGCACGTC	0.577																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	20											80	84	83					20																	40730840		2149	4273	6422	40164254	SO:0001583	missense	0			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3638C>T	20.37:g.40730840G>A	ENSP00000362283:p.Pro1213Leu	7222	20.2533333333333	1981					40164254	6478	45.2433333333333	5396	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMPfam_MAM,HMMSmart_SM00137,PatternScan_MAM_1,HMMSmart_SM00404,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,PatternScan_TYR_PHOSPHATASE_1,superfamily_Immunoglobulin,superfamily_(Phosphotyrosine protein) phosphatases II	p.P1232L	ENST00000373187.1	37	c.3695	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567279	0.86439	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.48	5.48	0.80851	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.060296	0.64402	D	0.000003	T	0.52869	0.1761	H	0.94847	3.59	0.80722	D	1	P;P	0.51933	0.949;0.929	P;P	0.59825	0.786;0.864	T	0.66850	-0.5819	10	0.87932	D	0	.	19.354	0.94404	0.0:0.0:1.0:0.0	.	1235;1213	O14522-1;O14522	.;PTPRT_HUMAN	L	1212;1213;1216;1222;1235;1223;1203	ENSP00000362286:P1212L;ENSP00000362283:P1213L;ENSP00000362289:P1216L;ENSP00000348408:P1222L;ENSP00000362294:P1235L;ENSP00000362280:P1223L;ENSP00000362297:P1203L	ENSP00000348408:P1222L	P	-	2	0	PTPRT	40164254	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.588000	0.87417	0.650000	0.86243	CCT	-	HMMPfam_Y_phosphatase,HMMSmart_SM00194,superfamily_(Phosphotyrosine protein) phosphatases II		0.577	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	protein_coding	OTTHUMT00000080315.1	G			40164254	-1	no_errors	NM_133170.5	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	40730840	G	A	40730840	3	1	177	1	0	0	0	0	1	0	0	0	12812	1000	35	2	711	2	PTPRT	20	40730840	Missense_Mutation	SNP	G	TCGA-AB-2993-03A-01D-0739-09		40730840	22294680	11	1985											
DSCAM	1826	genome.wustl.edu	37	21	41414445	41414445	+	Silent	SNP	A	A	G			TCGA-AB-2993-03A-01D-0739-09	TCGA-AB-2993-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	4e956c79-d82b-4d89-9d05-7133e0caf740	c537a524-b89a-4738-8bbe-b00f335d4a75	g.chr21:41414445A>G	ENST00000400454.1	-	32	6016	c.5539T>C	c.(5539-5541)Ttg>Ctg	p.L1847L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1847					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L1847L(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTGCCGTCAACTGCTCCGAT	0.562																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	21											203	195	197					21																	41414445		2134	4238	6372	40336315	SO:0001819	synonymous_variant	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5539T>C	21.37:g.41414445A>G		8549	14.9733333333333	1538					40336315	7622	50.64	7923	O60468	Silent	SNP	HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.L1847	ENST00000400454.1	37	c.5539	CCDS42929.1	21																																																																																			-	NULL		0.562	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	A	NM_001389		40336315	-1	no_errors	NM_001389.3	genbank	human	validated	54_36p	silent	SNP	1.000	G	G	41414445	A	G	41414445	2	3	177	1	0	0	0	0	0	0	0	1	4768	40	2	3		3	DSCAM	21	41414445	Silent	SNP	A	TCGA-AB-2993-03A-01D-0739-09		41414445	6715450	12	1986											
BTBD8	284697	genome.wustl.edu	37	1	92612781	92612781	+	Silent	SNP	T	T	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr1:92612781T>A	ENST00000342818.3	+	8	1211	c.975T>A	c.(973-975)atT>atA	p.I325I	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	325						nucleus (GO:0005634)		p.I325I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GCCTGATTATTGCTCATTCAG	0.328																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											173	170	171					1																	92612781		2203	4300	6503	92385369	SO:0001819	synonymous_variant	0			AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"BTB/POZ domain containing"	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.975T>A	1.37:g.92612781T>A		608	1.46	9		2	33.33	1	92385369	895	36.07	505	Q6V9S5	Silent	SNP	HMMSmart_SM00225,superfamily_POZ domain,HMMPfam_BTB	p.I325	ENST00000342818.3	37	c.975	CCDS737.1	1																																																																																			-	NULL		0.328	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD8	protein_coding	OTTHUMT00000028372.1	T	NM_183242		92385369	1	no_errors	NM_183242.3	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	92612781	T	A	92612781	2	1	178	1	0	0	0	0	0	0	0	1	1547	1800	63	5		5	BTBD8	1	92612781	Silent	SNP	T	TCGA-AB-2994-03A-01D-0739-09		92612781	156637840	1	1987											
ZC3H8	84524	genome.wustl.edu	37	2	112994154	112994154	+	Silent	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr2:112994154G>A	ENST00000409573.2	-	4	618	c.489C>T	c.(487-489)agC>agT	p.S163S	ZC3H8_ENST00000272570.5_Silent_p.S163S			Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	163					apoptotic process (GO:0006915)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to antibiotic (GO:0046677)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|T cell homeostasis (GO:0043029)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S163S(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	7						CCTGTGAGCCGCTGTTCCTCA	0.428																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											180	175	177					2																	112994154		1916	4125	6041	112710625	SO:0001819	synonymous_variant	0			AF334161	CCDS46392.1	2q13	2012-07-05	2005-06-02	2005-06-02	ENSG00000144161	ENSG00000144161		"Zinc fingers, CCCH-type domain containing"	30941	protein-coding gene	gene with protein product			"zinc finger CCCH-type domain containing 8"	ZC3HDC8		12477932	Standard	NM_032494		Approved	Fliz1	uc021vmw.1	Q8N5P1	OTTHUMG00000153270	ENST00000409573.2:c.489C>T	2.37:g.112994154G>A		1187	2.78	34		5	54.55	6	112710625	1246	33.99	642	Q9BZ75	Silent	SNP	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1	p.S163	ENST00000409573.2	37	c.489	CCDS46392.1	2																																																																																			-	NULL		0.428	ZC3H8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H8	protein_coding	OTTHUMT00000330521.3	G	NM_032494		112710625	-1	no_errors	NM_032494.2	genbank	human	validated	54_36p	silent	SNP	0.000	A	A	112994154	G	A	112994154	2	1	178	1	0	0	0	0	0	0	0	1	17571	1078	38	1		1	ZC3H8	2	112994154	Silent	SNP	G	TCGA-AB-2994-03A-01D-0739-09		112994154	130205219	2	1988											
ODZ2	57451	genome.wustl.edu	37	5	167689115	167689115	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr5:167689115G>T	ENST00000518659.1	+	29	7664	c.7625G>T	c.(7624-7626)gGa>gTa	p.G2542V	TENM2_ENST00000545108.1_Missense_Mutation_p.G2541V|TENM2_ENST00000519204.1_Missense_Mutation_p.G2421V|TENM2_ENST00000520394.1_Missense_Mutation_p.G2303V|TENM2_ENST00000403607.2_Missense_Mutation_p.G2366V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2542					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.G2375V(1)									GCTCTGGAAGGACAGGTCATT	0.498																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											52	51	52					5																	167689115		1985	4156	6141	167621693	SO:0001583	missense	0			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"odz, odd Oz/ten-m homolog 2 (Drosophila)"	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7625G>T	5.37:g.167689115G>T	ENSP00000429430:p.Gly2542Val	1844	2.84	54					167621693	969	36.29	553	Q9ULU2	Missense_Mutation	SNP	HMMPfam_NHL,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_RHS_repeat,superfamily_Carboxypeptidase regulatory domain,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Ten_N,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_NHL repeat,superfamily_EGF/Laminin	p.G2541V	ENST00000518659.1	37	c.7622		5	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898605	0.72639	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89270	-2.02;-2.01;-2.12;-2.47;-2.49	5.42	5.42	0.78866	.	0.094317	0.64402	D	0.000001	D	0.92227	0.7535	L	0.44542	1.39	0.80722	D	1	D;D;D	0.89917	0.996;0.984;1.0	D;P;D	0.87578	0.931;0.737;0.998	D	0.89787	0.3965	10	0.26408	T	0.33	.	19.5868	0.95493	0.0:0.0:1.0:0.0	.	2541;2542;2303	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	2542;2541;2421;2303;2366	ENSP00000429430:G2542V;ENSP00000438635:G2541V;ENSP00000428964:G2421V;ENSP00000427874:G2303V;ENSP00000384905:G2366V	ENSP00000384905:G2366V	G	+	2	0	ODZ2	167621693	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.809000	0.99208	2.694000	0.91930	0.655000	0.94253	GGA	-	NULL		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ODZ2	protein_coding	OTTHUMT00000376096.1	G	NM_001122679		167621693	1	no_errors	ENST00000388903	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	167689115	G	T	167689115	3	4	178	1	0	0	0	0	1	0	0	0	10835	1174	41	4	7712	4	ODZ2	5	167689115	Missense_Mutation	SNP	G	TCGA-AB-2994-03A-01D-0739-09		167689115	13226145	3	1989											
C6orf142	90523	genome.wustl.edu	37	6	53989598	53989598	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr6:53989598G>A	ENST00000274897.5	+	3	660	c.547G>A	c.(547-549)Gat>Aat	p.D183N	MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Missense_Mutation_p.D177N|MLIP_ENST00000370876.2_Missense_Mutation_p.D121N|MLIP_ENST00000514921.1_Missense_Mutation_p.D183N|MLIP_ENST00000509997.1_Missense_Mutation_p.D131N|MLIP_ENST00000502396.1_Missense_Mutation_p.D194N|MLIP_ENST00000370877.2_Missense_Mutation_p.D131N	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	183						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.D183N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ACAGGGGACTGATCTCAAGAC	0.542																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											69	61	64					6																	53989598		2203	4300	6503	54097557	SO:0001583	missense	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"muscle-enriched A-type lamin interacting protein"	614106	"chromosome 6 open reading frame 142"	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.547G>A	6.37:g.53989598G>A	ENSP00000274897:p.Asp183Asn	1236	1.04	13					54097557	1051	34.48	553	B7Z2N0|D6RE05|Q96H08|Q96NF7	Missense_Mutation	SNP	NULL	p.D183N	ENST00000274897.5	37	c.547	CCDS4954.1	6	.	.	.	.	.	.	.	.	.	.	G	13.26	2.182837	0.38511	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000447836;ENST00000511678;ENST00000503951;ENST00000502396;ENST00000358276;ENST00000370878;ENST00000514433	T;T;T;T;T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.68	2.73	0.32206	.	0.357777	0.28940	N	0.013658	T	0.38427	0.1040	M	0.68952	2.095	0.09310	N	1	B;B;P;D;B	0.71674	0.008;0.027;0.607;0.998;0.021	B;B;B;D;B	0.66351	0.01;0.04;0.187;0.943;0.013	T	0.23619	-1.0183	9	.	.	.	-0.1376	5.1448	0.14979	0.1991:0.1659:0.635:0.0	.	194;194;121;183;183	Q5VWP3-3;B7ZA42;Q5VWP3-2;Q5VWP3;D6RE05	.;.;.;MLIP_HUMAN;.	N	183;183;131;131;121;65;65;142;194;177;65;184	ENSP00000274897:D183N;ENSP00000425142:D183N;ENSP00000359914:D131N;ENSP00000427584:D131N;ENSP00000359913:D121N;ENSP00000411917:D65N;ENSP00000427057:D65N;ENSP00000426830:D142N;ENSP00000426290:D194N;ENSP00000351019:D177N;ENSP00000421444:D184N	.	D	+	1	0	MLIP	54097557	0.124000	0.22315	0.007000	0.13788	0.556000	0.35491	1.664000	0.37439	0.242000	0.21303	0.650000	0.86243	GAT	-	NULL		0.542	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf142	protein_coding	OTTHUMT00000040979.3	G	NM_138569		54097557	1	no_errors	NM_138569.2	genbank	human	validated	54_36p	missense	SNP	0.239	A	A	53989598	G	A	53989598	3	1	178	1	0	0	0	0	1	0	0	0	2333	1290	45	2	557	2	C6orf142	6	53989598	Missense_Mutation	SNP	G	TCGA-AB-2994-03A-01D-0739-09		53989598	117125469	4	1990											
ARHGAP39	80728	genome.wustl.edu	37	8	145772894	145772894	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr8:145772894G>C	ENST00000276826.5	-	4	1777	c.1576C>G	c.(1576-1578)Cag>Gag	p.Q526E	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q526E|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q526E|ARHGAP39_ENST00000528810.1_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	526					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.Q526E(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CACGGGGGCTGTTCCTCGGCC	0.726																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	8											4	5	5					8																	145772894		1975	3984	5959	145743702	SO:0001583	missense	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"Rho GTPase activating proteins"	29351	protein-coding gene	gene with protein product	"RhoGAP93B homolog (Drosophila)", "crossGAP homolog (Drosophila)"	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1576C>G	8.37:g.145772894G>C	ENSP00000276826:p.Gln526Glu	176	2.22	4					145743702	149	28.37	59	B4E1I1	Missense_Mutation	SNP	HMMPfam_RhoGAP,HMMSmart_SM00324,HMMPfam_MyTH4,HMMSmart_SM00139,HMMPfam_WW,HMMSmart_SM00456,superfamily_WW domain,superfamily_GTPase activation domain GAP	p.Q526E	ENST00000276826.5	37	c.1576		8	.	.	.	.	.	.	.	.	.	.	G	4.227	0.040988	0.08196	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.67865	-0.29;-0.03;-0.29	5.29	4.4	0.53042	.	0.449602	0.23666	N	0.045779	T	0.43986	0.1272	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23368	-1.0190	10	0.23891	T	0.37	-15.9192	11.0985	0.48160	0.0:0.0:0.665:0.335	.	526;526	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	E	526	ENSP00000276826:Q526E;ENSP00000366522:Q526E;ENSP00000445075:Q526E	ENSP00000276826:Q526E	Q	-	1	0	ARHGAP39	145743702	0.001000	0.12720	0.003000	0.11579	0.048000	0.14542	0.842000	0.27627	1.201000	0.43203	0.655000	0.94253	CAG	-	NULL		0.726	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	KIAA1688	protein_coding	OTTHUMT00000382509.1	G			145743702	-1	no_errors	NM_025251.1	genbank	human	validated	54_36p	missense	SNP	0.411	C	C	145772894	G	C	145772894	3	2	178	1	0	0	0	0	1	0	0	0	884	1386	48	4	1800	4	ARHGAP39	8	145772894	Missense_Mutation	SNP	G	TCGA-AB-2994-03A-01D-0739-09		145772894	591128	5	1991											
ZNF34	80778	genome.wustl.edu	37	8	146003442	146003442	+	Silent	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr8:146003442G>A	ENST00000343459.4	-	4	269	c.204C>T	c.(202-204)taC>taT	p.Y68Y	ZNF34_ENST00000429371.2_Silent_p.Y47Y			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	68	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y68Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTAGGTTCCCGTAGGTCTCCA	0.647																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	8											37	40	39					8																	146003442		2180	4290	6470	145974246	SO:0001819	synonymous_variant	0			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"Zinc fingers, C2H2-type", "-"	13098	protein-coding gene	gene with protein product		194526	"zinc finger protein 34 (KOX 32)"			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.204C>T	8.37:g.146003442G>A		777	2.26	18		3	50	3	145974246	565	36.16	320	D3DWN1|Q9BSZ0	Silent	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.Y68	ENST00000343459.4	37	c.204	CCDS47945.1	8																																																																																			-	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352)		0.647	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	protein_coding	OTTHUMT00000382936.1	G	NM_030580		145974246	-1	no_errors	NM_030580.3	genbank	human	validated	54_36p	silent	SNP	0.090	A	A	146003442	G	A	146003442	2	1	178	1	0	0	0	0	0	0	0	1	17853	1140	40	1		1	ZNF34	8	146003442	Silent	SNP	G	TCGA-AB-2994-03A-01D-0739-09	230548	146003442	360580	6	1992											
PNPLA7	375775	genome.wustl.edu	37	9	140358840	140358840	+	Silent	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr9:140358840G>A	ENST00000277531.4	-	26	3219	c.3033C>T	c.(3031-3033)gcC>gcT	p.A1011A	PNPLA7_ENST00000406427.1_Silent_p.A1036A|PNPLA7_ENST00000371457.1_Silent_p.A617A|PNPLA7_ENST00000492278.1_5'UTR	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1011	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.A1011A(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGTTGAAGCCGGCTCCGGAGA	0.607																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	9											174	169	171					9																	140358840		2203	4300	6503	139478661	SO:0001819	synonymous_variant	0			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"Patatin-like phospholipase domain containing"	24768	protein-coding gene	gene with protein product		612122	"chromosome 9 open reading frame 111"	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3033C>T	9.37:g.140358840G>A		316	0.94	3		8	33.33	4	139478661	139	36.94	82	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like,superfamily_cAMP-binding domain-like	p.A1036	ENST00000277531.4	37	c.3108	CCDS7045.1	9																																																																																			-	HMMPfam_Patatin,superfamily_FabD/lysophospholipase-like		0.607	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	protein_coding	OTTHUMT00000254787.1	G	NM_152286		139478661	-1	no_errors	NM_001098537.1	genbank	human	validated	54_36p	silent	SNP	0.336	A	A	140358840	G	A	140358840	2	1	178	1	0	0	0	0	0	0	0	1	12170	1103	39	1		1	PNPLA7	9	140358840	Silent	SNP	G	TCGA-AB-2994-03A-01D-0739-09		140358840	854591	7	1993											
SOX5	6660	genome.wustl.edu	37	12	23689406	23689406	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr12:23689406G>A	ENST00000451604.2	-	14	2070	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W	SOX5_ENST00000541536.1_Missense_Mutation_p.R536W|SOX5_ENST00000396007.2_Missense_Mutation_p.R271W|SOX5_ENST00000309359.1_Missense_Mutation_p.R644W|SOX5_ENST00000546136.1_Missense_Mutation_p.R644W|SOX5_ENST00000381381.2_Missense_Mutation_p.R536W|SOX5_ENST00000537393.1_Missense_Mutation_p.R622W|SOX5_ENST00000545921.1_Missense_Mutation_p.R647W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	657					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R657W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AAGTACTGCCGCATTTCCTGC	0.458																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											101	83	89					12																	23689406		2203	4300	6503	23580673	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"SRY (sex determining region Y)-boxes"	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1969C>T	12.37:g.23689406G>A	ENSP00000398273:p.Arg657Trp	781	3.22	26					23580673	1133	24.52	368	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	HMMPfam_HMG_box,HMMSmart_SM00398,superfamily_HMG-box,PatternScan_TONB_DEPENDENT_REC_1	p.R657W	ENST00000451604.2	37	c.1969	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803548	0.70682	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.38	3.28	0.37604	.	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	M	0.77486	2.375	0.34377	D	0.692736	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.953;0.998;0.996	T	0.75988	-0.3123	10	0.72032	D	0.01	.	6.7286	0.23371	0.0917:0.0:0.5422:0.366	.	536;657;271	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	W	644;644;536;657;622;536;271;647	ENSP00000437487:R644W;ENSP00000308927:R644W;ENSP00000370788:R536W;ENSP00000398273:R657W;ENSP00000439832:R622W;ENSP00000441973:R536W;ENSP00000379328:R271W;ENSP00000443520:R647W	ENSP00000308927:R644W	R	-	1	2	SOX5	23580673	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.559000	0.45888	1.406000	0.46857	0.650000	0.86243	CGG	-	NULL		0.458	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	protein_coding	OTTHUMT00000402006.2	G	NM_006940		23580673	-1	no_errors	NM_006940.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	23689406	G	A	23689406	3	1	178	1	0	0	0	0	1	0	0	0	14954	1086	38	1	330	1	SOX5	12	23689406	Missense_Mutation	SNP	G	TCGA-AB-2994-03A-01D-0739-09		23689406	110162489	8	1994											
SCARB1	949	genome.wustl.edu	37	12	125302136	125302136	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr12:125302136C>T	ENST00000415380.2	-	2	369	c.244G>A	c.(244-246)Gag>Aag	p.E82K	SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.E41K|SCARB1_ENST00000261693.6_Missense_Mutation_p.E82K|SCARB1_ENST00000544327.1_Missense_Mutation_p.E28K|SCARB1_ENST00000540495.1_Missense_Mutation_p.E45K|SCARB1_ENST00000339570.5_Missense_Mutation_p.E82K|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000546215.1_Missense_Mutation_p.E82K			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	82					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.E82K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TGCGGCTTCTCGCCCTTCAGG	0.617																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											60	62	61					12																	125302136		2203	4300	6503	123868089	SO:0001583	missense	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.244G>A	12.37:g.125302136C>T	ENSP00000414979:p.Glu82Lys	1377	0.79	11		14	17.65	3	123868089	703	35	379	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	HMMPfam_CD36	p.E82K	ENST00000415380.2	37	c.244		12	.	.	.	.	.	.	.	.	.	.	C	9.455	1.091504	0.20471	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7;-0.7	5.44	-2.47	0.06442	.	0.556583	0.19700	N	0.108052	T	0.62109	0.2401	L	0.60904	1.88	0.35443	D	0.795077	B;B;B;B;B;B	0.27166	0.126;0.126;0.126;0.126;0.17;0.103	B;B;B;B;B;B	0.26416	0.069;0.043;0.017;0.017;0.016;0.01	T	0.53732	-0.8397	10	0.42905	T	0.14	-5.1171	11.9769	0.53098	0.0:0.339:0.5395:0.1215	.	41;82;82;82;82;82	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	K	82;82;82;82;41;28;45;82	ENSP00000343795:E82K;ENSP00000414979:E82K;ENSP00000261693:E82K;ENSP00000442862:E82K;ENSP00000446107:E41K;ENSP00000444851:E28K;ENSP00000443286:E45K;ENSP00000443454:E82K	ENSP00000261693:E82K	E	-	1	0	SCARB1	123868089	0.005000	0.15991	0.052000	0.19188	0.035000	0.12851	1.165000	0.31822	-0.903000	0.03881	-0.314000	0.08810	GAG	-	HMMPfam_CD36		0.617	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	protein_coding	OTTHUMT00000400165.1	C	NM_005505		123868089	-1	no_errors	NM_005505.1	genbank	human	validated	54_36p	missense	SNP	0.995	T	T	125302136	C	T	125302136	3	4	178	1	0	0	0	0	1	0	0	0	13881	893	31	1	1453	1	SCARB1	12	125302136	Missense_Mutation	SNP	C	TCGA-AB-2994-03A-01D-0739-09	101612730	125302136	8549759	9	1995											
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1800dupTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Asp593_Tyr599dup								27506255				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAA	ATCATATTCATATTCTCTGAA	28608256	-	ATCATATTCATATTCTCTGAA	28608255	7	5	178	1	0	1	1	0	0	0	0	0	5942	942	33	0	1224	0	FLT3	13	28608255	In_Frame_Ins	INS	-	TCGA-AB-2994-03A-01D-0739-09		28608255	86561623	10	1996											
NUBP2	10101	genome.wustl.edu	37	16	1836557	1836557	+	Silent	SNP	C	C	T	rs140358532		TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr16:1836557C>T	ENST00000262302.9	+	2	156	c.36C>T	c.(34-36)ggC>ggT	p.G12G	NUBP2_ENST00000568706.1_5'UTR|NUBP2_ENST00000565134.1_Silent_p.G12G|NUBP2_ENST00000543305.1_5'UTR|NUBP2_ENST00000565987.1_5'UTR	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1			nucleotide binding protein 2									p.G12G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						ACCTGGCCGGCGTCAGGCACA	0.642													C|||	1	0.000199681	0	0.0014	5008	,	,		17808	0		0	False		,,,				2504	0					dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	16						C		0,4396		0,0,2198	64	60	62		36	-2.8	0.1	16	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUBP2	NM_012225.2		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		12/272	1836557	1,12995	2198	4300	6498	1776558	SO:0001819	synonymous_variant	0			AF118394	CCDS10445.1, CCDS66898.1	16p13.3	2011-05-19	2011-05-19		ENSG00000095906	ENSG00000095906			8042	protein-coding gene	gene with protein product		610779	"nucleotide binding protein 2 (E.coli MinD like)", "nucleotide binding protein 2 (MinD homolog, E. coli)"			10486206	Standard	XM_005255025		Approved	CFD1	uc002cmw.4	Q9Y5Y2	OTTHUMG00000128639	ENST00000262302.9:c.36C>T	16.37:g.1836557C>T		205	2.38	5		13	45.83	11	1776558	127	40.93	88		Silent	SNP	PatternScan_MRP,HMMPfam_ParA,superfamily_SSF52540	p.G12	ENST00000262302.9	37	c.36	CCDS10445.1	16																																																																																			-	superfamily_SSF52540		0.642	NUBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBP2	protein_coding	OTTHUMT00000250510.1	C	NM_012225		1776558	1	no_errors	NM_012225.2	genbank	human	validated	54_36p	silent	SNP	0.837	T	T	1836557	C	T	1836557	2	4	178	1	0	0	0	0	0	0	0	1	10716	755	27	1		1	NUBP2	16	1836557	Silent	SNP	C	TCGA-AB-2994-03A-01D-0739-09		1836557	88518196	11	1997											
HYDIN	54768	genome.wustl.edu	37	16	70977790	70977790	+	Silent	SNP	G	G	A			TCGA-AB-2994-03A-01D-0739-09	TCGA-AB-2994-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	679dce85-9fdc-4864-876b-189e068c0e2e	b4be30b8-0ab5-4acc-8259-2aef68c178be	g.chr16:70977790G>A	ENST00000393567.2	-	42	6744	c.6594C>T	c.(6592-6594)gtC>gtT	p.V2198V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2198					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.V2197V(1)|p.V2149V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTCGCCTCCGACACTGGGAC	0.612																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	16											34	35	35					16																	70977790		2015	4180	6195	69535291	SO:0001819	synonymous_variant	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	19368	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 31"	610812	"hydrocephalus inducing", "hydrocephalus inducing homolog (mouse)"			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.6594C>T	16.37:g.70977790G>A		948	1.14	11					69535291	1795	21.53	493	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V2197	ENST00000393567.2	37	c.6591	CCDS59269.1	16																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.612	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	G			69535291	-1	no_errors	NM_032821.2	genbank	human	validated	54_36p	silent	SNP	0.016	A	A	70977790	G	A	70977790	2	1	178	1	0	0	0	0	0	0	0	1	7467	1045	37	1		1	HYDIN	16	70977790	Silent	SNP	G	TCGA-AB-2994-03A-01D-0739-09	69141233	70977790	19376963	12	1998											
GSTM3	2947	genome.wustl.edu	37	1	110280813	110280813	+	Splice_Site	SNP	C	C	A			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr1:110280813C>A	ENST00000540225.1	-	6	582	c.272G>T	c.(271-273)tGt>tTt	p.C91F	GSTM3_ENST00000256594.3_Splice_Site_p.C91F|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Splice_Site_p.C91F			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	91	GST N-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.C91F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	AGTCTCACCACCTGTAGGCCA	0.488																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											200	188	192					1																	110280813		2203	4300	6503	110082336	SO:0001630	splice_region_variant	0			BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"Glutathione S-transferases / Soluble"	4635	protein-coding gene	gene with protein product		138390	"glutathione S-transferase M3 (brain)"			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.272-1G>T	1.37:g.110280813C>A		324	0	0		16	61.9	26	110082336	917	18.4	207	O60550|Q96HA3	Missense_Mutation	SNP	HMMPfam_GST_N,HMMPfam_GST_C,superfamily_Glutathione S-transferase (GST) C-terminal domain,superfamily_Thioredoxin-like	p.C91F	ENST00000540225.1	37	c.272	CCDS812.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156957	0.78114	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.03580	3.88;3.88;3.88	5.26	5.26	0.73747	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (1);	0.084939	0.85682	D	0.000000	T	0.13243	0.0321	M	0.76938	2.355	0.80722	D	1	B;D;B	0.63880	0.213;0.993;0.213	B;D;B	0.71870	0.061;0.975;0.061	T	0.00316	-1.1823	10	0.87932	D	0	.	17.7962	0.88572	0.0:1.0:0.0:0.0	.	91;97;91	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	F	91	ENSP00000444978:C91F;ENSP00000256594:C91F;ENSP00000354357:C91F	ENSP00000256594:C91F	C	-	2	0	GSTM3	110082336	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.611000	0.61162	2.722000	0.93159	0.563000	0.77884	TGT	-	superfamily_Glutathione S-transferase (GST) C-terminal domain		0.488	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM3	protein_coding	OTTHUMT00000032182.1	C	NM_000849	Missense_Mutation	110082336	-1	no_errors	NM_000849.4	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	110280813	C	A	110280813	5	1	179	1	0	0	0	0	0	0	1	0	6839	521	18	4	421	4	GSTM3	1	110280813	Splice_Site	SNP	C	TCGA-AB-2995-03A-01D-0739-09		110280813	138969808	1	1999											
DDX41	51428	genome.wustl.edu	37	5	176939370	176939370	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr5:176939370C>T	ENST00000507955.1	-	15	2097	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H	DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000357198.4_5'Flank|DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	525	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R525H(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTTTCCCGAGCGCCCGGTGCG	0.612																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											92	86	88					5																	176939370		2203	4300	6503	176871976	SO:0001583	missense	0			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1574G>A	5.37:g.176939370C>T	ENSP00000422753:p.Arg525His	94	0	0		77	38.4	48	176871976	222	21.48	61	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_zf-CCHC,HMMPfam_DEAD,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R525H	ENST00000507955.1	37	c.1574	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093245	0.76756	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	D;D	0.94758	-3.51;-3.51	5.99	5.99	0.97316	Helicase, C-terminal (3);	0.055164	0.64402	D	0.000001	D	0.98704	0.9565	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99019	1.0817	10	0.87932	D	0	-18.2127	20.4753	0.99175	0.0:1.0:0.0:0.0	.	525	Q9UJV9	DDX41_HUMAN	H	543;525	ENSP00000330349:R543H;ENSP00000422753:R525H	ENSP00000330349:R543H	R	-	2	0	DDX41	176871976	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.727000	0.84838	2.844000	0.97970	0.650000	0.86243	CGC	-	HMMPfam_Helicase_C,HMMSmart_SM00490,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.612	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	protein_coding	OTTHUMT00000253432.2	C	NM_016222		176871976	-1	no_errors	NM_016222.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	176939370	C	T	176939370	3	4	179	1	0	0	0	0	1	0	0	0	4361	768	27	1	306	1	DDX41	5	176939370	Missense_Mutation	SNP	C	TCGA-AB-2995-03A-01D-0739-09		176939370	3975890	2	2000											
ZNF37A	7587	genome.wustl.edu	37	10	38406446	38406446	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr10:38406446A>G	ENST00000361085.5	+	7	712	c.367A>G	c.(367-369)Aat>Gat	p.N123D	ZNF37A_ENST00000351773.3_Missense_Mutation_p.N123D	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	123					regulation of transcription, DNA-templated (GO:0006355)|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)	p.N123D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						ATATAATAAAAATGGGAACAG	0.328																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											72	85	80					10																	38406446		2201	4297	6498	38446452	SO:0001583	missense	0			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"Zinc fingers, C2H2-type", "-"	13102	protein-coding gene	gene with protein product			"zinc finger protein 37a (KOX 21)"			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.367A>G	10.37:g.38406446A>G	ENSP00000354377:p.Asn123Asp	135	0	0		8	50	8	38446452	536	22.48	156	B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.N123D	ENST00000361085.5	37	c.367	CCDS31183.1	10	.	.	.	.	.	.	.	.	.	.	A	4.072	0.011124	0.07912	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.07444	3.19;3.19	2.62	1.36	0.22044	.	.	.	.	.	T	0.07188	0.0182	L	0.39147	1.195	0.09310	N	1	P	0.49185	0.92	B	0.41036	0.346	T	0.30208	-0.9986	9	0.59425	D	0.04	.	5.1888	0.15199	0.5167:0.0:0.0:0.4833	.	123	P17032	ZN37A_HUMAN	D	123	ENSP00000329141:N123D;ENSP00000354377:N123D	ENSP00000329141:N123D	N	+	1	0	ZNF37A	38446452	0.071000	0.21146	0.477000	0.27303	0.214000	0.24535	0.366000	0.20365	0.203000	0.20529	0.482000	0.46254	AAT	-	NULL		0.328	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	protein_coding	OTTHUMT00000047624.2	A	NM_003421		38446452	1	no_errors	NM_001007094.1	genbank	human	validated	54_36p	missense	SNP	0.808	G	G	38406446	A	G	38406446	3	3	179	1	0	0	0	0	1	0	0	0	17869	14	1	3	381	3	ZNF37A	10	38406446	Missense_Mutation	SNP	A	TCGA-AB-2995-03A-01D-0739-09		38406446	97128301	3	2001											
KCNH5	27133	genome.wustl.edu	37	14	63447847	63447847	+	Missense_Mutation	SNP	C	C	T	rs200308580		TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr14:63447847C>T	ENST00000322893.7	-	6	953	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	KCNH5_ENST00000394964.2_Missense_Mutation_p.A171T|KCNH5_ENST00000394968.1_Missense_Mutation_p.A171T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A229T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	229					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A229T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCATAATGGCGGTGTAGAAG	0.383													C|||	1	0.000199681	0	0	5008	,	,		20121	0.001		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	14											76	76	76					14																	63447847		2203	4300	6503	62517600	SO:0001583	missense	0			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.685G>A	14.37:g.63447847C>T	ENSP00000321427:p.Ala229Thr	217	0	0					62517600	1499	22.66	443	C9JP98	Missense_Mutation	SNP	HMMPfam_cNMP_binding,HMMSmart_SM00100,HMMSmart_SM00086,HMMPfam_Ion_trans,HMMPfam_PAS,superfamily_cAMP-binding domain-like,superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels	p.A229T	ENST00000322893.7	37	c.685	CCDS9756.1	14	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.228534	0.95173	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	P;D;D;D	0.87578	0.691;0.923;0.923;0.998	D	0.99445	1.0939	10	0.66056	D	0.02	.	19.2302	0.93834	0.0:1.0:0.0:0.0	.	171;171;229;229	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	T	229;229;171;171	ENSP00000321427:A229T;ENSP00000395439:A229T;ENSP00000378419:A171T;ENSP00000378415:A171T	ENSP00000321427:A229T	A	-	1	0	KCNH5	62517600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.547000	0.85894	0.585000	0.79938	GCC	-	superfamily_Voltage-gated potassium channels		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	protein_coding	OTTHUMT00000411747.1	C	NM_139318		62517600	-1	no_errors	NM_139318.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	63447847	C	T	63447847	3	4	179	1	0	0	0	0	1	0	0	0	8035	768	27	1	2339	1	KCNH5	14	63447847	Missense_Mutation	SNP	C	TCGA-AB-2995-03A-01D-0739-09		63447847	43901693	4	2002											
DNAH9	1770	genome.wustl.edu	37	17	11572785	11572785	+	Silent	SNP	C	C	T			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr17:11572785C>T	ENST00000262442.4	+	17	3095	c.3027C>T	c.(3025-3027)acC>acT	p.T1009T	DNAH9_ENST00000454412.2_Silent_p.T1009T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1009	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.T1009T(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCAGAGCACCTTCAGCCAGT	0.537																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	17											89	83	85					17																	11572785		2203	4300	6503	11513510	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3027C>T	17.37:g.11572785C>T		314	0	0					11513510	1210	21.1	325	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T1009	ENST00000262442.4	37	c.3027	CCDS11160.1	17																																																																																			-	NULL		0.537	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11513510	1	no_errors	NM_001372.3	genbank	human	reviewed	54_36p	silent	SNP	0.907	T	T	11572785	C	T	11572785	2	4	179	1	0	0	0	0	0	0	0	1	4608	668	24	2		2	DNAH9	17	11572785	Silent	SNP	C	TCGA-AB-2995-03A-01D-0739-09		11572785	69622425	5	2003											
MYLK2	85366	genome.wustl.edu	37	20	30418877	30418877	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2995-03A-01D-0739-09	TCGA-AB-2995-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	10a026ec-f343-4b63-b67e-59938e0cffac	ce73c6c8-40ab-4a3c-acd6-c22444da3567	g.chr20:30418877G>T	ENST00000375994.2	+	9	1630	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Missense_Mutation_p.V453L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	453	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.V453L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTCACCTGAGGTGGTGAATTA	0.542																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	20											108	98	101					20																	30418877		2203	4300	6503	29882538	SO:0001583	missense	0			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"skeletal muscle myosin light chain kinase"	606566	"myosin light chain kinase 2, skeletal muscle"				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	ENST00000375994.2:c.1357G>T	20.37:g.30418877G>T	ENSP00000365162:p.Val453Leu	226	0	0					29882538	511	17.29	107	Q569L1|Q96I84	Missense_Mutation	SNP	HMMSmart_S_TKc,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.V453L	ENST00000375994.2	37	c.1357	CCDS13191.1	20	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399175	0.83120	.	.	ENSG00000101306	ENST00000375994;ENST00000375985	T;T	0.68479	-0.33;-0.33	3.96	3.96	0.45880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.76414	0.3984	L	0.51422	1.61	0.53005	D	0.999961	D	0.67145	0.996	D	0.70227	0.968	T	0.79685	-0.1700	9	0.87932	D	0	.	15.0963	0.72238	0.0:0.0:1.0:0.0	.	453	Q9H1R3	MYLK2_HUMAN	L	453	ENSP00000365162:V453L;ENSP00000365152:V453L	ENSP00000365152:V453L	V	+	1	0	MYLK2	29882538	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.374000	0.73132	2.172000	0.68678	0.561000	0.74099	GTG	-	HMMSmart_S_TKc,superfamily_Kinase_like,HMMPfam_Pkinase		0.542	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYLK2	protein_coding	OTTHUMT00000078583.2	G	NM_033118		29882538	1	no_errors	NM_033118.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	30418877	G	T	30418877	3	4	179	1	0	0	0	0	1	0	0	0	10057	1261	44	4	1391	4	MYLK2	20	30418877	Missense_Mutation	SNP	G	TCGA-AB-2995-03A-01D-0739-09		30418877	32606643	6	2004											
IGSF21	84966	genome.wustl.edu	37	1	18661497	18661497	+	Silent	SNP	C	C	T	rs369333329		TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr1:18661497C>T	ENST00000251296.1	+	4	800	c.417C>T	c.(415-417)aaC>aaT	p.N139N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	139						extracellular region (GO:0005576)		p.N139N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TCTTCCTCAACGTCATGGGTG	0.592																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1						C		1,4405	2.1+/-5.4	0,1,2202	91	65	74		417	-2	1	1		74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGSF21	NM_032880.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		139/468	18661497	2,13004	2203	4300	6503	18534084	SO:0001819	synonymous_variant	0			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.417C>T	1.37:g.18661497C>T		486	1.82	9		1	0	0	18534084	315	44.37	252	Q8NBR8	Silent	SNP	HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726	p.N139	ENST00000251296.1	37	c.417	CCDS184.1	1	.	.	.	.	.	.	.	.	.	.	c	10.23	1.291784	0.23564	2.27E-4	1.16E-4	ENSG00000117154	ENST00000412684	.	.	.	5.57	-1.97	0.07503	.	.	.	.	.	T	0.55737	0.1939	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51841	-0.8654	4	.	.	.	-7.6117	10.6758	0.45785	0.0:0.5089:0.0:0.4911	.	.	.	.	C	92	.	.	R	+	1	0	IGSF21	18534084	0.005000	0.15991	0.982000	0.44146	0.993000	0.82548	-1.535000	0.02210	-0.422000	0.07405	-0.141000	0.14075	CGT	-	HMMSmart_IG,HMMPfam_V-set,superfamily_SSF48726		0.592	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF21	protein_coding	OTTHUMT00000006924.1	C	NM_032880		18534084	1	no_errors	NM_032880.2	genbank	human	provisional	54_36p	silent	SNP	0.998	T	T	18661497	C	T	18661497	2	4	180	1	0	0	0	0	0	0	0	1	7599	535	19	1		1	IGSF21	1	18661497	Silent	SNP	C	TCGA-AB-2996-03A-01D-0739-09		18661497	230589124	1	2005											
MPL	4352	genome.wustl.edu	37	1	43818405	43818405	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr1:43818405C>G	ENST00000372470.3	+	12	1912	c.1870C>G	c.(1870-1872)Cat>Gat	p.H624D	RP1-92O14.3_ENST00000424948.1_RNA	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	624					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)	p.H624D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CATTGCCAACCATTCCTACCT	0.562			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	dbGAP	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"myeloproliferative leukemia virus oncogene, thrombopoietin receptor"	yes	L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											116	104	108					1																	43818405		2203	4300	6503	43590992	SO:0001583	missense	0			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"CD molecules", "Fibronectin type III domain containing"	7217	protein-coding gene	gene with protein product		159530	"myeloproliferative leukemia virus oncogene"			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1870C>G	1.37:g.43818405C>G	ENSP00000361548:p.His624Asp	342	2.29	8		42	48.19	40	43590992	148	49.49	145	Q5JUZ0	Missense_Mutation	SNP	PatternScan_HEMATOPO_REC_L_F1,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_EpoR_lig-bind	p.H624D	ENST00000372470.3	37	c.1870	CCDS483.1	1	.	.	.	.	.	.	.	.	.	.	c	12.10	1.837299	0.32513	.	.	ENSG00000117400	ENST00000372470	D	0.82255	-1.59	3.43	2.39	0.29439	.	.	.	.	.	D	0.86623	0.5977	L	0.60455	1.87	0.80722	D	1	D;D	0.58268	0.981;0.982	D;P	0.69824	0.966;0.702	D	0.85889	0.1427	9	0.72032	D	0.01	-9.3442	7.4883	0.27447	0.0:0.845:0.0:0.155	.	617;624	Q308M1;P40238	.;TPOR_HUMAN	D	624	ENSP00000361548:H624D	ENSP00000361548:H624D	H	+	1	0	MPL	43590992	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	2.346000	0.44027	1.725000	0.51514	0.306000	0.20318	CAT	-	NULL		0.562	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPL	protein_coding	OTTHUMT00000019522.1	C	NM_005373		43590992	1	no_errors	NM_005373.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	G	G	43818405	C	G	43818405	3	3	180	1	0	0	0	0	1	0	0	0	9730	594	21	4	1916	4	MPL	1	43818405	Missense_Mutation	SNP	C	TCGA-AB-2996-03A-01D-0739-09	25156908	43818405	205432216	2	2006											
LCE1B	353132	genome.wustl.edu	37	1	152785067	152785067	+	Nonsense_Mutation	SNP	G	G	T	rs367907198		TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr1:152785067G>T	ENST00000360090.3	+	1	621	c.145G>T	c.(145-147)Gga>Tga	p.G49*		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	49	Gly-rich.				keratinization (GO:0031424)			p.G49*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCAGCTCCGGAGGCTGCTG	0.647																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	1											72	78	76					1																	152785067		2203	4300	6503	151051691	SO:0001587	stop_gained	0			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"Late cornified envelopes"	16611	protein-coding gene	gene with protein product		612604	"small proline rich-like (epidermal differentiation complex) 2A"	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.145G>T	1.37:g.152785067G>T	ENSP00000353203:p.Gly49*	70	2.78	2					151051691	91	41.88	67	A4IF40	Nonsense_Mutation	SNP	NULL	p.G49*	ENST00000360090.3	37	c.145	CCDS1027.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.424192	0.98275	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	.	.	.	4.13	3.22	0.36961	.	0.000000	0.37809	N	0.001940	.	.	.	.	.	.	0.34906	D	0.746951	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	7.9292	0.29893	0.1148:0.0:0.8852:0.0	.	.	.	.	X	49	.	ENSP00000353203:G49X	G	+	1	0	LCE1B	151051691	0.830000	0.29337	0.745000	0.31077	0.990000	0.78478	2.531000	0.45650	1.077000	0.40990	0.650000	0.86243	GGA	-	NULL		0.647	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCE1B	protein_coding	OTTHUMT00000040060.1	G	NM_178349		151051691	1	no_errors	NM_178349.1	genbank	human	validated	54_36p	nonsense	SNP	0.991	T	T	152785067	G	T	152785067	4	4	180	1	0	0	0	0	0	1	0	0	8660	1117	39	4	147	4	LCE1B	1	152785067	Nonsense_Mutation	SNP	G	TCGA-AB-2996-03A-01D-0739-09	108966662	152785067	96465554	3	2007											
LAMC1	3915	genome.wustl.edu	37	1	183085911	183085911	+	Silent	SNP	T	T	C			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr1:183085911T>C	ENST00000258341.4	+	8	1694	c.1437T>C	c.(1435-1437)ccT>ccC	p.P479P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	479	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.P479P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GATGCAAACCTGGATTTTTTA	0.383																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											112	110	111					1																	183085911		2203	4300	6503	181352534	SO:0001819	synonymous_variant	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"Laminins"	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1437T>C	1.37:g.183085911T>C		196	0	0		1	0	0	181352534	195	46.13	167	Q5VYE7	Silent	SNP	HMMPfam_Laminin_B,HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,HMMPfam_Laminin_N,HMMSmart_LamNT,superfamily_Grow_fac_recept,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_LamB,superfamily_SSF57196	p.P479	ENST00000258341.4	37	c.1437	CCDS1351.1	1																																																																																			-	HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,PatternScan_EGF_LAM_1,superfamily_Grow_fac_recept,superfamily_SSF57196		0.383	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	protein_coding	OTTHUMT00000085954.2	T	NM_002293		181352534	1	no_errors	NM_002293.3	genbank	human	reviewed	54_36p	silent	SNP	1.000	C	C	183085911	T	C	183085911	2	2	180	1	0	0	0	0	0	0	0	1	8614	1567	55	3		3	LAMC1	1	183085911	Silent	SNP	T	TCGA-AB-2996-03A-01D-0739-09	30300844	183085911	66164710	4	2008											
STK36	27148	genome.wustl.edu	37	2	219563599	219563599	+	Missense_Mutation	SNP	A	A	G	rs56278660		TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr2:219563599A>G	ENST00000295709.3	+	26	3611	c.3332A>G	c.(3331-3333)tAt>tGt	p.Y1111C	STK36_ENST00000392105.3_Missense_Mutation_p.Y1090C|STK36_ENST00000392106.2_Missense_Mutation_p.Y1090C|STK36_ENST00000440309.1_Missense_Mutation_p.Y1111C	NM_015690.4	NP_056505.2			serine/threonine kinase 36									p.Y1111C(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GATGAATCCTATCGGCCCCTG	0.592													A|||	1	0.000199681	8e-04	0	5008	,	,		19249	0		0	False		,,,				2504	0					dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2						A	CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	48	49	49		3332	6.1	1	2	dbSNP_129	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense	STK36	NM_015690.4	194	0,3,6500	GG,GA,AA		0.0233,0.0227,0.0231	probably-damaging	1111/1316	219563599	3,13003	2203	4300	6503	219271843	SO:0001583	missense	0			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"fused homolog (Drosophila)"	607652	"serine/threonine kinase 36 (fused homolog, Drosophila)"			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.3332A>G	2.37:g.219563599A>G	ENSP00000295709:p.Tyr1111Cys	331	0.6	2		1	85.71	6	219271843	175	44.44	140		Missense_Mutation	SNP	HMMPfam_HEAT,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),superfamily_ARM repeat,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.Y1111C	ENST00000295709.3	37	c.3332	CCDS2421.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.98|14.98	2.696319|2.696319	0.48202|0.48202	2.27E-4|2.27E-4	2.33E-4|2.33E-4	ENSG00000163482|ENSG00000163482	ENST00000431040|ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309	.|T;T;T;T	.|0.64803	.|0.72;0.72;-0.12;0.72	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Armadillo-type fold (1);	.|0.000000	.|0.41194	.|D	.|0.000940	T|T	0.76054|0.76054	0.3934|0.3934	M|M	0.65498|0.65498	2.005|2.005	0.40001|0.40001	D|D	0.975168|0.975168	.|D;D;D	.|0.89917	.|1.0;1.0;0.999	.|D;D;D	.|0.77004	.|0.989;0.98;0.921	T|T	0.79110|0.79110	-0.1938|-0.1938	5|10	.|0.72032	.|D	.|0.01	-12.3498|-12.3498	11.7922|11.7922	0.52075|0.52075	0.8538:0.1462:0.0:0.0|0.8538:0.1462:0.0:0.0	rs56278660|rs56278660	.|1090;1090;1111	.|A8MU99;Q9NRP7-2;Q9NRP7	.|.;.;STK36_HUMAN	V|C	304|1111;1090;1090;1111	.|ENSP00000295709:Y1111C;ENSP00000375955:Y1090C;ENSP00000375954:Y1090C;ENSP00000394095:Y1111C	.|ENSP00000295709:Y1111C	I|Y	+|+	1|2	0|0	STK36|STK36	219271843|219271843	0.995000|0.995000	0.38212|0.38212	0.999000|0.999000	0.59377|0.59377	0.445000|0.445000	0.32107|0.32107	1.193000|1.193000	0.32162|0.32162	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	ATC|TAT	-	superfamily_ARM repeat		0.592	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	protein_coding	OTTHUMT00000256723.2	A			219271843	1	no_errors	NM_015690.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	219563599	A	G	219563599	3	3	180	1	0	0	0	0	1	0	0	0	15301	449	16	3	3430	3	STK36	2	219563599	Missense_Mutation	SNP	A	TCGA-AB-2996-03A-01D-0739-09		219563599	23635774	5	2009											
TET2	54790	genome.wustl.edu	37	4	106190782	106190783	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	AG	AG	AG	-	AG	AG	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr4:106190782_106190783delAG	ENST00000540549.1	+	9	4920_4921	c.4060_4061delAG	c.(4060-4062)agafs	p.R1354fs	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Frame_Shift_Del_p.R1375fs|TET2_ENST00000380013.4_Frame_Shift_Del_p.R1354fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1354					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATATGAACACAGAGCACCAGAG	0.436			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0			4																																								106410232	SO:0001589	frameshift_variant	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4060_4061delAG	4.37:g.106190784_106190785delAG	ENSP00000442788:p.Arg1354fs	0	3.95	7		0	0	0	106410231	0	35.33	189	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Frame_Shift_Del	DEL	NULL	p.R156fs	ENST00000540549.1	37	c.466_467	CCDS47120.1	4																																																																																			-	NULL		0.436	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	AG	NM_017628		106410232	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	frame_shift_del	DEL	1.000:1.000	-	-	106190783	AG	-	106190782	7	5	180	1	0	1	0	1	0	0	0	0	15767	180	7	0	4175	0	TET2	4	106190782	Frame_Shift_Del	DEL	AG	TCGA-AB-2996-03A-01D-0739-09		106190782	84963494	6	2010											
TET2	54790	genome.wustl.edu	37	4	106197269	106197269	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr4:106197269C>T	ENST00000540549.1	+	11	6462	c.5602C>T	c.(5602-5604)Cat>Tat	p.H1868Y	TET2_ENST00000545826.1_3'UTR|TET2_ENST00000513237.1_Missense_Mutation_p.H1889Y|TET2_ENST00000380013.4_Missense_Mutation_p.H1868Y			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1868					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.H1868Y(2)|p.T1867_S1870del(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGCTCCAACTCATGGGTCAAT	0.542			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	4	Substitution - Missense(2)|Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(4)	4											57	51	53					4																	106197269		692	1591	2283	106416718	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.5602C>T	4.37:g.106197269C>T	ENSP00000442788:p.His1868Tyr	119	1.65	2		32	50.77	33	106416718	274	41.83	197	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.H670Y	ENST00000540549.1	37	c.2008	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	24.7	4.561733	0.86335	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	T;T;T	0.13778	2.56;2.56;2.56	5.43	5.43	0.79202	Methylcytosine dioxygenase TET, double-stranded beta helix fold domain (1);	.	.	.	.	T	0.43188	0.1236	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.41928	-0.9481	9	0.87932	D	0	-18.0104	19.2511	0.93926	0.0:1.0:0.0:0.0	.	1889;1868	E7EQS8;Q6N021	.;TET2_HUMAN	Y	1868;1889;1868	ENSP00000442788:H1868Y;ENSP00000425443:H1889Y;ENSP00000369351:H1868Y	ENSP00000369351:H1868Y	H	+	1	0	TET2	106416718	1.000000	0.71417	0.472000	0.27241	0.980000	0.70556	7.277000	0.78572	2.534000	0.85438	0.591000	0.81541	CAT	-	NULL		0.542	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106416718	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	missense	SNP	1.000	T	T	106197269	C	T	106197269	3	4	180	1	0	0	0	0	1	0	0	0	15767	826	29	2	5725	2	TET2	4	106197269	Missense_Mutation	SNP	C	TCGA-AB-2996-03A-01D-0739-09	6487	106197269	84957007	7	2011											
PCDHGA2	56113	genome.wustl.edu	37	5	140719342	140719342	+	Silent	SNP	C	C	T			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr5:140719342C>T	ENST00000394576.2	+	1	804	c.804C>T	c.(802-804)gaC>gaT	p.D268D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	268	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D268D(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCCACTGACGCAGATGAGG	0.507																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(1)|breast(1)	5											86	94	91					5																	140719342		2203	4300	6503	140699526	SO:0001819	synonymous_variant	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"Cadherins / Protocadherins : Clustered"	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.804C>T	5.37:g.140719342C>T		247	0.8	2					140699526	171	44.48	137	Q52LL6|Q9Y5D5	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.D268	ENST00000394576.2	37	c.804	CCDS47289.1	5																																																																																			-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.507	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	C	NM_018915		140699526	1	no_errors	NM_018915.2	genbank	human	reviewed	54_36p	silent	SNP	0.635	T	T	140719342	C	T	140719342	2	4	180	1	0	0	0	0	0	0	0	1	11554	535	19	1		1	PCDHGA2	5	140719342	Silent	SNP	C	TCGA-AB-2996-03A-01D-0739-09		140719342	40195918	8	2012											
KIAA0240	23506	genome.wustl.edu	37	6	42832492	42832492	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr6:42832492A>G	ENST00000314073.5	+	13	2724	c.2548A>G	c.(2548-2550)Agc>Ggc	p.S850G	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.S850G			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	850								p.S850G(1)									CAGTAAAGCAAGCAGCTCTCT	0.512																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											122	101	108					6																	42832492		2203	4300	6503	42940470	SO:0001583	missense	0			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"KIAA0240"	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.2548A>G	6.37:g.42832492A>G	ENSP00000313933:p.Ser850Gly	234	2.5	6		20	44.44	16	42940470	184	49.59	181	A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	NULL	p.S850G	ENST00000314073.5	37	c.2548	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	A	2.950	-0.216918	0.06101	.	.	ENSG00000112624	ENST00000394167;ENST00000314073;ENST00000394168	T;T	0.46063	0.88;0.88	5.24	-7.67	0.01272	.	1.200670	0.05794	N	0.611004	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.18561	0.022	T	0.20773	-1.0265	10	0.30854	T	0.27	-0.0119	1.6387	0.02747	0.2118:0.2985:0.3198:0.1698	.	850	Q6AI39	K0240_HUMAN	G	850	ENSP00000313933:S850G;ENSP00000377723:S850G	ENSP00000313933:S850G	S	+	1	0	KIAA0240	42940470	0.000000	0.05858	0.004000	0.12327	0.324000	0.28378	-1.039000	0.03550	-0.845000	0.04179	-0.250000	0.11733	AGC	-	NULL		0.512	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	protein_coding	OTTHUMT00000040562.3	A	NM_015349		42940470	1	no_errors	NM_015349.1	genbank	human	validated	54_36p	missense	SNP	0.002	G	G	42832492	A	G	42832492	3	3	180	1	0	0	0	0	1	0	0	0	8164	72	3	3	2590	3	KIAA0240	6	42832492	Missense_Mutation	SNP	A	TCGA-AB-2996-03A-01D-0739-09		42832492	128282575	9	2013											
ADAMTSL1	92949	genome.wustl.edu	37	9	18639381	18639381	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr9:18639381G>T	ENST00000380548.4	+	7	1145	c.806G>T	c.(805-807)gGa>gTa	p.G269V	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G269V|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.G269V|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G269V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	269						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G269A(2)|p.G269V(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGAATGGCTGGACCACTCACA	0.423																																						dbGAP											4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(2)|lung(2)	9											64	66	65					9																	18639381		2203	4299	6502	18629381	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"Immunoglobulin superfamily / I-set domain containing"	14632	protein-coding gene	gene with protein product	"punctin"	609198	"chromosome 9 open reading frame 94"	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.806G>T	9.37:g.18639381G>T	ENSP00000369921:p.Gly269Val	167	4.57	8					18629381	278	47.85	256	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_PLAC,HMMPfam_I-set,HMMPfam_ig,superfamily_Immunoglobulin	p.G269V	ENST00000380548.4	37	c.806	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065185	0.76187	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000380566;ENST00000276935	T;T;T;T	0.78364	-1.17;0.32;0.32;0.32	5.77	5.77	0.91146	.	.	.	.	.	D	0.92312	0.7561	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.978;0.998	D	0.93610	0.6938	9	0.87932	D	0	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	269;269	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	V	269	ENSP00000369921:G269V;ENSP00000327887:G269V;ENSP00000369940:G269V;ENSP00000276935:G269V	ENSP00000276935:G269V	G	+	2	0	ADAMTSL1	18629381	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.687000	0.91255	2.890000	0.99128	0.650000	0.86243	GGA	-	NULL		0.423	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	protein_coding	OTTHUMT00000401206.1	G			18629381	1	no_errors	NM_001040272.4	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	18639381	G	T	18639381	3	4	180	1	0	0	0	0	1	0	0	0	274	1174	41	4	832	4	ADAMTSL1	9	18639381	Missense_Mutation	SNP	G	TCGA-AB-2996-03A-01D-0739-09		18639381	122574050	10	2014											
FAM171A1	221061	genome.wustl.edu	37	10	15290664	15290664	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr10:15290664G>A	ENST00000378116.4	-	5	734	c.728C>T	c.(727-729)gCg>gTg	p.A243V	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	243						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.A243V(1)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGCCACGCCGCGACATAGGC	0.552																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											80	74	76					10																	15290664		2203	4300	6503	15330670	SO:0001583	missense	0			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"chromosome 10 open reading frame 38"	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.728C>T	10.37:g.15290664G>A	ENSP00000367356:p.Ala243Val	246	0	0		3	70	7	15330670	267	44.26	212	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	HMMPfam_UPF0560	p.A243V	ENST00000378116.4	37	c.728	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490241	0.64074	.	.	ENSG00000148468	ENST00000378116;ENST00000378114;ENST00000396781;ENST00000455654	T;T	0.33216	1.42;1.42	5.2	5.2	0.72013	.	0.301948	0.35466	N	0.003184	T	0.25158	0.0611	N	0.22421	0.69	0.24848	N	0.992427	B	0.33940	0.433	B	0.31245	0.126	T	0.27191	-1.0081	10	0.87932	D	0	-9.8625	19.1283	0.93394	0.0:0.0:1.0:0.0	.	243	Q5VUB5	F1711_HUMAN	V	243;190;244;190	ENSP00000367356:A243V;ENSP00000407796:A190V	ENSP00000367354:A190V	A	-	2	0	FAM171A1	15330670	1.000000	0.71417	0.106000	0.21319	0.644000	0.38419	8.264000	0.89866	2.584000	0.87258	0.563000	0.77884	GCG	-	HMMPfam_UPF0560		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15330670	-1	no_errors	NM_001010924.1	genbank	human	validated	54_36p	missense	SNP	0.765	A	A	15290664	G	A	15290664	3	1	180	1	0	0	0	0	1	0	0	0	5490	1087	38	1	1960	1	FAM171A1	10	15290664	Missense_Mutation	SNP	G	TCGA-AB-2996-03A-01D-0739-09		15290664	120244083	11	2015											
ITGA8	8516	genome.wustl.edu	37	10	15658524	15658524	+	Silent	SNP	G	G	A			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr10:15658524G>A	ENST00000378076.3	-	14	1787	c.1434C>T	c.(1432-1434)gtC>gtT	p.V478V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	478					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.V478V(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGTAAACAGCGACTTTTCCTG	0.333																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											124	111	115					10																	15658524		2203	4300	6503	15698530	SO:0001819	synonymous_variant	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"Integrins"	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1434C>T	10.37:g.15658524G>A		270	1.1	3		6	0	0	15698530	258	45.82	219	B0YJ31|Q5VX94	Silent	SNP	HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF69179,superfamily_SSF69318	p.V478	ENST00000378076.3	37	c.1434	CCDS31155.1	10																																																																																			-	HMMSmart_Int_alpha,superfamily_SSF69318		0.333	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	protein_coding	OTTHUMT00000046987.1	G	NM_003638		15698530	-1	no_errors	NM_003638.1	genbank	human	provisional	54_36p	silent	SNP	0.954	A	A	15658524	G	A	15658524	2	1	180	1	0	0	0	0	0	0	0	1	7882	1045	37	1		1	ITGA8	10	15658524	Silent	SNP	G	TCGA-AB-2996-03A-01D-0739-09	367860	15658524	119876223	12	2016											
MKX	283078	genome.wustl.edu	37	10	28023575	28023575	+	Silent	SNP	G	G	C			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr10:28023575G>C	ENST00000375790.5	-	5	1080	c.648C>G	c.(646-648)ccC>ccG	p.P216P	MKX_ENST00000419761.1_Silent_p.P216P			Q8IYA7	MKX_HUMAN	mohawk homeobox	216					collagen fibril organization (GO:0030199)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|positive regulation of collagen biosynthetic process (GO:0032967)|tendon cell differentiation (GO:0035990)|tendon sheath development (GO:0002932)	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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.P216P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						TCTTGTATTTGGGGGGTGCCA	0.488																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											160	154	156					10																	28023575		2203	4300	6503	28063581	SO:0001819	synonymous_variant	0			BC036207	CCDS7156.1	10p12.1	2011-06-20	2006-03-31	2006-03-31	ENSG00000150051	ENSG00000150051		"Homeoboxes / TALE class"	23729	protein-coding gene	gene with protein product		601332	"chromosome 10 open reading frame 48", "iroquois homeobox protein-like 1"	C10orf48, IRXL1		16408284	Standard	NM_173576		Approved	MGC39616	uc001itx.4	Q8IYA7	OTTHUMG00000017862	ENST00000375790.5:c.648C>G	10.37:g.28023575G>C		257	1.91	5					28063581	131	50.93	137	B3KWM5	Silent	SNP	HMMPfam_Homeobox,HMMSmart_HOX,superfamily_Homeodomain_like,PatternScan_HOMEOBOX_1	p.P216	ENST00000375790.5	37	c.648	CCDS7156.1	10																																																																																			-	NULL		0.488	MKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKX	protein_coding	OTTHUMT00000047332.3	G	NM_173576		28063581	-1	no_errors	NM_173576.2	genbank	human	validated	54_36p	silent	SNP	0.635	C	C	28023575	G	C	28023575	2	2	180	1	0	0	0	0	0	0	0	1	9610	1335	47	4		4	MKX	10	28023575	Silent	SNP	G	TCGA-AB-2996-03A-01D-0739-09	12365051	28023575	107511172	13	2017											
GDPD5	81544	genome.wustl.edu	37	11	75146565	75146565	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr11:75146565C>T	ENST00000336898.3	-	17	2642	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000526177.1_Missense_Mutation_p.R464Q|GDPD5_ENST00000533805.1_Missense_Mutation_p.R357Q|GDPD5_ENST00000529721.1_Missense_Mutation_p.R602Q|GDPD5_ENST00000533784.1_Missense_Mutation_p.R483Q|GDPD5_ENST00000376282.3_Missense_Mutation_p.R483Q	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	602					cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.R602Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						ACGCCCACTCCGCTCTATGAG	0.582																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											67	61	63					11																	75146565		2200	4293	6493	74824213	SO:0001583	missense	0			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1805G>A	11.37:g.75146565C>T	ENSP00000337972:p.Arg602Gln	474	2.67	13		14	36.36	8	74824213	90	45.12	74	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	HMMPfam_GDPD,superfamily_PLC-like phosphodiesterases	p.R602Q	ENST00000336898.3	37	c.1805	CCDS8238.1	11	.	.	.	.	.	.	.	.	.	.	C	14.44	2.535817	0.45176	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282	T;T;T;T;T;T	0.15017	2.46;2.46;2.47;2.47;2.47;2.46	4.84	-3.28	0.05033	.	1.125900	0.06844	N	0.796183	T	0.08714	0.0216	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38693	-0.9649	10	0.30854	T	0.27	-11.7614	6.5086	0.22208	0.0:0.2392:0.1487:0.6121	.	483;602	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	Q	464;483;602;602;357;483	ENSP00000434050:R464Q;ENSP00000437049:R483Q;ENSP00000433214:R602Q;ENSP00000337972:R602Q;ENSP00000435196:R357Q;ENSP00000365459:R483Q	ENSP00000337972:R602Q	R	-	2	0	GDPD5	74824213	0.000000	0.05858	0.101000	0.21167	0.988000	0.76386	-0.759000	0.04761	-0.466000	0.06943	0.655000	0.94253	CGG	-	NULL		0.582	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	protein_coding	OTTHUMT00000384409.1	C	NM_030792		74824213	-1	no_errors	NM_030792.6	genbank	human	validated	54_36p	missense	SNP	0.235	T	T	75146565	C	T	75146565	3	4	180	1	0	0	0	0	1	0	0	0	6327	652	23	1	16	1	GDPD5	11	75146565	Missense_Mutation	SNP	C	TCGA-AB-2996-03A-01D-0739-09		75146565	59859951	14	2018											
NALCN	259232	genome.wustl.edu	37	13	102047642	102047642	+	Silent	SNP	G	G	A			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr13:102047642G>A	ENST00000251127.6	-	3	264	c.183C>T	c.(181-183)ttC>ttT	p.F61F	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Silent_p.F61F|NALCN_ENST00000376200.5_Silent_p.F61F	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	61					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.F61F(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GATAGTGCTCGAAGGTCATTG	0.453																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	13											157	118	131					13																	102047642		2203	4300	6503	100845643	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"Ion channels / Sodium leak channels, non-selective"	19082	protein-coding gene	gene with protein product		611549	"voltage gated channel like 1"	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.183C>T	13.37:g.102047642G>A		131	2.96	4					100845643	228	44.93	186	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels	p.F61	ENST00000251127.6	37	c.183	CCDS9498.1	13																																																																																			-	superfamily_Voltage-gated potassium channels		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	protein_coding	OTTHUMT00000045663.2	G	NM_052867		100845643	-1	no_errors	NM_052867.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	102047642	G	A	102047642	2	1	180	1	0	0	0	0	0	0	0	1	10148	1049	37	1		1	NALCN	13	102047642	Silent	SNP	G	TCGA-AB-2996-03A-01D-0739-09		102047642	13122236	15	2019											
ZNF213	7760	genome.wustl.edu	37	16	3188459	3188459	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr16:3188459G>A	ENST00000396878.3	+	3	915	c.440G>A	c.(439-441)cGg>cAg	p.R147Q	ZNF213_ENST00000574902.1_Missense_Mutation_p.R147Q|ZNF213_ENST00000576416.1_Missense_Mutation_p.R147Q|ZNF213_ENST00000416391.2_Missense_Mutation_p.G14R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	147					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)	p.R147Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GCTGCAGGCCGGGGATCCCAG	0.672																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	16											33	41	38					16																	3188459		2197	4299	6496	3128460	SO:0001583	missense	0			AF017433	CCDS10495.1	16p13.3	2014-05-13	2007-02-20	2007-02-20	ENSG00000085644	ENSG00000085644		"Zinc fingers, C2H2-type", "-", "-", "-"	13005	protein-coding gene	gene with protein product		608387				9653642, 10023065	Standard	NM_004220		Approved	CR53, ZKSCAN21, ZSCAN53	uc010uws.2	O14771	OTTHUMG00000177519	ENST00000396878.3:c.440G>A	16.37:g.3188459G>A	ENSP00000380087:p.Arg147Gln	217	0	0		4	50	4	3128460	171	47.76	160	A8K1B9|B4DMG6|Q96IS1	Missense_Mutation	SNP	HMMPfam_KRAB,HMMSmart_SM00349,superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_SCAN,HMMSmart_SM00431,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R147Q	ENST00000396878.3	37	c.440	CCDS10495.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.322|9.322	1.058376|1.058376	0.19987|0.19987	.|.	.|.	ENSG00000085644|ENSG00000085644	ENST00000416391|ENST00000396878	T|T	0.05081|0.04809	3.5|3.55	5.43|5.43	1.35|1.35	0.21983|0.21983	.|.	.|0.796770	.|0.10643	.|N	.|0.650809	T|T	0.01592|0.01592	0.0051|0.0051	N|N	0.01874|0.01874	-0.695|-0.695	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.48068|0.48068	-0.9067|-0.9067	7|10	0.20519|0.07482	T|T	0.43|0.82	.|.	4.6751|4.6751	0.12708|0.12708	0.636:0.1666:0.1974:0.0|0.636:0.1666:0.1974:0.0	.|.	.|147	.|O14771	.|ZN213_HUMAN	R|Q	14|147	ENSP00000403892:G14R|ENSP00000380087:R147Q	ENSP00000403892:G14R|ENSP00000380087:R147Q	G|R	+|+	1|2	0|0	ZNF213|ZNF213	3128460|3128460	0.066000|0.066000	0.20996|0.20996	0.046000|0.046000	0.18839|0.18839	0.030000|0.030000	0.12068|0.12068	0.068000|0.068000	0.14531|0.14531	0.312000|0.312000	0.23038|0.23038	-0.294000|-0.294000	0.09567|0.09567	GGG|CGG	-	NULL		0.672	ZNF213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF213	protein_coding	OTTHUMT00000437334.1	G	NM_004220		3128460	1	no_errors	NM_004220.1	genbank	human	validated	54_36p	missense	SNP	0.001	A	A	3188459	G	A	3188459	3	1	180	1	0	0	0	0	1	0	0	0	17766	1116	39	1	446	1	ZNF213	16	3188459	Missense_Mutation	SNP	G	TCGA-AB-2996-03A-01D-0739-09		3188459	87166294	16	2020											
ZNF616	90317	genome.wustl.edu	37	19	52618223	52618223	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr19:52618223G>T	ENST00000600228.1	-	4	2455	c.2194C>A	c.(2194-2196)Ctc>Atc	p.L732I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	732					regulation of transcription, DNA-templated (GO:0006355)|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)	p.L732I(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TGTTTGCTGAGGGAAAACAAC	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											131	133	132					19																	52618223		2203	4300	6503	57310035	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"Zinc fingers, C2H2-type", "-"	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2194C>A	19.37:g.52618223G>T	ENSP00000471000:p.Leu732Ile	234	1.27	3		4	33.33	2	57310035	116	48.44	109	B3KRV1|Q0P658|Q658V7	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.L732I	ENST00000600228.1	37	c.2194	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872736	0.33069	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.8	-1.12	0.09808	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.67988	0.2952	M	0.92738	3.34	0.09310	N	1	D	0.60575	0.988	D	0.74674	0.984	T	0.56517	-0.7966	8	0.87932	D	0	.	3.2047	0.06661	0.1841:0.0:0.5681:0.2478	.	732	Q08AN1	ZN616_HUMAN	I	732	.	ENSP00000328722:L732I	L	-	1	0	ZNF616	57310035	0.069000	0.21087	0.000000	0.03702	0.001000	0.01503	0.406000	0.21032	-0.420000	0.07427	-0.516000	0.04426	CTC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.398	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	protein_coding	OTTHUMT00000462451.1	G	XM_030892		57310035	-1	no_errors	NM_178523.3	genbank	human	validated	54_36p	missense	SNP	0.066	T	T	52618223	G	T	52618223	3	4	180	1	0	0	0	0	1	0	0	0	18038	1000	35	4	155	4	ZNF616	19	52618223	Missense_Mutation	SNP	G	TCGA-AB-2996-03A-01D-0739-09		52618223	6510760	17	2021											
U2AF1	7307	genome.wustl.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A	rs371769427		TCGA-AB-2996-03A-01D-0739-09	TCGA-AB-2996-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	625950a0-f786-4158-90b7-89cb96e4a23b	2b2ba0f5-7ab3-4ae0-9828-097cc0e89a15	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358			Mis		"CLL, MDS"																																	dbGAP		Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)	21						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	43397525	SO:0001583	missense	0			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201		"RNA binding motif (RRM) containing"	12453	protein-coding gene	gene with protein product		191317	"U2(RNU2) small nuclear RNA auxiliary factor binding protein", "U2(RNU2) small nuclear RNA auxiliary factor 1"	U2AFBP		8660980, 7956352	Standard	NM_006758		Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	220	3.08	7		71	51.68	77	43397525	83	42.36	61	Q701P4|Q71RF1	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_RRM,HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1,superfamily_SSF54928	p.S34F	ENST00000291552.4	37	c.101	CCDS13694.1	21	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	-	HMMPfam_zf-CCCH,HMMSmart_ZnF_C3H1		0.358	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF1	protein_coding	OTTHUMT00000195541.1	G	NM_006758		43397525	-1	no_errors	NM_001025203.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	44524456	G	A	44524456	3	1	180	1	0	0	0	0	1	0	0	0	16818	942	33	2	720	2	U2AF1	21	44524456	Missense_Mutation	SNP	G	TCGA-AB-2996-03A-01D-0739-09		44524456	3605439	18	2022											
SLC30A6	55676	genome.wustl.edu	37	2	32445463	32445463	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr2:32445463A>G	ENST00000282587.5	+	14	1104	c.1067A>G	c.(1066-1068)cAt>cGt	p.H356R	SLC30A6_ENST00000379343.2_Missense_Mutation_p.H396R|SLC30A6_ENST00000538303.1_Missense_Mutation_p.H327R|SLC30A6_ENST00000357055.3_Missense_Mutation_p.H159R|SLC30A6_ENST00000406369.1_Missense_Mutation_p.H282R|SLC30A6_ENST00000435660.1_Missense_Mutation_p.H333R	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	356					cellular protein metabolic process (GO:0044267)|Golgi to endosome transport (GO:0006895)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	zinc ion transmembrane transporter activity (GO:0005385)	p.H356R(3)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTTTCAGATCATCACGTAATC	0.413																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	2											151	135	140					2																	32445463		2203	4300	6503	32298967	SO:0001583	missense	0			AK055663	CCDS1780.1, CCDS54341.1, CCDS54342.1, CCDS54343.1	2p22.3	2013-05-22			ENSG00000152683	ENSG00000152683		"Solute carriers"	19305	protein-coding gene	gene with protein product		611148					Standard	NM_017964		Approved	FLJ31101, ZNT6	uc002rof.2	Q6NXT4	OTTHUMG00000128456	ENST00000282587.5:c.1067A>G	2.37:g.32445463A>G	ENSP00000282587:p.His356Arg	926	6.37	63					32298967	569	42.31	418	A5YM45|B7Z901|Q8N5C9|Q96NC3	Missense_Mutation	SNP	HMMPfam_Cation_efflux	p.H356R	ENST00000282587.5	37	c.1067	CCDS1780.1	2	.	.	.	.	.	.	.	.	.	.	A	15.81	2.943978	0.53079	.	.	ENSG00000152683	ENST00000379343;ENST00000282587;ENST00000435660;ENST00000538303;ENST00000357055;ENST00000406369	T;T	0.76968	-1.06;-1.06	5.74	5.74	0.90152	.	0.202582	0.53938	D	0.000054	T	0.78572	0.4304	L	0.27053	0.805	0.43430	D	0.995591	D;P;D;P	0.59357	0.966;0.589;0.985;0.93	P;B;P;B	0.56916	0.543;0.288;0.809;0.289	T	0.80779	-0.1230	10	0.56958	D	0.05	-11.387	15.6945	0.77484	1.0:0.0:0.0:0.0	.	327;333;396;356	B7Z901;Q6NXT4-3;Q6NXT4-2;Q6NXT4	.;.;.;ZNT6_HUMAN	R	396;356;333;327;159;282	ENSP00000282587:H356R;ENSP00000440678:H327R	ENSP00000282587:H356R	H	+	2	0	SLC30A6	32298967	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.344000	0.72991	2.182000	0.69389	0.482000	0.46254	CAT	-	NULL		0.413	SLC30A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A6	protein_coding	OTTHUMT00000250254.2	A			32298967	1	no_errors	NM_017964.2	genbank	human	provisional	54_36p	missense	SNP	1.000	G	G	32445463	A	G	32445463	3	3	181	1	0	0	0	0	1	0	0	0	14559	217	8	3	1121	3	SLC30A6	2	32445463	Missense_Mutation	SNP	A	TCGA-AB-2997-03A-01D-0739-09		32445463	210753910	1	2023											
CUL3	8452	genome.wustl.edu	37	2	225449691	225449691	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr2:225449691C>A	ENST00000264414.4	-	1	374	c.36G>T	c.(34-36)aaG>aaT	p.K12N	CUL3_ENST00000344951.4_Missense_Mutation_p.K12N	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	12					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.K12N(3)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCTTGGTGTCCTTCCGGCTGC	0.716																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	2											38	35	36					2																	225449691		2200	4300	6500	225157935	SO:0001583	missense	0			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.36G>T	2.37:g.225449691C>A	ENSP00000264414:p.Lys12Asn	199	7.44186046511628	16					225157935	102	47.4226804123711	92	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Missense_Mutation	SNP	HMMPfam_Cullin,PatternScan_CULLIN_1,HMMSmart_SM00182,superfamily_Cullin homology domain,superfamily_Cullin repeat,HMMPfam_Cullin_Nedd8,superfamily_"Winged helix" DNA-binding domain	p.K12N	ENST00000264414.4	37	c.36	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308017	0.60305	.	.	ENSG00000036257	ENST00000264414;ENST00000344951	T;T	0.70282	-0.47;-0.38	2.95	2.95	0.34219	.	0.000000	0.64402	U	0.000001	T	0.62624	0.2443	N	0.14661	0.345	0.25099	N	0.990794	P;P	0.42039	0.769;0.651	P;B	0.49332	0.607;0.163	T	0.60136	-0.7322	10	0.72032	D	0.01	.	12.5629	0.56293	0.0:1.0:0.0:0.0	.	12;12	Q13618-3;Q13618	.;CUL3_HUMAN	N	12	ENSP00000264414:K12N;ENSP00000343601:K12N	ENSP00000264414:K12N	K	-	3	2	CUL3	225157935	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.691000	0.54720	1.170000	0.42753	0.313000	0.20887	AAG	-	NULL		0.716	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	protein_coding	OTTHUMT00000256871.2	C			225157935	-1	no_errors	NM_003590.3	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	225449691	C	A	225449691	3	1	181	1	0	0	0	0	1	0	0	0	4056	680	24	4	2334	4	CUL3	2	225449691	Missense_Mutation	SNP	C	TCGA-AB-2997-03A-01D-0739-09	193004228	225449691	17749682	2	2024											
DOK2	9046	genome.wustl.edu	37	8	21770015	21770015	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr8:21770015G>A	ENST00000276420.4	-	2	328	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	24	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)	p.R24C(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CCGAAGCGGCGCCATTTCTGT	0.706																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											5	6	5					8																	21770015		2083	4062	6145	21825961	SO:0001583	missense	0			AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"docking protein 2, 56kD"			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.70C>T	8.37:g.21770015G>A	ENSP00000276420:p.Arg24Cys	218	7.23404255319149	17					21825961	165	45	135	Q8N5A4	Missense_Mutation	SNP	HMMPfam_PH,HMMSmart_PH,HMMPfam_IRS,HMMSmart_PTBI,superfamily_SSF50729	p.R24C	ENST00000276420.4	37	c.70	CCDS6016.1	8	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617929	0.66787	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.54675	1.52;0.56	5.17	4.23	0.50019	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.084070	0.46442	D	0.000298	T	0.65903	0.2736	M	0.69358	2.11	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61722	0.893;0.816	T	0.69914	-0.5016	10	0.87932	D	0	.	12.5279	0.56098	0.0:0.0:0.6967:0.3033	.	24;24	O60496;A8K7W1	DOK2_HUMAN;.	C	24	ENSP00000276420:R24C;ENSP00000429224:R24C	ENSP00000276420:R24C	R	-	1	0	DOK2	21825961	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	1.398000	0.34554	2.414000	0.81942	0.561000	0.74099	CGC	-	HMMPfam_PH,HMMSmart_PH,superfamily_SSF50729		0.706	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK2	protein_coding	OTTHUMT00000253735.3	G	NM_003974		21825961	-1	no_errors	NM_003974.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	A	A	21770015	G	A	21770015	3	1	181	1	0	0	0	0	1	0	0	0	4697	1087	38	1	1184	1	DOK2	8	21770015	Missense_Mutation	SNP	G	TCGA-AB-2997-03A-01D-0739-09		21770015	124594007	3	2025											
MUC5B	727897	genome.wustl.edu	37	11	1272708	1272708	+	Silent	SNP	C	C	T	rs200111607	byFrequency	TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr11:1272708C>T	ENST00000529681.1	+	31	14656	c.14598C>T	c.(14596-14598)acC>acT	p.T4866T	MUC5B_ENST00000447027.1_Silent_p.T4869T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4866	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.T4821T(3)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACGGCCACCGCCTCCTCCA	0.652																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	11						C		7,4273		0,7,2133	69	89	82		14598	-0.6	0	11		82	68,8408		0,68,4170	no	coding-synonymous	MUC5B	NM_002458.2		0,75,6303	TT,TC,CC		0.8023,0.1636,0.588		4866/5763	1272708	75,12681	2140	4238	6378	1229284	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"Mucins"	7516	protein-coding gene	gene with protein product		600770	"mucin 5, subtype B, tracheobronchial"	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.14598C>T	11.37:g.1272708C>T		210	13.5802469135802	33					1229284	21	92.6056338028169	263	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,HMMPfam_VWD,HMMSmart_SM00216,superfamily_Serine proterase inhibitors,HMMSmart_SM00041,PatternScan_CTCK_1,HMMPfam_Cys_knot,HMMSmart_SM00215,superfamily_PMP inhibitors,HMMPfam_C8,HMMPfam_TIL	p.T4869	ENST00000529681.1	37	c.14607	CCDS44515.2	11																																																																																			-	NULL		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1229284	1	no_errors	NM_002458.1	genbank	human	validated	54_36p	silent	SNP	0.000	T	T	1272708	C	T	1272708	2	4	181	1	0	0	0	0	0	0	0	1	9979	639	23	1		1	MUC5B	11	1272708	Silent	SNP	C	TCGA-AB-2997-03A-01D-0739-09		1272708	133733808	4	2026											
CNTN5	53942	genome.wustl.edu	37	11	99944987	99944987	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr11:99944987C>T	ENST00000524871.1	+	13	1831	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	CNTN5_ENST00000528682.1_Missense_Mutation_p.S514F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S514F|CNTN5_ENST00000279463.3_Missense_Mutation_p.S514F|CNTN5_ENST00000418526.2_Missense_Mutation_p.S440F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	514	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S514F(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCAACCATCTCTTGGAAGAAA	0.363																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											63	62	62					11																	99944987		1832	4081	5913	99450197	SO:0001583	missense	0			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1541C>T	11.37:g.99944987C>T	ENSP00000435637:p.Ser514Phe	566	7.51633986928105	46					99450197	352	45.1713395638629	290	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,HMMPfam_I-set,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin	p.S514F	ENST00000524871.1	37	c.1541	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495067	0.64186	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.303968	0.36854	N	0.002377	T	0.80701	0.4673	M	0.78049	2.395	0.43574	D	0.995901	P;P;P	0.41232	0.743;0.565;0.743	P;B;P	0.50136	0.632;0.377;0.632	T	0.81090	-0.1090	10	0.49607	T	0.09	.	18.4704	0.90773	0.0:1.0:0.0:0.0	.	514;440;514	E9PKE8;O94779-2;O94779	.;.;CNTN5_HUMAN	F	514;514;514;440;514	ENSP00000433575:S514F;ENSP00000436185:S514F;ENSP00000435637:S514F;ENSP00000393229:S440F;ENSP00000279463:S514F	ENSP00000279463:S514F	S	+	2	0	CNTN5	99450197	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	2.544000	0.45761	2.592000	0.87571	0.558000	0.71614	TCT	-	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.363	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	protein_coding	OTTHUMT00000395148.2	C	NM_014361		99450197	1	no_errors	NM_014361.2	genbank	human	reviewed	54_36p	missense	SNP	0.995	T	T	99944987	C	T	99944987	3	4	181	1	0	0	0	0	1	0	0	0	3644	913	32	2	1583	2	CNTN5	11	99944987	Missense_Mutation	SNP	C	TCGA-AB-2997-03A-01D-0739-09	98672279	99944987	35061529	5	2027											
TPTE2	93492	genome.wustl.edu	37	13	20012252	20012252	+	Missense_Mutation	SNP	C	C	T	rs140738972		TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr13:20012252C>T	ENST00000400230.2	-	14	1059	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	TPTE2_ENST00000457266.2_Missense_Mutation_p.E228K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E262K|TPTE2_ENST00000382978.1_Missense_Mutation_p.E299K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E299K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E262K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E228K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E339K			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	339	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E262K(5)|p.E339K(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAATATTTCGGAGGCAATA	0.368																																						dbGAP											6	Substitution - Missense(6)	haematopoietic_and_lymphoid_tissue(3)|lung(2)|skin(1)	13						C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405		0,1,2202	59	59	59		682,784,1015	1.5	0	13	dbSNP_134	59	0,8600		0,0,4300	no	missense,missense,missense	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	56,56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	228/412,262/446,339/523	20012252	1,13005	2203	4300	6503	18910252	SO:0001583	missense	0			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1015G>A	13.37:g.20012252C>T	ENSP00000383089:p.Glu339Lys	381	7.74818401937046	32					18910252	213	43.6507936507937	165	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_PTEN_C2,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II,superfamily_Voltage-gated potassium channels	p.E339K	ENST00000400230.2	37	c.1015	CCDS45014.1	13	.	.	.	.	.	.	.	.	.	.	c	7.277	0.608263	0.14002	2.27E-4	0.0	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000255310;ENST00000390680;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548;ENST00000419256	D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	2.41	1.52	0.23074	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.227351	0.42964	D	0.000636	T	0.80449	0.4625	L	0.37561	1.115	0.09310	N	1	P;P;D	0.53151	0.925;0.589;0.958	P;B;P	0.51055	0.455;0.068;0.657	T	0.70117	-0.4960	9	.	.	.	-7.5063	6.872	0.24125	0.0:0.6556:0.3444:0.0	.	228;262;339	A8MX64;Q6XPS3-3;Q6XPS3	.;.;TPTE2_HUMAN	K	299;228;339;262;262;339;299;228;339;208	ENSP00000372438:E299K;ENSP00000382974:E228K;ENSP00000383089:E339K;ENSP00000255310:E262K;ENSP00000375098:E262K;ENSP00000372437:E339K;ENSP00000372435:E299K;ENSP00000442218:E228K	.	E	-	1	0	TPTE2	18910252	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.023000	0.13533	0.540000	0.28808	0.461000	0.40582	GAA	-	superfamily_(Phosphotyrosine protein) phosphatases II		0.368	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	protein_coding		C	NM_199254		18910252	-1	no_errors	NM_199254.1	genbank	human	validated	54_36p	missense	SNP	0.271	T	T	20012252	C	T	20012252	3	4	181	1	0	0	0	0	1	0	0	0	16428	893	31	1	581	1	TPTE2	13	20012252	Missense_Mutation	SNP	C	TCGA-AB-2997-03A-01D-0739-09		20012252	95157626	6	2028											
DIS3	22894	genome.wustl.edu	37	13	73346338	73346338	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr13:73346338C>T	ENST00000377767.4	-	10	1562	c.1462G>A	c.(1462-1464)Gat>Aat	p.D488N	DIS3_ENST00000545453.1_Missense_Mutation_p.D326N|DIS3_ENST00000377780.4_Missense_Mutation_p.D458N	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	488					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)	p.D488N(4)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TGTAGAGCATCGTCTATATCA	0.363										Multiple Myeloma(4;0.011)																												dbGAP											4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(3)|lung(1)	13											114	113	113					13																	73346338		2203	4300	6503	72244339	SO:0001583	missense	0			AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"exosome component 11"	607533	"KIAA1008", "DIS3 mitotic control homolog (S. cerevisiae)"	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1462G>A	13.37:g.73346338C>T	ENSP00000366997:p.Asp488Asn	714	4.55	34					72244339	519	44.37	414	A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	HMMPfam_RNB,PatternScan_RIBONUCLEASE_II,HMMSmart_SM00670,superfamily_PIN domain-like	p.D488N	ENST00000377767.4	37	c.1462	CCDS9447.1	13	.	.	.	.	.	.	.	.	.	.	C	34	5.396850	0.96009	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.65549	-0.16;-0.16;-0.16	5.48	5.48	0.80851	Ribonuclease II/R (2);	0.000000	0.85682	D	0.000000	D	0.89511	0.6736	H	0.99740	4.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93998	0.7273	10	0.87932	D	0	.	19.3194	0.94231	0.0:1.0:0.0:0.0	.	458;488	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	N	488;458;326	ENSP00000366997:D488N;ENSP00000367011:D458N;ENSP00000440058:D326N	ENSP00000366997:D488N	D	-	1	0	DIS3	72244339	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	6.008000	0.70739	2.722000	0.93159	0.563000	0.77884	GAT	-	HMMPfam_RNB		0.363	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3	protein_coding	OTTHUMT00000045250.2	C	NM_014953		72244339	-1	no_errors	NM_014953.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	73346338	C	T	73346338	3	4	181	1	0	0	0	0	1	0	0	0	4535	884	31	1	1462	1	DIS3	13	73346338	Missense_Mutation	SNP	C	TCGA-AB-2997-03A-01D-0739-09	53334086	73346338	41823540	7	2029											
AKAP13	11214	genome.wustl.edu	37	15	86262345	86262351	+	Frame_Shift_Del	DEL	AAGATCA	AAGATCA	-			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	AAGATCA	AAGATCA	AAGATCA	-	AAGATCA	AAGATCA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr15:86262345_86262351delAAGATCA	ENST00000394518.2	+	23	6135_6141	c.6040_6046delAAGATCA	c.(6040-6048)aagatcatgfs	p.KIM2014fs	AKAP13_ENST00000394510.2_Frame_Shift_Del_p.KIM259fs|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Frame_Shift_Del_p.KIM2018fs	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2014	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Interaction with ESR1.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.K2018fs*1(3)|p.K94fs*1(3)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CCGCACTCTCAAGATCATGAGTGGTGT	0.454																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											6	Deletion - Frameshift(6)	haematopoietic_and_lymphoid_tissue(6)	15																																								84063355	SO:0001589	frameshift_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"A-kinase anchor proteins", "Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	371	protein-coding gene	gene with protein product		604686	"lymphoid blast crisis oncogene"	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6040_6046delAAGATCA	15.37:g.86262345_86262351delAAGATCA	ENSP00000378026:p.Lys2014fs	735	7.66331658291457	61					84063349	411	44.9799196787149	336	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Del	DEL	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain,HMMPfam_PH,HMMSmart_PH,superfamily_ANK,HMMPfam_C1_1,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,PatternScan_EF_HAND_1,HMMPfam_RII_binding_1,superfamily_SSF50729,superfamily_SSF57889	p.K2018fs	ENST00000394518.2	37	c.6052_6058	CCDS32319.1	15																																																																																			-	HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_DH-domain		0.454	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	protein_coding	OTTHUMT00000417318.1	AAGATCA	NM_007200		84063355	1	no_errors	NM_006738.4	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000	-	-	86262351	AAGATCA	-	86262345	7	5	181	1	0	1	0	1	0	0	0	0	449	131	5	0	6196	0	AKAP13	15	86262345	Frame_Shift_Del	DEL	AAGATCA	TCGA-AB-2997-03A-01D-0739-09		86262345	16269047	8	2030											
DNAH9	1770	genome.wustl.edu	37	17	11572805	11572805	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr17:11572805T>G	ENST00000262442.4	+	17	3115	c.3047T>G	c.(3046-3048)cTc>cGc	p.L1016R	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1016R	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1016	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.L1016R(3)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATTCGTACCTCTATGTGGAG	0.532																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	17											106	100	102					17																	11572805		2203	4300	6503	11513530	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"Axonemal dyneins"	2953	protein-coding gene	gene with protein product		603330	"dynein, axonemal, heavy polypeptide 17-like", "dynein, axonemal, heavy polypeptide 9"	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3047T>G	17.37:g.11572805T>G	ENSP00000262442:p.Leu1016Arg	1085	6.06	70					11513530	765	46.81	675	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	HMMSmart_SM00382,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2,HMMPfam_AAA_5,HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_Spectrin repeat,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L1016R	ENST00000262442.4	37	c.3047	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	14.82	2.650728	0.47362	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.33865	1.43;1.39	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000003	T	0.66307	0.2776	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75001	-0.3471	10	0.87932	D	0	.	14.5132	0.67802	0.0:0.0:0.0:1.0	.	1016	Q9NYC9	DYH9_HUMAN	R	1016	ENSP00000262442:L1016R;ENSP00000414874:L1016R	ENSP00000262442:L1016R	L	+	2	0	DNAH9	11513530	1.000000	0.71417	0.587000	0.28692	0.008000	0.06430	7.470000	0.80973	2.009000	0.58944	0.533000	0.62120	CTC	-	NULL		0.532	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	T	NM_001372		11513530	1	no_errors	NM_001372.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	11572805	T	G	11572805	3	3	181	1	0	0	0	0	1	0	0	0	4608	1551	54	5	3113	5	DNAH9	17	11572805	Missense_Mutation	SNP	T	TCGA-AB-2997-03A-01D-0739-09		11572805	69622405	9	2031											
PSG7	5676	genome.wustl.edu	37	19	43439829	43439829	+	RNA	SNP	G	G	T			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr19:43439829G>T	ENST00000406070.2	-	0	253				PSG7_ENST00000446844.3_RNA|PSG7_ENST00000471557.1_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TGGACAAGTAGAAGAACATCC	0.473																																						dbGAP											0			19											146	153	151					19																	43439829		2201	4296	6497	48131669			0					19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	9524	protein-coding gene	gene with protein product		176396	"pregnancy specific beta-1-glycoprotein 7"				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43439829G>T		142	5.33333333333333	8					48131669	95	52.020202020202	103	Q15232	Missense_Mutation	SNP	HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_V-set,HMMPfam_ig,superfamily_Immunoglobulin	p.L53I	ENST00000406070.2	37	c.157		19																																																																																			-	HMMSmart_SM00409,HMMPfam_V-set,superfamily_Immunoglobulin		0.473	PSG7-001	KNOWN	basic	polymorphic_pseudogene	PSG7	polymorphic_pseudogene	OTTHUMT00000321431.2	G	NM_001206650		48131669	-1	pseudogene	NM_002783.2	genbank	human	reviewed	54_36p	missense	SNP	0.003	T	T	43439829	G	T	43439829	1	4	181	0	1	0	0	0	0	0	0	0	12660	933	33	4		4	PSG7	19	43439829	RNA	SNP	G	TCGA-AB-2997-03A-01D-0739-09		43439829	15689154	10	2032											
MYBL2	4605	genome.wustl.edu	37	20	42343911	42343911	+	Silent	SNP	G	G	A			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr20:42343911G>A	ENST00000217026.4	+	13	2089	c.1962G>A	c.(1960-1962)acG>acA	p.T654T	MYBL2_ENST00000396863.4_Silent_p.T630T	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	654					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|spindle assembly involved in mitosis (GO:0090307)	Myb complex (GO:0031523)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T654T(3)		endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCCACTTCACGACACCTGCCC	0.617																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	20											94	104	100					20																	42343911		2203	4300	6503	41777325	SO:0001819	synonymous_variant	0				CCDS13322.1, CCDS63276.1	20q13.1	2013-07-09	2013-07-09		ENSG00000101057	ENSG00000101057			7548	protein-coding gene	gene with protein product		601415				8812502	Standard	NM_002466		Approved	BMYB, B-MYB	uc002xlb.1	P10244	OTTHUMG00000033062	ENST00000217026.4:c.1962G>A	20.37:g.42343911G>A		362	9.95024875621891	40					41777325	232	44.6300715990453	187	B2RBS5|B7Z8D9|F8W6N6|Q53F07	Silent	SNP	HMMSmart_SM00717,superfamily_Homeodomain-like,HMMPfam_Myb_DNA-binding,HMMPfam_Cmyb_C	p.T654	ENST00000217026.4	37	c.1962	CCDS13322.1	20																																																																																			-	NULL		0.617	MYBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBL2	protein_coding	OTTHUMT00000080408.1	G	NM_002466		41777325	1	no_errors	NM_002466.2	genbank	human	reviewed	54_36p	silent	SNP	0.000	A	A	42343911	G	A	42343911	2	1	181	1	0	0	0	0	0	0	0	1	10010	1045	37	1		1	MYBL2	20	42343911	Silent	SNP	G	TCGA-AB-2997-03A-01D-0739-09		42343911	20681609	11	2033											
CELSR1	9620	genome.wustl.edu	37	22	46765662	46765662	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-2997-03A-01D-0739-09	TCGA-AB-2997-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	5687e321-0c36-4a38-a4c5-d7a26171ac1c	d2461e36-f349-4f2b-ba07-92b745c07675	g.chr22:46765662G>T	ENST00000262738.3	-	26	7798	c.7799C>A	c.(7798-7800)cCc>cAc	p.P2600H		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2600					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.P2600H(3)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCAGAAGTCGGGGTTCCCGTA	0.647																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	22											57	55	56					22																	46765662		2203	4300	6503	45144326	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	1850	protein-coding gene	gene with protein product	"flamingo homolog 2 (Drosophila)"	604523	"cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.7799C>A	22.37:g.46765662G>T	ENSP00000262738:p.Pro2600His	352	6.38297872340425	24					45144326	234	43.6144578313253	181	O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,superfamily_EGF/Laminin	p.P2600H	ENST00000262738.3	37	c.7799	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516413	0.85495	.	.	ENSG00000075275	ENST00000262738	T	0.43294	0.95	4.3	4.3	0.51218	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000003	T	0.60051	0.2239	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.56547	-0.7961	10	0.21014	T	0.42	.	16.7331	0.85440	0.0:0.0:1.0:0.0	.	2600	Q9NYQ6	CELR1_HUMAN	H	2600	ENSP00000262738:P2600H	ENSP00000262738:P2600H	P	-	2	0	CELSR1	45144326	1.000000	0.71417	0.957000	0.39632	0.872000	0.50106	9.576000	0.98192	2.092000	0.63282	0.585000	0.79938	CCC	-	HMMPfam_7tm_2		0.647	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	protein_coding	OTTHUMT00000318037.1	G	NM_014246		45144326	-1	no_errors	NM_014246.1	genbank	human	reviewed	54_36p	missense	SNP	0.998	T	T	46765662	G	T	46765662	3	4	181	1	0	0	0	0	1	0	0	0	3221	1232	43	4	1285	4	CELSR1	22	46765662	Missense_Mutation	SNP	G	TCGA-AB-2997-03A-01D-0739-09		46765662	4538904	12	2034											
FLG	2312	genome.wustl.edu	37	1	152281734	152281734	+	Silent	SNP	G	G	A	rs138772997	byFrequency	TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr1:152281734G>A	ENST00000368799.1	-	3	5663	c.5628C>T	c.(5626-5628)gaC>gaT	p.D1876D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1876	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.D1876D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.582									Ichthyosis				G|||	21	0.00419329	0.0144	0.0029	5008	,	,		19536	0		0	False		,,,				2504	0					dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1						G		65,4341	61.1+/-98.1	0,65,2138	303	302	303		5628	-1.1	0	1	dbSNP_134	303	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,67,6436	AA,AG,GG		0.0233,1.4753,0.5151		1876/4062	152281734	67,12939	2203	4300	6503	150548358	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"EF-hand domain containing"	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5628C>T	1.37:g.152281734G>A		360	0.28	1					150548358	288	46.58	252	Q01720|Q5T583|Q9UC71	Silent	SNP	PatternScan_S100_CABP,HMMPfam_Filaggrin,HMMPfam_S_100,PatternScan_EF_HAND_1,superfamily_SSF47473	p.D1876	ENST00000368799.1	37	c.5628	CCDS30860.1	1																																																																																			-	HMMPfam_Filaggrin		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	G	NM_002016		150548358	-1	no_errors	NM_002016.1	genbank	human	provisional	54_36p	silent	SNP	0.000	A	A	152281734	G	A	152281734	2	1	182	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152281734	Silent	SNP	G	TCGA-AB-2998-03A-01D-0739-09		152281734	96968887	1	2035											
FAM5C	339479	genome.wustl.edu	37	1	190067294	190067294	+	Missense_Mutation	SNP	G	G	A	rs367715031		TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr1:190067294G>A	ENST00000367462.3	-	8	2386	c.2155C>T	c.(2155-2157)Cgt>Tgt	p.R719C	BRINP3_ENST00000534846.1_Missense_Mutation_p.R617C	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	719					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R719C(1)									TCTAGACGACGCTGACCAGGT	0.488																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1						G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	108	103	104		2155	5.7	1	1		104	0,8600		0,0,4300	no	missense	FAM5C	NM_199051.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	719/767	190067294	1,13005	2203	4300	6503	188333917	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"family with sequence similarity 5, member C"	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.2155C>T	1.37:g.190067294G>A	ENSP00000356432:p.Arg719Cys	1122	0.36	4					188333917	692	47.7	633	B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	HMMPfam_MACPF,HMMSmart_SM00457	p.R719C	ENST00000367462.3	37	c.2155	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.841797	0.71488	2.27E-4	0.0	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.18502	2.48;2.21	5.72	5.72	0.89469	.	0.060620	0.64402	D	0.000002	T	0.16041	0.0386	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.996;0.958	P;B	0.47573	0.55;0.248	T	0.01914	-1.1248	10	0.48119	T	0.1	.	17.3704	0.87376	0.0:0.0:1.0:0.0	.	617;719	B7Z260;Q76B58	.;FAM5C_HUMAN	C	719;617	ENSP00000356432:R719C;ENSP00000438022:R617C	ENSP00000356432:R719C	R	-	1	0	FAM5C	188333917	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.884000	0.87274	2.695000	0.91970	0.650000	0.86243	CGT	-	NULL		0.488	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5C	protein_coding	OTTHUMT00000086278.1	G	NM_199051		188333917	-1	no_errors	NM_199051.1	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	190067294	G	A	190067294	3	1	182	1	0	0	0	0	1	0	0	0	5594	1087	38	1	149	1	FAM5C	1	190067294	Missense_Mutation	SNP	G	TCGA-AB-2998-03A-01D-0739-09	37785560	190067294	59183327	2	2036											
PCDHGA9	56107	genome.wustl.edu	37	5	140782843	140782843	+	Silent	SNP	C	C	T			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr5:140782843C>T	ENST00000573521.1	+	1	324	c.324C>T	c.(322-324)gtC>gtT	p.V108V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	108	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTAAAGTCCTGGTTGAAG	0.517																																						dbGAP											0			5											60	65	64					5																	140782843		1954	4165	6119	140763027	SO:0001819	synonymous_variant	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"Cadherins / Protocadherins : Clustered"	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.324C>T	5.37:g.140782843C>T		236	0.42	1					140763027	214	35.74	119	A2RU65|Q9Y5C9	Silent	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.V108	ENST00000573521.1	37	c.324	CCDS58981.1	5																																																																																			-	HMMSmart_SM00112,HMMPfam_Cadherin_2,superfamily_Cadherin-like		0.517	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	protein_coding	OTTHUMT00000437105.1	C	NM_018921		140763027	1	no_errors	NM_018921.2	genbank	human	reviewed	54_36p	silent	SNP	0.000	T	T	140782843	C	T	140782843	2	4	182	1	0	0	0	0	0	0	0	1	11561	842	30	2		2	PCDHGA9	5	140782843	Silent	SNP	C	TCGA-AB-2998-03A-01D-0739-09		140782843	40132417	3	2037											
SLC37A2	219855	genome.wustl.edu	37	11	124955556	124955556	+	Missense_Mutation	SNP	G	G	A	rs200333736		TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr11:124955556G>A	ENST00000403796.2	+	16	1712	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	SLC37A2_ENST00000298280.5_3'UTR|SLC37A2_ENST00000525837.1_3'UTR|SLC37A2_ENST00000308074.4_Missense_Mutation_p.V471I|SLC37A2_ENST00000407458.1_Missense_Mutation_p.V471I	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	471					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.V471I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		CTCTGCCGACGTCCTAGCCTG	0.582													G|||	1	0.000199681	0	0	5008	,	,		20448	0.001		0	False		,,,				2504	0				Melanoma(11;373 620 21213 26083 47768)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											70	64	66					11																	124955556		2201	4299	6500	124460766	SO:0001583	missense	0			AK074100	CCDS31714.1, CCDS44757.1	11q24.2	2013-07-17	2013-07-17		ENSG00000134955	ENSG00000134955		"Solute carriers"	20644	protein-coding gene	gene with protein product			"solute carrier family 37 (glycerol-3-phosphate transporter), member 2"				Standard	NM_198277		Approved	FLJ00171	uc010sau.2	Q8TED4	OTTHUMG00000165879	ENST00000403796.2:c.1411G>A	11.37:g.124955556G>A	ENSP00000384407:p.Val471Ile	529	0.38	2		2	50	2	124460766	433	48.08	401	A8K2P9|Q6P599|Q7Z7P8|Q8TEM2	Missense_Mutation	SNP	HMMPfam_MFS_1,superfamily_MFS_gen_substrate_transporter	p.V471I	ENST00000403796.2	37	c.1411	CCDS44757.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.920	-0.018375	0.07681	.	.	ENSG00000134955	ENST00000403796;ENST00000407458;ENST00000308074	T;T;T	0.59224	0.28;0.28;0.28	4.86	-9.72	0.00515	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.920680	0.09222	N	0.831770	T	0.35480	0.0933	N	0.16066	0.365	0.29006	N	0.887173	B;B;B	0.12013	0.002;0.005;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.47071	-0.9145	10	0.08381	T	0.77	-15.3846	21.8983	0.99963	0.1933:0.0:0.8067:0.0	.	96;471;471	B7Z480;Q8TED4-2;Q8TED4	.;.;SPX2_HUMAN	I	471	ENSP00000384407:V471I;ENSP00000385126:V471I;ENSP00000311833:V471I	ENSP00000311833:V471I	V	+	1	0	SLC37A2	124460766	0.000000	0.05858	0.001000	0.08648	0.842000	0.47809	-1.934000	0.01552	-2.156000	0.00790	-0.345000	0.07892	GTC	-	superfamily_MFS_gen_substrate_transporter		0.582	SLC37A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC37A2	protein_coding	OTTHUMT00000386837.1	G	XM_166184		124460766	1	no_errors	NM_198277.1	genbank	human	validated	54_36p	missense	SNP	0.020	A	A	124955556	G	A	124955556	3	1	182	1	0	0	0	0	1	0	0	0	14598	1145	40	1	1473	1	SLC37A2	11	124955556	Missense_Mutation	SNP	G	TCGA-AB-2998-03A-01D-0739-09		124955556	10050960	4	2038											
PA2G4	5036	genome.wustl.edu	37	12	56501002	56501002	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr12:56501002G>A	ENST00000303305.6	+	4	774	c.355G>A	c.(355-357)Gct>Act	p.A119T	RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.A100T|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.A119T	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	119					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)	p.A119T(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGCTTCATCGCTAATGTAGC	0.443																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											247	222	231					12																	56501002		2203	4300	6503	54787269	SO:0001583	missense	0			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"proliferation-associated 2G4, 38kD"			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.355G>A	12.37:g.56501002G>A	ENSP00000302886:p.Ala119Thr	577	2.04	12		52	53.98	61	54787269	411	47.44	371	O43846|Q9UM59	Missense_Mutation	SNP	HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core,PatternScan_MAP_2,superfamily_SSF46785	p.A119T	ENST00000303305.6	37	c.355	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	G	17.06	3.291524	0.59976	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.8	4.8	0.61643	Peptidase M24, structural domain (3);	0.160006	0.56097	D	0.000029	T	0.73690	0.3619	L	0.45228	1.405	0.80722	D	1	B;B;B	0.33777	0.015;0.371;0.425	B;B;B	0.40228	0.005;0.137;0.323	T	0.73369	-0.4004	10	0.42905	T	0.14	.	12.4581	0.55716	0.0:0.0:0.8319:0.1681	.	119;119;119	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	T	100;119;119;148;119;119;108	ENSP00000449770:A100T;ENSP00000302886:A119T;ENSP00000448557:A119T;ENSP00000447615:A108T	ENSP00000302886:A119T	A	+	1	0	PA2G4;RP11-603J24.9	54787269	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.841000	0.62824	2.486000	0.83907	0.655000	0.94253	GCT	-	HMMPfam_Peptidase_M24,superfamily_Peptidase_M24_cat_core,PatternScan_MAP_2		0.443	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	protein_coding	OTTHUMT00000407767.1	G	NM_006191		54787269	1	no_errors	NM_006191.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	56501002	G	A	56501002	3	1	182	1	0	0	0	0	1	0	0	0	11361	1087	38	1	369	1	PA2G4	12	56501002	Missense_Mutation	SNP	G	TCGA-AB-2998-03A-01D-0739-09		56501002	77350893	5	2039											
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1800dupTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Asp593_Tyr599dup								27506255				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAA	ATCATATTCATATTCTCTGAA	28608256	-	ATCATATTCATATTCTCTGAA	28608255	7	5	182	1	0	1	1	0	0	0	0	0	5942	942	33	0	1224	0	FLT3	13	28608255	In_Frame_Ins	INS	-	TCGA-AB-2998-03A-01D-0739-09		28608255	86561623	6	2040											
HERC1	8925	genome.wustl.edu	37	15	63966558	63966558	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr15:63966558C>T	ENST00000443617.2	-	38	7916	c.7829G>A	c.(7828-7830)gGg>gAg	p.G2610E	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2610					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G2610E(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AATTTTGCCCCCAAACTGGTC	0.378																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	15											58	55	56					15																	63966558		1843	4094	5937	61753611	SO:0001583	missense	0			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"WD repeat domain containing"	4867	protein-coding gene	gene with protein product		605109	"hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.7829G>A	15.37:g.63966558C>T	ENSP00000390158:p.Gly2610Glu	1160	0.77	9		26	35	14	61753611	661	46.49	576	Q8IW65	Missense_Mutation	SNP	HMMPfam_RCC1,PatternScan_RCC1_2,HMMPfam_HECT,HMMSmart_SM00119,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00320,HMMPfam_SPRY,PatternScan_ARGINASE_2,PatternScan_PHOSPHOPANTETHEINE,superfamily_RCC1/BLIP-II,superfamily_WD40 repeat-like,HMMSmart_SM00449,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.G2610E	ENST00000443617.2	37	c.7829	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846572	0.51164	.	.	ENSG00000103657	ENST00000443617	T	0.25085	1.82	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.21509	0.0518	N	0.14661	0.345	0.80722	D	1	P	0.47106	0.89	B	0.43889	0.435	T	0.01697	-1.1293	10	0.30078	T	0.28	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	2610	Q15751	HERC1_HUMAN	E	2610	ENSP00000390158:G2610E	ENSP00000390158:G2610E	G	-	2	0	HERC1	61753611	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.052000	0.71080	2.775000	0.95449	0.650000	0.86243	GGG	-	NULL		0.378	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	C	NM_003922		61753611	-1	no_errors	NM_003922.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	63966558	C	T	63966558	3	4	182	1	0	0	0	0	1	0	0	0	7057	623	22	2	6920	2	HERC1	15	63966558	Missense_Mutation	SNP	C	TCGA-AB-2998-03A-01D-0739-09		63966558	38564834	7	2041											
PLIN1	5346	genome.wustl.edu	37	15	90209105	90209105	+	Silent	SNP	G	G	T	rs371827110		TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr15:90209105G>T	ENST00000300055.5	-	9	1443	c.1278C>A	c.(1276-1278)gtC>gtA	p.V426V	PLIN1_ENST00000430628.2_Silent_p.V426V	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	426					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)	p.V426V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CCCGGCGCTCGACCTCGGCTG	0.756																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15											4	4	4					15																	90209105		1486	3009	4495	88010109	SO:0001819	synonymous_variant	0			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"Perilipins"	9076	protein-coding gene	gene with protein product		170290	"perilipin"	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.1278C>A	15.37:g.90209105G>T		185	2.12	4					88010109	127	48.37	119	Q8N5Y6	Silent	SNP	HMMPfam_Perilipin	p.V426	ENST00000300055.5	37	c.1278	CCDS10353.1	15																																																																																			-	NULL		0.756	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN	protein_coding	OTTHUMT00000313424.2	G	NM_002666		88010109	-1	no_errors	NM_002666.1	genbank	human	reviewed	54_36p	silent	SNP	0.001	T	T	90209105	G	T	90209105	2	4	182	1	0	0	0	0	0	0	0	1	12089	1045	37	4		4	PLIN1	15	90209105	Silent	SNP	G	TCGA-AB-2998-03A-01D-0739-09	26242547	90209105	12322287	8	2042											
PKD1L2	114780	genome.wustl.edu	37	16	81241125	81241125	+	RNA	SNP	G	G	A	rs367547497		TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chr16:81241125G>A	ENST00000525539.1	-	0	875				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.D292D(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGTGTGGCTGTCTCCTGTAC	0.463																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	16											113	115	114					16																	81241125		1934	4133	6067	79798626			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81241125G>A		679	0.29	2					79798626	425	41.3	299	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Silent	SNP	HMMPfam_Lectin_C,HMMSmart_SM00034,superfamily_C-type lectin-like	p.D292	ENST00000525539.1	37	c.876		16																																																																																			-	NULL		0.463	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	polymorphic_pseudogene	OTTHUMT00000387972.2	G			79798626	-1	no_errors	NM_001076780.1	genbank	human	reviewed	54_36p	silent	SNP	0.997	A	A	81241125	G	A	81241125	1	1	182	0	1	0	0	0	0	0	0	0	11965	1368	48	2		2	PKD1L2	16	81241125	RNA	SNP	G	TCGA-AB-2998-03A-01D-0739-09		81241125	9113628	9	2043											
NYX	60506	genome.wustl.edu	37	X	41334035	41334035	+	Silent	SNP	C	C	T			TCGA-AB-2998-03A-01D-0739-09	TCGA-AB-2998-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	9aae9f69-be50-4c20-b084-a5fdc939a7df	86091afe-5087-48c5-8511-ed4320df0d01	g.chrX:41334035C>T	ENST00000342595.2	+	2	1785	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	NYX_ENST00000378220.1_Silent_p.S443S	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	443					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)		p.S443S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CCTCCCTGTCCGACAGCCTCT	0.701																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											8	9	8					X																	41334035		2136	4159	6295	41218979	SO:0001819	synonymous_variant	0			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1329C>T	X.37:g.41334035C>T		134	1.46	2					41218979	103	47.74	95	D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Silent	SNP	HMMPfam_LRRNT,HMMSmart_LRRNT,HMMSmart_LRRCT,HMMPfam_LRR_1,HMMSmart_LRR_TYP,superfamily_SSF52058	p.S443	ENST00000342595.2	37	c.1329	CCDS14256.1	X																																																																																			-	NULL		0.701	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	protein_coding	OTTHUMT00000056256.1	C	NM_022567		41218979	1	no_errors	NM_022567.2	genbank	human	reviewed	54_36p	silent	SNP	0.000	T	T	41334035	C	T	41334035	2	4	182	1	0	0	0	0	0	0	0	1	10797	639	23	1		1	NYX	23	41334035	Silent	SNP	C	TCGA-AB-2998-03A-01D-0739-09		41334035	113936525	10	2044											
DDR2	4921	genome.wustl.edu	37	1	162731018	162731018	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr1:162731018G>A	ENST00000367922.3	+	10	1311	c.873G>A	c.(871-873)atG>atA	p.M291I	DDR2_ENST00000367921.3_Missense_Mutation_p.M291I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	291					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.M291I(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GCAACAACATGTTTGCTAAAG	0.507																																					NSCLC(161;314 2006 8283 19651 23192)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											159	117	131					1																	162731018		2203	4300	6503	160997642	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.873G>A	1.37:g.162731018G>A	ENSP00000356899:p.Met291Ile	1484	0.07	1					160997642	1076	43.99	845	Q7Z730	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,PatternScan_PROTEIN_KINASE_TYR,superfamily_Gal_bind_like,superfamily_Kinase_like	p.M291I	ENST00000367922.3	37	c.873	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901841	0.92035	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.57273	0.41;0.41	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.51568	0.1682	M	0.76002	2.32	0.36932	D	0.891912	P	0.43542	0.81	B	0.43155	0.41	T	0.60265	-0.7297	9	0.62326	D	0.03	.	18.8112	0.92058	0.0:0.0:1.0:0.0	.	291	Q16832	DDR2_HUMAN	I	291	ENSP00000356899:M291I;ENSP00000356898:M291I	ENSP00000356898:M291I	M	+	3	0	DDR2	160997642	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.041000	0.93788	2.763000	0.94921	0.655000	0.94253	ATG	-	NULL		0.507	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	G	NM_006182		160997642	1	no_errors	NM_001014796.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	162731018	G	A	162731018	3	1	183	1	0	0	0	0	1	0	0	0	4337	1377	48	2	899	2	DDR2	1	162731018	Missense_Mutation	SNP	G	TCGA-AB-2999-03A-01D-0739-09		162731018	86519603	1	2045											
SHQ1	55164	genome.wustl.edu	37	3	72866458	72866458	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr3:72866458G>C	ENST00000325599.8	-	7	944	c.805C>G	c.(805-807)Cgt>Ggt	p.R269G	SHQ1_ENST00000463369.1_Missense_Mutation_p.R241G	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	269					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R269G(1)|p.R269S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CACACTTGACGACAGGCTCTC	0.383																																						dbGAP											2	Substitution - Missense(2)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)	3											151	135	141					3																	72866458		2203	4299	6502	72949148	SO:0001583	missense	0			BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"SHQ1 homolog (S. cerevisiae)"			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.805C>G	3.37:g.72866458G>C	ENSP00000315182:p.Arg269Gly	1359	0	0		14	41.67	10	72949148	892	38.36	555	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	HMMPfam_SHQ1,superfamily_HSP20_chap,HMMPfam_CS	p.R269G	ENST00000325599.8	37	c.805	CCDS33788.1	3	.	.	.	.	.	.	.	.	.	.	G	11.90	1.776710	0.31411	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.32988	1.45;1.43	5.79	0.241	0.15494	SHQ1 protein (1);	0.849897	0.10755	N	0.637868	T	0.27454	0.0674	L	0.38175	1.15	0.09310	N	1	P	0.46064	0.872	P	0.48488	0.579	T	0.20974	-1.0259	10	0.21540	T	0.41	-10.8533	7.4868	0.27439	0.2774:0.0:0.6115:0.1111	.	269	Q6PI26	SHQ1_HUMAN	G	269;241	ENSP00000315182:R269G;ENSP00000417452:R241G	ENSP00000315182:R269G	R	-	1	0	SHQ1	72949148	0.012000	0.17670	0.025000	0.17156	0.868000	0.49771	1.034000	0.30204	0.081000	0.16988	-0.293000	0.09583	CGT	-	HMMPfam_SHQ1		0.383	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHQ1	protein_coding	OTTHUMT00000352310.1	G	NM_018130		72949148	-1	no_errors	NM_018130.2	genbank	human	validated	54_36p	missense	SNP	0.063	C	C	72866458	G	C	72866458	3	2	183	1	0	0	0	0	1	0	0	0	14292	1058	37	4	948	4	SHQ1	3	72866458	Missense_Mutation	SNP	G	TCGA-AB-2999-03A-01D-0739-09		72866458	125155972	2	2046											
COL11A2	1302	genome.wustl.edu	37	6	33151995	33151995	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr6:33151995C>T	ENST00000341947.2	-	8	1273	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	COL11A2_ENST00000357486.1_Missense_Mutation_p.G328D|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G323D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G302D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	349	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G349D(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCCCCATAGCCATAGGTGTA	0.577																																					Melanoma(1;90 116 3946 5341 17093)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											75	74	74					6																	33151995		2203	4300	6503	33259973	SO:0001583	missense	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"Collagens"	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000341947.2:c.1046G>A	6.37:g.33151995C>T	ENSP00000339915:p.Gly349Asp	663	0	0					33259973	195	37.38	117	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00282,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2	p.G349D	ENST00000341947.2	37	c.1046		6	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447263	0.25987	.	.	ENSG00000204248	ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000457788	D;D;D;D;D	0.90197	-2.24;-2.36;-2.38;-2.3;-2.63	3.74	2.84	0.33178	.	1.784490	0.03269	N	0.184458	T	0.82263	0.4999	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.63957	0.92	T	0.78971	-0.1993	10	0.12766	T	0.61	.	9.1737	0.37098	0.0:0.777:0.223:0.0	.	349	P13942	COBA2_HUMAN	D	349;328;323;302;349	ENSP00000339915:G349D;ENSP00000350079:G328D;ENSP00000363846:G323D;ENSP00000363845:G302D;ENSP00000405520:G349D	ENSP00000339915:G349D	G	-	2	0	COL11A2	33259973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.137000	0.31479	1.106000	0.41623	0.549000	0.68633	GGC	-	NULL		0.577	COL11A2-201	KNOWN	basic|appris_candidate_longest	protein_coding	COL11A2	protein_coding		C			33259973	-1	no_errors	NM_080680.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	T	T	33151995	C	T	33151995	3	4	183	1	0	0	0	0	1	0	0	0	3668	739	26	2	4400	2	COL11A2	6	33151995	Missense_Mutation	SNP	C	TCGA-AB-2999-03A-01D-0739-09		33151995	137963072	3	2047											
SEPT14	346288	genome.wustl.edu	37	7	55902220	55902220	+	Silent	SNP	C	C	T			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr7:55902220C>T	ENST00000388975.3	-	6	734	c.618G>A	c.(616-618)acG>acA	p.T206T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	206	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.T206T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATTCTTAAACGTCTGTAAAT	0.348																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	7											106	98	101					7																	55902220		2203	4300	6503	55869714	SO:0001819	synonymous_variant	0			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"Septins"	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.618G>A	7.37:g.55902220C>T		873	0	0		0	0	0	55869714	837	39.7	551	A6NCC2|B4DXD6	Silent	SNP	HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T206	ENST00000388975.3	37	c.618	CCDS5519.2	7																																																																																			-	HMMPfam_Septin,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.348	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	protein_coding	OTTHUMT00000251489.2	C	NM_207366		55869714	-1	no_errors	NM_207366.2	genbank	human	validated	54_36p	silent	SNP	0.808	T	T	55902220	C	T	55902220	2	4	183	1	0	0	0	0	0	0	0	1	14063	523	19	1		1	SEPT14	7	55902220	Silent	SNP	C	TCGA-AB-2999-03A-01D-0739-09		55902220	103236443	4	2048											
PPP1R9A	55607	genome.wustl.edu	37	7	94879489	94879489	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr7:94879489A>G	ENST00000433881.1	+	9	2784	c.2252A>G	c.(2251-2253)aAa>aGa	p.K751R	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K751R|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K751R|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.K751R|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K751R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K773R			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	751	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.K751R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGCATCTCAAAGAGACTCAA	0.383										HNSCC(28;0.073)																												dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											79	74	75					7																	94879489		2203	4300	6503	94717425	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits", "Sterile alpha motif (SAM) domain containing"	14946	protein-coding gene	gene with protein product		602468	"protein phosphatase 1, regulatory (inhibitor) subunit 9A"			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2252A>G	7.37:g.94879489A>G	ENSP00000398870:p.Lys751Arg	1282	0.08	1					94717425	827	40.98	575	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_2	p.K751R	ENST00000433881.1	37	c.2252	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	A	18.18	3.566946	0.65651	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.16743	2.32;2.35;2.34;2.35;2.35;2.34	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.35941	0.0949	L	0.54323	1.7	0.53688	D	0.999974	B;P;P;D;D	0.76494	0.409;0.729;0.729;0.999;0.968	B;P;B;D;P	0.80764	0.168;0.544;0.439;0.994;0.476	T	0.02075	-1.1218	10	0.28530	T	0.3	.	15.5801	0.76428	1.0:0.0:0.0:0.0	.	751;751;773;751;751	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	R	773;751;751;751;751;751	ENSP00000405514:K773R;ENSP00000344524:K751R;ENSP00000411342:K751R;ENSP00000398870:K751R;ENSP00000289495:K751R;ENSP00000402893:K751R	ENSP00000289495:K751R	K	+	2	0	PPP1R9A	94717425	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	6.118000	0.71583	2.326000	0.78906	0.533000	0.62120	AAA	-	NULL		0.383	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	protein_coding	OTTHUMT00000340662.1	A	NM_001166160		94717425	1	no_errors	NM_017650.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	94879489	A	G	94879489	3	3	183	1	0	0	0	0	1	0	0	0	12378	14	1	3	2352	3	PPP1R9A	7	94879489	Missense_Mutation	SNP	A	TCGA-AB-2999-03A-01D-0739-09	38977269	94879489	64259174	5	2049											
HTR5A	3361	genome.wustl.edu	37	7	154862893	154862893	+	Missense_Mutation	SNP	C	C	G	rs144847277		TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr7:154862893C>G	ENST00000287907.2	+	1	860	c.284C>G	c.(283-285)cCg>cGg	p.P95R	HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.G41R|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.G41R	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	95					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.P95R(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CTGGTCATGCCGCTGAGCCTG	0.682																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											56	43	48					7																	154862893		2203	4299	6502	154493826	SO:0001583	missense	0				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"5-HT (serotonin) receptors", "GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"	5300	protein-coding gene	gene with protein product		601305	"5-hydroxytryptamine (serotonin) receptor 5A"			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.284C>G	7.37:g.154862893C>G	ENSP00000287907:p.Pro95Arg	584	0	0					154493826	378	39.62	248	Q2M2D2	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.P95R	ENST00000287907.2	37	c.284	CCDS5936.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.4|27.4	4.830688|4.830688	0.91036|0.91036	.|.	.|.	ENSG00000220575|ENSG00000157219	ENST00000395731;ENST00000543018|ENST00000287907	.|T	.|0.52057	.|0.68	4.52|4.52	4.52|4.52	0.55395|0.55395	.|GPCR, rhodopsin-like superfamily (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79627|0.79627	0.4478|0.4478	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.97110|0.97110	1.0|1.0	D|D	0.87449|0.87449	0.2400|0.2400	8|10	0.87932|0.87932	D|D	0|0	.|.	17.4477|17.4477	0.87583|0.87583	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	41|95	B7Z8E6|P47898	.|5HT5A_HUMAN	R|R	41|95	.|ENSP00000287907:P95R	ENSP00000379080:G41R|ENSP00000287907:P95R	G|P	-|+	1|2	0|0	AC093726.4|HTR5A	154493826|154493826	1.000000|1.000000	0.71417|0.71417	0.943000|0.943000	0.38184|0.38184	0.926000|0.926000	0.56050|0.56050	7.331000|7.331000	0.79192|0.79192	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	GGC|CCG	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.682	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR5A	protein_coding	OTTHUMT00000322240.1	C	NM_024012		154493826	1	no_errors	NM_024012.2	genbank	human	reviewed	54_36p	missense	SNP	0.994	G	G	154862893	C	G	154862893	3	3	183	1	0	0	0	0	1	0	0	0	7450	652	23	4	286	4	HTR5A	7	154862893	Missense_Mutation	SNP	C	TCGA-AB-2999-03A-01D-0739-09	59983404	154862893	4275770	6	2050											
ABL1	25	genome.wustl.edu	37	9	133760430	133760430	+	Missense_Mutation	SNP	C	C	T	rs372727500		TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr9:133760430C>T	ENST00000318560.5	+	11	3134	c.2753C>T	c.(2752-2754)cCg>cTg	p.P918L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	918	DNA-binding. {ECO:0000250}.|Pro-rich.			SPS -> RPG (in Ref. 1; AAA51561). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.P918L(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	TCGCAGAGCCCGAGCCAGGAG	0.662			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"																																	dbGAP		Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	9						C	LEU/PRO,LEU/PRO	2,4334		0,2,2166	11	15	14		2753,2810	2.2	1	9		14	0,8554		0,0,4277	no	missense,missense	ABL1	NM_005157.4,NM_007313.2	98,98	0,2,6443	TT,TC,CC		0.0,0.0461,0.0155	benign,benign	918/1131,937/1150	133760430	2,12888	2168	4277	6445	132750251	SO:0001583	missense	0			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"SH2 domain containing"	76	protein-coding gene	gene with protein product		189980	"v-abl Abelson murine leukemia viral oncogene homolog 1", "c-abl oncogene 1, receptor tyrosine kinase", "c-abl oncogene 1, non-receptor tyrosine kinase"	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.2753C>T	9.37:g.133760430C>T	ENSP00000323315:p.Pro918Leu	380	0	0		18	43.75	14	132750251	298	40.75	207	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	HMMPfam_SH2,HMMSmart_SM00252,HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH3-domain,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,superfamily_Protein kinase-like (PK-like),HMMPfam_F_actin_bind,HMMSmart_SM00808,PatternScan_PROTEIN_KINASE_ATP,superfamily_SH2 domain	p.P937L	ENST00000318560.5	37	c.2810	CCDS35166.1	9	.	.	.	.	.	.	.	.	.	.	C	12.16	1.856110	0.32791	4.61E-4	0.0	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.14266	2.52;2.52	5.03	2.18	0.27775	.	0.325825	0.35013	N	0.003509	T	0.07052	0.0179	N	0.17082	0.46	0.80722	D	1	B;B	0.14805	0.003;0.011	B;B	0.09377	0.002;0.004	T	0.24977	-1.0145	10	0.46703	T	0.11	.	4.5462	0.12081	0.1543:0.5993:0.0:0.2464	.	918;955	P00519;Q59FK4	ABL1_HUMAN;.	L	733;937;918	ENSP00000361423:P937L;ENSP00000323315:P918L	ENSP00000323315:P918L	P	+	2	0	ABL1	132750251	0.417000	0.25432	0.988000	0.46212	0.885000	0.51271	1.033000	0.30191	0.534000	0.28695	0.561000	0.74099	CCG	-	NULL		0.662	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	protein_coding	OTTHUMT00000054684.1	C	NM_007313		132750251	1	no_errors	NM_007313.3	genbank	human	reviewed	54_36p	missense	SNP	0.837	T	T	133760430	C	T	133760430	3	4	183	1	0	0	0	0	1	0	0	0	92	652	23	1	2935	1	ABL1	9	133760430	Missense_Mutation	SNP	C	TCGA-AB-2999-03A-01D-0739-09		133760430	7453001	7	2051											
UNC5B	219699	genome.wustl.edu	37	10	73055655	73055655	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr10:73055655C>T	ENST00000335350.6	+	14	2679	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	UNC5B_ENST00000373192.4_Missense_Mutation_p.R744C	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	755	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.R755C(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCACAACCTGCGCCTCTCCCT	0.617																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											145	112	123					10																	73055655		2203	4300	6503	72725661	SO:0001583	missense	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"Immunoglobulin superfamily / I-set domain containing"	12568	protein-coding gene	gene with protein product		607870	"unc5 (C.elegans homolog) b"				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2263C>T	10.37:g.73055655C>T	ENSP00000334329:p.Arg755Cys	955	0	0		1	50	1	72725661	363	41.64	259	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	HMMPfam_Death,HMMSmart_SM00005,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_ZU5,HMMSmart_SM00218,HMMSmart_SM00408,HMMSmart_SM00409,superfamily_DEATH domain,HMMPfam_I-set,superfamily_Immunoglobulin	p.R755C	ENST00000335350.6	37	c.2263	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110795	0.77210	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48201	0.89;0.82	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	L	0.33189	0.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68621	0.959;0.934	T	0.47923	-0.9079	10	0.19147	T	0.46	-37.7918	17.8363	0.88699	0.0:1.0:0.0:0.0	.	744;755	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	C	755;744	ENSP00000334329:R755C;ENSP00000362288:R744C	ENSP00000334329:R755C	R	+	1	0	UNC5B	72725661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.569000	0.60865	2.437000	0.82529	0.591000	0.81541	CGC	-	NULL		0.617	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	protein_coding	OTTHUMT00000048541.1	C	NM_170744		72725661	1	no_errors	NM_170744.3	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	73055655	C	T	73055655	3	4	183	1	0	0	0	0	1	0	0	0	16989	768	27	1	2317	1	UNC5B	10	73055655	Missense_Mutation	SNP	C	TCGA-AB-2999-03A-01D-0739-09		73055655	62479092	8	2052											
GDPD4	220032	genome.wustl.edu	37	11	76982212	76982212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr11:76982212C>T	ENST00000376217.2	-	6	613	c.363G>A	c.(361-363)tgG>tgA	p.W121*	GDPD4_ENST00000527489.1_5'Flank|GDPD4_ENST00000315938.4_Nonsense_Mutation_p.W121*			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	121					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)	p.W121*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AGGCCACAGGCCAGAAAAGGA	0.478																																						dbGAP											1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	11											106	91	96					11																	76982212		2200	4292	6492	76659860	SO:0001587	stop_gained	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.363G>A	11.37:g.76982212C>T	ENSP00000365390:p.Trp121*	1967	0.05	1		0	0	0	76659860	1189	42.01	862	Q7Z5B0	Nonsense_Mutation	SNP	HMMPfam_GDPD,superfamily_PLC-like_Pdiesterase_TIM-brl	p.W121*	ENST00000376217.2	37	c.363		11	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477869	0.63849	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	.	.	.	4.55	3.61	0.41365	.	0.065479	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4629	9.5598	0.39362	0.2095:0.7905:0.0:0.0	.	.	.	.	X	121	.	ENSP00000320815:W121X	W	-	3	0	GDPD4	76659860	1.000000	0.71417	1.000000	0.80357	0.305000	0.27757	2.358000	0.44134	1.100000	0.41517	0.491000	0.48974	TGG	-	NULL		0.478	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	protein_coding	OTTHUMT00000382075.1	C	NM_182833		76659860	-1	no_errors	NM_182833.1	genbank	human	provisional	54_36p	nonsense	SNP	0.997	T	T	76982212	C	T	76982212	4	4	183	1	0	0	0	0	0	1	0	0	6326	740	26	2	1243	2	GDPD4	11	76982212	Nonsense_Mutation	SNP	C	TCGA-AB-2999-03A-01D-0739-09		76982212	58024304	9	2053											
MAGEL2	54551	genome.wustl.edu	37	15	23890248	23890248	+	Missense_Mutation	SNP	C	C	T	rs368034669		TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr15:23890248C>T	ENST00000532292.1	-	1	927	c.833G>A	c.(832-834)cGc>cAc	p.R278H		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	161					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTTGCCGGAGCGGCGTGGCGG	0.657																																						dbGAP											0			15						C	HIS/ARG	0,4376		0,0,2188	39	46	44		2642	2.3	0	15		44	1,8581		0,1,4290	no	missense	MAGEL2	NM_019066.4	29	0,1,6478	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	881/1250	23890248	1,12957	2188	4291	6479	21441341	SO:0001583	missense	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.833G>A	15.37:g.23890248C>T	ENSP00000433433:p.Arg278His	276	0	0					21441341	584	34.16	304		Missense_Mutation	SNP	HMMPfam_MAGE	p.R278H	ENST00000532292.1	37	c.833		15	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855836	0.32791	0.0	1.17E-4	ENSG00000254585	ENST00000532292	.	.	.	4.22	2.35	0.29111	.	.	.	.	.	T	0.22742	0.0549	N	0.24115	0.695	0.09310	N	1	.	.	.	.	.	.	T	0.20107	-1.0285	5	.	.	.	.	4.4156	0.11454	0.0:0.6117:0.1869:0.2014	.	.	.	.	T	310	.	.	A	-	1	0	MAGEL2	21441341	0.002000	0.14202	0.035000	0.18076	0.342000	0.28953	0.342000	0.19926	0.734000	0.32515	0.655000	0.94253	GCT	-	NULL		0.657	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	protein_coding	OTTHUMT00000395182.2	C	NM_019066		21441341	-1	no_errors	NM_019066.3	genbank	human	validated	54_36p	missense	SNP	0.002	T	T	23890248	C	T	23890248	3	4	183	1	0	0	0	0	1	0	0	0	9189	768	27	1	1111	1	MAGEL2	15	23890248	Missense_Mutation	SNP	C	TCGA-AB-2999-03A-01D-0739-09		23890248	78641144	10	2054											
MEGF11	84465	genome.wustl.edu	37	15	66190368	66190368	+	Silent	SNP	G	G	A	rs143310404		TCGA-AB-2999-03A-01D-0739-09	TCGA-AB-2999-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1111edc5-c274-453b-88b4-a992ac879d74	3357e03b-0ffd-40ac-acd4-4806dff7d769	g.chr15:66190368G>A	ENST00000409699.2	-	23	3211	c.3039C>T	c.(3037-3039)taC>taT	p.Y1013Y	MEGF11_ENST00000395625.2_Silent_p.Y938Y|MEGF11_ENST00000422354.1_Silent_p.Y1013Y|MEGF11_ENST00000478721.1_5'Flank|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Silent_p.Y938Y			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	1013					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y938Y(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGGTAGGTCGTATGCATTCT	0.478																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	15						G		2,4400	4.2+/-10.8	0,2,2199	138	123	128		3039	3.1	1	15	dbSNP_134	128	0,8598		0,0,4299	no	coding-synonymous	MEGF11	NM_032445.2		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		1013/1045	66190368	2,12998	2201	4299	6500	63977422	SO:0001819	synonymous_variant	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.3039C>T	15.37:g.66190368G>A		836	0	0					63977422	619	21.94	174	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Silent	SNP	HMMPfam_Laminin_EGF,HMMSmart_EGF_Lam,HMMSmart_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_2,superfamily_SSF57196	p.Y938	ENST00000409699.2	37	c.2814	CCDS10213.2	15																																																																																			-	NULL		0.478	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	protein_coding	OTTHUMT00000329307.2	G	NM_032445		63977422	-1	no_errors	NM_032445.2	genbank	human	validated	54_36p	silent	SNP	1.000	A	A	66190368	G	A	66190368	2	1	183	1	0	0	0	0	0	0	0	1	9461	1140	40	1		1	MEGF11	15	66190368	Silent	SNP	G	TCGA-AB-2999-03A-01D-0739-09	42300120	66190368	36341024	11	2055											
CLCN6	1185	genome.wustl.edu	37	1	11897508	11897508	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-3000-03A-01D-0739-09	TCGA-AB-3000-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3	c9e8fc7e-5ba0-424a-8659-433c2a7470ea	g.chr1:11897508G>C	ENST00000346436.6	+	20	2299	c.2247G>C	c.(2245-2247)caG>caC	p.Q749H	CLCN6_ENST00000376496.3_Missense_Mutation_p.Q749H|CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.Q727H	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	749					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.Q749H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGGTCGCAGCTTGTCACCC	0.582																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											105	91	95					1																	11897508		2203	4300	6503	11820095	SO:0001583	missense	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"Ion channels / Chloride channels : Voltage-sensitive"	2024	protein-coding gene	gene with protein product		602726	"chloride channel 6"			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2247G>C	1.37:g.11897508G>C	ENSP00000234488:p.Gln749His	1118	19.03	263		20	41.18	14	11820095	469	53.13	534	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	HMMPfam_CBS,HMMSmart_SM00116,HMMPfam_Voltage_CLC,superfamily_Clc chloride channel,superfamily_CBS-domain	p.Q749H	ENST00000346436.6	37	c.2247	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.247425	0.59103	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.88046	-2.33;-2.33;-2.33	4.94	2.07	0.26955	.	0.000000	0.85682	D	0.000000	T	0.75019	0.3793	L	0.31526	0.94	0.80722	D	1	P;B	0.36412	0.552;0.417	B;B	0.33042	0.157;0.075	T	0.65162	-0.6235	10	0.13108	T	0.6	-24.9373	9.7057	0.40214	0.2267:0.0:0.7733:0.0	.	727;749	F8W9R3;P51797	.;CLCN6_HUMAN	H	749;727;749	ENSP00000234488:Q749H;ENSP00000365670:Q727H;ENSP00000365679:Q749H	ENSP00000234488:Q749H	Q	+	3	2	CLCN6	11820095	1.000000	0.71417	0.987000	0.45799	0.998000	0.95712	3.720000	0.54933	0.285000	0.22329	0.561000	0.74099	CAG	-	HMMPfam_CBS		0.582	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	protein_coding	OTTHUMT00000006639.2	G	NM_001286		11820095	1	no_errors	NM_001286.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	11897508	G	C	11897508	3	2	184	1	0	0	0	0	1	0	0	0	3467	962	34	4	2335	4	CLCN6	1	11897508	Missense_Mutation	SNP	G	TCGA-AB-3000-03A-01D-0739-09		11897508	237353113	1	2056											
DYSF	8291	genome.wustl.edu	37	2	71795376	71795376	+	Silent	SNP	C	C	T			TCGA-AB-3000-03A-01D-0739-09	TCGA-AB-3000-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3	c9e8fc7e-5ba0-424a-8659-433c2a7470ea	g.chr2:71795376C>T	ENST00000258104.3	+	26	2995	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	DYSF_ENST00000409582.3_Silent_p.D923D|DYSF_ENST00000410020.3_Silent_p.D924D|DYSF_ENST00000394120.2_Silent_p.D907D|DYSF_ENST00000429174.2_Silent_p.D906D|DYSF_ENST00000409651.1_Silent_p.D938D|DYSF_ENST00000409366.1_Silent_p.D907D|DYSF_ENST00000410041.1_Silent_p.D924D|DYSF_ENST00000409762.1_Silent_p.D923D|DYSF_ENST00000413539.2_Silent_p.D937D|DYSF_ENST00000409744.1_Silent_p.D893D	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	906					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.D906D(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGTTTTCTGACGTCACGGGCA	0.592																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											194	198	197					2																	71795376		2203	4300	6503	71648884	SO:0001819	synonymous_variant	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"fer-1-like family member 1"	603009	"limb girdle muscular dystrophy 2B (autosomal recessive)"	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.2718C>T	2.37:g.71795376C>T		1456	20.76	383		17	48.48	16	71648884	379	45.64	319	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	HMMPfam_C2,HMMSmart_SM00239,HMMSmart_SM00693,HMMSmart_SM00694,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_FerA,HMMPfam_FerB,HMMPfam_FerI	p.D906	ENST00000258104.3	37	c.2718	CCDS1918.1	2																																																																																			-	HMMSmart_SM00693		0.592	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	C	NM_003494		71648884	1	no_errors	NM_003494.1	genbank	human	reviewed	54_36p	silent	SNP	0.981	T	T	71795376	C	T	71795376	2	4	184	1	0	0	0	0	0	0	0	1	4859	535	19	1		1	DYSF	2	71795376	Silent	SNP	C	TCGA-AB-3000-03A-01D-0739-09		71795376	171403997	2	2057											
CEBPA	1050	genome.wustl.edu	37	19	33792390	33792391	+	In_Frame_Ins	INS	-	-	CCA			TCGA-AB-3000-03A-01D-0739-09	TCGA-AB-3000-11A-01D-0739-09	-	-	-	CCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3	c9e8fc7e-5ba0-424a-8659-433c2a7470ea	g.chr19:33792390_33792391insCCA	ENST00000498907.2	-	1	1079_1080	c.930_931insTGG	c.(928-933)acgcag>acgTGGcag	p.310_311TQ>TWQ	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	310	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T310_Q311insKQRNVET(4)|p.R306fs*48(3)|p.T310_Q311insS(2)|p.T310_Q311insT(2)|p.T310_Q311insV(2)|p.T310_Q311>insQRNVET(2)|p.T310_Q311insET(2)|p.Q311*(1)|p.H200_K352>Q(1)|p.?(1)|p.T310_Q312>K(1)|p.T310_Q311insL(1)|p.Q311>PQ(1)|p.T310_Q311insGGQT(1)|p.N307_Q312del(1)|p.T310_Q311insA(1)|p.Q311del(1)|p.T310_Q311del(1)|p.E309fs*13(1)|p.T310_Q311insKQ(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ACCTTCTGCTGCGTCTCCACGT	0.649			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	30	Insertion - In frame(18)|Complex - deletion inframe(5)|Deletion - In frame(3)|Substitution - Nonsense(1)|Unknown(1)|Complex - frameshift(1)|Complex - insertion inframe(1)	haematopoietic_and_lymphoid_tissue(30)	19																																								38484231	SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.930_931insTGG	19.37:g.33792390_33792391insCCA	ENSP00000427514:p.Thr310_Gln311insTrp	110	16.03	21		327	39.22	211	38484230	76	40.16	51	A7LNP2|P78319|Q05CA4	In_Frame_Ins	INS	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.310in_frame_insW	ENST00000498907.2	37	c.931_930	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.649	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	-	NM_004364		38484231	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	CCA	CCA	33792391	-	CCA	33792390	7	5	184	1	0	1	1	0	0	0	0	0	3199	1328	46	0	149	0	CEBPA	19	33792390	In_Frame_Ins	INS	-	TCGA-AB-3000-03A-01D-0739-09		33792390	25336593	3	2058											
CEBPA	1050	genome.wustl.edu	37	19	33793146	33793146	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AB-3000-03A-01D-0739-09	TCGA-AB-3000-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3	c9e8fc7e-5ba0-424a-8659-433c2a7470ea	g.chr19:33793146C>A	ENST00000498907.2	-	1	324	c.175G>T	c.(175-177)Gag>Tag	p.E59*	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.9_ENST00000593041.1_lincRNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	59					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G54fs*47(1)|p.Y7_G130del(1)|p.E59fs*45(1)|p.E59fs*46(1)|p.E59*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ATGGACGTCTCGTGCTCGCAG	0.726			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	5	Deletion - Frameshift(3)|Substitution - Nonsense(1)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(5)	19											4	5	4					19																	33793146		1190	2450	3640	38484986	SO:0001587	stop_gained	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.175G>T	19.37:g.33793146C>A	ENSP00000427514:p.Glu59*	0	100	1		177	56.2	231	38484986	1	0	0	A7LNP2|P78319|Q05CA4	Nonsense_Mutation	SNP	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.E59*	ENST00000498907.2	37	c.175	CCDS54243.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.107933	0.97291	.	.	ENSG00000245848	ENST00000498907	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6118	0.68522	0.0:1.0:0.0:0.0	.	.	.	.	X	59	.	ENSP00000427514:E59X	E	-	1	0	CEBPA	38484986	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.432000	0.59922	1.733000	0.51620	0.289000	0.19496	GAG	-	NULL		0.726	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	C	NM_004364		38484986	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A	A	33793146	C	A	33793146	4	1	184	1	0	0	0	0	0	1	0	0	3199	893	31	4	905	4	CEBPA	19	33793146	Nonsense_Mutation	SNP	C	TCGA-AB-3000-03A-01D-0739-09	756	33793146	25335837	4	2059											
TCEAL3	85012	genome.wustl.edu	37	X	102864442	102864442	+	Silent	SNP	A	A	G			TCGA-AB-3000-03A-01D-0739-09	TCGA-AB-3000-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	3d9c2b87-cd6b-4a73-b9a7-9be8a4f37fd3	c9e8fc7e-5ba0-424a-8659-433c2a7470ea	g.chrX:102864442A>G	ENST00000372628.1	+	3	808	c.450A>G	c.(448-450)caA>caG	p.Q150Q	TCEAL3_ENST00000243286.3_Silent_p.Q150Q|TCEAL3_ENST00000372627.5_Silent_p.Q150Q|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	150					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q150Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CAAGGGCTCAAGAGGAGCTAA	0.512																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											293	254	267					X																	102864442		2203	4300	6503	102751098	SO:0001819	synonymous_variant	0			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.450A>G	X.37:g.102864442A>G		839	16.02	161		16	0	0	102751098	393	28.83	160	D3DXA4	Silent	SNP	HMMPfam_TFA	p.Q150	ENST00000372628.1	37	c.450	CCDS14511.1	X																																																																																			-	HMMPfam_TFA		0.512	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	protein_coding	OTTHUMT00000057737.1	A	NM_032926		102751098	1	no_errors	NM_001006933.1	genbank	human	reviewed	54_36p	silent	SNP	1.000	G	G	102864442	A	G	102864442	2	3	184	1	0	0	0	0	0	0	0	1	15669	69	3	3		3	TCEAL3	23	102864442	Silent	SNP	A	TCGA-AB-3000-03A-01D-0739-09		102864442	52406118	5	2060											
CACNA1E	777	genome.wustl.edu	37	1	181754552	181754552	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr1:181754552C>G	ENST00000367573.2	+	42	5677	c.5677C>G	c.(5677-5679)Cag>Gag	p.Q1893E	CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q1874E|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1500E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1893E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1874E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1844E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1825E	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1893					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.Q1893E(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTGGAGGAACAGGTGAAAGT	0.537																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											59	61	60					1																	181754552		2131	4248	6379	180021175	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels", "EF-hand domain containing"	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5677C>G	1.37:g.181754552C>G	ENSP00000356545:p.Gln1893Glu	1466	0.41	6					180021175	878	30.04	377	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	HMMPfam_Ion_trans,HMMPfam_Ca_chan_IQ,superfamily_Voltage-gated potassium channels	p.Q1893E	ENST00000367573.2	37	c.5677	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538974	0.85917	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	L	0.47716	1.5	0.80722	D	1	P;D	0.58268	0.831;0.982	B;D	0.70227	0.319;0.968	T	0.71978	-0.4429	10	0.41790	T	0.15	.	19.3614	0.94440	0.0:1.0:0.0:0.0	.	1874;1893	Q15878-2;Q15878-3	.;.	E	1893;1874;1844;1825;1500;1874;1893	ENSP00000356542:Q1893E;ENSP00000434814:Q1874E;ENSP00000350183:Q1844E;ENSP00000351101:Q1825E;ENSP00000356539:Q1500E;ENSP00000353222:Q1874E;ENSP00000356545:Q1893E	ENSP00000350183:Q1844E	Q	+	1	0	CACNA1E	180021175	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	2.735000	0.93741	0.655000	0.94253	CAG	-	HMMPfam_Ca_chan_IQ		0.537	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	C	NM_000721		180021175	1	no_errors	NM_000721.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	181754552	C	G	181754552	3	3	185	1	0	0	0	0	1	0	0	0	2542	479	17	4	5843	4	CACNA1E	1	181754552	Missense_Mutation	SNP	C	TCGA-AB-3001-03A-01D-0739-09		181754552	67496069	1	2061											
SPATS2L	26010	genome.wustl.edu	37	2	201337597	201337597	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr2:201337597G>T	ENST00000358677.5	+	12	1350	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I	SPATS2L_ENST00000360760.5_Missense_Mutation_p.S299I|SPATS2L_ENST00000409385.1_Missense_Mutation_p.S308I|SPATS2L_ENST00000409140.3_Missense_Mutation_p.S368I|SPATS2L_ENST00000409755.3_Missense_Mutation_p.S398I|SPATS2L_ENST00000409151.1_Missense_Mutation_p.S376I|SPATS2L_ENST00000409718.1_Missense_Mutation_p.S368I|SPATS2L_ENST00000409988.3_Missense_Mutation_p.S368I|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Missense_Mutation_p.S368I	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	368						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.S398I(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ACTCCCTGCAGCTCCCTGCTG	0.483																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	2											87	92	91					2																	201337597		1999	4180	6179	201045842	SO:0001583	missense	0			AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"DNA polymerase transactivated protein 6"	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.1103G>T	2.37:g.201337597G>T	ENSP00000351503:p.Ser368Ile	980	0.2	2		8	20	2	201045842	514	18.02	113	A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	HMMPfam_DUF1387	p.S368I	ENST00000358677.5	37	c.1103	CCDS46483.1	2	.	.	.	.	.	.	.	.	.	.	G	18.65	3.668970	0.67814	.	.	ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000409140;ENST00000409755;ENST00000409151	.	.	.	5.39	3.54	0.40534	.	0.212211	0.42964	D	0.000624	T	0.58935	0.2157	L	0.54323	1.7	0.38400	D	0.945639	P;B;B	0.38677	0.642;0.402;0.188	B;B;B	0.43445	0.42;0.2;0.17	T	0.65311	-0.6199	9	0.66056	D	0.02	-14.2592	14.469	0.67504	0.0:0.2782:0.7218:0.0	.	398;299;368	B4DT67;Q9NUQ6-2;Q9NUQ6	.;.;SPS2L_HUMAN	I	368;368;368;308;368;299;368;398;376	.	ENSP00000351503:S368I	S	+	2	0	SPATS2L	201045842	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.813000	0.27225	0.779000	0.33543	0.655000	0.94253	AGC	-	HMMPfam_DUF1387		0.483	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC26010	protein_coding	OTTHUMT00000336208.3	G	NM_015535		201045842	1	no_errors	NM_001100422.1	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	201337597	G	T	201337597	3	4	185	1	0	0	0	0	1	0	0	0	15019	971	34	4	1141	4	SPATS2L	2	201337597	Missense_Mutation	SNP	G	TCGA-AB-3001-03A-01D-0739-09		201337597	41861776	2	2062											
SI	6476	genome.wustl.edu	37	3	164730805	164730805	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr3:164730805G>T	ENST00000264382.3	-	34	4087	c.4025C>A	c.(4024-4026)aCa>aAa	p.T1342K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1342	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.T1342K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTTATCTATTGTTATGTTGGG	0.338										HNSCC(35;0.089)																												dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											124	122	123					3																	164730805		2203	4300	6503	166213499	SO:0001583	missense	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"Oligosaccharide alpha-1,6-glucosidase"	609845	"sucrase-isomaltase"			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4025C>A	3.37:g.164730805G>T	ENSP00000264382:p.Thr1342Lys	987	0.4	4					166213499	510	30.8	227	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2,HMMPfam_Trefoil,HMMSmart_SM00018,superfamily_Trefoil,superfamily_(Trans)glycosidases,PatternScan_P_TREFOIL	p.T1342K	ENST00000264382.3	37	c.4025	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143941	0.57044	.	.	ENSG00000090402	ENST00000264382	D	0.88664	-2.41	4.35	4.35	0.52113	Glycoside hydrolase, superfamily (1);	0.252260	0.38548	N	0.001645	D	0.90906	0.7142	M	0.64404	1.975	0.38371	D	0.944881	P	0.50819	0.939	P	0.56788	0.806	D	0.91868	0.5505	10	0.56958	D	0.05	.	10.3626	0.44003	0.0915:0.0:0.9085:0.0	.	1342	P14410	SUIS_HUMAN	K	1342	ENSP00000264382:T1342K	ENSP00000264382:T1342K	T	-	2	0	SI	166213499	0.949000	0.32298	0.975000	0.42487	0.399000	0.30720	1.931000	0.40134	2.210000	0.71456	0.585000	0.79938	ACA	-	HMMPfam_Glyco_hydro_31,superfamily_(Trans)glycosidases		0.338	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	protein_coding	OTTHUMT00000350116.1	G	NM_001041		166213499	-1	no_errors	NM_001041.2	genbank	human	validated	54_36p	missense	SNP	0.808	T	T	164730805	G	T	164730805	3	4	185	1	0	0	0	0	1	0	0	0	14297	1377	48	4	1518	4	SI	3	164730805	Missense_Mutation	SNP	G	TCGA-AB-3001-03A-01D-0739-09		164730805	33291625	3	2063											
RUFY1	80230	genome.wustl.edu	37	5	179025796	179025796	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr5:179025796C>G	ENST00000319449.4	+	14	1747	c.1735C>G	c.(1735-1737)Ctg>Gtg	p.L579V	RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.L471V|RUFY1_ENST00000437570.2_Missense_Mutation_p.L471V	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	579					endocytosis (GO:0006897)|regulation of endocytosis (GO:0030100)	cytoplasm (GO:0005737)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	lipid binding (GO:0008289)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.L471V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGGATGGAGCTGCAACAAGT	0.527										HNSCC(44;0.11)																												dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											110	106	108					5																	179025796		2203	4300	6503	178958402	SO:0001583	missense	0			AF361055	CCDS4445.2, CCDS34312.1	5q35.3	2008-02-05			ENSG00000176783	ENSG00000176783		"Zinc fingers, FYVE domain containing"	19760	protein-coding gene	gene with protein product		610327				11877430	Standard	NM_001040451		Approved	FLJ22251, ZFYVE12, RABIP4	uc003mka.2	Q96T51	OTTHUMG00000130913	ENST00000319449.4:c.1735C>G	5.37:g.179025796C>G	ENSP00000325594:p.Leu579Val	752	0.66	5		44	22.81	13	178958402	678	18.68	156	Q59FF3|Q71S93|Q9H6I3	Missense_Mutation	SNP	HMMPfam_FYVE,HMMSmart_SM00064,HMMPfam_RUN,HMMSmart_SM00593,superfamily_FYVE/PHD zinc finger	p.L579V	ENST00000319449.4	37	c.1735	CCDS4445.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.852|9.852	1.193863|1.193863	0.22037|0.22037	.|.	.|.	ENSG00000176783|ENSG00000176783	ENST00000502434|ENST00000319449;ENST00000437570;ENST00000393438;ENST00000360569	.|T;T;T	.|0.55052	.|0.54;0.58;0.58	4.98|4.98	1.74|1.74	0.24563|0.24563	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	T|T	0.51075|0.51075	0.1653|0.1653	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	.|B	.|0.28378	.|0.209	.|B	.|0.32393	.|0.145	T|T	0.47497|0.47497	-0.9113|-0.9113	5|10	.|0.37606	.|T	.|0.19	-9.1946|-9.1946	8.8794|8.8794	0.35365|0.35365	0.0:0.5889:0.0:0.4111|0.0:0.5889:0.0:0.4111	.|.	.|579	.|Q96T51	.|RUFY1_HUMAN	G|V	256|579;471;471;181	.|ENSP00000325594:L579V;ENSP00000390025:L471V;ENSP00000377087:L471V	.|ENSP00000325594:L579V	A|L	+|+	2|1	0|2	RUFY1|RUFY1	178958402|178958402	0.998000|0.998000	0.40836|0.40836	0.678000|0.678000	0.29963|0.29963	0.139000|0.139000	0.21198|0.21198	0.580000|0.580000	0.23803|0.23803	0.516000|0.516000	0.28340|0.28340	0.561000|0.561000	0.74099|0.74099	GCT|CTG	-	NULL		0.527	RUFY1-001	KNOWN	basic|CCDS	protein_coding	RUFY1	protein_coding	OTTHUMT00000253505.2	C	NM_001040451		178958402	1	no_errors	NM_025158.1	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	179025796	C	G	179025796	3	3	185	1	0	0	0	0	1	0	0	0	13738	796	28	4	1789	4	RUFY1	5	179025796	Missense_Mutation	SNP	C	TCGA-AB-3001-03A-01D-0739-09		179025796	1889464	4	2064											
HIVEP1	3096	genome.wustl.edu	37	6	12122529	12122529	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr6:12122529T>C	ENST00000379388.2	+	4	2833	c.2501T>C	c.(2500-2502)tTa>tCa	p.L834S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	834					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L834S(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGACTGTTTACCTATCACA	0.418																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											151	140	143					6																	12122529		1894	4128	6022	12230515	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"Zinc fingers, C2H2-type"	4920	protein-coding gene	gene with protein product		194540	"human immunodeficiency virus type I enhancer-binding protein 1", "zinc finger protein 40"	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.2501T>C	6.37:g.12122529T>C	ENSP00000368698:p.Leu834Ser	1407	0.21	3		1	66.67	2	12230515	233	31.67	108	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.L834S	ENST00000379388.2	37	c.2501	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585644	0.66105	.	.	ENSG00000095951	ENST00000379388	T	0.11277	2.79	6.01	6.01	0.97437	.	0.000000	0.29133	N	0.013043	T	0.18341	0.0440	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01036	-1.1473	9	.	.	.	-16.096	16.5285	0.84344	0.0:0.0:0.0:1.0	.	834	P15822	ZEP1_HUMAN	S	834	ENSP00000368698:L834S	.	L	+	2	0	HIVEP1	12230515	1.000000	0.71417	0.750000	0.31169	0.992000	0.81027	8.040000	0.89188	2.307000	0.77673	0.528000	0.53228	TTA	-	NULL		0.418	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	protein_coding	OTTHUMT00000039870.2	T	NM_002114		12230515	1	no_errors	NM_002114.2	genbank	human	validated	54_36p	missense	SNP	0.997	C	C	12122529	T	C	12122529	3	2	185	1	0	0	0	0	1	0	0	0	7186	1764	61	3	2511	3	HIVEP1	6	12122529	Missense_Mutation	SNP	T	TCGA-AB-3001-03A-01D-0739-09		12122529	158992538	5	2065											
WAC	51322	genome.wustl.edu	37	10	28905292	28905292	+	Splice_Site	SNP	G	G	A			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr10:28905292G>A	ENST00000354911.4	+	12	1907		c.e12+1		WAC_ENST00000347934.4_Splice_Site|WAC_ENST00000375646.1_Splice_Site|WAC_ENST00000375664.4_Splice_Site	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.?(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AGAGAAGCAGGTATGTTATGT	0.398																																						dbGAP											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	10											69	60	63					10																	28905292		2203	4300	6503	28945298	SO:0001630	splice_region_variant	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1746+1G>A	10.37:g.28905292G>A		746	0.53	4		6	14.29	1	28945298	685	30.67	303	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Splice_Site	SNP	-	e12+1	ENST00000354911.4	37	c.1746+1	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979753	0.74360	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9354	0.92583	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WAC	28945298	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	9.752000	0.98900	2.559000	0.86315	0.655000	0.94253	.	-	-		0.398	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	protein_coding	OTTHUMT00000047371.1	G	NM_100264	Intron	28945298	1	no_errors	NM_016628.3	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A	A	28905292	G	A	28905292	5	1	185	1	0	0	0	0	0	0	1	0	17244	1275	44	2	1793	2	WAC	10	28905292	Splice_Site	SNP	G	TCGA-AB-3001-03A-01D-0739-09		28905292	106629455	6	2066											
C10orf118	55088	genome.wustl.edu	37	10	115904370	115904370	+	Silent	SNP	G	G	A			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr10:115904370G>A	ENST00000369287.3	-	6	1373	c.1107C>T	c.(1105-1107)ggC>ggT	p.G369G	C10orf118_ENST00000543782.1_5'Flank	NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		369								p.G369G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TAGTCGTTTCGCCTTCCTAAA	0.303																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	10											127	117	121					10																	115904370		2202	4298	6500	115894360	SO:0001819	synonymous_variant	0																														ENST00000369287.3:c.1107C>T	10.37:g.115904370G>A		643	1.23	8		8	33.33	4	115894360	92	18.58	21	Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Silent	SNP	superfamily_Prefoldin	p.G369	ENST00000369287.3	37	c.1107	CCDS7587.1	10																																																																																			-	NULL		0.303	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf118	protein_coding	OTTHUMT00000050455.1	G			115894360	-1	no_errors	NM_018017.2	genbank	human	validated	54_36p	silent	SNP	0.950	A	A	115904370	G	A	115904370	2	1	185	1	0	0	0	0	0	0	0	1	1587	1074	38	1		1	C10orf118	10	115904370	Silent	SNP	G	TCGA-AB-3001-03A-01D-0739-09	86999078	115904370	19630377	7	2067											
LUZP2	338645	genome.wustl.edu	37	11	24759849	24759849	+	Splice_Site	SNP	G	G	C			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr11:24759849G>C	ENST00000336930.6	+	4	399		c.e4+1		LUZP2_ENST00000533227.1_Splice_Site|LUZP2_ENST00000531187.1_Splice_Site			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region (GO:0005576)		p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCAGGCTACTGTAAGTGTGTT	0.368																																						dbGAP											2	Unknown(2)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	11											81	83	83					11																	24759849		2203	4300	6503	24716425	SO:0001630	splice_region_variant	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.333+1G>C	11.37:g.24759849G>C		1289	0.39	5					24716425	1226	17.26	256	A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Splice_Site	SNP	-	e4+1	ENST00000336930.6	37	c.333+1	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128856	0.77549	.	.	ENSG00000187398	ENST00000336930;ENST00000529015;ENST00000533227	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4594	0.87616	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LUZP2	24716425	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	7.689000	0.84165	2.725000	0.93324	0.655000	0.94253	.	-	-		0.368	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	protein_coding	OTTHUMT00000387861.1	G	NM_001009909	Intron	24716425	1	no_errors	NM_001009909.2	genbank	human	validated	54_36p	splice_site	SNP	0.994	C	C	24759849	G	C	24759849	5	2	185	1	0	0	0	0	0	0	1	0	9087	1391	48	4	348	4	LUZP2	11	24759849	Splice_Site	SNP	G	TCGA-AB-3001-03A-01D-0739-09		24759849	110246667	8	2068											
LRIG3	121227	genome.wustl.edu	37	12	59279661	59279661	+	Missense_Mutation	SNP	C	C	T	rs371085189		TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr12:59279661C>T	ENST00000320743.3	-	10	1482	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	LRIG3_ENST00000379141.4_Missense_Mutation_p.R339H	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	399					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R399H(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGTAATAGAACGGATCCGATT	0.373			T	ROS1	NSCLC																																	dbGAP		Dom	yes		12	12q14.1	121227	leucine-rich repeats and immunoglobulin-like domains 3		E	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12						C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	159	178	172		1016,1196	5.9	1	12		172	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LRIG3	NM_001136051.1,NM_153377.3	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	339/1060,399/1120	59279661	1,13005	2203	4300	6503	57565928	SO:0001583	missense	0			AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"Immunoglobulin superfamily / I-set domain containing"	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1196G>A	12.37:g.59279661C>T	ENSP00000326759:p.Arg399His	798	0.75	6					57565928	198	29.79	84	Q6UXL7|Q8NC72	Missense_Mutation	SNP	HMMPfam_LRRCT,HMMSmart_SM00082,HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00365,superfamily_Immunoglobulin,superfamily_RNI-like	p.R399H	ENST00000320743.3	37	c.1196	CCDS8960.1	12	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316532	0.81469	0.0	1.16E-4	ENSG00000139263	ENST00000379141;ENST00000320743	T;T	0.59224	0.28;0.28	5.93	5.93	0.95920	.	0.000000	0.30383	N	0.009750	T	0.66597	0.2805	L	0.37561	1.115	0.46113	D	0.998879	P;D	0.89917	0.718;1.0	B;D	0.71870	0.281;0.975	T	0.62483	-0.6845	9	.	.	.	.	15.7776	0.78236	0.0:0.8645:0.1355:0.0	.	339;399	Q6UXM1-2;Q6UXM1	.;LRIG3_HUMAN	H	339;399	ENSP00000368436:R339H;ENSP00000326759:R399H	.	R	-	2	0	LRIG3	57565928	0.997000	0.39634	0.999000	0.59377	0.504000	0.33889	1.898000	0.39809	2.805000	0.96524	0.655000	0.94253	CGT	-	HMMPfam_LRR_1,HMMSmart_SM00369,HMMSmart_SM00365,superfamily_RNI-like		0.373	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG3	protein_coding	OTTHUMT00000406623.1	C	NM_153377		57565928	-1	no_errors	NM_153377.1	genbank	human	provisional	54_36p	missense	SNP	0.998	T	T	59279661	C	T	59279661	3	4	185	1	0	0	0	0	1	0	0	0	8946	536	19	1	2203	1	LRIG3	12	59279661	Missense_Mutation	SNP	C	TCGA-AB-3001-03A-01D-0739-09		59279661	74572234	9	2069											
PRPF8	10594	genome.wustl.edu	37	17	1561947	1561947	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chr17:1561947C>T	ENST00000572621.1	-	32	5514	c.5249G>A	c.(5248-5250)gGg>gAg	p.G1750E	PRPF8_ENST00000304992.6_Missense_Mutation_p.G1750E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1750	Involved in interaction with pre-mRNA 5' splice site.|Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.G1750E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGCTGTAGCCCCTTGCGGAT	0.498																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17											145	128	134					17																	1561947		2203	4300	6503	1508697	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"PRP8 pre-mRNA processing factor 8 homolog (yeast)", "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.5249G>A	17.37:g.1561947C>T	ENSP00000460348:p.Gly1750Glu	1403	0.43	6		294	25.76	102	1508697	394	19.43	95	O14547|O75965	Missense_Mutation	SNP	HMMPfam_Mov34,HMMSmart_SM00232,HMMPfam_PRO8NT,HMMPfam_PROCN,HMMPfam_PROCT,HMMPfam_U6-snRNA_bdg,HMMPfam_U5_2-snRNA_bdg,HMMPfam_RRM_4	p.G1750E	ENST00000572621.1	37	c.5249	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	c	20.9	4.059972	0.76074	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	T	0.80304	-1.36	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.90800	0.7111	M	0.92122	3.275	0.80722	D	1	P	0.46277	0.875	P	0.53689	0.732	D	0.91604	0.5297	10	0.59425	D	0.04	-16.9033	20.2946	0.98546	0.0:1.0:0.0:0.0	.	1750	Q6P2Q9	PRP8_HUMAN	E	1750;275	ENSP00000304350:G1750E	ENSP00000304350:G1750E	G	-	2	0	PRPF8	1508697	1.000000	0.71417	0.996000	0.52242	0.234000	0.25298	7.818000	0.86416	2.804000	0.96469	0.462000	0.41574	GGG	-	NULL		0.498	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	protein_coding	OTTHUMT00000438412.2	C			1508697	-1	no_errors	NM_006445.3	genbank	human	reviewed	54_36p	missense	SNP	0.997	T	T	1561947	C	T	1561947	3	4	185	1	0	0	0	0	1	0	0	0	12575	623	22	2	1802	2	PRPF8	17	1561947	Missense_Mutation	SNP	C	TCGA-AB-3001-03A-01D-0739-09		1561947	79633263	10	2070											
USP9X	8239	genome.wustl.edu	37	X	41010296	41010296	+	Silent	SNP	G	G	A			TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chrX:41010296G>A	ENST00000324545.8	+	13	2382	c.1749G>A	c.(1747-1749)gcG>gcA	p.A583A	USP9X_ENST00000378308.2_Silent_p.A583A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	583					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.A576A(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTGGTGAAGCGCCTCAAAATT	0.318													G|||	1	0.000264901	8e-04	0	3775	,	,		10461	0		0	False		,,,				2504	0				Ovarian(172;1807 2695 35459 49286)	dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											38	34	35					X																	41010296		2120	4244	6364	40895240	SO:0001819	synonymous_variant	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"Ubiquitin-specific peptidases"	12632	protein-coding gene	gene with protein product		300072	"ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)", "ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)", "ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.1749G>A	X.37:g.41010296G>A		703	0.14	1		58	0	0	40895240	326	26.91	120	O75550|Q8WWT3|Q8WX12	Silent	SNP	HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases	p.A583	ENST00000324545.8	37	c.1749	CCDS43930.1	X																																																																																			-	NULL		0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	protein_coding	OTTHUMT00000056250.4	G	NM_004652		40895240	1	no_errors	NM_001039590.2	genbank	human	reviewed	54_36p	silent	SNP	0.996	A	A	41010296	G	A	41010296	2	1	185	1	0	0	0	0	0	0	0	1	17087	1074	38	1		1	USP9X	23	41010296	Silent	SNP	G	TCGA-AB-3001-03A-01D-0739-09		41010296	114260264	11	2071											
AFF2	2334	genome.wustl.edu	37	X	147891443	147891443	+	Splice_Site	SNP	G	G	A	rs368578550		TCGA-AB-3001-03A-01D-0739-09	TCGA-AB-3001-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ab338ac-7a1e-4796-9464-d0e3218050ea	89734d2a-e63f-4255-8f4a-223187fa0daf	g.chrX:147891443G>A	ENST00000370460.2	+	4	1564	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	AFF2_ENST00000286437.5_Splice_Site_p.R32Q|AFF2_ENST00000370458.1_Splice_Site_p.R358Q|AFF2_ENST00000342251.3_Splice_Site_p.R358Q|AFF2_ENST00000370457.5_Splice_Site_p.R358Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	362					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.R362Q(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATCTTGCGGGTGAGTTTA	0.338																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X						G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,3834		0,0,1,1632,570	202	173	183		1073,1073,1085,1073,95,1085	5	1	X		183	0,6728		0,0,0,2428,1872	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	AFF2	NM_001169122.1,NM_001169123.1,NM_001169124.1,NM_001169125.1,NM_001170628.1,NM_002025.3	43,43,43,43,43,43	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	358/1277,358/1302,362/1277,358/1273,32/953,362/1312	147891443	1,10562	2203	4300	6503	147699135	SO:0001630	splice_region_variant	0			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"fragile X mental retardation 2"	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1086+1G>A	X.37:g.147891443G>A		1422	0.49	7		252	0	0	147699135	387	23.82	121	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	HMMPfam_AF-4	p.R362Q	ENST00000370460.2	37	c.1085	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616088	0.87359	2.61E-4	0.0	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458;ENST00000286437	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;0.02	5.87	5.01	0.66863	.	0.141084	0.45606	D	0.000353	T	0.74966	0.3786	L	0.39245	1.2	0.42575	D	0.993197	B;B;B;B;B;B;D	0.89917	0.04;0.032;0.032;0.032;0.032;0.04;1.0	B;B;B;B;B;B;D	0.81914	0.028;0.016;0.016;0.016;0.016;0.028;0.995	T	0.77351	-0.2620	10	0.66056	D	0.02	.	14.2101	0.65759	0.0731:0.0:0.9269:0.0	.	32;362;358;358;358;362;358	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;.;AFF2_HUMAN;.	Q	362;358;358;358;32	ENSP00000359489:R362Q;ENSP00000359486:R358Q;ENSP00000345459:R358Q;ENSP00000359487:R358Q;ENSP00000286437:R32Q	ENSP00000286437:R32Q	R	+	2	0	AFF2	147699135	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.877000	0.75562	1.247000	0.43917	-0.191000	0.12829	CGG	-	HMMPfam_AF-4		0.338	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	G	NM_002025	Missense_Mutation	147699135	1	no_errors	NM_002025.2	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	147891443	G	A	147891443	5	1	185	1	0	0	0	0	0	0	1	0	357	1130	39	1	1154	1	AFF2	23	147891443	Splice_Site	SNP	G	TCGA-AB-3001-03A-01D-0739-09	106881147	147891443	7379117	12	2072											
TP73	7161	genome.wustl.edu	37	1	3638739	3638739	+	Missense_Mutation	SNP	C	C	T	rs531840948		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr1:3638739C>T	ENST00000378295.4	+	5	739	c.584C>T	c.(583-585)cCc>cTc	p.P195L	TP73_ENST00000604479.1_Missense_Mutation_p.P195L|TP73_ENST00000354437.4_Missense_Mutation_p.P195L|TP73_ENST00000378285.1_Missense_Mutation_p.P146L|TP73_ENST00000603362.1_Missense_Mutation_p.P195L|TP73_ENST00000378290.4_Missense_Mutation_p.P124L|TP73_ENST00000378280.1_Missense_Mutation_p.P146L|TP73_ENST00000378288.4_Missense_Mutation_p.P146L|TP73_ENST00000604074.1_Missense_Mutation_p.P195L|TP73_ENST00000357733.3_Missense_Mutation_p.P195L|TP73_ENST00000346387.4_Missense_Mutation_p.P195L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	195	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P195L(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AAACGCTGCCCCAACCACGAG	0.662																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1											58	54	55					1																	3638739		2201	4298	6499	3628599	SO:0001583	missense	0			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.584C>T	1.37:g.3638739C>T	ENSP00000367545:p.Pro195Leu	473	1.45833333333333	7					3628599	272	43.2150313152401	207	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	HMMSmart_SM00454,PatternScan_P53,superfamily_p53-like transcription factors,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,superfamily_SAM/Pointed domain,HMMPfam_SAM_2,HMMPfam_P53	p.P195L	ENST00000378295.4	37	c.584	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484063	0.63962	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	3.12	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057743	0.64402	D	0.000001	D	0.99661	0.9874	M	0.66506	2.035	0.80722	D	1	P;P;P;P;P;P	0.47841	0.779;0.901;0.887;0.498;0.832;0.78	B;P;B;B;P;B	0.49853	0.131;0.624;0.33;0.105;0.593;0.261	D	0.96851	0.9625	10	0.54805	T	0.06	-26.5641	13.7221	0.62735	0.0:1.0:0.0:0.0	.	146;146;146;146;195;195	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	L	195;195;195;195;146;146;146;124	ENSP00000367545:P195L;ENSP00000346423:P195L;ENSP00000350366:P195L;ENSP00000340740:P195L;ENSP00000367537:P146L;ENSP00000367534:P146L;ENSP00000367529:P146L;ENSP00000367539:P124L	ENSP00000340740:P195L	P	+	2	0	TP73	3628599	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.400000	0.79949	1.762000	0.52044	0.491000	0.48974	CCC	-	superfamily_p53-like transcription factors,HMMPfam_P53		0.662	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	protein_coding	OTTHUMT00000001468.4	C	NM_005427		3628599	1	no_errors	NM_005427.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	3638739	C	T	3638739	3	4	186	1	0	0	0	0	1	0	0	0	16390	623	22	2	641	2	TP73	1	3638739	Missense_Mutation	SNP	C	TCGA-AB-3002-03A-01D-0739-09		3638739	245611882	1	2073											
GBP4	115361	genome.wustl.edu	37	1	89660980	89660980	+	Splice_Site	SNP	C	C	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr1:89660980C>A	ENST00000355754.6	-	3	460	c.363G>T	c.(361-363)aaG>aaT	p.K121N		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	121	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.K121N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCTGCCTTACCTTTTCTACAT	0.473																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											113	107	109					1																	89660980		2203	4300	6503	89433568	SO:0001630	splice_region_variant	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.363+1G>T	1.37:g.89660980C>A		572	0.174520069808028	1		35	0	0	89433568	650	1.36570561456753	9	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	HMMPfam_GBP_C,HMMPfam_GBP,superfamily_GBP,superfamily_SSF52540	p.K121N	ENST00000355754.6	37	c.363	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533481	0.64972	.	.	ENSG00000162654	ENST00000355754	T	0.78364	-1.17	5.29	4.38	0.52667	Guanylate-binding protein, N-terminal (1);	0.056969	0.64402	D	0.000002	T	0.74176	0.3682	M	0.88775	2.98	0.40062	D	0.975904	P	0.37330	0.59	B	0.39904	0.313	T	0.77694	-0.2492	9	.	.	.	.	11.4633	0.50223	0.0:0.9133:0.0:0.0867	.	121	Q96PP9	GBP4_HUMAN	N	121	ENSP00000359490:K121N	.	K	-	3	2	GBP4	89433568	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	4.187000	0.58344	1.469000	0.48083	0.591000	0.81541	AAG	-	HMMPfam_GBP,superfamily_SSF52540		0.473	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	protein_coding	OTTHUMT00000029409.1	C	NM_052941	Missense_Mutation	89433568	-1	no_errors	NM_052941.4	genbank	human	validated	54_36p	missense	SNP	1.000	A	A	89660980	C	A	89660980	5	1	186	1	0	0	0	0	0	0	1	0	6276	695	24	4	1595	4	GBP4	1	89660980	Splice_Site	SNP	C	TCGA-AB-3002-03A-01D-0739-09	86022241	89660980	159589641	2	2074											
ARHGEF2	9181	genome.wustl.edu	37	1	155922486	155922486	+	Silent	SNP	G	G	T	rs151138617		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr1:155922486G>T	ENST00000361247.4	-	15	2016	c.1917C>A	c.(1915-1917)ggC>ggA	p.G639G	ARHGEF2_ENST00000313667.4_Silent_p.G638G|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368316.1_Silent_p.G611G|ARHGEF2_ENST00000462460.2_Silent_p.G684G|ARHGEF2_ENST00000368315.4_Silent_p.G640G|ARHGEF2_ENST00000313695.7_Silent_p.G611G	NM_001162383.1|NM_001162384.1	NP_001155855.1|NP_001155856.1	Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	639					actin filament organization (GO:0007015)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular hyperosmotic response (GO:0071474)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to tumor necrosis factor (GO:0071356)|establishment of mitotic spindle orientation (GO:0000132)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of necroptotic process (GO:0060546)|negative regulation of neurogenesis (GO:0050768)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cell proliferation (GO:0042127)|regulation of Rho protein signal transduction (GO:0035023)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|Rac GTPase binding (GO:0048365)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G611G(3)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCGGAAAAGGCCCCTGGGCA	0.642																																					Melanoma(178;35 2768 6610 28839)	dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1						G	,,	1,4405	2.1+/-5.4	0,1,2202	80	76	78		1917,1914,1833	1.1	1	1	dbSNP_134	78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ARHGEF2	NM_001162383.1,NM_001162384.1,NM_004723.3	,,	0,1,6502	TT,TG,GG		0.0,0.0227,0.0077	,,	639/987,638/986,611/959	155922486	1,13005	2203	4300	6503	154189110	SO:0001819	synonymous_variant	0			AB014551	CCDS1125.1, CCDS53375.1, CCDS53376.1	1q21-q22	2013-01-10	2009-06-12		ENSG00000116584	ENSG00000116584		"Rho guanine nucleotide exchange factors", "Pleckstrin homology (PH) domain containing"	682	protein-coding gene	gene with protein product		607560	"rho/rac guanine nucleotide exchange factor (GEF) 2"			9857026, 9734811	Standard	NM_004723		Approved	LFP40, GEF-H1, KIAA0651, P40	uc001fmt.2	Q92974	OTTHUMG00000017464	ENST00000361247.4:c.1917C>A	1.37:g.155922486G>T		558	1.41	8		48	54.29	57	154189110	294	44.65	238	D3DVA6|O75142|Q15079|Q5VY92|Q8TDA3|Q8WUG4|Q9H023	Silent	SNP	HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_DBL homology domain (DH-domain),HMMPfam_PH,HMMSmart_SM00233,HMMPfam_C1_1,HMMSmart_SM00109,PatternScan_ZF_DAG_PE_1,superfamily_PH domain-like,superfamily_Cysteine-rich domain	p.G611	ENST00000361247.4	37	c.1833	CCDS53376.1	1																																																																																			-	NULL		0.642	ARHGEF2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF2	protein_coding	OTTHUMT00000046204.2	G	NM_004723		154189110	-1	no_errors	NM_004723.2	genbank	human	reviewed	54_36p	silent	SNP	0.971	T	T	155922486	G	T	155922486	2	4	186	1	0	0	0	0	0	0	0	1	903	1190	42	4		4	ARHGEF2	1	155922486	Silent	SNP	G	TCGA-AB-3002-03A-01D-0739-09	66261506	155922486	93328135	3	2075											
LGTN	1939	genome.wustl.edu	37	1	206772865	206772865	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr1:206772865T>C	ENST00000271764.2	-	10	1362	c.1154A>G	c.(1153-1155)tAc>tGc	p.Y385C	EIF2D_ENST00000472709.2_5'Flank|EIF2D_ENST00000367114.3_Missense_Mutation_p.Y261C	NM_006893.2	NP_008824.2	P41214	EIF2D_HUMAN	eukaryotic translation initiation factor 2D	385					formation of translation preinitiation complex (GO:0001731)|intracellular protein transport (GO:0006886)|IRES-dependent translational initiation (GO:0002192)|ribosome disassembly (GO:0032790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	receptor activity (GO:0004872)|translation initiation factor activity (GO:0003743)	p.Y385C(3)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGGGACACAGTAGAGGGGTTT	0.552																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1											81	90	87					1																	206772865		2203	4300	6503	204839488	SO:0001583	missense	0			BC001585	CCDS1465.1, CCDS55680.1	1q32.1	2014-05-06	2011-01-19	2011-01-19	ENSG00000143486	ENSG00000143486			6583	protein-coding gene	gene with protein product		613709				20566627	Standard	NM_001201478		Approved	LGTN	uc001heh.2	P41214	OTTHUMG00000184619	ENST00000271764.2:c.1154A>G	1.37:g.206772865T>C	ENSP00000271764:p.Tyr385Cys	539	2	11		47	51.55	50	204839488	335	47.51	305	Q5SY40|Q8IXV3|Q96DG3|Q96TG7|Q9NR27|Q9NSN0|Q9NV18|Q9NZ21	Missense_Mutation	SNP	HMMPfam_SUI1,superfamily_eIF1-like,HMMSmart_SM00359,superfamily_SWIB/MDM2 domain,superfamily_PUA domain-like	p.Y385C	ENST00000271764.2	37	c.1154	CCDS1465.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.165633	0.78339	.	.	ENSG00000143486	ENST00000367114;ENST00000271764	T;T	0.54279	0.58;1.12	5.87	5.87	0.94306	SWIB/MDM2 domain (1);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.64404	1.975	0.80722	D	1	D;P	0.89917	1.0;0.944	D;P	0.91635	0.999;0.635	T	0.70773	-0.4781	10	0.51188	T	0.08	-13.4437	15.1024	0.72292	0.0:0.0:0.0:1.0	.	261;385	P41214-2;P41214	.;EIF2D_HUMAN	C	261;385	ENSP00000356081:Y261C;ENSP00000271764:Y385C	ENSP00000271764:Y385C	Y	-	2	0	EIF2D	204839488	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.242000	0.73789	0.533000	0.62120	TAC	-	superfamily_SWIB/MDM2 domain		0.552	EIF2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGTN	protein_coding	OTTHUMT00000088475.1	T	NM_006893		204839488	-1	no_errors	NM_006893.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	206772865	T	C	206772865	3	2	186	1	0	0	0	0	1	0	0	0	8760	1638	57	3	624	3	LGTN	1	206772865	Missense_Mutation	SNP	T	TCGA-AB-3002-03A-01D-0739-09	50850379	206772865	42477756	4	2076											
DDX1	1653	genome.wustl.edu	37	2	15757366	15757366	+	Splice_Site	SNP	A	A	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr2:15757366A>G	ENST00000381341.2	+	16	1406		c.e16-1		DDX1_ENST00000233084.3_Splice_Site			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)	p.?(3)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GCTTTTTTTCAGGTAGATATA	0.343																																						dbGAP											3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	2											156	156	156					2																	15757366		2203	4300	6503	15674817	SO:0001630	splice_region_variant	0			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"DEAD-boxes"	2734	protein-coding gene	gene with protein product		601257	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1", "DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.1018-1A>G	2.37:g.15757366A>G		547	1.79533213644524	10		0	100	3	15674817	383	46.6573816155989	335	B4DME8|B4DPN6	Splice_Site	SNP	-	e15-2	ENST00000381341.2	37	c.1018-2	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	A	16.69	3.193050	0.58017	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	.	.	.	5.78	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1281	0.59366	0.8663:0.1337:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DDX1	15674817	1.000000	0.71417	0.961000	0.40146	0.824000	0.46624	9.019000	0.93662	1.001000	0.39076	0.482000	0.46254	.	-	-		0.343	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	protein_coding	OTTHUMT00000207141.2	A	NM_004939	Intron	15674817	1	no_errors	NM_004939.1	genbank	human	reviewed	54_36p	splice_site	SNP	0.994	G	G	15757366	A	G	15757366	5	3	186	1	0	0	0	0	0	0	1	0	4341	202	7	3	1074	3	DDX1	2	15757366	Splice_Site	SNP	A	TCGA-AB-3002-03A-01D-0739-09		15757366	227442007	5	2077											
ATG16L1	55054	genome.wustl.edu	37	2	234172658	234172658	+	Silent	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr2:234172658C>T	ENST00000392017.4	+	4	593	c.336C>T	c.(334-336)gaC>gaT	p.D112D	ATG16L1_ENST00000392020.4_Silent_p.D112D|ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392018.1_Silent_p.D112D	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	112					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)	p.D112D(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGGTGATTGACCTGAATAACC	0.443																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	2											125	127	126					2																	234172658		2203	4300	6503	233837397	SO:0001819	synonymous_variant	0			AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"WD repeat domain containing"	21498	protein-coding gene	gene with protein product		610767	"APG16 autophagy 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like (S. cerevisiae)", "ATG16 autophagy related 16-like 1 (S. cerevisiae)"	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.336C>T	2.37:g.234172658C>T		637	1.54559505409583	10		29	17.14	6	233837397	366	44.7963800904977	297	A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_ATG16,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.D112	ENST00000392017.4	37	c.336	CCDS2503.2	2																																																																																			-	superfamily_WD40 repeat-like,HMMPfam_ATG16		0.443	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG16L1	protein_coding	OTTHUMT00000257069.2	C	NM_017974		233837397	1	no_errors	NM_030803.3	genbank	human	validated	54_36p	silent	SNP	1.000	T	T	234172658	C	T	234172658	2	4	186	1	0	0	0	0	0	0	0	1	1091	506	18	2		2	ATG16L1	2	234172658	Silent	SNP	C	TCGA-AB-3002-03A-01D-0739-09	218415292	234172658	9026715	6	2078											
HJURP	55355	genome.wustl.edu	37	2	234750541	234750541	+	Silent	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr2:234750541G>A	ENST00000411486.2	-	8	950	c.885C>T	c.(883-885)tcC>tcT	p.S295S	HJURP_ENST00000432087.1_Silent_p.S241S|HJURP_ENST00000441687.1_Silent_p.S210S|HJURP_ENST00000434039.1_5'UTR	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	295			S -> C (in dbSNP:rs3732215). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17823411, ECO:0000269|Ref.2}.		cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)	p.S295S(3)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		GCCTCCTCCTGGAGTTCCAGT	0.498																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	2											115	106	109					2																	234750541		2203	4300	6503	234415280	SO:0001819	synonymous_variant	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.885C>T	2.37:g.234750541G>A		675	0.589101620029455	4		15	37.5	9	234415280	450	42.381562099872	331	A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Silent	SNP	NULL	p.S295	ENST00000411486.2	37	c.885	CCDS33406.1	2																																																																																			-	NULL		0.498	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	protein_coding	OTTHUMT00000130996.6	G	NM_018410		234415280	-1	no_errors	NM_018410.3	genbank	human	validated	54_36p	silent	SNP	0.000	A	A	234750541	G	A	234750541	2	1	186	1	0	0	0	0	0	0	0	1	7189	1335	47	2		2	HJURP	2	234750541	Silent	SNP	G	TCGA-AB-3002-03A-01D-0739-09	577883	234750541	8448832	7	2079											
FBN2	2201	genome.wustl.edu	37	5	127697501	127697501	+	Silent	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr5:127697501G>A	ENST00000508053.1	-	25	3443	c.2469C>T	c.(2467-2469)aaC>aaT	p.N823N	FBN2_ENST00000262464.4_Silent_p.N823N|FBN2_ENST00000508989.1_Silent_p.N790N			P35556	FBN2_HUMAN	fibrillin 2	823	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.N823N(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCACAATCCGTTATCACAAA	0.438																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)	5											193	166	175					5																	127697501		2203	4300	6503	127725400	SO:0001819	synonymous_variant	0			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"fibrillin 5"	612570	"congenital contractural arachnodactyly"	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2469C>T	5.37:g.127697501G>A		1154	0.773860705073087	9		2	0	0	127725400	640	43.7609841827768	498	B4DU01|Q59ES6	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_TB,superfamily_TB module/8-cys domain,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Growth factor receptor domain,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.N823	ENST00000508053.1	37	c.2469	CCDS34222.1	5																																																																																			-	HMMSmart_SM00179,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin		0.438	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	protein_coding	OTTHUMT00000371618.2	G	NM_001999		127725400	-1	no_errors	NM_001999.3	genbank	human	reviewed	54_36p	silent	SNP	0.992	A	A	127697501	G	A	127697501	2	1	186	1	0	0	0	0	0	0	0	1	5703	1136	40	1		1	FBN2	5	127697501	Silent	SNP	G	TCGA-AB-3002-03A-01D-0739-09		127697501	53217759	8	2080											
PCDHGC4	56098	genome.wustl.edu	37	5	140866094	140866094	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr5:140866094C>G	ENST00000306593.1	+	1	1354	c.1354C>G	c.(1354-1356)Cca>Gca	p.P452A	PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC5_ENST00000252087.1_5'Flank|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P452A(3)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGATAATCCACCCTCTTT	0.483																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	5											79	80	80					5																	140866094		2203	4300	6503	140846278	SO:0001583	missense	0			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"Cadherins / Protocadherins : Clustered"	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.1354C>G	5.37:g.140866094C>G	ENSP00000306918:p.Pro452Ala	930	1.58730158730159	15		12	52	13	140846278	540	40	360	Q495T2|Q9Y5C3	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.P452A	ENST00000306593.1	37	c.1354	CCDS4262.1	5	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.423569	0.01126	.	.	ENSG00000242419	ENST00000306593	T	0.59638	0.25	5.41	4.48	0.54585	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.31327	0.0793	N	0.03608	-0.345	0.29298	N	0.868898	B;B	0.29432	0.137;0.244	B;B	0.28139	0.058;0.086	T	0.03969	-1.0988	9	0.05833	T	0.94	.	14.6501	0.68792	0.0:0.7705:0.2295:0.0	.	452;452	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	A	452	ENSP00000306918:P452A	ENSP00000306918:P452A	P	+	1	0	PCDHGC4	140846278	0.000000	0.05858	1.000000	0.80357	0.895000	0.52256	-0.041000	0.12084	2.533000	0.85409	0.467000	0.42956	CCA	-	HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like		0.483	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC4	protein_coding	OTTHUMT00000251820.1	C	NM_018928		140846278	1	no_errors	NM_018928.2	genbank	human	reviewed	54_36p	missense	SNP	0.999	G	G	140866094	C	G	140866094	3	3	186	1	0	0	0	0	1	0	0	0	11570	855	30	4	1356	4	PCDHGC4	5	140866094	Missense_Mutation	SNP	C	TCGA-AB-3002-03A-01D-0739-09	13168593	140866094	40049166	9	2081											
DDX41	51428	genome.wustl.edu	37	5	176940353	176940353	+	Splice_Site	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr5:176940353C>T	ENST00000507955.1	-	11	1754		c.e11+1		DDX41_ENST00000506965.1_5'Flank|DOK3_ENST00000377112.4_5'Flank|DOK3_ENST00000501403.2_5'Flank|DOK3_ENST00000312943.6_5'Flank	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41						apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.?(2)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CACCTGCCCACCTGGATGACA	0.592																																						dbGAP											2	Unknown(2)	haematopoietic_and_lymphoid_tissue(2)	5											62	68	66					5																	176940353		2203	4300	6503	176872959	SO:0001630	splice_region_variant	0			AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"DEAD-boxes"	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.1230+1G>A	5.37:g.176940353C>T		675	0.442477876106195	3		8	27.27	3	176872959	556	21.1347517730496	149	B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Splice_Site	SNP	-	e11+1	ENST00000507955.1	37	c.1230+1	CCDS4427.1	5	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900968	0.72754	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	5.25	4.38	0.52667	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.153	0.65398	0.0:0.9279:0.0:0.0721	.	.	.	.	.	-1	.	.	.	-	.	.	DDX41	176872959	1.000000	0.71417	0.998000	0.56505	0.891000	0.51852	7.595000	0.82710	1.438000	0.47492	0.655000	0.94253	.	-	-		0.592	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX41	protein_coding	OTTHUMT00000253432.2	C	NM_016222	Intron	176872959	-1	no_errors	NM_016222.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	176940353	C	T	176940353	5	4	186	1	0	0	0	0	0	0	1	0	4361	521	18	2	665	2	DDX41	5	176940353	Splice_Site	SNP	C	TCGA-AB-3002-03A-01D-0739-09	36074259	176940353	3974907	10	2082											
EZR	7430	genome.wustl.edu	37	6	159188046	159188046	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr6:159188046T>C	ENST00000367075.3	-	14	1829	c.1661A>G	c.(1660-1662)cAc>cGc	p.H554R	MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Missense_Mutation_p.H522R|EZR_ENST00000337147.7_Missense_Mutation_p.H554R	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	554	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)	p.H554R(3)	EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GTTCTCGTTGTGGATGATGTC	0.557			T	ROS1	NSCLC																																	dbGAP		Dom	yes		6	6q25.3	7430	ezrin		E	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											257	214	229					6																	159188046		2203	4300	6503	159108034	SO:0001583	missense	0			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"A-kinase anchor proteins"	12691	protein-coding gene	gene with protein product	"cytovillin 2"	123900	"villin 2 (ezrin)"	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1661A>G	6.37:g.159188046T>C	ENSP00000356042:p.His554Arg	687	0.72	5		72	44.62	58	159108034	558	44.21	443	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	superfamily_Moesin,HMMPfam_ERM,HMMPfam_FERM_N,HMMPfam_FERM_C,PatternScan_FERM_1,PatternScan_FERM_2,HMMPfam_FERM_M,superfamily_FERM_3-hlx,HMMSmart_B41,superfamily_SSF50729,superfamily_SSF54236	p.H554R	ENST00000367075.3	37	c.1661	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858449	0.91433	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.85702	-2.02;-2.02;-2.02	5.37	5.37	0.77165	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	M	0.88450	2.955	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.78314	0.991;0.987	D	0.93879	0.7169	10	0.87932	D	0	.	15.3591	0.74457	0.0:0.0:0.0:1.0	.	522;554	E7EQR4;P15311	.;EZRI_HUMAN	R	554;554;522	ENSP00000338934:H554R;ENSP00000356042:H554R;ENSP00000376016:H522R	ENSP00000338934:H554R	H	-	2	0	EZR	159108034	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.834000	0.86773	2.022000	0.59522	0.459000	0.35465	CAC	-	superfamily_Moesin,HMMPfam_ERM		0.557	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	protein_coding	OTTHUMT00000042878.1	T	NM_003379		159108034	-1	no_errors	NM_003379.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	159188046	T	C	159188046	3	2	186	1	0	0	0	0	1	0	0	0	5335	1696	59	3	103	3	EZR	6	159188046	Missense_Mutation	SNP	T	TCGA-AB-3002-03A-01D-0739-09		159188046	11927021	11	2083											
RP1L1	94137	genome.wustl.edu	37	8	10469265	10469265	+	Silent	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr8:10469265G>A	ENST00000382483.3	-	4	2566	c.2343C>T	c.(2341-2343)tcC>tcT	p.S781S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	781					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.S781S(3)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGCAGGAGTCGGATGTGTGGG	0.667																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	8											54	61	58					8																	10469265		1954	4127	6081	10506675	SO:0001819	synonymous_variant	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.2343C>T	8.37:g.10469265G>A		338	1.16959064327485	4					10506675	187	43.8438438438438	146	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	HMMPfam_DCX,HMMPfam_S-antigen,superfamily_SSF89837	p.S781	ENST00000382483.3	37	c.2343	CCDS43708.1	8																																																																																			-	NULL		0.667	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	G			10506675	-1	no_errors	NM_178857.5	genbank	human	validated	54_36p	silent	SNP	0.026	A	A	10469265	G	A	10469265	2	1	186	1	0	0	0	0	0	0	0	1	13533	1103	39	1		1	RP1L1	8	10469265	Silent	SNP	G	TCGA-AB-3002-03A-01D-0739-09		10469265	135894757	12	2084											
RP1	6101	genome.wustl.edu	37	8	55537655	55537655	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr8:55537655G>A	ENST00000220676.1	+	4	1361	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	405					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.A405T(3)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGCAGTTTGGCAGAGGAGAT	0.443																																					Colon(91;1014 1389 7634 14542 40420)	dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											91	89	90					8																	55537655		2203	4300	6503	55700208	SO:0001583	missense	0			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1213G>A	8.37:g.55537655G>A	ENSP00000220676:p.Ala405Thr	688	1.57367668097282	11					55700208	489	43.4682080924855	376		Missense_Mutation	SNP	HMMPfam_DCX,HMMSmart_DCX,superfamily_SSF89837	p.A405T	ENST00000220676.1	37	c.1213	CCDS6160.1	8	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.885396	0.00532	.	.	ENSG00000104237	ENST00000220676	T	0.32272	1.46	5.15	-0.483	0.12075	.	0.829672	0.10790	N	0.633778	T	0.12092	0.0294	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31806	-0.9930	10	0.14252	T	0.57	.	1.6359	0.02742	0.3606:0.107:0.3766:0.1559	.	405	P56715	RP1_HUMAN	T	405	ENSP00000220676:A405T	ENSP00000220676:A405T	A	+	1	0	RP1	55700208	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.608000	0.05641	-0.155000	0.11098	-0.148000	0.13756	GCA	-	NULL		0.443	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	G	NM_006269		55700208	1	no_errors	ENST00000220676	ensembl	human	known	54_36p	missense	SNP	0.000	A	A	55537655	G	A	55537655	3	1	186	1	0	0	0	0	1	0	0	0	13532	1203	42	2	1223	2	RP1	8	55537655	Missense_Mutation	SNP	G	TCGA-AB-3002-03A-01D-0739-09	45068390	55537655	90826367	13	2085											
CNTLN	54875	genome.wustl.edu	37	9	17226283	17226283	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr9:17226283C>T	ENST00000380647.3	+	3	616	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	CNTLN_ENST00000380641.4_Nonsense_Mutation_p.Q178*|CNTLN_ENST00000262360.5_Nonsense_Mutation_p.Q178*|CNTLN_ENST00000425824.1_Nonsense_Mutation_p.Q178*			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	178					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q178*(3)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAATTTGAACAGGTTGGTGt	0.249																																						dbGAP											3	Substitution - Nonsense(3)	haematopoietic_and_lymphoid_tissue(3)	9											20	20	20					9																	17226283		1774	4029	5803	17216283	SO:0001587	stop_gained	0			AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"chromosome 9 open reading frame 101", "chromosome 9 open reading frame 39"	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.532C>T	9.37:g.17226283C>T	ENSP00000370021:p.Gln178*	386	1.53061224489796	6		6	60	9	17216283	257	46.7908902691511	226	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.Q178*	ENST00000380647.3	37	c.532	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886611	0.91814	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	.	.	.	5.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	16.4076	0.83691	0.1406:0.8594:0.0:0.0	.	.	.	.	X	178	.	ENSP00000262360:Q178X	Q	+	1	0	CNTLN	17216283	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.885000	0.63142	2.435000	0.82474	0.551000	0.68910	CAG	-	superfamily_Prefoldin		0.249	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	protein_coding	OTTHUMT00000051793.3	C	NM_017738		17216283	1	no_errors	NM_017738.1	genbank	human	validated	54_36p	nonsense	SNP	1.000	T	T	17226283	C	T	17226283	4	4	186	1	0	0	0	0	0	1	0	0	3639	479	17	2	542	2	CNTLN	9	17226283	Nonsense_Mutation	SNP	C	TCGA-AB-3002-03A-01D-0739-09		17226283	123987148	14	2086											
COL27A1	85301	genome.wustl.edu	37	9	117044566	117044566	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr9:117044566G>A	ENST00000356083.3	+	38	4118	c.3727G>A	c.(3727-3729)Gga>Aga	p.G1243R		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1243	Collagen-like 10.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G1243R(3)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGTCCTGAAGGAAAATCAGG	0.592																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	9											100	105	103					9																	117044566		2203	4300	6503	116084387	SO:0001583	missense	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"Collagens"	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3727G>A	9.37:g.117044566G>A	ENSP00000348385:p.Gly1243Arg	429	1.37931034482759	6					116084387	285	40.7484407484408	196	Q66K43|Q96JF7	Missense_Mutation	SNP	HMMPfam_COLFI,HMMSmart_SM00038,HMMSmart_SM00210,HMMPfam_Collagen,superfamily_Concanavalin A-like lectins/glucanases	p.G1243R	ENST00000356083.3	37	c.3727	CCDS6802.1	9	.	.	.	.	.	.	.	.	.	.	G	12.74	2.029945	0.35797	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.86562	-2.14	4.75	4.75	0.60458	.	.	.	.	.	D	0.95382	0.8501	H	0.95574	3.69	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96713	0.9527	9	0.87932	D	0	.	15.6094	0.76704	0.0:0.0:1.0:0.0	.	1243	Q8IZC6	CORA1_HUMAN	R	1243	ENSP00000348385:G1243R	ENSP00000348385:G1243R	G	+	1	0	COL27A1	116084387	1.000000	0.71417	0.998000	0.56505	0.114000	0.19823	6.629000	0.74267	2.345000	0.79718	0.655000	0.94253	GGA	-	HMMPfam_Collagen		0.592	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	protein_coding	OTTHUMT00000053763.1	G	NM_032888		116084387	1	no_errors	NM_032888.2	genbank	human	provisional	54_36p	missense	SNP	1.000	A	A	117044566	G	A	117044566	3	1	186	1	0	0	0	0	1	0	0	0	3685	1001	35	2	3877	2	COL27A1	9	117044566	Missense_Mutation	SNP	G	TCGA-AB-3002-03A-01D-0739-09	99818283	117044566	24168865	15	2087											
OR1J2	26740	genome.wustl.edu	37	9	125273138	125273138	+	Missense_Mutation	SNP	C	C	T	rs200778732		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr9:125273138C>T	ENST00000335302.5	+	1	58	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R20W(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCTCCCCATCCGGCCAGAGCA	0.567																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	9											172	159	163					9																	125273138		2203	4300	6503	124312959	SO:0001583	missense	0				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"GPCR / Class A : Olfactory receptors"	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.58C>T	9.37:g.125273138C>T	ENSP00000335575:p.Arg20Trp	891	0.89	8					124312959	608	42.4	449	A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.R20W	ENST00000335302.5	37	c.58	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196440	0.58126	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01092	5.35	4.93	-6.45	0.01914	.	1.657130	0.04637	U	0.404725	T	0.00875	0.0029	N	0.21583	0.68	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.48896	-0.8994	10	0.52906	T	0.07	.	2.8474	0.05547	0.4856:0.1934:0.1913:0.1297	.	20	Q8NGS2	OR1J2_HUMAN	W	20	ENSP00000335575:R20W	ENSP00000335575:R20W	R	+	1	2	OR1J2	124312959	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-3.485000	0.00455	-0.994000	0.03463	0.586000	0.80456	CGG	-	superfamily_Family A G protein-coupled receptor-like		0.567	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	protein_coding	OTTHUMT00000053932.1	C			124312959	1	no_errors	NM_054107.1	genbank	human	provisional	54_36p	missense	SNP	0.002	T	T	125273138	C	T	125273138	3	4	186	1	0	0	0	0	1	0	0	0	10960	643	23	1	60	1	OR1J2	9	125273138	Missense_Mutation	SNP	C	TCGA-AB-3002-03A-01D-0739-09	8228572	125273138	15940293	16	2088											
P2RY2	5029	genome.wustl.edu	37	11	72945596	72945596	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr11:72945596G>T	ENST00000311131.2	+	3	859	c.392G>T	c.(391-393)cGg>cTg	p.R131L	P2RY2_ENST00000393596.2_Missense_Mutation_p.R131L|P2RY2_ENST00000393597.2_Missense_Mutation_p.R131L	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	131					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.R131L(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	AGCGTGCACCGGTGTCTGGGC	0.667																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											86	81	83					11																	72945596		2200	4293	6493	72623244	SO:0001583	missense	0			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"Purinergic receptors", "GPCR / Class A : Purinergic receptors, P2Y"	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.392G>T	11.37:g.72945596G>T	ENSP00000310305:p.Arg131Leu	798	0.37	3		5	54.55	6	72623244	278	46.54	242	B2R9W3|Q96EM8	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.R131L	ENST00000311131.2	37	c.392	CCDS8219.1	11	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640644	0.87859	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	D;D;D	0.97161	-4.27;-4.27;-4.27	5.37	5.37	0.77165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99105	0.9692	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99198	1.0872	10	0.87932	D	0	.	18.0912	0.89476	0.0:0.0:1.0:0.0	.	131	P41231	P2RY2_HUMAN	L	131	ENSP00000377222:R131L;ENSP00000310305:R131L;ENSP00000377221:R131L	ENSP00000310305:R131L	R	+	2	0	P2RY2	72623244	1.000000	0.71417	0.994000	0.49952	0.648000	0.38561	9.745000	0.98856	2.521000	0.84997	0.655000	0.94253	CGG	-	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like		0.667	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY2	protein_coding	OTTHUMT00000397336.1	G	NM_176072		72623244	1	no_errors	NM_002564.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	72945596	G	T	72945596	3	4	186	1	0	0	0	0	1	0	0	0	11352	1116	39	4	394	4	P2RY2	11	72945596	Missense_Mutation	SNP	G	TCGA-AB-3002-03A-01D-0739-09		72945596	62060920	17	2089											
DRD2	1813	genome.wustl.edu	37	11	113283325	113283325	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr11:113283325G>A	ENST00000362072.3	-	7	1435	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F	DRD2_ENST00000544518.1_Missense_Mutation_p.S363F|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.S335F|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.S364F|DRD2_ENST00000355319.2_Missense_Mutation_p.S366F|DRD2_ENST00000538967.1_Missense_Mutation_p.S366F	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	364	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.S364F(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CTTCTGCTGGGAGAGCTTCCT	0.572																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											151	129	136					11																	113283325		2201	4296	6497	112788535	SO:0001583	missense	0			M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"GPCR / Class A : Dopamine receptors"	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.1091C>T	11.37:g.113283325G>A	ENSP00000354859:p.Ser364Phe	661	1.19581464872945	8					112788535	483	42.2248803827751	353	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.S364F	ENST00000362072.3	37	c.1091	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765048	0.69878	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.97	5.97	0.96955	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.69450	0.3112	M	0.86651	2.83	0.80722	D	1	D;D;D	0.69078	0.997;0.981;0.969	D;P;D	0.72338	0.977;0.817;0.921	T	0.65067	-0.6258	10	0.20519	T	0.43	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	363;335;364	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	F	366;335;364;363;364;366	ENSP00000347474:S366F;ENSP00000278597:S335F;ENSP00000354859:S364F;ENSP00000441068:S363F;ENSP00000442172:S364F;ENSP00000438215:S366F	ENSP00000278597:S335F	S	-	2	0	DRD2	112788535	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.837000	0.97791	0.655000	0.94253	TCC	-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.572	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795		112788535	-1	no_errors	NM_000795.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	113283325	G	A	113283325	3	1	186	1	0	0	0	0	1	0	0	0	4757	1174	41	2	248	2	DRD2	11	113283325	Missense_Mutation	SNP	G	TCGA-AB-3002-03A-01D-0739-09	40337729	113283325	21723191	18	2090											
DAZAP2	9802	genome.wustl.edu	37	12	51636172	51636172	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr12:51636172A>G	ENST00000412716.3	+	4	1053	c.437A>G	c.(436-438)aAc>aGc	p.N146S	DAZAP2_ENST00000551313.1_Missense_Mutation_p.N86S|DAZAP2_ENST00000449723.3_Missense_Mutation_p.N124S|DAZAP2_ENST00000425012.2_Intron|DAZAP2_ENST00000439799.2_Missense_Mutation_p.N64S|DAZAP2_ENST00000604900.1_Intron|DAZAP2_ENST00000549732.2_Missense_Mutation_p.N114S|DAZAP2_ENST00000551534.1_3'UTR|DAZAP2_ENST00000549555.1_Silent_p.Q120Q			Q15038	DAZP2_HUMAN	DAZ associated protein 2	146						cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)	p.N146S(3)		haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						CAGGGAGCCAACGTCCTCGTA	0.557																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	12											276	245	255					12																	51636172		2203	4300	6503	49922439	SO:0001583	missense	0			D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.437A>G	12.37:g.51636172A>G	ENSP00000394699:p.Asn146Ser	1029	0.48	5		202	42.94	152	49922439	505	45.35	419	A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	Missense_Mutation	SNP	NULL	p.N146S	ENST00000412716.3	37	c.437	CCDS8809.1	12	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460801	0.43736	.	.	ENSG00000183283	ENST00000412716;ENST00000439799;ENST00000549732;ENST00000449723;ENST00000551313	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	L	0.39397	1.21	0.53005	D	0.999968	D;P;B	0.62365	0.991;0.941;0.241	D;P;B	0.74348	0.983;0.874;0.096	T	0.53265	-0.8463	10	0.44086	T	0.13	0.0522	14.7937	0.69863	1.0:0.0:0.0:0.0	.	114;64;146	C9JP84;C9JA96;Q15038	.;.;DAZP2_HUMAN	S	146;64;114;124;86	ENSP00000394699:N146S;ENSP00000398804:N64S;ENSP00000446554:N114S;ENSP00000412812:N124S;ENSP00000447842:N86S	ENSP00000394699:N146S	N	+	2	0	DAZAP2	49922439	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.549000	0.73900	2.202000	0.70862	0.533000	0.62120	AAC	-	NULL		0.557	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	protein_coding	OTTHUMT00000405259.2	A	NM_014764		49922439	1	no_errors	NM_014764.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	51636172	A	G	51636172	3	3	186	1	0	0	0	0	1	0	0	0	4245	43	2	3	451	3	DAZAP2	12	51636172	Missense_Mutation	SNP	A	TCGA-AB-3002-03A-01D-0739-09		51636172	82215723	19	2091											
DCLK1	9201	genome.wustl.edu	37	13	36428695	36428695	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr13:36428695G>A	ENST00000360631.3	-	6	1187	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	DCLK1_ENST00000379893.1_Missense_Mutation_p.R19C|DCLK1_ENST00000460982.1_5'UTR|DCLK1_ENST00000255448.4_Missense_Mutation_p.R326C|DCLK1_ENST00000379892.4_Missense_Mutation_p.R326C			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	326	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)	p.R326C(4)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTGCCTGAGCGCGGAGTAGAG	0.473																																						dbGAP											4	Substitution - Missense(4)	haematopoietic_and_lymphoid_tissue(4)	13											115	105	108					13																	36428695		2203	4300	6503	35326695	SO:0001583	missense	0			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"doublecortin and CaM kinase-like 1"	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.976C>T	13.37:g.36428695G>A	ENSP00000353846:p.Arg326Cys	399	0	0		2	0	0	35326695	537	0.555555555555556	3	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	HMMSmart_S_TKc,HMMPfam_DCX,HMMSmart_DCX,PatternScan_PROTEIN_KINASE_ST,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,superfamily_SSF89837	p.R326C	ENST00000360631.3	37	c.976		13	.	.	.	.	.	.	.	.	.	.	G	34	5.329526	0.95733	.	.	ENSG00000133083	ENST00000399319;ENST00000255448;ENST00000360631;ENST00000379893;ENST00000539451;ENST00000379892	T;T;T;T	0.69040	-0.37;-0.37;-0.37;1.83	5.67	5.67	0.87782	.	0.052262	0.85682	D	0.000000	T	0.78654	0.4317	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.997	P;D;P	0.64042	0.888;0.921;0.888	T	0.78971	-0.1993	10	0.62326	D	0.03	.	19.7728	0.96373	0.0:0.0:1.0:0.0	.	19;326;19	O15075-4;O15075-2;O15075-3	.;.;.	C	18;326;326;19;326;326	ENSP00000255448:R326C;ENSP00000353846:R326C;ENSP00000369223:R19C;ENSP00000369222:R326C	ENSP00000255448:R326C	R	-	1	0	DCLK1	35326695	1.000000	0.71417	0.941000	0.38009	0.997000	0.91878	6.830000	0.75319	2.687000	0.91594	0.655000	0.94253	CGC	-	NULL		0.473	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	protein_coding	OTTHUMT00000044487.1	G	NM_004734		35326695	-1	no_errors	NM_004734.3	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	36428695	G	A	36428695	3	1	186	1	0	0	0	0	1	0	0	0	4291	1087	38	1	1265	1	DCLK1	13	36428695	Missense_Mutation	SNP	G	TCGA-AB-3002-03A-01D-0739-09		36428695	78741183	20	2092											
IDH2	3418	genome.wustl.edu	37	15	90631934	90631934	+	Missense_Mutation	SNP	C	C	A	rs121913502		TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr15:90631934C>A	ENST00000330062.3	-	4	532	c.419G>T	c.(418-420)cGg>cTg	p.R140L	IDH2_ENST00000540499.2_Missense_Mutation_p.R88L|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R10L	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	103	103					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>T	15.37:g.90631934C>A	ENSP00000331897:p.Arg140Leu	740	1.59574468085106	12		155	47.1	138	88432938	381	44.6220930232558	307	B2R6L6|B4DFL2|Q96GT3	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R140L	ENST00000330062.3	37	c.419	CCDS10359.1	15	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145092	0.57044	.	.	ENSG00000182054	ENST00000330062;ENST00000539790;ENST00000540499	D;D;D	0.87256	-2.23;-2.23;-2.23	5.67	4.75	0.60458	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.96833	3.89	0.52099	D	0.999946	D	0.67145	0.996	D	0.69479	0.964	D	0.96098	0.9067	10	0.87932	D	0	.	12.4459	0.55651	0.0:0.9189:0.0:0.0811	.	140	P48735	IDHP_HUMAN	L	140;10;88	ENSP00000331897:R140L;ENSP00000438457:R10L;ENSP00000446147:R88L	ENSP00000331897:R140L	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	A	A	90631934	C	A	90631934	3	1	186	1	0	0	0	0	1	0	0	0	7495	652	23	4	971	4	IDH2	15	90631934	Missense_Mutation	SNP	C	TCGA-AB-3002-03A-01D-0739-09		90631934	11899458	21	2093											
ITGAX	3687	genome.wustl.edu	37	16	31382998	31382998	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr16:31382998C>T	ENST00000268296.4	+	17	2174	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	ITGAX_ENST00000562522.1_Missense_Mutation_p.R685C	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	685					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|organ morphogenesis (GO:0009887)	cell surface (GO:0009986)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.R685C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGACCCTGGCCGCCTGAGTCC	0.602																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	16											66	64	65					16																	31382998		2197	4300	6497	31290499	SO:0001583	missense	0			BC038237	CCDS10711.1, CCDS67014.1	16p11.2	2010-03-23	2006-02-10		ENSG00000140678	ENSG00000140678		"CD molecules", "Complement system", "Integrins"	6152	protein-coding gene	gene with protein product		151510	"integrin, alpha X (antigen CD11C (p150), alpha polypeptide)"	CD11C		3284962, 2303426	Standard	NM_001286375		Approved	CD11c	uc002ebu.1	P20702	OTTHUMG00000132465	ENST00000268296.4:c.2053C>T	16.37:g.31382998C>T	ENSP00000268296:p.Arg685Cys	952	2.85	28		16	60.98	25	31290499	283	45.3	236	Q8IVA6	Missense_Mutation	SNP	HMMPfam_VWA,HMMSmart_VWA,HMMPfam_Integrin_alpha,HMMPfam_FG-GAP,HMMSmart_Int_alpha,HMMPfam_Integrin_alpha2,PatternScan_INTEGRIN_ALPHA,superfamily_SSF53300,superfamily_SSF69179,superfamily_SSF69318	p.R685C	ENST00000268296.4	37	c.2053	CCDS10711.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264674	0.80358	.	.	ENSG00000140678	ENST00000268296	T	0.52295	0.67	5.4	5.4	0.78164	Integrin alpha-2 (1);	.	.	.	.	T	0.70202	0.3197	M	0.81802	2.56	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	T	0.74012	-0.3801	9	0.87932	D	0	.	15.0395	0.71777	0.0:1.0:0.0:0.0	.	685	P20702	ITAX_HUMAN	C	685	ENSP00000268296:R685C	ENSP00000268296:R685C	R	+	1	0	ITGAX	31290499	1.000000	0.71417	0.990000	0.47175	0.725000	0.41563	2.437000	0.44828	2.662000	0.90505	0.655000	0.94253	CGC	-	HMMPfam_Integrin_alpha2,superfamily_SSF69179		0.602	ITGAX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAX	protein_coding	OTTHUMT00000255628.2	C	NM_000887		31290499	1	no_errors	NM_000887.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	31382998	C	T	31382998	3	4	186	1	0	0	0	0	1	0	0	0	7889	652	23	1	2119	1	ITGAX	16	31382998	Missense_Mutation	SNP	C	TCGA-AB-3002-03A-01D-0739-09		31382998	58971755	22	2094											
MYO1F	4542	genome.wustl.edu	37	19	8606789	8606789	+	Splice_Site	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr19:8606789C>T	ENST00000338257.8	-	15	1878		c.e15+1			NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF						defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)	p.?(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGACCACTCACTGCTCACTGG	0.617																																						dbGAP											3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	19											62	66	65					19																	8606789		2054	4202	6256	8512789	SO:0001630	splice_region_variant	0			X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"Myosins / Myosin superfamily : Class I"	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.1610+1G>A	19.37:g.8606789C>T		542	1.45454545454545	8		18	36.67	11	8512789	319	44.6180555555556	257	Q8WWN7	Splice_Site	SNP	-	e15+1	ENST00000338257.8	37	c.1610+1	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	19.29	3.799314	0.70567	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5171	0.84303	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYO1F	8512789	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.739000	0.84976	2.243000	0.73865	0.462000	0.41574	.	-	-		0.617	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	C		Intron	8512789	-1	no_errors	NM_012335.2	genbank	human	provisional	54_36p	splice_site	SNP	1.000	T	T	8606789	C	T	8606789	5	4	186	1	0	0	0	0	0	0	1	0	10073	579	20	2	1741	2	MYO1F	19	8606789	Splice_Site	SNP	C	TCGA-AB-3002-03A-01D-0739-09		8606789	50522194	23	2095											
ZNF260	339324	genome.wustl.edu	37	19	37005057	37005057	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr19:37005057A>G	ENST00000523638.1	-	3	2205	c.1084T>C	c.(1084-1086)Tgt>Cgt	p.C362R	ZNF260_ENST00000592282.1_Missense_Mutation_p.C362R|ZNF260_ENST00000593142.1_Missense_Mutation_p.C362R|ZNF260_ENST00000588993.1_Missense_Mutation_p.C362R	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	362					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C362R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CATTCATTACAACCATAGGGT	0.428																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											116	105	109					19																	37005057		2203	4300	6503	41696897	SO:0001583	missense	0			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"Zinc fingers, C2H2-type"	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.1084T>C	19.37:g.37005057A>G	ENSP00000429803:p.Cys362Arg	501	0	0		8	0	0	41696897	582	1.18845500848896	7	Q0VF43	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.C362R	ENST00000523638.1	37	c.1084	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286031	0.59867	.	.	ENSG00000254004	ENST00000523638	D	0.85258	-1.96	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94699	0.8290	H	0.97707	4.06	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.95999	0.8992	9	0.87932	D	0	.	12.7941	0.57551	1.0:0.0:0.0:0.0	.	362	Q3ZCT1	ZN260_HUMAN	R	362	ENSP00000429803:C362R	ENSP00000429803:C362R	C	-	1	0	ZNF260	41696897	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	6.867000	0.75511	1.900000	0.55004	0.459000	0.35465	TGT	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.428	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	protein_coding	OTTHUMT00000109564.2	A	NM_001012756		41696897	-1	no_errors	NM_001012756.1	genbank	human	validated	54_36p	missense	SNP	0.744	G	G	37005057	A	G	37005057	3	3	186	1	0	0	0	0	1	0	0	0	17799	130	5	3	158	3	ZNF260	19	37005057	Missense_Mutation	SNP	A	TCGA-AB-3002-03A-01D-0739-09	28398268	37005057	22123926	24	2096											
NCR1	9437	genome.wustl.edu	37	19	55418014	55418014	+	Silent	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr19:55418014C>T	ENST00000291890.4	+	3	242	c.204C>T	c.(202-204)gcC>gcT	p.A68A	NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Silent_p.A68A|NCR1_ENST00000598576.1_Silent_p.A56A|NCR1_ENST00000594765.1_Silent_p.A68A|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000338835.5_Silent_p.A68A	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	68	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.A68A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GCCTTTTTGCCGTGGACAGAC	0.493																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	19											68	70	69					19																	55418014		2203	4300	6503	60109826	SO:0001819	synonymous_variant	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	6731	protein-coding gene	gene with protein product		604530	"lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.204C>T	19.37:g.55418014C>T		723	0	0		1	0	0	60109826	821	1.20336943441637	10	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	HMMSmart_SM00409,superfamily_Immunoglobulin	p.A68	ENST00000291890.4	37	c.204	CCDS12911.1	19																																																																																			-	HMMSmart_SM00409,superfamily_Immunoglobulin		0.493	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	protein_coding	OTTHUMT00000465680.1	C			60109826	1	no_errors	NM_004829.1	genbank	human	validated	54_36p	silent	SNP	0.000	T	T	55418014	C	T	55418014	2	4	186	1	0	0	0	0	0	0	0	1	10237	639	23	1		1	NCR1	19	55418014	Silent	SNP	C	TCGA-AB-3002-03A-01D-0739-09	18412957	55418014	3710969	25	2097											
KCNQ2	3785	genome.wustl.edu	37	20	62044802	62044802	+	Splice_Site	SNP	C	C	T			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chr20:62044802C>T	ENST00000359125.2	-	15	1938		c.e15+1		KCNQ2_ENST00000354587.3_Intron|KCNQ2_ENST00000344462.4_Splice_Site|KCNQ2_ENST00000370224.1_Splice_Site|KCNQ2_ENST00000357249.2_Splice_Site|KCNQ2_ENST00000359689.1_Intron|KCNQ2_ENST00000360480.3_Splice_Site	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2						axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.?(3)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GGGGCTCTTGCCTGGACTGCA	0.637																																						dbGAP											3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	20											50	43	45					20																	62044802		2203	4300	6503	61515246	SO:0001630	splice_region_variant	0			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"Potassium channels", "Voltage-gated ion channels / Potassium channels"	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1763+1G>A	20.37:g.62044802C>T		251	3.46153846153846	9		0	0	0	61515246	132	46.9879518072289	117	O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Splice_Site	SNP	-	e15+1	ENST00000359125.2	37	c.1763+1	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	c	26.7	4.764966	0.90020	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2551	0.90017	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNQ2	61515246	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.660000	0.83776	2.323000	0.78572	0.556000	0.70494	.	-	-		0.637	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	protein_coding	OTTHUMT00000080353.1	C	NM_172109	Intron	61515246	-1	no_errors	NM_172107.4	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	62044802	C	T	62044802	5	4	186	1	0	0	0	0	0	0	1	0	8083	753	26	2	866	2	KCNQ2	20	62044802	Splice_Site	SNP	C	TCGA-AB-3002-03A-01D-0739-09		62044802	980718	26	2098											
RBMX	27316	genome.wustl.edu	37	X	135961574	135961574	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3002-03A-01D-0739-09	TCGA-AB-3002-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	320ebe6f-48bd-40f1-9be5-1401a3bff328	f0b052b2-f9c8-48b4-a333-936b3da6f164	g.chrX:135961574C>A	ENST00000320676.7	-	2	167	c.13G>T	c.(13-15)Gat>Tat	p.D5Y	RBMX_ENST00000562646.1_Missense_Mutation_p.D5Y|SNORD61_ENST00000384252.1_RNA|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.D5Y	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	5					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D5Y(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTGGGCGATCTGCTTCAACC	0.398																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	X											90	85	86					X																	135961574		2203	4300	6503	135789240	SO:0001583	missense	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"RNA binding motif (RRM) containing"	9910	protein-coding gene	gene with protein product	"heterogeneous nuclear ribonucleoprotein G"	300199	"RNA binding motif protein, X chromosome"			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.13G>T	X.37:g.135961574C>A	ENSP00000359645:p.Asp5Tyr	284	2.73972602739726	8		8	94.08	143	135789240	37	86.6425992779783	240	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,HMMSmart_SM00361,HMMPfam_RBM1CTR,superfamily_RNA-binding domain RBD	p.D5Y	ENST00000320676.7	37	c.13	CCDS14661.1	X	.	.	.	.	.	.	.	.	.	.	.	24.9	4.580960	0.86748	.	.	ENSG00000147274	ENST00000431446;ENST00000320676;ENST00000449161	T;T	0.80033	3.07;-1.33	4.66	4.66	0.58398	.	0.000000	0.85682	U	0.000000	D	0.89887	0.6845	M	0.80982	2.52	0.80722	D	1	D;P;D	0.89917	0.996;0.907;1.0	D;P;D	0.77004	0.943;0.837;0.989	D	0.91724	0.5391	10	0.87932	D	0	.	16.9027	0.86117	0.0:1.0:0.0:0.0	.	5;5;5	B4E3U4;P38159;Q8N8Y7	.;HNRPG_HUMAN;.	Y	5	ENSP00000411989:D5Y;ENSP00000359645:D5Y	ENSP00000359645:D5Y	D	-	1	0	RBMX	135789240	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.677000	0.84024	1.905000	0.55150	0.508000	0.49915	GAT	-	NULL		0.398	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	protein_coding	OTTHUMT00000058507.1	C	NM_002139		135789240	-1	no_errors	NM_002139.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	135961574	C	A	135961574	3	1	186	1	0	0	0	0	1	0	0	0	13151	913	32	4	1249	4	RBMX	23	135961574	Missense_Mutation	SNP	C	TCGA-AB-3002-03A-01D-0739-09		135961574	19308986	27	2099											
LRRC47	57470	genome.wustl.edu	37	1	3700618	3700618	+	Silent	SNP	G	G	A	rs74764187	byFrequency	TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr1:3700618G>A	ENST00000378251.1	-	4	1279	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	RP1-286D6.5_ENST00000607459.1_RNA|RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	418							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)	p.L418L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCGGCCTCCAGCTGCAGCTGC	0.662													G|||	35	0.00698882	0	0.0115	5008	,	,		14207	0.001		0.0239	False		,,,				2504	0.002					dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1						G		8,4398	12.9+/-30.5	0,8,2195	34	34	34		1252	3	1	1	dbSNP_133	34	128,8470	61.7+/-123.6	1,126,4172	no	coding-synonymous	LRRC47	NM_020710.2		1,134,6367	AA,AG,GG		1.4887,0.1816,1.0458		418/584	3700618	136,12868	2203	4299	6502	3690478	SO:0001819	synonymous_variant	0			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1252C>T	1.37:g.3700618G>A		345	0	0		22	40	18	3690478	59	53.12	68	Q9ULN5	Silent	SNP	HMMPfam_LRR_1,HMMSmart_LRR_TYP,HMMPfam_B3_4,superfamily_SSF52047	p.L418	ENST00000378251.1	37	c.1252	CCDS51.1	1																																																																																			-	HMMPfam_B3_4		0.662	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC47	protein_coding	OTTHUMT00000009744.1	G	NM_020710		3690478	-1	no_errors	NM_020710.2	genbank	human	validated	54_36p	silent	SNP	0.603	A	A	3700618	G	A	3700618	2	1	187	1	0	0	0	0	0	0	0	1	9004	962	34	2		2	LRRC47	1	3700618	Silent	SNP	G	TCGA-AB-3005-03A-01D-0739-09		3700618	245550003	1	2100											
NOTCH2NL	388677	genome.wustl.edu	37	1	145273366	145273366	+	Nonsense_Mutation	SNP	C	C	T	rs140871032	byFrequency	TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr1:145273366C>T	ENST00000369340.3	+	4	664	c.220C>T	c.(220-222)Cga>Tga	p.R74*	RP11-458D21.5_ENST00000468030.1_Nonsense_Mutation_p.R74*|NOTCH2NL_ENST00000362074.6_Nonsense_Mutation_p.R74*|NOTCH2NL_ENST00000344859.3_Nonsense_Mutation_p.R74*			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	74	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R74*(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTTTGTGTCTCGACCTTGCCT	0.547																																						dbGAP											2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	1						C	stop/ARG	30,4376	27.2+/-55.0	0,30,2173	503	457	473		220	2.8	0.8	1	dbSNP_134	473	104,8496	44.9+/-103.4	0,104,4196	no	stop-gained	NOTCH2NL	NM_203458.3		0,134,6369	TT,TC,CC		1.2093,0.6809,1.0303		74/237	145273366	134,12872	2203	4300	6503	143984723	SO:0001587	stop_gained	0				CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"Notch homolog 2 (Drosophila) N-terminal like"			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.220C>T	1.37:g.145273366C>T	ENSP00000358346:p.Arg74*	5403	0.09	5		66	18.52	15	143984723	3924	14.2	650	Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Nonsense_Mutation	SNP	PatternScan_ASX_HYDROXYL,HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF_CA,PatternScan_EGF_CA,superfamily_EGF/Laminin	p.R74*	ENST00000369340.3	37	c.220	CCDS909.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373173	0.82573	0.006809	0.012093	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	.	.	.	2.75	2.75	0.32379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	11.2552	0.49050	0.0:1.0:0.0:0.0	.	.	.	.	X	74	.	ENSP00000344557:R74X	R	+	1	2	NOTCH2NL	143984723	0.982000	0.34865	0.838000	0.33150	0.100000	0.18952	5.568000	0.67385	1.532000	0.49169	0.394000	0.25966	CGA	-	HMMSmart_SM00179,HMMPfam_EGF,HMMSmart_SM00181,superfamily_EGF/Laminin		0.547	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOTCH2NL	protein_coding	OTTHUMT00000038546.1	C	NM_203458		143984723	1	no_errors	NM_203458.3	genbank	human	validated	54_36p	nonsense	SNP	0.852	T	T	145273366	C	T	145273366	4	4	187	1	0	0	0	0	0	1	0	0	10549	876	31	1	226	1	NOTCH2NL	1	145273366	Nonsense_Mutation	SNP	C	TCGA-AB-3005-03A-01D-0739-09	141572748	145273366	103977255	2	2101											
ATP6V1G3	127124	genome.wustl.edu	37	1	198509740	198509740	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr1:198509740G>A	ENST00000367382.1	-	1	125	c.41C>T	c.(40-42)gCa>gTa	p.A14V	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.A14V|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.A14V|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.A14V|ATP6V1G3_ENST00000309309.7_Missense_Mutation_p.A14V			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	14					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)	p.A14V(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						CCGTTTTTCTGCCTGAAGAAG	0.483																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											212	187	195					1																	198509740		2203	4300	6503	196776363	SO:0001583	missense	0			AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"ATPases / V-type"	18265	protein-coding gene	gene with protein product			"ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3", "ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.41C>T	1.37:g.198509740G>A	ENSP00000356352:p.Ala14Val	1583	0.13	2					196776363	603	38.62	380	Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	HMMPfam_V-ATPase_G	p.A14V	ENST00000367382.1	37	c.41	CCDS1395.1	1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753104	0.89753	.	.	ENSG00000151418	ENST00000367382;ENST00000309309;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	M	0.87269	2.87	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.87917	0.2701	10	0.72032	D	0.01	-19.7136	17.8461	0.88730	0.0:0.0:1.0:0.0	.	14;14;14	Q96LB4-4;Q96LB4;Q96LB4-3	.;VATG3_HUMAN;.	V	14	ENSP00000356352:A14V;ENSP00000309574:A14V;ENSP00000356351:A14V;ENSP00000281087:A14V;ENSP00000417171:A14V	ENSP00000281087:A14V	A	-	2	0	ATP6V1G3	196776363	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	6.508000	0.73721	2.821000	0.97095	0.484000	0.47621	GCA	-	HMMPfam_V-ATPase_G		0.483	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1G3	protein_coding	OTTHUMT00000086559.1	G	NM_133326		196776363	-1	no_errors	NM_133262.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	198509740	G	A	198509740	3	1	187	1	0	0	0	0	1	0	0	0	1188	1319	46	2	377	2	ATP6V1G3	1	198509740	Missense_Mutation	SNP	G	TCGA-AB-3005-03A-01D-0739-09	53236374	198509740	50740881	3	2102											
PRR21	643905	genome.wustl.edu	37	2	240982243	240982243	+	Missense_Mutation	SNP	G	G	A	rs80033040	byFrequency	TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr2:240982243G>A	ENST00000408934.1	-	1	156	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	53	Pro-rich.							p.R53W(2)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						GTGAAGAGCCGTGGATGAAGG	0.582																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	2											121	107	112					2																	240982243		2203	4300	6503	240630916	SO:0001583	missense	0			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.157C>T	2.37:g.240982243G>A	ENSP00000386166:p.Arg53Trp	4899	0.06	3					240630916	4376	13.27	670		Missense_Mutation	SNP	NULL	p.R53W	ENST00000408934.1	37	c.157	CCDS33417.1	2	.	.	.	.	.	.	.	.	.	.	N	7.137	0.581093	0.13686	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.13657	2.57;2.57	1.19	-1.7	0.08159	.	.	.	.	.	T	0.05640	0.0148	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35101	-0.9802	9	0.56958	D	0.05	.	2.7336	0.05234	0.2267:0.299:0.4742:0.0	.	53	Q8WXC7	PRR21_HUMAN	W	53	ENSP00000386166:R53W;ENSP00000418240:R53W	ENSP00000386166:R53W	R	-	1	2	PRR21	240630916	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.428000	0.07339	-0.481000	0.04817	CGG	-	NULL		0.582	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC643905	protein_coding		G	NM_001080835		240630916	-1	no_errors	NM_001080835.1	genbank	human	predicted	54_36p	missense	SNP	0.003	A	A	240982243	G	A	240982243	3	1	187	1	0	0	0	0	1	0	0	0	12592	1144	40	1	1015	1	PRR21	2	240982243	Missense_Mutation	SNP	G	TCGA-AB-3005-03A-01D-0739-09		240982243	2217130	4	2103											
CELSR3	1951	genome.wustl.edu	37	3	48694471	48694471	+	Silent	SNP	C	C	T	rs145229058	byFrequency	TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr3:48694471C>T	ENST00000164024.4	-	2	4339	c.4059G>A	c.(4057-4059)caG>caA	p.Q1353Q	CELSR3_ENST00000544264.1_Silent_p.Q1353Q	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1353					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Q1353Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAACTGCTCCTGCAGCTCCT	0.682													C|||	8	0.00159744	0	0.0043	5008	,	,		16494	0		0.005	False		,,,				2504	0					dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3						C		5,4395	8.1+/-20.4	0,5,2195	42	44	43		4059	2.1	1	3	dbSNP_134	43	76,8518	44.9+/-103.4	1,74,4222	no	coding-synonymous	CELSR3	NM_001407.2		1,79,6417	TT,TC,CC		0.8843,0.1136,0.6234		1353/3313	48694471	81,12913	2200	4297	6497	48669475	SO:0001819	synonymous_variant	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"Cadherins / Major cadherins", "-", "GPCR / Class B : Orphans"	3230	protein-coding gene	gene with protein product	"flamingo homolog 1 (Drosophila)"	604264	"cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.4059G>A	3.37:g.48694471C>T		819	0.12	1		7	12.5	1	48669475	162	47.59	148	O75092	Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00282,HMMPfam_HRM,HMMSmart_SM00008,HMMSmart_SM00179,HMMPfam_Laminin_EGF,HMMSmart_SM00180,PatternScan_EGF_LAM_1,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_EGF,HMMSmart_SM00181,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_G_2,PatternScan_EGF_1,PatternScan_EGF_2,superfamily_Cadherin-like,PatternScan_G_PROTEIN_RECEP_F2_2,superfamily_EGF/Laminin	p.Q1353	ENST00000164024.4	37	c.4059	CCDS2775.1	3																																																																																			-	NULL		0.682	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	protein_coding	OTTHUMT00000257523.1	C	NM_001407		48669475	-1	no_errors	NM_001407.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	T	T	48694471	C	T	48694471	2	4	187	1	0	0	0	0	0	0	0	1	3223	680	24	2		2	CELSR3	3	48694471	Silent	SNP	C	TCGA-AB-3005-03A-01D-0739-09		48694471	149327959	5	2104											
PCDHGA3	56112	genome.wustl.edu	37	5	140724205	140724205	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr5:140724205G>A	ENST00000253812.6	+	1	605	c.605G>A	c.(604-606)cGt>cAt	p.R202H	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	202	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R202H(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGTGAGAAAAAA	0.537																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											50	53	52					5																	140724205		2141	4269	6410	140704389	SO:0001583	missense	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"Cadherins / Protocadherins : Clustered"	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.605G>A	5.37:g.140724205G>A	ENSP00000253812:p.Arg202His	1100	0.27	3					140704389	276	26.6	100	Q9Y5D4	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.R202H	ENST00000253812.6	37	c.605	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	18.00	3.525160	0.64747	.	.	ENSG00000254245	ENST00000253812	T	0.27104	1.69	5.65	5.65	0.86999	Cadherin (3);Cadherin-like (1);	0.000000	0.32401	U	0.006154	T	0.63046	0.2478	M	0.92833	3.35	0.38066	D	0.936225	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.967	T	0.72207	-0.4360	10	0.56958	D	0.05	.	19.7068	0.96076	0.0:0.0:1.0:0.0	.	202;202	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	H	202	ENSP00000253812:R202H	ENSP00000253812:R202H	R	+	2	0	PCDHGA3	140704389	0.998000	0.40836	0.959000	0.39883	0.326000	0.28443	7.837000	0.86796	2.824000	0.97209	0.655000	0.94253	CGT	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	protein_coding	OTTHUMT00000377017.1	G	NM_018916		140704389	1	no_errors	NM_018916.3	genbank	human	reviewed	54_36p	missense	SNP	0.968	A	A	140724205	G	A	140724205	3	1	187	1	0	0	0	0	1	0	0	0	11555	1145	40	1	607	1	PCDHGA3	5	140724205	Missense_Mutation	SNP	G	TCGA-AB-3005-03A-01D-0739-09		140724205	40191055	6	2105											
MDFI	4188	genome.wustl.edu	37	6	41621216	41621216	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr6:41621216C>A	ENST00000373050.4	+	4	648	c.461C>A	c.(460-462)cCc>cAc	p.P154H				Q99750	MDFI_HUMAN	MyoD family inhibitor	215					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P215H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TGCGACCTGCCCTGCGACCTG	0.662																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											114	101	105					6																	41621216		2203	4300	6503	41729194	SO:0001583	missense	0			U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"inhibitor of MyoD family a"	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.461C>A	6.37:g.41621216C>A	ENSP00000362141:p.Pro154His	1362	0.22	3					41729194	297	40	198		Missense_Mutation	SNP	PatternScan_TNFR_NGFR_1	p.P215H	ENST00000373050.4	37	c.644		6	.	.	.	.	.	.	.	.	.	.	C	24.0	4.486648	0.84854	.	.	ENSG00000112559	ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050	.	.	.	5.1	5.1	0.69264	.	0.123212	0.56097	D	0.000028	T	0.75759	0.3893	M	0.77313	2.365	0.42996	D	0.994508	D	0.89917	1.0	D	0.76071	0.987	T	0.77091	-0.2716	8	.	.	.	-15.0542	18.1318	0.89604	0.0:1.0:0.0:0.0	.	215	Q99750	MDFI_HUMAN	H	215;215;215;215;154	.	.	P	+	2	0	MDFI	41729194	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.894000	0.69806	2.371000	0.80710	0.555000	0.69702	CCC	-	NULL		0.662	MDFI-002	NOVEL	basic	protein_coding	MDFI	protein_coding	OTTHUMT00000040519.2	C	NM_005586		41729194	1	no_errors	NM_005586.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	41621216	C	A	41621216	3	1	187	1	0	0	0	0	1	0	0	0	9404	623	22	4	658	4	MDFI	6	41621216	Missense_Mutation	SNP	C	TCGA-AB-3005-03A-01D-0739-09		41621216	129493851	7	2106											
GRIK2	2898	genome.wustl.edu	37	6	102511871	102511871	+	Intron	SNP	C	C	T			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr6:102511871C>T	ENST00000421544.1	+	16	3052				GRIK2_ENST00000369134.4_Intron|GRIK2_ENST00000318991.6_Missense_Mutation_p.P866L|GRIK2_ENST00000413795.1_Missense_Mutation_p.P866L|GRIK2_ENST00000369137.3_Intron|GRIK2_ENST00000369138.1_Intron	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.P866L(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CCATACCATCCAGACACTGTT	0.289																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											72	70	71					6																	102511871		2201	4292	6493	102618564	SO:0001627	intron_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"Ligand-gated ion channels / Glutamate receptors, ionotropic", "Glutamate receptors"	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2563-4351C>T	6.37:g.102511871C>T		1077	0.09	1					102618564	88	42.58	66	A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	HMMPfam_Lig_chan,HMMSmart_PBPe,HMMPfam_ANF_receptor,HMMPfam_Lig_chan-Glu_bd,superfamily_SSF53822,superfamily_SSF53850	p.P866L	ENST00000421544.1	37	c.2597	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849266	0.32699	.	.	ENSG00000164418	ENST00000413795;ENST00000318991;ENST00000540076	T;T	0.12361	2.69;2.69	5.05	5.05	0.67936	.	.	.	.	.	T	0.09949	0.0244	N	0.08118	0	0.80722	D	1	D	0.57899	0.981	D	0.70016	0.967	T	0.24764	-1.0151	9	0.37606	T	0.19	.	11.9017	0.52687	0.0:0.8247:0.1753:0.0	.	866	Q13002-2	.	L	866;866;641	ENSP00000405596:P866L;ENSP00000313276:P866L	ENSP00000313276:P866L	P	+	2	0	GRIK2	102618564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.675000	0.25232	2.785000	0.95823	0.591000	0.81541	CCA	-	NULL		0.289	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	protein_coding	OTTHUMT00000043718.1	C			102618564	1	no_errors	NM_175768.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	102511871	C	T	102511871	1	4	187	0	1	0	0	0	0	0	0	0	6774	594	21	2		2	GRIK2	6	102511871	Intron	SNP	C	TCGA-AB-3005-03A-01D-0739-09	60890655	102511871	68603196	8	2107											
FNDC1	84624	genome.wustl.edu	37	6	159653543	159653543	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr6:159653543C>T	ENST00000297267.9	+	11	2199	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R604W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	667					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R667W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCCCAGCCCCGGCCAGCCCT	0.692																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											14	18	17					6																	159653543		1969	4107	6076	159573533	SO:0001583	missense	0			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"Fibronectin type III domain containing"	21184	protein-coding gene	gene with protein product		609991	"fibronectin type III domain containing 2"	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1999C>T	6.37:g.159653543C>T	ENSP00000297267:p.Arg667Trp	277	0.36	1					159573533	103	53.91	124	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	HMMPfam_fn3,HMMSmart_FN3,superfamily_FN_III-like	p.R667W	ENST00000297267.9	37	c.1999	CCDS47512.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.220696|2.220696	0.39201|0.39201	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000329629|ENST00000297267;ENST00000340366	T|T;T	0.03301|0.08896	3.98|3.04;3.86	4.64|4.64	0.387|0.387	0.16259|0.16259	.|.	.|1.268200	.|0.05190	.|N	.|0.502856	T|T	0.06690|0.06690	0.0171|0.0171	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;P	.|0.63703	.|0.917;0.762	T|T	0.45454|0.45454	-0.9260|-0.9260	7|10	0.72032|0.51188	D|T	0.01|0.08	-3.1622|-3.1622	11.4825|11.4825	0.50333|0.50333	0.618:0.382:0.0:0.0|0.618:0.382:0.0:0.0	.|.	.|604;667	.|Q4ZHG4-2;Q4ZHG4	.|.;FNDC1_HUMAN	L|W	562|667;604	ENSP00000333297:P562L|ENSP00000297267:R667W;ENSP00000342460:R604W	ENSP00000333297:P562L|ENSP00000297267:R667W	P|R	+|+	2|1	0|2	FNDC1|FNDC1	159573533|159573533	0.000000|0.000000	0.05858|0.05858	0.014000|0.014000	0.15608|0.15608	0.047000|0.047000	0.14425|0.14425	-0.071000|-0.071000	0.11505|0.11505	-0.273000|-0.273000	0.09246|0.09246	0.655000|0.655000	0.94253|0.94253	CCG|CGG	-	NULL		0.692	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159573533	1	no_errors	NM_032532.2	genbank	human	validated	54_36p	missense	SNP	0.002	T	T	159653543	C	T	159653543	3	4	187	1	0	0	0	0	1	0	0	0	5968	643	23	1	2041	1	FNDC1	6	159653543	Missense_Mutation	SNP	C	TCGA-AB-3005-03A-01D-0739-09	57141672	159653543	11461524	9	2108											
PARD3	56288	genome.wustl.edu	37	10	34400214	34400214	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr10:34400214G>T	ENST00000374789.3	-	25	4279	c.3954C>A	c.(3952-3954)gaC>gaA	p.D1318E	PARD3_ENST00000374794.3_Missense_Mutation_p.D1206E|PARD3_ENST00000545693.1_Missense_Mutation_p.D1302E|PARD3_ENST00000374788.3_Missense_Mutation_p.D1315E|PARD3_ENST00000545260.1_Missense_Mutation_p.D1228E|PARD3_ENST00000350537.4_Missense_Mutation_p.D1272E|PARD3_ENST00000374790.3_Missense_Mutation_p.D1258E|PARD3_ENST00000346874.4_Missense_Mutation_p.D1281E	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1318					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D1318E(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CGTAACTGGGGTCCTGGACTT	0.592																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	10											53	51	51					10																	34400214		2203	4300	6503	34440220	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"atypical PKC isotype-specific interacting protein", "par-3 family cell polarity regulator alpha", "protein phosphatase 1, regulatory subunit 118"	606745	"par-3 (partitioning defective 3, C.elegans) homolog", "par-3 partitioning defective 3 homolog (C. elegans)"			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.3954C>A	10.37:g.34400214G>T	ENSP00000363921:p.Asp1318Glu	581	0	0					34440220	169	43.48	130	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like	p.D1318E	ENST00000374789.3	37	c.3954	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077368	0.36662	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790	T;T;T;T;T;T;T;T	0.17854	2.31;2.25;2.39;2.39;2.31;2.26;2.26;2.32	5.69	3.83	0.44106	.	0.345695	0.32548	N	0.005954	T	0.21145	0.0509	N	0.14661	0.345	0.80722	D	1	B;D;D;D;D;D;B;B	0.69078	0.003;0.976;0.996;0.996;0.997;0.997;0.024;0.014	B;P;D;D;D;D;B;B	0.80764	0.009;0.576;0.987;0.987;0.991;0.994;0.034;0.015	T	0.03945	-1.0990	10	0.17369	T	0.5	.	11.9649	0.53029	0.1403:0.0:0.8597:0.0	.	1206;1228;1235;1272;1302;1281;1315;1318	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0	.;.;.;.;.;.;.;PARD3_HUMAN	E	1302;1228;1318;1315;1281;1206;1272;1258	ENSP00000443147:D1302E;ENSP00000440857:D1228E;ENSP00000363921:D1318E;ENSP00000363920:D1315E;ENSP00000340591:D1281E;ENSP00000363926:D1206E;ENSP00000311986:D1272E;ENSP00000363922:D1258E	ENSP00000340591:D1281E	D	-	3	2	PARD3	34440220	1.000000	0.71417	0.996000	0.52242	0.944000	0.59088	1.863000	0.39459	0.751000	0.32900	0.655000	0.94253	GAC	-	NULL		0.592	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	protein_coding	OTTHUMT00000047527.1	G	NM_019619		34440220	-1	no_errors	NM_019619.2	genbank	human	provisional	54_36p	missense	SNP	1.000	T	T	34400214	G	T	34400214	3	4	187	1	0	0	0	0	1	0	0	0	11443	1252	44	4	120	4	PARD3	10	34400214	Missense_Mutation	SNP	G	TCGA-AB-3005-03A-01D-0739-09		34400214	101134533	10	2109											
IGHMBP2	3508	genome.wustl.edu	37	11	68704310	68704310	+	Nonsense_Mutation	SNP	C	C	T	rs199839840		TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr11:68704310C>T	ENST00000255078.3	+	13	2473	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	788					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)	p.R788*(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGGGCCCCGCGACCCCGAGC	0.692																																						dbGAP											2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	11	GRCh37	CM034538	IGHMBP2	M		C	stop/ARG	0,4400		0,0,2200	35	35	35		2362	-0.3	0	11		35	1,8587	1.2+/-3.3	0,1,4293	yes	stop-gained	IGHMBP2	NM_002180.2		0,1,6493	TT,TC,CC		0.0116,0.0,0.0077		788/994	68704310	1,12987	2200	4294	6494	68460886	SO:0001587	stop_gained	0			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"Zinc fingers, AN1-type domain containing"	5542	protein-coding gene	gene with protein product	"cardiac transcription factor 1", "zinc finger, AN1-type domain 7"	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2362C>T	11.37:g.68704310C>T	ENSP00000255078:p.Arg788*	470	0	0		7	30	3	68460886	109	47.34	98	A0PJD2|Q00443|Q14177	Nonsense_Mutation	SNP	HMMSmart_SM00154,HMMPfam_R3H,HMMSmart_SM00393,HMMSmart_SM00382,HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_R3H domain	p.R788*	ENST00000255078.3	37	c.2362	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.365698	0.95900	0.0	1.16E-4	ENSG00000132740	ENST00000255078	.	.	.	3.01	-0.312	0.12758	.	2.825600	0.01480	N	0.016640	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	5.9226	0.19091	0.0:0.4566:0.4219:0.1216	.	.	.	.	X	788	.	ENSP00000255078:R788X	R	+	1	2	IGHMBP2	68460886	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.061000	0.03472	-0.157000	0.11059	0.306000	0.20318	CGA	-	NULL		0.692	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	protein_coding	OTTHUMT00000396862.1	C	NM_002180		68460886	1	no_errors	NM_002180.2	genbank	human	reviewed	54_36p	nonsense	SNP	0.000	T	T	68704310	C	T	68704310	4	4	187	1	0	0	0	0	0	1	0	0	7591	760	27	1	2412	1	IGHMBP2	11	68704310	Nonsense_Mutation	SNP	C	TCGA-AB-3005-03A-01D-0739-09		68704310	66302206	11	2110											
TBC1D4	9882	genome.wustl.edu	37	13	75930309	75930309	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr13:75930309C>T	ENST00000377636.3	-	4	1595	c.1249G>A	c.(1249-1251)Gta>Ata	p.V417I	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.V417I|TBC1D4_ENST00000431480.2_Missense_Mutation_p.V417I	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	417	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.V417I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACTGGAATACATAACAAATA	0.488																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	13											66	63	64					13																	75930309		1953	4153	6106	74828310	SO:0001583	missense	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"Akt substrate of 160 kDa"	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1249G>A	13.37:g.75930309C>T	ENSP00000366863:p.Val417Ile	3311	0.06	2		0	100	1	74828310	604	36.35	345	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	HMMPfam_TBC,HMMSmart_SM00164,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like	p.V417I	ENST00000377636.3	37	c.1249	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897358	0.91962	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	T;T;T	0.27104	1.69;1.69;1.69	6.07	6.07	0.98685	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.64402	D	0.000015	T	0.32102	0.0818	L	0.47716	1.5	0.80722	D	1	P;P;P	0.44044	0.675;0.825;0.718	B;B;B	0.44085	0.44;0.373;0.309	T	0.00514	-1.1695	10	0.30854	T	0.27	-28.7993	20.6593	0.99626	0.0:1.0:0.0:0.0	.	417;417;417	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	I	417	ENSP00000366863:V417I;ENSP00000395986:V417I;ENSP00000366852:V417I	ENSP00000366852:V417I	V	-	1	0	TBC1D4	74828310	1.000000	0.71417	0.973000	0.42090	0.931000	0.56810	6.034000	0.70933	2.885000	0.99019	0.655000	0.94253	GTA	-	HMMPfam_PID,HMMSmart_SM00462,superfamily_PH domain-like		0.488	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	protein_coding	OTTHUMT00000045283.1	C	NM_014832		74828310	-1	no_errors	NM_014832.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	75930309	C	T	75930309	3	4	187	1	0	0	0	0	1	0	0	0	15619	478	17	2	2719	2	TBC1D4	13	75930309	Missense_Mutation	SNP	C	TCGA-AB-3005-03A-01D-0739-09		75930309	39239569	12	2111											
SLC25A11	8402	genome.wustl.edu	37	17	4843185	4843185	+	Silent	SNP	G	G	C	rs141424464		TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr17:4843185G>C	ENST00000225665.7	-	1	361	c.21C>G	c.(19-21)gcC>gcG	p.A7A	SLC25A11_ENST00000544061.2_Silent_p.A7A|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	7					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)	p.A7A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						CGCCGGCCCCGGCACTCGCCG	0.721																																					Esophageal Squamous(144;1178 2388 18010 48797)	dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	17											13	15	14					17																	4843185		2127	4217	6344	4783930	SO:0001819	synonymous_variant	0			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"Solute carriers"	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.21C>G	17.37:g.4843185G>C		264	0.75	2		25	39.02	16	4783930	22	42.11	16	F5GY65|O75537|Q969P7	Silent	SNP	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr	p.A7	ENST00000225665.7	37	c.21	CCDS11059.1	17																																																																																			-	NULL		0.721	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A11	protein_coding	OTTHUMT00000216852.4	G	NM_003562		4783930	-1	no_errors	NM_003562.3	genbank	human	provisional	54_36p	silent	SNP	0.997	C	C	4843185	G	C	4843185	2	2	187	1	0	0	0	0	0	0	0	1	14473	1103	39	4		4	SLC25A11	17	4843185	Silent	SNP	G	TCGA-AB-3005-03A-01D-0739-09		4843185	76352025	13	2112											
CAPS	8498	genome.wustl.edu	37	19	5914448	5914448	+	IGR	SNP	C	C	G			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr19:5914448C>G	ENST00000340578.6	-	0	3233				AC104532.2_ENST00000588891.1_3'UTR|CAPS_ENST00000222125.5_Missense_Mutation_p.L11V|CAPS_ENST00000588776.1_Missense_Mutation_p.L97V|AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000452990.2_Missense_Mutation_p.L11V	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)	p.L11V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CATGGAGAAACTCCGGGCACA	0.682																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											54	56	55					19																	5914448		2203	4300	6503	5865448	SO:0001628	intergenic_variant	0			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914448C>G		255	0.77	2		8	38.46	5	5865448	72	32.71	35	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_efhand,superfamily_SSF47473	p.L11V	ENST00000340578.6	37	c.31	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227870	0.39399	.	.	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.55052	0.54;0.89	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000009	T	0.69151	0.3079	M	0.76574	2.34	0.39672	D	0.970768	D;B	0.60160	0.987;0.13	D;B	0.65987	0.94;0.097	T	0.70835	-0.4764	10	0.36615	T	0.2	-31.1574	14.6201	0.68579	0.0:1.0:0.0:0.0	.	144;11	Q8NF12;Q13938	.;CAYP1_HUMAN	V	144;11;11	ENSP00000222125:L11V;ENSP00000403263:L11V	ENSP00000222125:L11V	L	+	1	0	CAPS	5865448	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	2.933000	0.48948	2.307000	0.77673	0.561000	0.74099	CTC	-	superfamily_SSF47473		0.682	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAPS	protein_coding	OTTHUMT00000452304.1	C	NM_007322		5865448	1	no_errors	NM_004058.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	5914448	C	G	5914448	1	3	187	0	1	0	0	0	0	0	0	0	2637	565	20	4		4	CAPS	19	5914448	IGR	SNP	C	TCGA-AB-3005-03A-01D-0739-09		5914448	53214535	14	2113											
ELL	8178	genome.wustl.edu	37	19	18561476	18561476	+	Missense_Mutation	SNP	C	C	T	rs200447123	byFrequency	TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr19:18561476C>T	ENST00000262809.4	-	8	1347	c.1276G>A	c.(1276-1278)Ggc>Agc	p.G426S	ELL_ENST00000596124.3_Missense_Mutation_p.G293S	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	426					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)	p.G426S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGGGGCAGGCCGAGGCGCACA	0.682			T	MLL	AL								C|||	3	0.000599042	0.0015	0	5008	,	,		11970	0		0.001	False		,,,				2504	0					dbGAP		Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19						C	SER/GLY	2,4322		0,2,2160	17	10	13		1276	-1	0	19		13	7,8503		0,7,4248	no	missense	ELL	NM_006532.3	56	0,9,6408	TT,TC,CC		0.0823,0.0463,0.0701	benign	426/622	18561476	9,12825	2162	4255	6417	18422476	SO:0001583	missense	0			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"	23114	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 68"	600284	"chromosome 19 open reading frame 17"	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.1276G>A	19.37:g.18561476C>T	ENSP00000262809:p.Gly426Ser	90	0	0		7	22.22	2	18422476	20	51.22	21		Missense_Mutation	SNP	HMMPfam_Occludin_ELL,HMMPfam_ELL	p.G426S	ENST00000262809.4	37	c.1276	CCDS12380.1	19	.	.	.	.	.	.	.	.	.	.	C	3.151	-0.174165	0.06421	4.63E-4	8.23E-4	ENSG00000105656	ENST00000262809	T	0.20332	2.08	4.58	-0.991	0.10235	.	0.903408	0.09225	U	0.831419	T	0.06735	0.0172	N	0.03115	-0.41	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.39921	-0.9590	10	0.06236	T	0.91	-33.7384	5.7689	0.18241	0.0:0.4039:0.1822:0.4138	.	370;426	Q59HG4;P55199	.;ELL_HUMAN	S	426	ENSP00000262809:G426S	ENSP00000262809:G426S	G	-	1	0	ELL	18422476	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-1.182000	0.03082	-0.095000	0.12351	0.643000	0.83706	GGC	-	NULL		0.682	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	protein_coding	OTTHUMT00000466362.1	C	NM_006532		18422476	-1	no_errors	NM_006532.2	genbank	human	validated	54_36p	missense	SNP	0.270	T	T	18561476	C	T	18561476	3	4	187	1	0	0	0	0	1	0	0	0	5062	652	23	1	609	1	ELL	19	18561476	Missense_Mutation	SNP	C	TCGA-AB-3005-03A-01D-0739-09	12647028	18561476	40567507	15	2114											
SON	6651	genome.wustl.edu	37	21	34924607	34924607	+	Missense_Mutation	SNP	A	A	G	rs145573687		TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr21:34924607A>G	ENST00000356577.4	+	3	3545	c.3070A>G	c.(3070-3072)Atg>Gtg	p.M1024V	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.M1024V|SON_ENST00000300278.4_Missense_Mutation_p.M1024V|SON_ENST00000290239.6_Missense_Mutation_p.M1024V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1024	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.M1024V(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGAGCGGTCTATGATGTCCCC	0.493																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	21						A	VAL/MET,VAL/MET	1,4405	2.1+/-5.4	0,1,2202	130	112	118		3070,3070	6.1	1	21	dbSNP_134	118	0,8600		0,0,4300	no	missense,missense	SON	NM_032195.1,NM_138927.1	21,21	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	1024/2304,1024/2427	34924607	1,13005	2203	4300	6503	33846477	SO:0001583	missense	0			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"G patch domain containing"	11183	protein-coding gene	gene with protein product	"NRE-binding protein", "negative regulatory element-binding protein", "Bax antagonist selected in Saccharomyces 1"	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3070A>G	21.37:g.34924607A>G	ENSP00000348984:p.Met1024Val	1197	0.17	2		149	47.72	136	33846477	315	43.04	238	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	HMMPfam_G-patch,HMMSmart_SM00443,HMMPfam_dsrm,superfamily_dsRNA-binding domain-like	p.M1024V	ENST00000356577.4	37	c.3070	CCDS13629.1	21	.	.	.	.	.	.	.	.	.	.	A	15.68	2.906102	0.52333	2.27E-4	0.0	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.16073	2.52;2.51;2.51;2.37	6.05	6.05	0.98169	.	0.000000	0.64402	D	0.000003	T	0.36193	0.0958	M	0.68593	2.085	0.33622	D	0.604945	P;P;D;P;D	0.57257	0.934;0.891;0.979;0.934;0.963	D;P;P;D;D	0.66351	0.943;0.877;0.801;0.943;0.915	T	0.42982	-0.9419	10	0.15499	T	0.54	.	14.5452	0.68024	1.0:0.0:0.0:0.0	.	1024;1024;705;1024;1024	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	V	1024	ENSP00000348984:M1024V;ENSP00000290239:M1024V;ENSP00000300278:M1024V;ENSP00000371095:M1024V	ENSP00000290239:M1024V	M	+	1	0	SON	33846477	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.659000	0.61504	2.320000	0.78422	0.528000	0.53228	ATG	-	NULL		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	protein_coding	OTTHUMT00000140978.2	A	NM_138927		33846477	1	no_errors	NM_138927.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	G	G	34924607	A	G	34924607	3	3	187	1	0	0	0	0	1	0	0	0	14926	449	16	3	3080	3	SON	21	34924607	Missense_Mutation	SNP	A	TCGA-AB-3005-03A-01D-0739-09		34924607	13205288	16	2115											
GCAT	23464	genome.wustl.edu	37	22	38209532	38209532	+	Silent	SNP	C	C	T	rs142027407		TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chr22:38209532C>T	ENST00000248924.6	+	4	548	c.492C>T	c.(490-492)gaC>gaT	p.D164D	GCAT_ENST00000323205.6_Silent_p.D190D	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	164					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)	p.D164D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CCATCATCGACGGCATCCGGC	0.637																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	22						C	,	1,4405	2.1+/-5.4	0,1,2202	45	37	40		570,492	-5.6	0.9	22	dbSNP_134	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GCAT	NM_001171690.1,NM_014291.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	190/446,164/420	38209532	1,13005	2203	4300	6503	36539478	SO:0001819	synonymous_variant	0			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"2-amino-3-ketobutyrate coenzyme A ligase"	607422	"glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.492C>T	22.37:g.38209532C>T		779	0	0		10	41.18	7	36539478	180	39.39	117	E2QC23|Q6ZWF1|Q96CA9	Silent	SNP	PatternScan_AA_TRANSFER_CLASS_2,HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major	p.D164	ENST00000248924.6	37	c.492	CCDS13957.1	22	.	.	.	.	.	.	.	.	.	.	C	9.893	1.204867	0.22205	2.27E-4	0.0	ENSG00000100116	ENST00000451984	.	.	.	5.55	-5.63	0.02474	.	.	.	.	.	T	0.63402	0.2508	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64339	-0.6431	4	.	.	.	-14.2408	15.6097	0.76707	0.0:0.5893:0.0:0.4107	.	.	.	.	M	211	.	.	T	+	2	0	GCAT	36539478	0.000000	0.05858	0.870000	0.34147	0.973000	0.67179	-2.503000	0.00965	-1.381000	0.02112	-0.768000	0.03414	ACG	-	HMMPfam_Aminotran_1_2,superfamily_PyrdxlP-dep_Trfase_major		0.637	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	protein_coding	OTTHUMT00000319506.1	C	NM_014291.2		36539478	1	no_errors	NM_014291.2	genbank	human	reviewed	54_36p	silent	SNP	0.999	T	T	38209532	C	T	38209532	2	4	187	1	0	0	0	0	0	0	0	1	6284	535	19	1		1	GCAT	22	38209532	Silent	SNP	C	TCGA-AB-3005-03A-01D-0739-09		38209532	13095034	17	2116											
NRK	203447	genome.wustl.edu	37	X	105178382	105178382	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3005-03A-01D-0739-09	TCGA-AB-3005-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	85335b80-6d61-4344-8ab3-1cf4be2ee53f	f02e1039-61d1-460f-a731-91d178483835	g.chrX:105178382T>C	ENST00000243300.9	+	20	3748	c.3445T>C	c.(3445-3447)Tct>Cct	p.S1149P	NRK_ENST00000428173.2_Missense_Mutation_p.S1150P	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1149					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.S1150P(1)|p.S1149P(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CAATCACTCATCTCCTTCCAA	0.428										HNSCC(51;0.14)																												dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	X											163	151	155					X																	105178382		1982	4150	6132	105065038	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3445T>C	X.37:g.105178382T>C	ENSP00000434830:p.Ser1149Pro	776	0.13	1					105065038	425	13.24	65	Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	HMMPfam_CNH,HMMSmart_SM00036,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_p53-like transcription factors,superfamily_Protein kinase-like (PK-like),PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase	p.S1150P	ENST00000243300.9	37	c.3448		X	.	.	.	.	.	.	.	.	.	.	T	13.00	2.107012	0.37145	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.79033	-1.22;-1.23	5.08	3.94	0.45596	.	0.290613	0.25275	N	0.031845	T	0.63604	0.2525	L	0.27053	0.805	0.58432	D	0.999997	B;B	0.33318	0.408;0.057	B;B	0.35727	0.209;0.02	T	0.64317	-0.6436	10	0.52906	T	0.07	.	5.7176	0.17968	0.0:0.1168:0.0:0.8832	.	817;1149	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	P	1149;1150	ENSP00000434830:S1149P;ENSP00000438378:S1150P	ENSP00000434830:S1149P	S	+	1	0	NRK	105065038	0.626000	0.27120	0.716000	0.30569	0.041000	0.13682	1.248000	0.32827	1.948000	0.56530	0.486000	0.48141	TCT	-	NULL		0.428	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	protein_coding	OTTHUMT00000106480.6	T	NM_198465		105065038	1	no_errors	ENST00000243300	ensembl	human	known	54_36p	missense	SNP	0.982	C	C	105178382	T	C	105178382	3	2	187	1	0	0	0	0	1	0	0	0	10655	1435	50	3	3523	3	NRK	23	105178382	Missense_Mutation	SNP	T	TCGA-AB-3005-03A-01D-0739-09		105178382	50092178	18	2117											
ZNF687	57592	genome.wustl.edu	37	1	151259855	151259855	+	Missense_Mutation	SNP	C	C	G	rs199776443		TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr1:151259855C>G	ENST00000368879.2	+	2	1186	c.1088C>G	c.(1087-1089)gCc>gGc	p.A363G		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A363G(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGAGGGGGCCTTCTTGGCT	0.552																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											66	60	62					1																	151259855		2203	4300	6503	149526479	SO:0001583	missense	0				CCDS992.1	1q21.2	2008-05-02			ENSG00000143373	ENSG00000143373			29277	protein-coding gene	gene with protein product		610568				10718198	Standard	NM_020832		Approved	KIAA1441	uc001exq.3	Q8N1G0	OTTHUMG00000012347	ENST00000368879.2:c.1088C>G	1.37:g.151259855C>G	ENSP00000357874:p.Ala363Gly	235	4.08	10		31	53.03	35	149526479	231	43.1	175	D3DV17|Q68DQ8|Q9H937|Q9P2A7	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A363G	ENST00000368879.2	37	c.1088		1	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241292	0.22711	.	.	ENSG00000143373	ENST00000336715;ENST00000324048;ENST00000368879	T;T;T	0.00873	5.59;5.59;5.93	5.17	4.25	0.50352	.	0.795267	0.10193	N	0.704364	T	0.00271	0.0008	N	0.13098	0.295	0.27372	N	0.955673	B;B;B	0.09022	0.002;0.0;0.0	B;B;B	0.11329	0.006;0.0;0.003	T	0.38779	-0.9645	9	.	.	.	.	8.0447	0.30542	0.2778:0.5635:0.1587:0.0	.	363;363;363	Q8N1G0-2;Q8N1G0;F8WCX2	.;ZN687_HUMAN;.	G	363	ENSP00000336620:A363G;ENSP00000319829:A363G;ENSP00000357874:A363G	.	A	+	2	0	ZNF687	149526479	0.001000	0.12720	0.903000	0.35520	0.945000	0.59286	1.085000	0.30840	1.411000	0.46957	0.561000	0.74099	GCC	-	NULL		0.552	ZNF687-201	KNOWN	basic	protein_coding	ZNF687	protein_coding		C	NM_020832		149526479	1	no_errors	NM_020832.1	genbank	human	provisional	54_36p	missense	SNP	0.478	G	G	151259855	C	G	151259855	3	3	188	1	0	0	0	0	1	0	0	0	18089	739	26	4	1090	4	ZNF687	1	151259855	Missense_Mutation	SNP	C	TCGA-AB-3006-03A-01D-0739-09		151259855	97990766	1	2118											
DDR2	4921	genome.wustl.edu	37	1	162725552	162725552	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr1:162725552G>A	ENST00000367922.3	+	8	1102	c.664G>A	c.(664-666)Gga>Aga	p.G222R	DDR2_ENST00000367921.3_Missense_Mutation_p.G222R	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	222					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G222R(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TGGAGCTGTTGGATACAGGTA	0.393																																					NSCLC(161;314 2006 8283 19651 23192)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	1											121	118	119					1																	162725552		2203	4300	6503	160992176	SO:0001583	missense	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"discoidin domain receptor family, member 2"	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.664G>A	1.37:g.162725552G>A	ENSP00000356899:p.Gly222Arg	283	1.74	5					160992176	198	36.13	112	Q7Z730	Missense_Mutation	SNP	HMMPfam_F5_F8_type_C,HMMSmart_FA58C,PatternScan_FA58C_1,PatternScan_FA58C_2,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_II,PatternScan_PROTEIN_KINASE_TYR,superfamily_Gal_bind_like,superfamily_Kinase_like	p.G222R	ENST00000367922.3	37	c.664	CCDS1241.1	1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571558	0.65765	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.21361	2.01;2.01	5.81	5.81	0.92471	.	0.217067	0.48286	D	0.000187	T	0.14399	0.0348	L	0.54323	1.7	0.36390	D	0.862434	B	0.02656	0.0	B	0.01281	0.0	T	0.01972	-1.1237	9	0.44086	T	0.13	.	18.6534	0.91439	0.0:0.0:1.0:0.0	.	222	Q16832	DDR2_HUMAN	R	222	ENSP00000356899:G222R;ENSP00000356898:G222R	ENSP00000356898:G222R	G	+	1	0	DDR2	160992176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.789000	0.69029	2.741000	0.93983	0.650000	0.86243	GGA	-	NULL		0.393	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	G	NM_006182		160992176	1	no_errors	NM_001014796.1	genbank	human	reviewed	54_36p	missense	SNP	0.972	A	A	162725552	G	A	162725552	3	1	188	1	0	0	0	0	1	0	0	0	4337	1349	47	2	682	2	DDR2	1	162725552	Missense_Mutation	SNP	G	TCGA-AB-3006-03A-01D-0739-09	11465697	162725552	86525069	2	2119											
CAPG	822	genome.wustl.edu	37	2	85628972	85628972	+	Silent	SNP	C	C	G	rs138976851	byFrequency	TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr2:85628972C>G	ENST00000409921.1	-	3	198	c.132G>C	c.(130-132)tcG>tcC	p.S44S	CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000409670.1_Silent_p.S44S|CAPG_ENST00000409724.1_Silent_p.S44S|CAPG_ENST00000263867.4_Silent_p.S44S			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.S44S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGGAGTCCCCCGAGAAGAAGA	0.607																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											116	113	114					2																	85628972		2203	4300	6503	85482483	SO:0001819	synonymous_variant	0			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"macrophage capping protein"	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.132G>C	2.37:g.85628972C>G		246	5.02	13		3	80	12	85482483	171	40	114	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins	p.S44	ENST00000409921.1	37	c.132	CCDS58715.1	2																																																																																			-	HMMSmart_SM00262,HMMPfam_Gelsolin,superfamily_Actin depolymerizing proteins		0.607	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	protein_coding	OTTHUMT00000329383.1	C	NM_001747		85482483	-1	no_errors	NM_001747.2	genbank	human	reviewed	54_36p	silent	SNP	0.472	G	G	85628972	C	G	85628972	2	3	188	1	0	0	0	0	0	0	0	1	2621	639	23	4		4	CAPG	2	85628972	Silent	SNP	C	TCGA-AB-3006-03A-01D-0739-09		85628972	157570401	3	2120											
SULT1C2	6819	genome.wustl.edu	37	2	108917366	108917366	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr2:108917366C>T	ENST00000437390.2	+	4	569	c.392C>T	c.(391-393)cCg>cTg	p.P131L	SULT1C2_ENST00000326853.5_Missense_Mutation_p.P128L|SULT1C2_ENST00000251481.6_Missense_Mutation_p.P117L|SULT1C2_ENST00000409880.1_Intron			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	123					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)	p.P117L(1)|p.P128L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CTGCTGCCACCGTCTTTCTGG	0.488																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	2											152	166	161					2																	108917366		2203	4300	6503	108283798	SO:0001583	missense	0			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"Sulfotransferases, cytosolic"	11456	protein-coding gene	gene with protein product		602385	"sulfotransferase family, cytosolic, 1C, member 1"	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.392C>T	2.37:g.108917366C>T	ENSP00000399651:p.Pro131Leu	334	3.74	13		3	57.14	4	108283798	290	38.03	178	Q069I8|Q08AS5|Q53S63	Missense_Mutation	SNP	HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.P128L	ENST00000437390.2	37	c.383		2	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060934	0.36373	.	.	ENSG00000198203	ENST00000251481;ENST00000326853;ENST00000437390	D;D;D	0.82344	-1.6;-1.6;-1.6	4.31	3.42	0.39159	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000007	D	0.85635	0.5742	M	0.71920	2.185	0.33269	D	0.560782	P;D;P;P	0.65815	0.916;0.995;0.916;0.939	B;P;B;B	0.51657	0.222;0.676;0.222;0.213	D	0.89839	0.4001	10	0.66056	D	0.02	.	12.5731	0.56349	0.1674:0.8326:0.0:0.0	.	131;32;117;128	B4DLP0;B4DPE8;O00338;O00338-2	.;.;ST1C2_HUMAN;.	L	117;128;131	ENSP00000251481:P117L;ENSP00000319622:P128L;ENSP00000399651:P131L	ENSP00000251481:P117L	P	+	2	0	SULT1C2	108283798	0.000000	0.05858	0.263000	0.24496	0.772000	0.43724	0.468000	0.22051	0.995000	0.38917	0.591000	0.81541	CCG	-	HMMPfam_Sulfotransfer_1,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.488	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	SULT1C2	protein_coding	OTTHUMT00000329969.2	C	NM_176825		108283798	1	no_errors	NM_176825.3	genbank	human	reviewed	54_36p	missense	SNP	0.728	T	T	108917366	C	T	108917366	3	4	188	1	0	0	0	0	1	0	0	0	15374	652	23	1	459	1	SULT1C2	2	108917366	Missense_Mutation	SNP	C	TCGA-AB-3006-03A-01D-0739-09	23288394	108917366	134282007	4	2121											
PTPRN	5798	genome.wustl.edu	37	2	220166388	220166388	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr2:220166388G>A	ENST00000295718.2	-	7	1288	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	PTPRN_ENST00000423636.2_Missense_Mutation_p.R260C|PTPRN_ENST00000409251.3_Missense_Mutation_p.R350C|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	350					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R350C(2)		breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GTCAGCTGACGCAGCTCTACC	0.622																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|lung(1)	2											39	40	39					2																	220166388		2203	4300	6503	219874632	SO:0001583	missense	0				CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.1048C>T	2.37:g.220166388G>A	ENSP00000295718:p.Arg350Cys	274	4.53	13					219874632	355	42.09	258	B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	HMMPfam_Y_phosphatase,HMMSmart_SM00194,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1,superfamily_(Phosphotyrosine protein) phosphatases II	p.R350C	ENST00000295718.2	37	c.1048	CCDS2440.1	2	.	.	.	.	.	.	.	.	.	.	G	15.51	2.854688	0.51376	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.25414	1.8;1.8;1.8	4.69	3.74	0.42951	.	0.919524	0.09028	N	0.859106	T	0.21186	0.0510	N	0.19112	0.55	0.43841	D	0.996422	D;D	0.67145	0.991;0.996	B;B	0.43623	0.328;0.425	T	0.17228	-1.0376	10	0.87932	D	0	.	13.2505	0.60050	0.0:0.0:0.8307:0.1693	.	350;350	Q6NSL1;Q16849	.;PTPRN_HUMAN	C	350;350;350;260	ENSP00000386638:R350C;ENSP00000295718:R350C;ENSP00000444244:R260C	ENSP00000295718:R350C	R	-	1	0	PTPRN	219874632	0.998000	0.40836	0.998000	0.56505	0.461000	0.32589	4.405000	0.59741	2.421000	0.82119	0.561000	0.74099	CGT	-	NULL		0.622	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	protein_coding	OTTHUMT00000256819.2	G			219874632	-1	no_errors	NM_002846.2	genbank	human	reviewed	54_36p	missense	SNP	0.966	A	A	220166388	G	A	220166388	3	1	188	1	0	0	0	0	1	0	0	0	12807	1087	38	1	1959	1	PTPRN	2	220166388	Missense_Mutation	SNP	G	TCGA-AB-3006-03A-01D-0739-09	111249022	220166388	23032985	5	2122											
TRPC1	7220	genome.wustl.edu	37	3	142503880	142503880	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr3:142503880T>C	ENST00000476941.1	+	7	1781	c.1295T>C	c.(1294-1296)aTt>aCt	p.I432T	TRPC1_ENST00000273482.6_Missense_Mutation_p.I398T	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	432					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.I398T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CTGTGGATTATTGGTAAGTAT	0.343																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											47	49	48					3																	142503880		2199	4300	6499	143986570	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"Voltage-gated ion channels / Transient receptor potential cation channels"	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1295T>C	3.37:g.142503880T>C	ENSP00000419313:p.Ile432Thr	91	0	0					143986570	80	41.61	57	Q14CE4	Missense_Mutation	SNP	HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMPfam_Ion_trans,HMMPfam_TRP_2	p.I398T	ENST00000476941.1	37	c.1193	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089614	0.76756	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	D;D	0.98633	-5.04;-5.04	5.68	5.68	0.88126	Ion transport (1);	0.087723	0.85682	D	0.000000	D	0.97028	0.9029	L	0.45285	1.41	0.80722	D	1	P;B	0.35208	0.49;0.34	B;B	0.36959	0.212;0.237	D	0.96947	0.9692	10	0.36615	T	0.2	-3.7424	15.9332	0.79683	0.0:0.0:0.0:1.0	.	432;398	P48995;P48995-2	TRPC1_HUMAN;.	T	432;398	ENSP00000419313:I432T;ENSP00000273482:I398T	ENSP00000273482:I398T	I	+	2	0	TRPC1	143986570	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.662000	0.83803	2.164000	0.68074	0.477000	0.44152	ATT	-	NULL		0.343	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	protein_coding	OTTHUMT00000354520.1	T	NM_003304		143986570	1	no_errors	NM_003304.4	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	142503880	T	C	142503880	3	2	188	1	0	0	0	0	1	0	0	0	16575	1493	52	3	1215	3	TRPC1	3	142503880	Missense_Mutation	SNP	T	TCGA-AB-3006-03A-01D-0739-09		142503880	55518550	6	2123											
TET2	54790	genome.wustl.edu	37	4	106193892	106193892	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr4:106193892C>T	ENST00000540549.1	+	10	5214	c.4354C>T	c.(4354-4356)Cga>Tga	p.R1452*	TET2_ENST00000513237.1_Nonsense_Mutation_p.R1473*|TET2_ENST00000545826.1_3'UTR|TET2_ENST00000380013.4_Nonsense_Mutation_p.R1452*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1452					5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R1452*(7)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTCTTTTCGGCGAAAAGTCAG	0.483			"Mis N, F"		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	7	Substitution - Nonsense(7)	haematopoietic_and_lymphoid_tissue(7)	4											139	131	133					4																	106193892		692	1591	2283	106413341	SO:0001587	stop_gained	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"KIAA1546", "tet oncogene family member 2"	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.4354C>T	4.37:g.106193892C>T	ENSP00000442788:p.Arg1452*	191	3.03	6		38	39.68	25	106413341	249	38.82	158	B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	NULL	p.R254*	ENST00000540549.1	37	c.760	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	48	14.764615	0.99809	.	.	ENSG00000168769	ENST00000540549;ENST00000513237;ENST00000380013	.	.	.	5.23	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.009	13.0569	0.58986	0.3017:0.6983:0.0:0.0	.	.	.	.	X	1452;1473;1452	.	ENSP00000369351:R1452X	R	+	1	2	TET2	106413341	0.939000	0.31865	0.347000	0.25668	0.507000	0.33981	1.979000	0.40608	1.513000	0.48852	0.655000	0.94253	CGA	-	NULL		0.483	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	protein_coding	OTTHUMT00000253952.2	C	NM_017628		106413341	1	no_start_codon	ENST00000265149	ensembl	human	known	54_36p	nonsense	SNP	0.839	T	T	106193892	C	T	106193892	4	4	188	1	0	0	0	0	0	1	0	0	15767	760	27	1	4473	1	TET2	4	106193892	Nonsense_Mutation	SNP	C	TCGA-AB-3006-03A-01D-0739-09		106193892	84960384	7	2124											
TRAM1L1	133022	genome.wustl.edu	37	4	118006248	118006248	+	Missense_Mutation	SNP	A	A	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr4:118006248A>T	ENST00000310754.4	-	1	488	c.302T>A	c.(301-303)gTg>gAg	p.V101E		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	101					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.V101E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TTTATCCAACACATATTCCTG	0.368																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											85	76	79					4																	118006248		2203	4300	6503	118225696	SO:0001583	missense	0			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.302T>A	4.37:g.118006248A>T	ENSP00000309402:p.Val101Glu	113	1.74	2					118225696	187	42.11	136	Q8N2L7	Missense_Mutation	SNP	HMMPfam_TRAM_LAG1_CLN8,HMMSmart_TLC,HMMPfam_TRAM1	p.V101E	ENST00000310754.4	37	c.302	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	A	15.92	2.976057	0.53720	.	.	ENSG00000174599	ENST00000310754	T	0.53857	0.6	4.29	4.29	0.51040	TRAM1-like protein (1);	0.062819	0.64402	D	0.000005	T	0.70307	0.3209	M	0.77313	2.365	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	T	0.74691	-0.3580	10	0.87932	D	0	-6.0031	12.0381	0.53438	1.0:0.0:0.0:0.0	.	101	Q8N609	TR1L1_HUMAN	E	101	ENSP00000309402:V101E	ENSP00000309402:V101E	V	-	2	0	TRAM1L1	118225696	1.000000	0.71417	0.801000	0.32222	0.088000	0.18126	8.114000	0.89570	2.152000	0.67230	0.533000	0.62120	GTG	-	HMMPfam_TRAM1		0.368	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	protein_coding	OTTHUMT00000256513.1	A	NM_152402		118225696	-1	no_errors	NM_152402.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	118006248	A	T	118006248	3	4	188	1	0	0	0	0	1	0	0	0	16449	159	6	5	811	5	TRAM1L1	4	118006248	Missense_Mutation	SNP	A	TCGA-AB-3006-03A-01D-0739-09	11812356	118006248	73148028	8	2125											
MIER3	166968	genome.wustl.edu	37	5	56224656	56224656	+	Missense_Mutation	SNP	G	G	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	C	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr5:56224656G>C	ENST00000381199.3	-	10	872	c.862C>G	c.(862-864)Cga>Gga	p.R288G	MIER3_ENST00000409421.1_Missense_Mutation_p.R225G|MIER3_ENST00000381213.3_Missense_Mutation_p.R287G|MIER3_ENST00000381226.3_Missense_Mutation_p.R293G|CTD-2310F14.1_ENST00000606813.1_RNA			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	288	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R287G(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCAAAGCTTCGGCATTCTTCT	0.318																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											82	81	81					5																	56224656		2203	4299	6502	56260413	SO:0001583	missense	0			BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.862C>G	5.37:g.56224656G>C	ENSP00000370596:p.Arg288Gly	258	2.64	7		13	48	12	56260413	182	32.34	87	B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	HMMPfam_ELM2,HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding,PatternScan_EF_HAND_1	p.R287G	ENST00000381199.3	37	c.859		5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032791	0.75504	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.64	4.69	0.59074	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.148612	0.64402	D	0.000017	T	0.40645	0.1125	M	0.82923	2.615	0.47737	D	0.999502	P;P;B	0.48998	0.918;0.897;0.252	P;P;B	0.44477	0.451;0.451;0.229	T	0.49093	-0.8975	10	0.87932	D	0	-0.4052	11.2264	0.48886	0.0:0.0:0.5983:0.4017	.	288;293;287	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	G	293;287;288;225	ENSP00000370624:R293G;ENSP00000370611:R287G;ENSP00000370596:R288G;ENSP00000386584:R225G	ENSP00000370596:R288G	R	-	1	2	MIER3	56260413	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.365000	0.52335	2.647000	0.89833	0.467000	0.42956	CGA	-	HMMSmart_SANT,superfamily_Homeodomain_like,HMMPfam_Myb_DNA-binding		0.318	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	MIER3	protein_coding	OTTHUMT00000132523.2	G	NM_152622		56260413	-1	no_errors	NM_152622.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	56224656	G	C	56224656	3	2	188	1	0	0	0	0	1	0	0	0	9582	1124	39	4	806	4	MIER3	5	56224656	Missense_Mutation	SNP	G	TCGA-AB-3006-03A-01D-0739-09		56224656	124690604	9	2126											
MAP1B	4131	genome.wustl.edu	37	5	71491958	71491958	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr5:71491958T>C	ENST00000296755.7	+	5	3074	c.2776T>C	c.(2776-2778)Ttt>Ctt	p.F926L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	926					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.F926L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTGAAAAATTTGAAGATGA	0.507																																					Melanoma(17;367 822 11631 31730 47712)	dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	5											52	58	56					5																	71491958		2203	4300	6503	71527714	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"protein phosphatase 1, regulatory subunit 102"	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.2776T>C	5.37:g.71491958T>C	ENSP00000296755:p.Phe926Leu	464	3.52	17					71527714	471	42.41	349	A2BDK5	Missense_Mutation	SNP	HMMPfam_MAP1B_neuraxin,PatternScan_MAP1B_NEURAXIN	p.F926L	ENST00000296755.7	37	c.2776	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	T	13.77	2.336893	0.41398	.	.	ENSG00000131711	ENST00000296755	T	0.03242	4.0	5.6	5.6	0.85130	.	0.189671	0.37761	N	0.001956	T	0.04770	0.0129	L	0.43923	1.385	0.58432	D	0.999991	B;B	0.18968	0.032;0.032	B;B	0.22152	0.038;0.023	T	0.36890	-0.9729	10	0.09590	T	0.72	-8.5011	15.7834	0.78281	0.0:0.0:0.0:1.0	.	800;926	A2BDK6;P46821	.;MAP1B_HUMAN	L	926	ENSP00000296755:F926L	ENSP00000296755:F926L	F	+	1	0	MAP1B	71527714	1.000000	0.71417	0.573000	0.28510	0.061000	0.15899	4.263000	0.58853	2.133000	0.65898	0.482000	0.46254	TTT	-	NULL		0.507	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	protein_coding	OTTHUMT00000218561.6	T	NM_005909		71527714	1	no_errors	NM_005909.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	71491958	T	C	71491958	3	2	188	1	0	0	0	0	1	0	0	0	9228	1493	52	3	2794	3	MAP1B	5	71491958	Missense_Mutation	SNP	T	TCGA-AB-3006-03A-01D-0739-09	15267302	71491958	109423302	10	2127											
PCDHA4	56144	genome.wustl.edu	37	5	140188067	140188067	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr5:140188067C>T	ENST00000530339.1	+	1	1295	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	PCDHA4_ENST00000356878.4_Missense_Mutation_p.S432L|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S432L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	432	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S432L(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGGGCTCGCCTTCGCTG	0.617																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	5											105	105	105					5																	140188067		2203	4300	6503	140168251	SO:0001583	missense	0			AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"Cadherins / Protocadherins : Clustered"	8670	other	complex locus constituent	"ortholog of mouse CNR1, KIAA0345-like 10"	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1295C>T	5.37:g.140188067C>T	ENSP00000435300:p.Ser432Leu	44	0	0					140168251	127	44.1	101	O75285|Q2M253	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin-like	p.S432L	ENST00000530339.1	37	c.1295	CCDS54916.1	5	.	.	.	.	.	.	.	.	.	.	c	10.03	1.237673	0.22711	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.54675	0.56;0.56;0.56	4.5	0.142	0.14816	Cadherin (5);Cadherin-like (1);	0.942549	0.08589	N	0.923331	T	0.48169	0.1485	M	0.77103	2.36	0.09310	N	1	P;B;B	0.40731	0.728;0.178;0.143	B;B;B	0.37422	0.249;0.1;0.068	T	0.45026	-0.9289	10	0.54805	T	0.06	.	3.2126	0.06687	0.1188:0.5495:0.1159:0.2158	.	432;432;432	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	L	432	ENSP00000423470:S432L;ENSP00000349344:S432L;ENSP00000435300:S432L	ENSP00000349344:S432L	S	+	2	0	PCDHA4	140168251	0.000000	0.05858	0.425000	0.26659	0.600000	0.36913	-0.599000	0.05700	0.098000	0.17522	-0.232000	0.12228	TCG	-	HMMPfam_Cadherin,HMMSmart_SM00112,superfamily_Cadherin-like		0.617	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA4	protein_coding	OTTHUMT00000372864.2	C	NM_018907		140168251	1	no_errors	NM_018907.2	genbank	human	reviewed	54_36p	missense	SNP	0.781	T	T	140188067	C	T	140188067	3	4	188	1	0	0	0	0	1	0	0	0	11526	893	31	1	1297	1	PCDHA4	5	140188067	Missense_Mutation	SNP	C	TCGA-AB-3006-03A-01D-0739-09	68696109	140188067	40727193	11	2128											
GRM8	2918	genome.wustl.edu	37	7	126173251	126173251	+	Missense_Mutation	SNP	G	G	A	rs553468202	byFrequency	TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr7:126173251G>A	ENST00000339582.2	-	9	2993	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	GRM8_ENST00000444921.2_Missense_Mutation_p.R729W|GRM8_ENST00000358373.3_Missense_Mutation_p.R729W|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	729					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.R729W(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				TCTAGTGTCCGCTGCTCTCCA	0.502										HNSCC(24;0.065)			G|||	2	0.000399361	0	0	5008	,	,		11976	0		0	False		,,,				2504	0.002					dbGAP											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	7											87	73	78					7																	126173251		2203	4300	6503	125960487	SO:0001583	missense	0				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"GPCR / Class C : Glutamate receptors, metabotropic", "Glutamate receptors"	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2185C>T	7.37:g.126173251G>A	ENSP00000344173:p.Arg729Trp	378	0.79	3					125960487	187	40.69	129	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_2,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_Periplasmic binding protein-like I	p.R729W	ENST00000339582.2	37	c.2185	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159054	0.57368	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.88896	-2.44;-2.44;-2.44	5.61	1.15	0.20763	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.94015	0.7287	10	0.87932	D	0	.	14.4817	0.67587	0.0:0.0:0.2529:0.7471	.	729;729	O00222-2;O00222	.;GRM8_HUMAN	W	729	ENSP00000344173:R729W;ENSP00000409790:R729W;ENSP00000351142:R729W	ENSP00000344173:R729W	R	-	1	2	GRM8	125960487	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	0.411000	0.21115	0.283000	0.22279	0.655000	0.94253	CGG	-	HMMPfam_7tm_3		0.502	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	protein_coding	OTTHUMT00000059209.4	G			125960487	-1	no_errors	NM_000845.2	genbank	human	reviewed	54_36p	missense	SNP	0.995	A	A	126173251	G	A	126173251	3	1	188	1	0	0	0	0	1	0	0	0	6803	1086	38	1	603	1	GRM8	7	126173251	Missense_Mutation	SNP	G	TCGA-AB-3006-03A-01D-0739-09		126173251	32965412	12	2129											
ZNF485	220992	genome.wustl.edu	37	10	44112535	44112535	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr10:44112535C>G	ENST00000361807.3	+	5	1238	c.1044C>G	c.(1042-1044)caC>caG	p.H348Q	ZNF485_ENST00000374435.3_Missense_Mutation_p.H348Q|ZNF485_ENST00000374437.2_Missense_Mutation_p.H257Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H309Q(1)|p.H348Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGAAAACTCACAGTGGAAATA	0.433																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	10											119	111	114					10																	44112535		2203	4300	6503	43432541	SO:0001583	missense	0			AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"Zinc fingers, C2H2-type", "-"	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1044C>G	10.37:g.44112535C>G	ENSP00000354694:p.His348Gln	165	0	0		6	60	9	43432541	143	41.15	100	B4DSE6|Q96CL0	Missense_Mutation	SNP	HMMSmart_KRAB,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667	p.H309Q	ENST00000361807.3	37	c.927	CCDS7205.2	10	.	.	.	.	.	.	.	.	.	.	C	9.843	1.191639	0.21954	.	.	ENSG00000198298	ENST00000361807;ENST00000374437;ENST00000374435	T;T;T	0.66995	-0.24;-0.24;-0.24	1.59	0.423	0.16463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83161	0.5194	H	0.95745	3.715	0.26969	N	0.965635	D	0.89917	1.0	D	0.97110	1.0	T	0.70004	-0.4991	9	0.87932	D	0	.	4.0477	0.09781	0.0:0.4108:0.0:0.5892	.	348	Q8NCK3	ZN485_HUMAN	Q	348;257;348	ENSP00000354694:H348Q;ENSP00000363560:H257Q;ENSP00000363558:H348Q	ENSP00000354694:H348Q	H	+	3	2	ZNF485	43432541	0.001000	0.12720	0.922000	0.36590	0.881000	0.50899	-0.472000	0.06623	0.108000	0.17862	-0.752000	0.03492	CAC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.433	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF485	protein_coding	OTTHUMT00000047719.2	C	NM_145312		43432541	1	no_errors	NM_145312.3	genbank	human	validated	54_36p	missense	SNP	0.995	G	G	44112535	C	G	44112535	3	3	188	1	0	0	0	0	1	0	0	0	17935	477	17	4	1058	4	ZNF485	10	44112535	Missense_Mutation	SNP	C	TCGA-AB-3006-03A-01D-0739-09		44112535	91422212	13	2130											
B4GALNT1	2583	genome.wustl.edu	37	12	58025850	58025850	+	Silent	SNP	G	G	A			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr12:58025850G>A	ENST00000341156.4	-	2	650	c.66C>T	c.(64-66)ctC>ctT	p.L22L	B4GALNT1_ENST00000550764.1_Silent_p.L22L|B4GALNT1_ENST00000418555.2_Silent_p.L22L|B4GALNT1_ENST00000449184.3_Silent_p.L22L|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000552350.1_Silent_p.L22L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	22					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.L22L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TCGCGTACAGGAGCCCCAGCG	0.726																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	12											5	8	7					12																	58025850		2078	4043	6121	56312117	SO:0001819	synonymous_variant	0			M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"Beta 4-glycosyltransferases", "Glycosyltransferase family 2 domain containing"	4117	protein-coding gene	gene with protein product	"GD2 synthase, GM2 synthase"	601873	"UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)", "UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1", "spastic paraplegia 26"	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.66C>T	12.37:g.58025850G>A		216	1.82	4					56312117	118	41.58	84	B4DE26|Q8N636	Silent	SNP	HMMPfam_Glycos_transf_2,superfamily_SSF53448	p.L22	ENST00000341156.4	37	c.66	CCDS8950.1	12																																																																																			-	NULL		0.726	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	B4GALNT1	protein_coding	OTTHUMT00000407853.1	G	NM_001478		56312117	-1	no_errors	NM_001478.3	genbank	human	reviewed	54_36p	silent	SNP	0.988	A	A	58025850	G	A	58025850	2	1	188	1	0	0	0	0	0	0	0	1	1266	1161	41	2		2	B4GALNT1	12	58025850	Silent	SNP	G	TCGA-AB-3006-03A-01D-0739-09		58025850	75826045	14	2131											
USP44	84101	genome.wustl.edu	37	12	95926872	95926872	+	Silent	SNP	A	A	G			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr12:95926872A>G	ENST00000258499.3	-	2	1449	c.1161T>C	c.(1159-1161)acT>acC	p.T387T	USP44_ENST00000537435.2_Silent_p.T387T|USP44_ENST00000552440.1_Silent_p.T387T|USP44_ENST00000393091.2_Silent_p.T387T	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	387	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.T387T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTTGGAACAAAGTATGCAATT	0.458																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	12											144	130	135					12																	95926872		2203	4300	6503	94451003	SO:0001819	synonymous_variant	0			AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"Ubiquitin-specific peptidases"	20064	protein-coding gene	gene with protein product		610993	"ubiquitin specific protease 44"			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.1161T>C	12.37:g.95926872A>G		172	2.82	5		12	42.86	9	94451003	258	37.98	158	B2RDW3	Silent	SNP	HMMPfam_UCH,HMMPfam_zf-UBP,HMMSmart_SM00290,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_Cysteine proteinases	p.T387	ENST00000258499.3	37	c.1161	CCDS9053.1	12																																																																																			-	HMMPfam_UCH,superfamily_Cysteine proteinases		0.458	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP44	protein_coding	OTTHUMT00000408312.1	A	NM_032147		94451003	-1	no_errors	NM_001042403.1	genbank	human	validated	54_36p	silent	SNP	0.997	G	G	95926872	A	G	95926872	2	3	188	1	0	0	0	0	0	0	0	1	17072	59	3	3		3	USP44	12	95926872	Silent	SNP	A	TCGA-AB-3006-03A-01D-0739-09	37901022	95926872	37925023	15	2132											
FLT3	2322	genome.wustl.edu	37	13	28608262	28608263	+	In_Frame_Ins	INS	-	-	TCATATTCTCTGAAATCAACGTAGAAGTACTCA			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	-	-	-	TCATATTCTCTGAAATCAACGTAGAAGTACTCA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr13:28608262_28608263insTCATATTCTCTGAAATCAACGTAGAAGTACTCA	ENST00000241453.7	-	14	1874_1875	c.1793_1794insTGAGTACTTCTACGTTGATTTCAGAGAATATGA	c.(1792-1794)gaa>gaTGAGTACTTCTACGTTGATTTCAGAGAATATGAa	p.597_598insDEYFYVDFREY	FLT3_ENST00000380982.4_In_Frame_Ins_p.597_598insDEYFYVDFREY|FLT3_ENST00000537084.1_In_Frame_Ins_p.597_598insDEYFYVDFREY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	597	Important for normal regulation of the kinase activity and for maintaining the kinase in an inactive state in the absence of bound ligand.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.597_598>DYVDFREY(1)|p.E598_Y599ins22(1)|p.E598_Y599ins25(1)|p.E598_Y599ins14(1)|p.E598>DMISPEDMK(1)|p.E598_Y599insFYVDFREYE(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGATCATATTCATATTCTCT	0.376			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	6	Insertion - In frame(4)|Complex - insertion inframe(2)	haematopoietic_and_lymphoid_tissue(6)	13																																								27506263	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1761_1793dupTGAGTACTTCTACGTTGATTTCAGAGAATATGA	13.37:g.28608262_28608263insTCATATTCTCTGAAATCAACGTAGAAGTACTCA	ENSP00000241453:p.Tyr597_Glu598insAspGluTyrPheTyrValAspPheArgGluTyr								27506262				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.598in_frame_insDEYFYVDFREY	ENST00000241453.7	37	c.1793	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.376	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506263	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	0.821	TCATATTCTCTGAAATCAACGTAGAAGTACTCA	TCATATTCTCTGAAATCAACGTAGAAGTACTCA	28608263	-	TCATATTCTCTGAAATCAACGTAGAAGTACTCA	28608262	7	5	188	1	0	1	1	0	0	0	0	0	5942	1490	52	0	1231	0	FLT3	13	28608262	In_Frame_Ins	INS	-	TCGA-AB-3006-03A-01D-0739-09		28608262	86561616	16	2133											
CACNA1G	8913	genome.wustl.edu	37	17	48667949	48667949	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr17:48667949T>C	ENST00000359106.5	+	10	2419	c.2419T>C	c.(2419-2421)Tac>Cac	p.Y807H	CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y807H|CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y807H|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y807H|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y807H|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y807H|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000505165.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000507896.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y807H|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000416767.4_Missense_Mutation_p.Y807H|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y807H|CACNA1G_ENST00000358244.5_Missense_Mutation_p.Y807H|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y807H|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y807H	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	807					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAAGAATCCCTACAACATCTT	0.537																																						dbGAP											0			17											111	108	109					17																	48667949		2027	4173	6200	46022948	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"Calcium channel subunits", "Voltage-gated ion channels / Calcium channels"	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2419T>C	17.37:g.48667949T>C	ENSP00000352011:p.Tyr807His	383	0.26	1					46022948	425	41.02	297	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels	p.Y807H	ENST00000359106.5	37	c.2419	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	t	29.8	5.034415	0.93575	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98455	-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94;-4.94	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98554	0.9517	L	0.58101	1.795	0.80722	D	1	P;D;P;P;P;P;P;P;P;P;D;P;P;D;P;P;D;D;P;P;D;D;P;B;D;D	0.89917	0.785;0.966;0.839;0.71;0.821;0.905;0.817;0.903;0.817;0.869;0.984;0.948;0.883;0.963;0.888;0.893;0.98;0.96;0.946;0.762;1.0;0.988;0.944;0.015;1.0;0.975	P;D;P;P;P;P;P;D;P;P;D;D;D;D;P;D;D;P;D;P;D;D;D;B;D;D	0.91635	0.721;0.953;0.874;0.841;0.841;0.874;0.8;0.932;0.8;0.841;0.946;0.945;0.953;0.957;0.724;0.949;0.957;0.857;0.949;0.861;0.999;0.967;0.912;0.05;0.999;0.927	D	0.99890	1.1133	10	0.87932	D	0	.	15.8337	0.78782	0.0:0.0:0.0:1.0	.	807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807;807	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	H	807	ENSP00000353990:Y807H;ENSP00000339302:Y807H;ENSP00000392390:Y807H;ENSP00000347078:Y807H;ENSP00000409759:Y807H;ENSP00000425522:Y807H;ENSP00000426261:Y807H;ENSP00000425451:Y807H;ENSP00000422407:Y807H;ENSP00000426814:Y807H;ENSP00000427238:Y807H;ENSP00000423112:Y807H;ENSP00000420918:Y807H;ENSP00000426172:Y807H;ENSP00000423045:Y807H;ENSP00000427173:Y807H;ENSP00000426098:Y807H;ENSP00000425698:Y807H;ENSP00000426232:Y807H;ENSP00000423317:Y807H;ENSP00000350979:Y807H;ENSP00000352011:Y807H;ENSP00000414388:Y807H;ENSP00000423155:Y807H;ENSP00000422268:Y807H;ENSP00000421518:Y807H	ENSP00000339302:Y807H	Y	+	1	0	CACNA1G	46022948	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.152000	0.67230	0.459000	0.35465	TAC	-	HMMPfam_Ion_trans,superfamily_Voltage-gated potassium channels		0.537	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	protein_coding	OTTHUMT00000367895.1	T	NM_018896		46022948	1	no_errors	NM_018896.3	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	48667949	T	C	48667949	3	2	188	1	0	0	0	0	1	0	0	0	2544	1522	53	3	2457	3	CACNA1G	17	48667949	Missense_Mutation	SNP	T	TCGA-AB-3006-03A-01D-0739-09		48667949	32527261	17	2134											
ATP9B	374868	genome.wustl.edu	37	18	77013482	77013482	+	Silent	SNP	T	T	A			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chr18:77013482T>A	ENST00000426216.2	+	12	1226	c.1209T>A	c.(1207-1209)ggT>ggA	p.G403G	ATP9B_ENST00000307671.7_Silent_p.G403G|RP11-1136J12.1_ENST00000591742.1_RNA	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	403					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G403G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GATTTGTGGGTCCATGGTACC	0.378																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	18											241	220	227					18																	77013482		2203	4300	6503	75114470	SO:0001819	synonymous_variant	0			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"ATPases / P-type"	13541	protein-coding gene	gene with protein product		614446	"ATPase, Class II, type 9B"			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1209T>A	18.37:g.77013482T>A		75	3.85	3		21	50	21	75114470	168	41.11	118	O60872|Q08AD8|Q08AD9	Silent	SNP	HMMPfam_Hydrolase,HMMPfam_E1-E2_ATPase,PatternScan_ATPASE_E1_E2,superfamily_HAD-like,superfamily_Calcium ATPase transduction domain A,superfamily_Metal cation-transporting ATPase ATP-binding domain N	p.G403	ENST00000426216.2	37	c.1209	CCDS12014.1	18																																																																																			-	HMMPfam_E1-E2_ATPase		0.378	ATP9B-001	KNOWN	basic|CCDS	protein_coding	ATP9B	protein_coding	OTTHUMT00000256402.3	T	NM_198531		75114470	1	no_errors	NM_198531.3	genbank	human	validated	54_36p	silent	SNP	0.999	A	A	77013482	T	A	77013482	2	1	188	1	0	0	0	0	0	0	0	1	1199	1654	58	5		5	ATP9B	18	77013482	Silent	SNP	T	TCGA-AB-3006-03A-01D-0739-09		77013482	1063766	18	2135											
PLXNA3	55558	genome.wustl.edu	37	X	153691781	153691781	+	Silent	SNP	C	C	T			TCGA-AB-3006-03A-01D-0739-09	TCGA-AB-3006-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	852e4100-27a4-4253-b1ae-089fe0fec4c3	3ecb6bf3-b4c8-43ad-9928-411550ebc27c	g.chrX:153691781C>T	ENST00000369682.3	+	5	1540	c.1365C>T	c.(1363-1365)ccC>ccT	p.P455P		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	455	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)	p.P455P(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACAGTCCCCGTGGTGGATG	0.632																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	X											123	106	112					X																	153691781		2203	4300	6503	153344975	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"Plexins"	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.1365C>T	X.37:g.153691781C>T		93	3.12	3					153344975	23	80	92	Q5HY36	Silent	SNP	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema,HMMPfam_PSI,HMMPfam_TIG,HMMSmart_IPT,HMMSmart_PSI,superfamily_Rho_GAP,HMMPfam_Plexin_cytopl,superfamily_Ig_E-set,superfamily_Plexin-like_fold	p.P455	ENST00000369682.3	37	c.1365	CCDS14752.1	X																																																																																			-	HMMPfam_Sema,HMMSmart_Sema,superfamily_Sema		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153344975	1	no_errors	NM_017514.3	genbank	human	validated	54_36p	silent	SNP	0.183	T	T	153691781	C	T	153691781	2	4	188	1	0	0	0	0	0	0	0	1	12121	639	23	1		1	PLXNA3	23	153691781	Silent	SNP	C	TCGA-AB-3006-03A-01D-0739-09		153691781	1578779	19	2136											
DCTN1	1639	genome.wustl.edu	37	2	74605337	74605337	+	Silent	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr2:74605337G>A	ENST00000361874.3	-	2	386	c.69C>T	c.(67-69)agC>agT	p.S23S	DCTN1_ENST00000409567.3_Silent_p.S23S|DCTN1_ENST00000394003.3_Silent_p.S23S|DCTN1_ENST00000409240.1_Silent_p.S6S|DCTN1_ENST00000409868.1_Silent_p.S6S	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	23					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)	p.S23S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GAGGCCGGGCGCTTGCCTCCG	0.562																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	2											50	53	52					2																	74605337		2203	4300	6503	74458845	SO:0001819	synonymous_variant	0				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"p150 glued homolog (Drosophila)"	601143	"dynactin 1 (p150, Glued (Drosophila) homolog)"			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.69C>T	2.37:g.74605337G>A		949	0.11	1		14	41.67	10	74458845	646	35.84	362	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	HMMPfam_CAP_GLY,PatternScan_CAP_GLY_1,superfamily_Spectrin repeat,superfamily_Cap-Gly domain	p.S23	ENST00000361874.3	37	c.69	CCDS1939.1	2																																																																																			-	superfamily_Cap-Gly domain		0.562	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	protein_coding	OTTHUMT00000252227.3	G	NM_004082		74458845	-1	no_errors	NM_004082.1	genbank	human	reviewed	54_36p	silent	SNP	0.990	A	A	74605337	G	A	74605337	2	1	189	1	0	0	0	0	0	0	0	1	4306	1078	38	1		1	DCTN1	2	74605337	Silent	SNP	G	TCGA-AB-3007-03A-01D-0739-09		74605337	168594036	1	2137											
TMEM169	92691	genome.wustl.edu	37	2	216964917	216964917	+	Silent	SNP	C	C	T			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr2:216964917C>T	ENST00000295658.4	+	3	753	c.546C>T	c.(544-546)taC>taT	p.Y182Y	TMEM169_ENST00000437356.2_Silent_p.Y182Y|TMEM169_ENST00000406027.2_Silent_p.Y182Y|TMEM169_ENST00000454545.1_Silent_p.Y182Y	NM_001142311.1|NM_001142312.1|NM_138390.3	NP_001135783.1|NP_001135784.1|NP_612399.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	182						integral component of membrane (GO:0016021)		p.Y182Y(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTCTACTACGGCACTATCA	0.512																																						dbGAP											2	Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	2											263	224	237					2																	216964917		2203	4300	6503	216673162	SO:0001819	synonymous_variant	0			AK091582	CCDS2401.1	2q35	2008-02-05			ENSG00000163449	ENSG00000163449			25130	protein-coding gene	gene with protein product						12477932	Standard	NM_001142310		Approved	FLJ34263	uc002vfv.4	Q96HH4	OTTHUMG00000133053	ENST00000295658.4:c.546C>T	2.37:g.216964917C>T		2880	0.14	4					216673162	1169	34.91	629	B2R8W6	Silent	SNP	NULL	p.Y182	ENST00000295658.4	37	c.546	CCDS2401.1	2																																																																																			-	NULL		0.512	TMEM169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM169	protein_coding	OTTHUMT00000256666.2	C	NM_138390		216673162	1	no_errors	NM_138390.1	genbank	human	validated	54_36p	silent	SNP	0.998	T	T	216964917	C	T	216964917	2	4	189	1	0	0	0	0	0	0	0	1	16081	547	19	1		1	TMEM169	2	216964917	Silent	SNP	C	TCGA-AB-3007-03A-01D-0739-09	142359580	216964917	26234456	2	2138											
TTLL2	83887	genome.wustl.edu	37	6	167754667	167754667	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr6:167754667G>A	ENST00000239587.5	+	3	1367	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	427	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.A427T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGAGAGAAGCCAGTAATGC	0.418																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	6											85	87	86					6																	167754667		2203	4300	6503	167674657	SO:0001583	missense	0			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"Tubulin tyrosine ligase-like family"	21211	protein-coding gene	gene with protein product			"chromosome 6 open reading frame 104"	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1279G>A	6.37:g.167754667G>A	ENSP00000239587:p.Ala427Thr	1012	0.2	2		2	0	0	167674657	331	36.08	188	B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like	p.A427T	ENST00000239587.5	37	c.1279	CCDS5301.1	6	.	.	.	.	.	.	.	.	.	.	G	2.760	-0.258085	0.05791	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02395	4.31	3.61	-7.22	0.01485	.	2.519730	0.01379	N	0.012845	T	0.00356	0.0011	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45600	-0.9250	10	0.13108	T	0.6	.	4.2791	0.10824	0.1023:0.2217:0.4721:0.2039	.	427	Q9BWV7	TTLL2_HUMAN	T	427;354	ENSP00000239587:A427T	ENSP00000239587:A427T	A	+	1	0	TTLL2	167674657	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-5.443000	0.00122	-3.096000	0.00246	-0.479000	0.04858	GCC	-	NULL		0.418	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	protein_coding	OTTHUMT00000043127.3	G	NM_031949		167674657	1	no_errors	NM_031949.4	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	167754667	G	A	167754667	3	1	189	1	0	0	0	0	1	0	0	0	16724	971	34	2	1289	2	TTLL2	6	167754667	Missense_Mutation	SNP	G	TCGA-AB-3007-03A-01D-0739-09		167754667	3360400	3	2139											
STX3	6809	genome.wustl.edu	37	11	59559689	59559689	+	Splice_Site	SNP	G	G	T			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr11:59559689G>T	ENST00000337979.4	+	6	1013		c.e6+1		STX3_ENST00000535361.1_Splice_Site|STX3_ENST00000437946.2_Splice_Site|STX3_ENST00000300150.7_Splice_Site|STX3_ENST00000529177.1_Splice_Site	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)	p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CTCGAAATTAGTATGTACTTG	0.512																																						dbGAP											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	11											108	90	96					11																	59559689		2201	4295	6496	59316265	SO:0001630	splice_region_variant	0			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"syntaxin 3A"	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.466+1G>T	11.37:g.59559689G>T		1497	0	0		0	100	3	59316265	683	36.13	387	B4DME0|O43750|O43751|Q15360	Splice_Site	SNP	-	e6+1	ENST00000337979.4	37	c.466+1	CCDS7975.1	11	.	.	.	.	.	.	.	.	.	.	g	21.3	4.132824	0.77662	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000437946;ENST00000529177;ENST00000528805	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5317	0.87816	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STX3	59316265	1.000000	0.71417	0.999000	0.59377	0.743000	0.42351	9.169000	0.94788	2.478000	0.83669	0.650000	0.86243	.	-	-		0.512	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	protein_coding	OTTHUMT00000394264.1	G	NM_004177	Intron	59316265	1	no_errors	NM_004177.3	genbank	human	provisional	54_36p	splice_site	SNP	1.000	T	T	59559689	G	T	59559689	5	4	189	1	0	0	0	0	0	0	1	0	15345	1043	36	4	489	4	STX3	11	59559689	Splice_Site	SNP	G	TCGA-AB-3007-03A-01D-0739-09		59559689	75446827	4	2140											
FLT3	2322	genome.wustl.edu	37	13	28608255	28608256	+	In_Frame_Ins	INS	-	-	ATCATATTCATATTCTCTGAA			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	-	-	-	ATCATATTCATATTCTCTGAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr13:28608255_28608256insATCATATTCATATTCTCTGAA	ENST00000241453.7	-	14	1881_1882	c.1800_1801insTTCAGAGAATATGAATATGAT	c.(1798-1803)gatctc>gatTTCAGAGAATATGAATATGATctc	p.599_600insDFREYEY	FLT3_ENST00000537084.1_In_Frame_Ins_p.599_600insDFREYEY|FLT3_ENST00000380982.4_In_Frame_Ins_p.599_600insDFREYEY	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	599					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D600_L601insFREYEYD(4)|p.D600_L601ins17(2)|p.D600_L601>HVDFREYEYD(2)|p.Y599_D600insEYEYEYEY(2)|p.Y599_D600ins12(1)|p.D600_L601ins28(1)|p.D600>EPAPQINSTGSSDNEYFYVDFREYEYDLT(1)|p.600_601>PTSQVTGSSDNEYFYVDFREYEYD(1)|p.600_601>PRGFYVDFREYEYD(1)|p.D600_L601ins20(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCATTTGAGATCATATTCAT	0.366			"Mis, O"		"AML, ALL"																																	dbGAP		Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	16	Insertion - In frame(11)|Complex - insertion inframe(5)	haematopoietic_and_lymphoid_tissue(16)	13																																								27506256	SO:0001652	inframe_insertion	0			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"CD molecules", "Immunoglobulin superfamily / Immunoglobulin-like domain containing"	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1780_1800dupTTCAGAGAATATGAATATGAT	13.37:g.28608255_28608256insATCATATTCATATTCTCTGAA	ENSP00000241453:p.Asp593_Tyr599dup								27506255				A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	In_Frame_Ins	INS	HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR,superfamily_Kinase_like,HMMPfam_ig,PatternScan_PROTEIN_KINASE_ATP,superfamily_SSF48726	p.600in_frame_insFREYEYD	ENST00000241453.7	37	c.1801_1800	CCDS31953.1	13																																																																																			-	superfamily_Kinase_like		0.366	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	protein_coding	OTTHUMT00000044319.2	-			27506256	-1	no_errors	NM_004119.2	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:0.998	ATCATATTCATATTCTCTGAA	ATCATATTCATATTCTCTGAA	28608256	-	ATCATATTCATATTCTCTGAA	28608255	7	5	189	1	0	1	1	0	0	0	0	0	5942	942	33	0	1224	0	FLT3	13	28608255	In_Frame_Ins	INS	-	TCGA-AB-3007-03A-01D-0739-09		28608255	86561623	5	2141											
SLC12A1	6557	genome.wustl.edu	37	15	48539175	48539175	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr15:48539175G>A	ENST00000558405.1	+	11	1536	c.1522G>A	c.(1522-1524)Gcc>Acc	p.A508T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A508T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.A508T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	508					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.A508T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACTCTCCTCCGCCCTGGCCTC	0.502																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	15	GRCh37	CM981823	SLC12A1	M							242	221	228					15																	48539175		2198	4297	6495	46326467	SO:0001583	missense	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"Solute carriers"	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1522G>A	15.37:g.48539175G>A	ENSP00000453409:p.Ala508Thr	1545	0.19	3					46326467	1033	23.88	326	A8JYA2|E9PDW4	Missense_Mutation	SNP	HMMPfam_AA_permease,HMMPfam_AA_permease_N	p.A508T	ENST00000558405.1	37	c.1522	CCDS10129.2	15	.	.	.	.	.	.	.	.	.	.	G	33	5.244992	0.95272	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.99023	-5.34;-5.34	4.98	4.98	0.66077	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99417	0.9794	M	0.90198	3.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98720	1.0708	10	0.87932	D	0	.	18.4428	0.90673	0.0:0.0:1.0:0.0	.	508;508	E9PDW4;Q13621	.;S12A1_HUMAN	T	321;508;508	ENSP00000370381:A508T;ENSP00000379822:A508T	ENSP00000370381:A508T	A	+	1	0	SLC12A1	46326467	1.000000	0.71417	0.972000	0.41901	0.979000	0.70002	9.652000	0.98499	2.582000	0.87167	0.655000	0.94253	GCC	-	HMMPfam_AA_permease		0.502	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	protein_coding	OTTHUMT00000417131.1	G			46326467	1	no_errors	NM_000338.2	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	48539175	G	A	48539175	3	1	189	1	0	0	0	0	1	0	0	0	14382	1087	38	1	1664	1	SLC12A1	15	48539175	Missense_Mutation	SNP	G	TCGA-AB-3007-03A-01D-0739-09		48539175	53992217	6	2142											
G6PC	2538	genome.wustl.edu	37	17	41063001	41063001	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr17:41063001T>G	ENST00000253801.2	+	5	711	c.632T>G	c.(631-633)cTc>cGc	p.L211R	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	211			L -> P (in GSD1A). {ECO:0000269|PubMed:8733042}.		carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.L211R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAATATTTTCTCATTACCTTC	0.478																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	17	GRCh37	CM960673	G6PC	M							107	82	91					17																	41063001		2203	4300	6503	38316527	SO:0001583	missense	0			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"glycogen storage disease type I, von Gierke disease"	613742	"glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.632T>G	17.37:g.41063001T>G	ENSP00000253801:p.Leu211Arg	1467	0	0					38316527	1322	37.43	792	A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	HMMPfam_PAP2,HMMSmart_acidPPc,superfamily_AcPase_VanPerase	p.L211R	ENST00000253801.2	37	c.632	CCDS11446.1	17	.	.	.	.	.	.	.	.	.	.	T	2.338	-0.351845	0.05173	.	.	ENSG00000131482	ENST00000253801	T	0.77489	-1.1	4.86	4.86	0.63082	.	0.583743	0.17957	N	0.156340	T	0.64516	0.2605	L	0.31926	0.97	0.40776	D	0.983139	B	0.23540	0.087	B	0.25614	0.062	T	0.60265	-0.7297	10	0.27082	T	0.32	.	6.0701	0.19885	0.1383:0.0:0.2199:0.6418	.	211	P35575	G6PC_HUMAN	R	211	ENSP00000253801:L211R	ENSP00000253801:L211R	L	+	2	0	G6PC	38316527	0.825000	0.29262	0.102000	0.21198	0.125000	0.20455	1.777000	0.38604	2.040000	0.60383	0.455000	0.32223	CTC	-	NULL		0.478	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	G6PC	protein_coding	OTTHUMT00000452451.1	T	NM_000151		38316527	1	no_errors	NM_000151.2	genbank	human	reviewed	54_36p	missense	SNP	0.741	G	G	41063001	T	G	41063001	3	3	189	1	0	0	0	0	1	0	0	0	6143	1551	54	5	650	5	G6PC	17	41063001	Missense_Mutation	SNP	T	TCGA-AB-3007-03A-01D-0739-09		41063001	40132209	7	2143											
CECR2	27443	genome.wustl.edu	37	22	18022686	18022686	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3007-03A-01D-0739-09	TCGA-AB-3007-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	f6d05765-b161-480b-8613-b243e7a579a0	fff75bd4-e19f-4b6c-841d-12f05e25a817	g.chr22:18022686G>A	ENST00000400585.2	+	16	2803	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N	CECR2_ENST00000400573.5_Missense_Mutation_p.D930N|CECR2_ENST00000262608.8_Missense_Mutation_p.D931N			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	972					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.D930N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GCCTGAGAATGACCAAGGTAA	0.493																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	22											37	39	39					22																	18022686		1929	4142	6071	16402686	SO:0001583	missense	0			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2365G>A	22.37:g.18022686G>A	ENSP00000383428:p.Asp789Asn	356	0.56	2					16402686	352	33.96	181	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,PatternScan_BROMODOMAIN_1	p.D930N	ENST00000400585.2	37	c.2788		22	.	.	.	.	.	.	.	.	.	.	G	2.066	-0.414282	0.04766	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.26660	1.85;1.86;1.72	4.88	3.86	0.44501	.	0.498279	0.18400	N	0.142396	T	0.12944	0.0314	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.26815	-1.0092	10	0.10902	T	0.67	-7.3281	5.4141	0.16363	0.1976:0.0:0.8024:0.0	.	972;789;930	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	N	789;930;931	ENSP00000383428:D789N;ENSP00000383417:D930N;ENSP00000262608:D931N	ENSP00000262608:D931N	D	+	1	0	CECR2	16402686	0.784000	0.28713	0.052000	0.19188	0.283000	0.27025	2.761000	0.47589	2.688000	0.91661	0.609000	0.83330	GAC	-	NULL		0.493	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	protein_coding	OTTHUMT00000316226.2	G	NM_031413		16402686	1	no_errors	ENST00000400585	ensembl	human	known	54_36p	missense	SNP	0.021	A	A	18022686	G	A	18022686	3	1	189	1	0	0	0	0	1	0	0	0	3206	1290	45	2	2848	2	CECR2	22	18022686	Missense_Mutation	SNP	G	TCGA-AB-3007-03A-01D-0739-09		18022686	33281880	8	2144											
HMCN1	83872	genome.wustl.edu	37	1	186094773	186094773	+	Silent	SNP	G	G	A			TCGA-AB-3008-03A-01D-0739-09	TCGA-AB-3008-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	21eeb895-fd30-4e1b-914e-f5b37df7d76c	f4101358-99f4-4e2d-9203-df902712e354	g.chr1:186094773G>A	ENST00000271588.4	+	82	12766	c.12537G>A	c.(12535-12537)acG>acA	p.T4179T	HMCN1_ENST00000367492.2_Silent_p.T4179T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4179	Ig-like C2-type 41.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T4179T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACACTACACGGTCAATGAGA	0.393																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1											87	87	87					1																	186094773		2203	4300	6503	184361396	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"Fibulins", "Immunoglobulin superfamily / I-set domain containing"	19194	protein-coding gene	gene with protein product	"fibulin 6"	608548	"age-related macular degeneration 1 (senile macular degeneration)"	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12537G>A	1.37:g.186094773G>A		459	25.24	155					184361396	603	50.61	618	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	PatternScan_ASX_HYDROXYL,PatternScan_CECROPIN,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00179,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_EGF,HMMSmart_SM00181,HMMPfam_G2F,HMMSmart_SM00682,superfamily_GFP-like,PatternScan_EGF_2,HMMPfam_EGF_CA,HMMPfam_I-set,HMMPfam_ig,PatternScan_EGF_CA,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_EGF/Laminin	p.T4179	ENST00000271588.4	37	c.12537	CCDS30956.1	1																																																																																			-	HMMSmart_SM00409,HMMPfam_I-set,superfamily_Immunoglobulin		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	G	NM_031935		184361396	1	no_errors	NM_031935.2	genbank	human	reviewed	54_36p	silent	SNP	0.818	A	A	186094773	G	A	186094773	2	1	190	1	0	0	0	0	0	0	0	1	7220	1103	39	1		1	HMCN1	1	186094773	Silent	SNP	G	TCGA-AB-3008-03A-01D-0739-09		186094773	63155848	1	2145											
KAT2B	8850	genome.wustl.edu	37	3	20164251	20164251	+	Silent	SNP	G	G	A			TCGA-AB-3008-03A-01D-0739-09	TCGA-AB-3008-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	21eeb895-fd30-4e1b-914e-f5b37df7d76c	f4101358-99f4-4e2d-9203-df902712e354	g.chr3:20164251G>A	ENST00000263754.4	+	9	1823	c.1368G>A	c.(1366-1368)gaG>gaA	p.E456E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	456					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.E456E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TAATCAACGAGGTTATGTCTA	0.507																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	3											88	84	85					3																	20164251		2203	4300	6503	20139255	SO:0001819	synonymous_variant	0			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"Chromatin-modifying enzymes / K-acetyltransferases"	8638	protein-coding gene	gene with protein product		602303	"p300/CBP-associated factor"	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1368G>A	3.37:g.20164251G>A		981	21.65	271		39	31.58	18	20139255	503	43.26	385	Q6NSK1	Silent	SNP	HMMPfam_Acetyltransf_1,HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_PCAF_N,superfamily_Acyl_CoA_acyltransferase,PatternScan_BROMODOMAIN_1	p.E456	ENST00000263754.4	37	c.1368	CCDS2634.1	3																																																																																			-	NULL		0.507	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2B	protein_coding	OTTHUMT00000252880.1	G	NM_003884		20139255	1	no_errors	NM_003884.4	genbank	human	reviewed	54_36p	silent	SNP	1.000	A	A	20164251	G	A	20164251	2	1	190	1	0	0	0	0	0	0	0	1	7982	991	35	2		2	KAT2B	3	20164251	Silent	SNP	G	TCGA-AB-3008-03A-01D-0739-09		20164251	177858179	2	2146											
C8orf84	157869	genome.wustl.edu	37	8	73993401	73993401	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3008-03A-01D-0739-09	TCGA-AB-3008-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	21eeb895-fd30-4e1b-914e-f5b37df7d76c	f4101358-99f4-4e2d-9203-df902712e354	g.chr8:73993401C>T	ENST00000297354.6	-	2	466	c.262G>A	c.(262-264)Gac>Aac	p.D88N	RP11-956J14.1_ENST00000442274.1_RNA|SBSPON_ENST00000519697.1_5'UTR	NM_153225.3	NP_694957.3	Q8IVN8	SBSPO_HUMAN	somatomedin B and thrombospondin, type 1 domain containing	88	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				immune response (GO:0006955)	proteinaceous extracellular matrix (GO:0005578)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.D83N(1)									TTGCACTGGTCTGCACAACCA	0.642																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	8											59	64	63					8																	73993401		2026	4187	6213	74155955	SO:0001583	missense	0				CCDS43747.2	8q21.11	2013-08-07	2012-05-15	2012-05-15	ENSG00000164764	ENSG00000164764			30362	protein-coding gene	gene with protein product	"RPE spondin", "rpe-spondin"		"chromosome 8 open reading frame 84"	C8orf84		12107410	Standard	NM_153225		Approved	RPESP	uc003xzf.3	Q8IVN8	OTTHUMG00000157144	ENST00000297354.6:c.262G>A	8.37:g.73993401C>T	ENSP00000297354:p.Asp88Asn	729	28.39	289					74155955	350	51.52	373	A8KAA5|Q96J64	Missense_Mutation	SNP	HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,PatternScan_SMB_1	p.D83N	ENST00000297354.6	37	c.247	CCDS43747.2	8	.	.	.	.	.	.	.	.	.	.	C	11.65	1.701121	0.30142	.	.	ENSG00000164764	ENST00000297354	T	0.22539	1.95	5.29	4.41	0.53225	.	0.871127	0.10407	N	0.678383	T	0.15262	0.0368	N	0.16567	0.415	0.26193	N	0.979559	B	0.21753	0.06	B	0.20767	0.031	T	0.23976	-1.0173	10	0.24483	T	0.36	-13.8644	13.7258	0.62756	0.0:0.9253:0.0:0.0747	.	88	Q8IVN8	RPESP_HUMAN	N	88	ENSP00000297354:D88N	ENSP00000297354:D88N	D	-	1	0	C8orf84	74155955	0.108000	0.22018	0.337000	0.25536	0.641000	0.38312	1.588000	0.36633	1.229000	0.43630	0.591000	0.81541	GAC	-	HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat		0.642	SBSPON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf84	protein_coding	OTTHUMT00000347584.2	C	NM_153225		74155955	-1	no_errors	NM_153225.3	genbank	human	validated	54_36p	missense	SNP	0.085	T	T	73993401	C	T	73993401	3	4	190	1	0	0	0	0	1	0	0	0	2440	913	32	2	548	2	C8orf84	8	73993401	Missense_Mutation	SNP	C	TCGA-AB-3008-03A-01D-0739-09		73993401	72370621	3	2147											
RSRC2	65117	genome.wustl.edu	37	12	123001816	123001816	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3008-03A-01D-0739-09	TCGA-AB-3008-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	21eeb895-fd30-4e1b-914e-f5b37df7d76c	f4101358-99f4-4e2d-9203-df902712e354	g.chr12:123001816C>G	ENST00000331738.7	-	5	705	c.560G>C	c.(559-561)aGg>aCg	p.R187T	RSRC2_ENST00000354654.2_Missense_Mutation_p.R139T	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	187	Ser-rich.						poly(A) RNA binding (GO:0044822)	p.R187T(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		AGTCCTATGCCTGTGTCTTGA	0.468																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12											224	185	198					12																	123001816		2203	4300	6503	121567769	SO:0001583	missense	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.560G>C	12.37:g.123001816C>G	ENSP00000330188:p.Arg187Thr	305	29.4	127		59	53.17	67	121567769	356	48.63	337	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.R187T	ENST00000331738.7	37	c.560	CCDS31920.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.26|18.26	3.584881|3.584881	0.65992|0.65992	.|.	.|.	ENSG00000111011|ENSG00000111011	ENST00000526560|ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T|T;T;T	0.60171|0.24538	0.21|2.18;1.85;1.85	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.042427	.|0.85682	.|D	.|0.000000	T|T	0.17152|0.17152	0.0412|0.0412	N|N	0.24115|0.24115	0.695|0.695	0.46954|0.46954	D|D	0.999268|0.999268	.|P;P;P;B	.|0.36535	.|0.557;0.557;0.557;0.403	.|B;B;B;B	.|0.32864	.|0.154;0.083;0.154;0.083	T|T	0.03566|0.03566	-1.1024|-1.1024	7|10	0.87932|0.44086	D|T	0|0.13	.|.	12.668|12.668	0.56853|0.56853	0.0:0.9247:0.0:0.0753|0.0:0.9247:0.0:0.0753	.|.	.|187;139;187;128	.|F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.|.;.;RSRC2_HUMAN;.	R|T	81|187;139;187;128	ENSP00000446470:G81R|ENSP00000330188:R187T;ENSP00000346678:R139T;ENSP00000343315:R128T	ENSP00000446470:G81R|ENSP00000330188:R187T	G|R	-|-	1|2	0|0	RSRC2|RSRC2	121567769|121567769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.163000|4.163000	0.58183|0.58183	2.589000|2.589000	0.87451|0.87451	0.655000|0.655000	0.94253|0.94253	GGC|AGG	-	NULL		0.468	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	protein_coding	OTTHUMT00000395096.3	C	NM_023012		121567769	-1	no_errors	NM_023012.4	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	123001816	C	G	123001816	3	3	190	1	0	0	0	0	1	0	0	0	13715	681	24	4	768	4	RSRC2	12	123001816	Missense_Mutation	SNP	C	TCGA-AB-3008-03A-01D-0739-09		123001816	10850079	4	2148											
CEBPA	1050	genome.wustl.edu	37	19	33792408	33792409	+	In_Frame_Ins	INS	-	-	CAA			TCGA-AB-3008-03A-01D-0739-09	TCGA-AB-3008-11A-01D-0739-09	-	-	-	CAA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	21eeb895-fd30-4e1b-914e-f5b37df7d76c	f4101358-99f4-4e2d-9203-df902712e354	g.chr19:33792408_33792409insCAA	ENST00000498907.2	-	1	1061_1062	c.912_913insTTG	c.(910-915)aagcag>aagTTGcag	p.304_305KQ>KLQ	CTD-2540B15.7_ENST00000587312.1_RNA|CTD-2540B15.11_ENST00000589932.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	304	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K304_Q305insL(16)|p.K304_Q305insK(3)|p.H200_K352>Q(1)|p.A303_K304del(1)|p.?(1)|p.A303_Q305del(1)|p.Q305*(1)|p.Q305_T310del(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					ACGTTGCGCTGCTTGGCCTTGT	0.639			"Mis, N, F"		"AML, MDS"				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																													dbGAP		Dom	yes		19	19q13.1	1050	"CCAAT/enhancer binding protein (C/EBP), alpha"		L	25	Insertion - In frame(19)|Deletion - In frame(3)|Unknown(1)|Complex - deletion inframe(1)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(25)	19																																								38484249	SO:0001652	inframe_insertion	0	Familial Cancer Database	Familial AML	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"basic leucine zipper proteins"	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.912_913insTTG	19.37:g.33792408_33792409insCAA	ENSP00000427514:p.Lys304_Gln305insLeu	63	12.5	9		387	43.5	298	38484248	122	25.61	42	A7LNP2|P78319|Q05CA4	In_Frame_Ins	INS	HMMSmart_BRLZ,PatternScan_BZIP_BASIC,HMMPfam_bZIP_2	p.304in_frame_insL	ENST00000498907.2	37	c.913_912	CCDS54243.1	19																																																																																			-	HMMSmart_BRLZ,HMMPfam_bZIP_2		0.639	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPA	protein_coding	OTTHUMT00000365012.1	-	NM_004364		38484249	-1	no_errors	NM_004364.3	genbank	human	reviewed	54_36p	in_frame_ins	INS	1.000:1.000	CAA	CAA	33792409	-	CAA	33792408	7	5	190	1	0	1	1	0	0	0	0	0	3199	1328	46	0	167	0	CEBPA	19	33792408	In_Frame_Ins	INS	-	TCGA-AB-3008-03A-01D-0739-09		33792408	25336575	5	2149											
SV2A	9900	genome.wustl.edu	37	1	149877521	149877521	+	Silent	SNP	G	G	A	rs138258149	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr1:149877521G>A	ENST00000369146.3	-	12	2446	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	SV2A_ENST00000369145.1_Silent_p.I652I	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	652					cellular calcium ion homeostasis (GO:0006874)|neurotransmitter transport (GO:0006836)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane transporter activity (GO:0022857)	p.I652I(3)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGAGCAGAGCGATCATGGCCG	0.542													G|||	2	0.000399361	8e-04	0	5008	,	,		16093	0.001		0	False		,,,				2504	0					dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1						G		1,4405	2.1+/-5.4	0,1,2202	141	119	127		1956	-3.7	1	1	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SV2A	NM_014849.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		652/743	149877521	2,13004	2203	4300	6503	148144145	SO:0001819	synonymous_variant	0			AB018279	CCDS940.1	1q21.2	2008-02-05			ENSG00000159164	ENSG00000159164			20566	protein-coding gene	gene with protein product		185860				7681585, 10611374	Standard	NM_014849		Approved	SV2, KIAA0736	uc001etg.3	Q7L0J3	OTTHUMG00000012209	ENST00000369146.3:c.1956C>T	1.37:g.149877521G>A		4665	1.12	53		46	62.6	77	148144145	849	47.62	772	D3DUZ7|O94841|Q5QNX8|Q7Z3L6|Q8NBJ6|Q9BVZ9	Silent	SNP	PatternScan_SUGAR_TRANSPORT_2,HMMPfam_MFS_1,superfamily_MFS general substrate transporter	p.I652	ENST00000369146.3	37	c.1956	CCDS940.1	1																																																																																			-	HMMPfam_MFS_1,superfamily_MFS general substrate transporter		0.542	SV2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2A	protein_coding	OTTHUMT00000033754.1	G			148144145	-1	no_errors	NM_014849.3	genbank	human	validated	54_36p	silent	SNP	0.996	A	A	149877521	G	A	149877521	2	1	191	1	0	0	0	0	0	0	0	1	15414	1048	37	1		1	SV2A	1	149877521	Silent	SNP	G	TCGA-AB-3009-03A-01D-0739-09		149877521	99373100	1	2150											
NMNAT2	23057	genome.wustl.edu	37	1	183221856	183221856	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr1:183221856C>T	ENST00000287713.6	-	11	1178	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	NMNAT2_ENST00000294868.4_Missense_Mutation_p.G277S	NM_015039.3	NP_055854.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2	282					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|late endosome (GO:0005770)|synapse (GO:0045202)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)	p.G282S(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						ACAACATGGCCGTCCCCATGC	0.582																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1											136	113	121					1																	183221856		2203	4300	6503	181488479	SO:0001583	missense	0			AF288395	CCDS1353.1, CCDS1354.1	1q25	2008-02-05	2003-04-30	2003-05-02	ENSG00000157064	ENSG00000157064			16789	protein-coding gene	gene with protein product		608701	"chromosome 1 open reading frame 15"	C1orf15		11318611, 12359228	Standard	NM_015039		Approved	KIAA0479, PNAT2	uc001gqc.2	Q9BZQ4	OTTHUMG00000035519	ENST00000287713.6:c.844G>A	1.37:g.183221856C>T	ENSP00000287713:p.Gly282Ser	1606	0.43	7					181488479	741	43.78	577	O75067|Q5T1Q3|Q8WU99|Q96QW1	Missense_Mutation	SNP	HMMPfam_CTP_transf_2,superfamily_Nucleotidylyl transferase	p.G282S	ENST00000287713.6	37	c.844	CCDS1353.1	1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185821	0.57909	.	.	ENSG00000157064	ENST00000287713;ENST00000294868	D;D	0.97186	-4.28;-4.14	5.58	4.65	0.58169	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.048633	0.85682	D	0.000000	D	0.95076	0.8405	N	0.08118	0	0.58432	D	0.999999	P;D	0.89917	0.929;1.0	B;D	0.91635	0.138;0.999	D	0.91416	0.5155	10	0.02654	T	1	-20.1782	15.9859	0.80151	0.0:0.8647:0.1353:0.0	.	282;277	Q9BZQ4;Q9BZQ4-2	NMNA2_HUMAN;.	S	282;277	ENSP00000287713:G282S;ENSP00000294868:G277S	ENSP00000287713:G282S	G	-	1	0	NMNAT2	181488479	1.000000	0.71417	0.873000	0.34254	0.972000	0.66771	7.496000	0.81526	1.314000	0.45095	0.650000	0.86243	GGC	-	superfamily_Nucleotidylyl transferase		0.582	NMNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMNAT2	protein_coding	OTTHUMT00000086255.1	C			181488479	-1	no_errors	NM_015039.2	genbank	human	reviewed	54_36p	missense	SNP	0.996	T	T	183221856	C	T	183221856	3	4	191	1	0	0	0	0	1	0	0	0	10499	652	23	1	83	1	NMNAT2	1	183221856	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	33344335	183221856	66028765	2	2151											
KCNT2	343450	genome.wustl.edu	37	1	196197412	196197412	+	Missense_Mutation	SNP	C	C	T	rs371191323		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr1:196197412C>T	ENST00000294725.9	-	28	4265	c.3350G>A	c.(3349-3351)cGa>cAa	p.R1117Q	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R1093Q|KCNT2_ENST00000609185.1_Missense_Mutation_p.R1050Q|KCNT2_ENST00000367431.4_Missense_Mutation_p.R1051Q|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1117					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R1117Q(3)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTGTTTCTTCGACTGGGCTC	0.363													C|||	1	0.000199681	8e-04	0	5008	,	,		16251	0		0	False		,,,				2504	0					dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	1						C	GLN/ARG	0,4406		0,0,2203	74	73	74		3350	4.7	0.3	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense	KCNT2	NM_198503.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1117/1136	196197412	1,13005	2203	4300	6503	194464035	SO:0001583	missense	0			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"Potassium channels", "Voltage-gated ion channels / Potassium channels, calcium-activated"	18866	protein-coding gene	gene with protein product	"sodium and chloride activated ATP sensitive potassium channel"	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3350G>A	1.37:g.196197412C>T	ENSP00000294725:p.Arg1117Gln	610	1.29449838187702	8					194464035	255	46.3157894736842	220	Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	HMMPfam_BK_channel_a,HMMPfam_Ion_trans_2,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Voltage-gated potassium channels	p.R1117Q	ENST00000294725.9	37	c.3350	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094212	0.36952	0.0	1.16E-4	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.22336	1.96;1.97;2.21	5.62	4.71	0.59529	.	0.123342	0.36101	N	0.002783	T	0.17789	0.0427	L	0.44542	1.39	0.80722	D	1	P;P;P	0.43314	0.803;0.474;0.687	B;B;B	0.34452	0.183;0.077;0.048	T	0.02232	-1.1191	10	0.52906	T	0.07	-8.702	14.2013	0.65707	0.0:0.9272:0.0:0.0728	.	1093;1050;1117	Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;KCNT2_HUMAN	Q	1093;1051;1117	ENSP00000356403:R1093Q;ENSP00000356401:R1051Q;ENSP00000294725:R1117Q	ENSP00000294725:R1117Q	R	-	2	0	KCNT2	194464035	0.999000	0.42202	0.298000	0.25002	0.314000	0.28054	2.014000	0.40951	1.379000	0.46325	0.585000	0.79938	CGA	-	NULL		0.363	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	protein_coding	OTTHUMT00000086418.2	C	NM_198503		194464035	-1	no_errors	NM_198503.2	genbank	human	validated	54_36p	missense	SNP	0.822	T	T	196197412	C	T	196197412	3	4	191	1	0	0	0	0	1	0	0	0	8092	884	31	1	61	1	KCNT2	1	196197412	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	12975556	196197412	53053209	3	2152											
NAV1	89796	genome.wustl.edu	37	1	201618123	201618123	+	Silent	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr1:201618123C>T	ENST00000367296.4	+	1	747	c.327C>T	c.(325-327)ccC>ccT	p.P109P	NAV1_ENST00000295624.6_Silent_p.P109P|NAV1_ENST00000367302.1_Silent_p.P122P|NAV1_ENST00000367297.4_Silent_p.P109P|NAV1_ENST00000367300.3_Silent_p.P109P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	109					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.P109P(3)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTTATGAGCCCGAATGGAGCG	0.607																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	1											43	42	42					1																	201618123		2203	4300	6503	199884746	SO:0001819	synonymous_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"neuron navigator-1", "pore membrane and/or filament interacting like protein 3"	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.327C>T	1.37:g.201618123C>T		790	1.61892901618929	13		1	66.67	2	199884746	347	43.3006535947712	265	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	HMMSmart_AAA,PatternScan_PPASE,superfamily_SSF52540	p.P109	ENST00000367296.4	37	c.327	CCDS1414.2	1																																																																																			-	NULL		0.607	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	protein_coding	OTTHUMT00000087013.1	C	NM_020443		199884746	1	no_errors	NM_020443.3	genbank	human	reviewed	54_36p	silent	SNP	0.689	T	T	201618123	C	T	201618123	2	4	191	1	0	0	0	0	0	0	0	1	10183	639	23	1		1	NAV1	1	201618123	Silent	SNP	C	TCGA-AB-3009-03A-01D-0739-09	5420711	201618123	47632498	4	2153											
ABCB11	8647	genome.wustl.edu	37	2	169780250	169780250	+	Missense_Mutation	SNP	G	G	A	rs372886308		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr2:169780250G>A	ENST00000263817.6	-	28	3972	c.3848C>T	c.(3847-3849)gCg>gTg	p.A1283V		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1283	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|canalicular bile acid transport (GO:0015722)|small molecule metabolic process (GO:0044281)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|bile acid-exporting ATPase activity (GO:0015432)|canalicular bile acid transmembrane transporter activity (GO:0015126)|sodium-exporting ATPase activity, phosphorylative mechanism (GO:0008554)|transporter activity (GO:0005215)	p.A1283V(3)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Chlorpromazine(DB00477)|Cimetidine(DB00501)|Clofazimine(DB00845)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Digoxin(DB00390)|Doxorubicin(DB00997)|Ethinyl Estradiol(DB00977)|Fluorescein(DB00693)|Fusidic Acid(DB02703)|Glyburide(DB01016)|Ketoconazole(DB01026)|Novobiocin(DB01051)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Ponatinib(DB08901)|Pravastatin(DB00175)|Progesterone(DB00396)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Tamoxifen(DB00675)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AATGATATCCGCGTTCTGGAT	0.517																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	2						G	VAL/ALA	2,4238		0,2,2118	140	140	140		3848	5.9	1	2		140	0,8522		0,0,4261	no	missense	ABCB11	NM_003742.2	64	0,2,6379	AA,AG,GG		0.0,0.0472,0.0157	benign	1283/1322	169780250	2,12760	2120	4261	6381	169488496	SO:0001583	missense	0			AF091582	CCDS46444.1	2q24	2012-03-14			ENSG00000073734	ENSG00000073734		"ATP binding cassette transporters / subfamily B"	42	protein-coding gene	gene with protein product	"ABC member 16, MDR/TAP subfamily"	603201	"progressive familial intrahepatic cholestasis 2", "bile salt export pump"	BSEP, PFIC2		9806540	Standard	NM_003742		Approved	ABC16, SPGP, PFIC-2, PGY4	uc002ueo.1	O95342	OTTHUMG00000154039	ENST00000263817.6:c.3848C>T	2.37:g.169780250G>A	ENSP00000263817:p.Ala1283Val	813	1.21506682867558	10					169488496	324	46.9721767594108	287	Q53TL2|Q9UNB2	Missense_Mutation	SNP	HMMPfam_ABC_membrane,HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_Multidrug resistance ABC transporter MsbA N-terminal domain,PatternScan_ABC_TRANSPORTER_1,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.A1283V	ENST00000263817.6	37	c.3848	CCDS46444.1	2	.	.	.	.	.	.	.	.	.	.	G	35	5.458374	0.96240	4.72E-4	0.0	ENSG00000073734	ENST00000263817	D	0.85773	-2.03	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.168458	0.53938	D	0.000046	D	0.88887	0.6559	M	0.72479	2.2	0.49483	D	0.999799	D;P	0.54047	0.964;0.695	P;B	0.48921	0.595;0.311	D	0.89701	0.3905	10	0.87932	D	0	.	20.2433	0.98387	0.0:0.0:1.0:0.0	.	701;1283	B4DZQ8;O95342	.;ABCBB_HUMAN	V	1283	ENSP00000263817:A1283V	ENSP00000263817:A1283V	A	-	2	0	ABCB11	169488496	1.000000	0.71417	0.961000	0.40146	0.966000	0.64601	9.869000	0.99810	2.784000	0.95788	0.650000	0.86243	GCG	-	HMMPfam_ABC_tran,HMMSmart_SM00382,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.517	ABCB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB11	protein_coding	OTTHUMT00000333616.2	G	NM_003742		169488496	-1	no_errors	NM_003742.2	genbank	human	reviewed	54_36p	missense	SNP	0.982	A	A	169780250	G	A	169780250	3	1	191	1	0	0	0	0	1	0	0	0	42	1087	38	1	121	1	ABCB11	2	169780250	Missense_Mutation	SNP	G	TCGA-AB-3009-03A-01D-0739-09		169780250	73419123	5	2154											
TTN	7273	genome.wustl.edu	37	2	179472757	179472758	+	In_Frame_Ins	INS	-	-	GAC			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	GAC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr2:179472757_179472758insGAC	ENST00000591111.1	-	226	48057_48058	c.47833_47834insGTC	c.(47833-47835)att>aGTCtt	p.15945_15945I>SL	TTN_ENST00000342175.6_In_Frame_Ins_p.8713_8713I>SL|TTN_ENST00000359218.5_In_Frame_Ins_p.8646_8646I>SL|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_In_Frame_Ins_p.17586_17586I>SL|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_In_Frame_Ins_p.8521_8521I>SL|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_In_Frame_Ins_p.15018_15018I>SL|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15945	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.I15018>SL(3)|p.I8713>SL(3)|p.I8521>SL(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTAGTTCAATAGTTGTAGAG	0.441																																						dbGAP											9	Complex - insertion inframe(9)	haematopoietic_and_lymphoid_tissue(9)	2																																								179181003	SO:0001652	inframe_insertion	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / Immunoglobulin-like domain containing", "Fibronectin type III domain containing"	12403	protein-coding gene	gene with protein product		188840	"cardiomyopathy, dilated 1G (autosomal dominant)"	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.47833_47834insGTC	2.37:g.179472757_179472758insGAC	ENSP00000465570:p.Ile15945delinsSerLeu	978	0.71	7		11	0	0	179181002	411	40.95	285	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	In_Frame_Ins	INS	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_IG_MHC,HMMSmart_SM00406,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_PPAK,PatternScan_PROTEIN_KINASE_TYR,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Protein kinase-like (PK-like),superfamily_WD40 repeat-like,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,HMMPfam_Pkinase,PatternScan_FGGY_KINASES_1,PatternScan_PEROXIDASE_1,superfamily_Immunoglobulin,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses	p.I13568in_frame_insSL	ENST00000591111.1	37	c.40703_40702		2																																																																																			-	HMMPfam_fn3,HMMSmart_SM00060,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_WD40 repeat-like,superfamily_vWA-like,superfamily_Positive stranded ssRNA viruses		0.441	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	-	NM_133378		179181003	-1	no_errors	ENST00000375038	ensembl	human	known	54_36p	in_frame_ins	INS	1.000:1.000	GAC	GAC	179472758	-	GAC	179472757	7	5	191	1	0	1	1	0	0	0	0	0	16732	101	4	0	55284	0	TTN	2	179472757	In_Frame_Ins	INS	-	TCGA-AB-3009-03A-01D-0739-09	9692507	179472757	63726616	6	2155											
BRPF1	7862	genome.wustl.edu	37	3	9786731	9786731	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr3:9786731T>C	ENST00000457855.1	+	9	2953	c.2942T>C	c.(2941-2943)gTg>gCg	p.V981A	BRPF1_ENST00000424362.1_Missense_Mutation_p.V980A|BRPF1_ENST00000383829.2_Missense_Mutation_p.V987A|BRPF1_ENST00000302054.3_Missense_Mutation_p.V981A|BRPF1_ENST00000433861.2_Missense_Mutation_p.V886A			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	981	Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.V987A(3)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					AACCAACCAGTGAAGAAGAGT	0.532																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	3											114	95	101					3																	9786731		2203	4300	6503	9761731	SO:0001583	missense	0			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"peregrin", "bromodomain-containing protein, 140kD"	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.2942T>C	3.37:g.9786731T>C	ENSP00000410210:p.Val981Ala	1044	0.19	2		32	48.39	30	9761731	291	40.85	203	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	HMMPfam_PWWP,HMMSmart_PWWP,HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMSmart_PHD,PatternScan_ZINC_FINGER_C2H2_1,superfamily_FYVE_PHD_ZnF,HMMSmart_ZnF_C2H2,HMMPfam_EPL1,PatternScan_ZF_PHD_1,HMMPfam_PHD,superfamily_SSF63748	p.V987A	ENST00000457855.1	37	c.2960	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	T	7.642	0.681103	0.14907	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.15718	2.4;2.41;3.8;2.41;2.41	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.16685	0.0401	L	0.53249	1.67	0.54753	D	0.999989	B;B;B;B	0.31817	0.341;0.135;0.135;0.039	B;B;B;B	0.28139	0.086;0.025;0.06;0.011	T	0.03981	-1.0987	10	0.08837	T	0.75	.	15.827	0.78718	0.0:0.0:0.0:1.0	.	886;980;987;981	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	A	886;980;987;981;981	ENSP00000402485:V886A;ENSP00000398863:V980A;ENSP00000373340:V987A;ENSP00000306297:V981A;ENSP00000410210:V981A	ENSP00000306297:V981A	V	+	2	0	BRPF1	9761731	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.816000	0.69222	2.129000	0.65627	0.533000	0.62120	GTG	-	NULL		0.532	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	protein_coding	OTTHUMT00000338485.1	T	NM_001003694		9761731	1	no_errors	NM_001003694.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	C	C	9786731	T	C	9786731	3	2	191	1	0	0	0	0	1	0	0	0	1520	1696	59	3	2994	3	BRPF1	3	9786731	Missense_Mutation	SNP	T	TCGA-AB-3009-03A-01D-0739-09		9786731	188235699	7	2156											
GNAI2	2771	genome.wustl.edu	37	3	50293695	50293695	+	Missense_Mutation	SNP	G	G	A	rs137853227		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr3:50293695G>A	ENST00000313601.6	+	5	920	c.536G>A	c.(535-537)cGc>cAc	p.R179H	GNAI2_ENST00000451956.1_Missense_Mutation_p.R142H|GNAI2_ENST00000536647.1_Missense_Mutation_p.R98H|GNAI2_ENST00000422163.1_Missense_Mutation_p.R163H|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Missense_Mutation_p.R127H|GNAI2_ENST00000266027.5_Missense_Mutation_p.R163H	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	179					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R179H(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTACGGACCCGCGTAAAGACC	0.592																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	3											124	95	105					3																	50293695		2203	4300	6503	50268699	SO:0001583	missense	0			X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"GTP-binding regulatory protein Gi alpha-2 chain"	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.536G>A	3.37:g.50293695G>A	ENSP00000312999:p.Arg179His	621	0.321027287319422	2		510	29.46	213	50268699	310	23.2673267326733	94	B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Missense_Mutation	SNP	HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.R179H	ENST00000313601.6	37	c.536	CCDS2813.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.374694	0.95923	.	.	ENSG00000114353	ENST00000422163;ENST00000313601;ENST00000536647;ENST00000540560;ENST00000440628;ENST00000451956;ENST00000266027	T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.0	5.0	0.66597	G protein alpha subunit, helical insertion (1);	0.056274	0.64402	D	0.000001	D	0.88474	0.6446	H	0.99498	4.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93163	0.6559	10	0.87932	D	0	.	16.6101	0.84880	0.0:0.0:1.0:0.0	.	142;179;163;163	B4DYA0;P04899;B3KTZ0;P04899-2	.;GNAI2_HUMAN;.;.	H	163;179;98;179;127;142;163	ENSP00000406871:R163H;ENSP00000312999:R179H;ENSP00000444360:R98H;ENSP00000395736:R127H;ENSP00000406369:R142H;ENSP00000266027:R163H	ENSP00000266027:R163H	R	+	2	0	GNAI2	50268699	1.000000	0.71417	0.952000	0.39060	0.931000	0.56810	9.752000	0.98900	2.713000	0.92767	0.655000	0.94253	CGC	-	HMMPfam_G-alpha,superfamily_Transducin (alpha subunit) insertion domain,HMMSmart_SM00275,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.592	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAI2	protein_coding	OTTHUMT00000346688.1	G	NM_002070		50268699	1	no_errors	NM_002070.2	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	50293695	G	A	50293695	3	1	191	1	0	0	0	0	1	0	0	0	6505	1087	38	1	565	1	GNAI2	3	50293695	Missense_Mutation	SNP	G	TCGA-AB-3009-03A-01D-0739-09	40506964	50293695	147728735	8	2157											
DAXX	1616	genome.wustl.edu	37	6	33288297	33288297	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:33288297G>A	ENST00000374542.5	-	4	1315	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	DAXX_ENST00000266000.6_Missense_Mutation_p.R371W|ZBTB22_ENST00000431845.2_5'Flank|DAXX_ENST00000477162.1_5'UTR|ZBTB22_ENST00000418724.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.R296W	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	371	Interaction with histone H3.3.|Necessary for interaction with USP7.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.R371W(3)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCATCCAGCCGACTCATGGCC	0.532			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM																																	dbGAP		Rec	yes		6	6p21.3	1616	death-domain associated protein		E	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											77	74	75					6																	33288297		2203	4300	6503	33396275	SO:0001583	missense	0			AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"death-associated protein 6"			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1111C>T	6.37:g.33288297G>A	ENSP00000363668:p.Arg371Trp	1578	1.68	27		19	55.81	24	33396275	303	39.64	199	B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	HMMPfam_Daxx	p.R371W	ENST00000374542.5	37	c.1111	CCDS4776.1	6	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109098	0.56398	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.56	3.68	0.42216	.	0.119337	0.56097	D	0.000022	T	0.70090	0.3184	M	0.74258	2.255	0.39835	D	0.973028	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.979;0.991;0.991	T	0.75371	-0.3341	9	0.87932	D	0	-5.7236	11.6553	0.51315	0.0:0.0:0.8211:0.1789	.	383;371;371	B4E1C1;B2R7M0;Q9UER7	.;.;DAXX_HUMAN	W	371;371;296	.	ENSP00000266000:R371W	R	-	1	2	DAXX	33396275	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.659000	0.46741	1.130000	0.42092	-0.195000	0.12781	CGG	-	HMMPfam_Daxx		0.532	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAXX	protein_coding	OTTHUMT00000076403.1	G			33396275	-1	no_errors	NM_001350.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	33288297	G	A	33288297	3	1	191	1	0	0	0	0	1	0	0	0	4243	1057	37	1	1131	1	DAXX	6	33288297	Missense_Mutation	SNP	G	TCGA-AB-3009-03A-01D-0739-09		33288297	137826770	9	2158											
DAAM2	23500	genome.wustl.edu	37	6	39869234	39869234	+	Missense_Mutation	SNP	C	C	T	rs368619961	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:39869234C>T	ENST00000398904.2	+	24	3150	c.2968C>T	c.(2968-2970)Cgc>Tgc	p.R990C	DAAM2_ENST00000274867.4_Missense_Mutation_p.R990C|DAAM2_ENST00000538976.1_Missense_Mutation_p.R989C|RP11-61I13.3_ENST00000437947.1_RNA			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	990	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)			p.R989C(3)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCGGCGGGCGCGCATGGAAGC	0.622													C|||	3	0.000599042	0.0015	0	5008	,	,		14261	0		0.001	False		,,,				2504	0					dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6						C	CYS/ARG,CYS/ARG	0,4074		0,0,2037	28	31	30		2968,2965	5.2	1	6		30	1,8341		0,1,4170	no	missense,missense	DAAM2	NM_001201427.1,NM_015345.3	180,180	0,1,6207	TT,TC,CC		0.012,0.0,0.0081	possibly-damaging,possibly-damaging	990/1069,989/1068	39869234	1,12415	2037	4171	6208	39977212	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.2968C>T	6.37:g.39869234C>T	ENSP00000381876:p.Arg990Cys	709	1.51	11					39977212	235	47.03	214	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	HMMSmart_SM00498,HMMPfam_Drf_FH3,HMMPfam_Drf_GBD,HMMPfam_FH2,superfamily_Formin homology 2 domain (FH2 domain)	p.R989C	ENST00000398904.2	37	c.2965	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940565	0.73557	0.0	1.2E-4	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.81739	-1.52;-1.52;-1.53	5.17	5.17	0.71159	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (1);	0.208599	0.42053	D	0.000768	T	0.79862	0.4519	M	0.83118	2.625	0.80722	D	1	P;P	0.47545	0.897;0.688	B;B	0.41440	0.357;0.09	D	0.84864	0.0821	10	0.72032	D	0.01	.	18.6645	0.91485	0.0:1.0:0.0:0.0	.	989;990	G5EA45;Q86T65	.;DAAM2_HUMAN	C	990;990;989	ENSP00000274867:R990C;ENSP00000381876:R990C;ENSP00000437808:R989C	ENSP00000274867:R990C	R	+	1	0	DAAM2	39977212	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	4.711000	0.61881	2.578000	0.87016	0.655000	0.94253	CGC	-	HMMSmart_SM00498		0.622	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	protein_coding	OTTHUMT00000280648.1	C			39977212	1	no_errors	NM_015345.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	39869234	C	T	39869234	3	4	191	1	0	0	0	0	1	0	0	0	4216	768	27	1	3055	1	DAAM2	6	39869234	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	6580937	39869234	131245833	10	2159											
COL12A1	1303	genome.wustl.edu	37	6	75860981	75860981	+	Silent	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:75860981G>A	ENST00000322507.8	-	21	4332	c.4023C>T	c.(4021-4023)gtC>gtT	p.V1341V	COL12A1_ENST00000483888.2_Silent_p.V1341V|COL12A1_ENST00000416123.2_Silent_p.V1341V|COL12A1_ENST00000345356.6_Silent_p.V177V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1341	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.V1341V(3)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTTTAATTCGACTTCATCAG	0.338																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	6											132	133	132					6																	75860981		1864	4103	5967	75917701	SO:0001819	synonymous_variant	0			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"Proteoglycans / Extracellular Matrix : Collagen proteoglycans", "Collagens", "Fibronectin type III domain containing"	2188	protein-coding gene	gene with protein product	"collagen type XII proteoglycan"	120320	"collagen, type XII, alpha 1-like"	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.4023C>T	6.37:g.75860981G>A		628	0.475435816164818	3		1	0	0	75917701	210	38.7755102040816	133	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	HMMPfam_VWA,HMMSmart_SM00327,HMMSmart_SM00210,HMMPfam_fn3,HMMSmart_SM00060,HMMPfam_Collagen,superfamily_Fibronectin type III,superfamily_Concanavalin A-like lectins/glucanases,superfamily_vWA-like	p.V1341	ENST00000322507.8	37	c.4023	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	5.514	0.279735	0.10458	.	.	ENSG00000111799	ENST00000419671	.	.	.	5.59	-0.926	0.10455	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4534	0.44535	0.7165:0.0:0.2835:0.0	.	.	.	.	X	83	.	.	R	-	1	2	COL12A1	75917701	0.998000	0.40836	0.248000	0.24265	0.781000	0.44180	0.886000	0.28241	-0.137000	0.11455	-0.897000	0.02905	CGA	-	HMMPfam_VWA,HMMSmart_SM00327,superfamily_vWA-like		0.338	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75917701	-1	no_errors	NM_004370.5	genbank	human	reviewed	54_36p	silent	SNP	0.459	A	A	75860981	G	A	75860981	2	1	191	1	0	0	0	0	0	0	0	1	3669	1045	37	1		1	COL12A1	6	75860981	Silent	SNP	G	TCGA-AB-3009-03A-01D-0739-09	35991747	75860981	95254086	11	2160											
GABRR1	2569	genome.wustl.edu	37	6	89891699	89891699	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:89891699C>T	ENST00000454853.2	-	8	984	c.874G>A	c.(874-876)Gct>Act	p.A292T	GABRR1_ENST00000435811.1_Missense_Mutation_p.A275T|GABRR1_ENST00000369451.3_Missense_Mutation_p.A205T	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	292					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A286T(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	ATCAGGGTAGCGGGGAAATAA	0.507																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											167	152	157					6																	89891699		2203	4300	6503	89948418	SO:0001583	missense	0				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"GABA receptors", "Ligand-gated ion channels / GABA(A) receptors"	4090	protein-coding gene	gene with protein product	"GABA(A) receptor, rho 1"	137161	"gamma-aminobutyric acid (GABA) receptor, rho 1"			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.874G>A	6.37:g.89891699C>T	ENSP00000412673:p.Ala292Thr	919	1.5	14		0	100	1	89948418	370	46.06	316	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_LBD,superfamily_Nicotinic receptor ligand binding domain-like,PatternScan_NEUROTR_ION_CHANNEL	p.A286T	ENST00000454853.2	37	c.856	CCDS5019.2	6	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710459	0.89018	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.85484	-1.99;-1.99;-1.99	5.49	5.49	0.81192	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.83968	0.5369	L	0.38649	1.16	0.80722	D	1	D;D	0.55385	0.964;0.971	P;P	0.56474	0.477;0.799	T	0.82317	-0.0517	9	.	.	.	-32.0355	19.3843	0.94550	0.0:1.0:0.0:0.0	.	275;292	P24046-2;P24046	.;GBRR1_HUMAN	T	292;275;205;205	ENSP00000412673:A292T;ENSP00000394687:A275T;ENSP00000358463:A205T	.	A	-	1	0	GABRR1	89948418	1.000000	0.71417	0.955000	0.39395	0.826000	0.46750	6.089000	0.71384	2.574000	0.86865	0.563000	0.77884	GCT	-	HMMPfam_Neur_chan_memb,superfamily_Neurotransmitter-gated ion-channel transmembrane pore		0.507	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRR1	protein_coding	OTTHUMT00000041479.2	C			89948418	-1	no_errors	NM_002042.3	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	89891699	C	T	89891699	3	4	191	1	0	0	0	0	1	0	0	0	6176	768	27	1	577	1	GABRR1	6	89891699	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	14030718	89891699	81223368	12	2161											
GPRC6A	222545	genome.wustl.edu	37	6	117127655	117127655	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:117127655C>A	ENST00000310357.3	-	3	1234	c.1213G>T	c.(1213-1215)Gac>Tac	p.D405Y	GPRC6A_ENST00000368549.3_Missense_Mutation_p.D405Y|GPRC6A_ENST00000530250.1_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	405					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D405Y(3)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCAGCATAGTCCCAGAGGAAG	0.448																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											122	108	113					6																	117127655		2203	4299	6502	117234348	SO:0001583	missense	0			AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"GPCR / Class C : Calcium-sensing receptors"	18510	protein-coding gene	gene with protein product			"G protein-coupled receptor, family C, group 6, member A"				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1213G>T	6.37:g.117127655C>A	ENSP00000309493:p.Asp405Tyr	999	1.19	12					117234348	493	46.82	434	Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	HMMPfam_ANF_receptor,HMMPfam_NCD3G,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_2,superfamily_Periplasmic binding protein-like I	p.D405Y	ENST00000310357.3	37	c.1213	CCDS5112.1	6	.	.	.	.	.	.	.	.	.	.	C	4.404	0.074673	0.08485	.	.	ENSG00000173612	ENST00000310357;ENST00000368549	D;D	0.88354	-2.37;-2.37	5.48	1.72	0.24424	Extracellular ligand-binding receptor (1);	0.243411	0.28436	N	0.015350	T	0.79458	0.4449	M	0.78049	2.395	0.25583	N	0.986774	B;B	0.28820	0.224;0.033	B;B	0.29353	0.101;0.02	T	0.74581	-0.3618	10	0.87932	D	0	.	7.3714	0.26804	0.0:0.6155:0.1584:0.2262	.	405;405	Q5T6X5-3;Q5T6X5	.;GPC6A_HUMAN	Y	405	ENSP00000309493:D405Y;ENSP00000357537:D405Y	ENSP00000309493:D405Y	D	-	1	0	GPRC6A	117234348	0.232000	0.23762	0.993000	0.49108	0.091000	0.18340	0.793000	0.26944	0.449000	0.26747	-0.142000	0.14014	GAC	-	HMMPfam_ANF_receptor,superfamily_Periplasmic binding protein-like I		0.448	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC6A	protein_coding	OTTHUMT00000041966.2	C			117234348	-1	no_errors	NM_148963.2	genbank	human	validated	54_36p	missense	SNP	0.004	A	A	117127655	C	A	117127655	3	1	191	1	0	0	0	0	1	0	0	0	6728	855	30	4	1583	4	GPRC6A	6	117127655	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	27235956	117127655	53987412	13	2162											
NCOA7	135112	genome.wustl.edu	37	6	126210950	126210950	+	Missense_Mutation	SNP	A	A	G			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	A	A	A	G	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr6:126210950A>G	ENST00000368357.3	+	10	2102	c.1750A>G	c.(1750-1752)Aaa>Gaa	p.K584E	NCOA7_ENST00000229634.9_Missense_Mutation_p.K469E|NCOA7_ENST00000392477.2_Missense_Mutation_p.K584E	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	584					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.K584E(3)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GACCTGGGTGAAAAAGGGAGA	0.463																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	6											53	57	56					6																	126210950		2203	4300	6503	126252643	SO:0001583	missense	0			AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"TBC/LysM-associated domain containing 4"	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1750A>G	6.37:g.126210950A>G	ENSP00000357341:p.Lys584Glu	656	1.79640718562874	12		11	38.89	7	126252643	222	46.1165048543689	190	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	HMMSmart_SM00257,HMMPfam_GRAM,HMMPfam_TLD,HMMSmart_SM00584,HMMPfam_LysM,superfamily_LysM domain	p.K584E	ENST00000368357.3	37	c.1750	CCDS5132.1	6	.	.	.	.	.	.	.	.	.	.	A	1.782	-0.481794	0.04383	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	5.56	5.56	0.83823	.	0.419874	0.22937	N	0.053823	T	0.07548	0.0190	L	0.27053	0.805	0.09310	N	0.999997	B;B;B	0.12630	0.006;0.004;0.002	B;B;B	0.12837	0.008;0.006;0.003	T	0.18903	-1.0322	10	0.16896	T	0.51	-11.4371	8.3652	0.32382	0.8838:0.0:0.1162:0.0	.	573;573;584	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	E	584;584;469;382	ENSP00000357341:K584E;ENSP00000376269:K584E;ENSP00000229634:K469E;ENSP00000389186:K382E	ENSP00000229634:K469E	K	+	1	0	NCOA7	126252643	0.147000	0.22687	0.137000	0.22149	0.093000	0.18481	0.925000	0.28791	2.125000	0.65367	0.533000	0.62120	AAA	-	NULL		0.463	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA7	protein_coding	OTTHUMT00000042083.4	A	XM_059748		126252643	1	no_errors	NM_181782.1	genbank	human	validated	54_36p	missense	SNP	0.014	G	G	126210950	A	G	126210950	3	3	191	1	0	0	0	0	1	0	0	0	10234	247	9	3	1780	3	NCOA7	6	126210950	Missense_Mutation	SNP	A	TCGA-AB-3009-03A-01D-0739-09	9083295	126210950	44904117	14	2163											
FZD1	8321	genome.wustl.edu	37	7	90895745	90895745	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr7:90895745G>A	ENST00000287934.2	+	1	1963	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	517					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.R517H(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TTCCGCATCCGCACCATCATG	0.602																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	7											151	131	138					7																	90895745		2203	4300	6503	90733681	SO:0001583	missense	0			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"GPCR / Class F : Frizzled receptors"	4038	protein-coding gene	gene with protein product	"Wnt receptor", "frizzled, Drosophila, homolog of, 1"	603408	"frizzled (Drosophila) homolog 1", "frizzled homolog 1 (Drosophila)", "frizzled 1, seven transmembrane spanning receptor", "frizzled family receptor 1"			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1550G>A	7.37:g.90895745G>A	ENSP00000287934:p.Arg517His	576	1.36986301369863	8		7	46.15	6	90733681	242	45.372460496614	201	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	superfamily_Frizzled cysteine-rich domain,HMMPfam_Frizzled,HMMPfam_Fz,HMMSmart_SM00063	p.R517H	ENST00000287934.2	37	c.1550	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	G	26.2	4.711646	0.89112	.	.	ENSG00000157240	ENST00000287934	D	0.85702	-2.02	4.79	4.79	0.61399	GPCR, family 2-like (1);	0.000000	0.64402	D	0.000009	D	0.93795	0.8016	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94910	0.8064	10	0.72032	D	0.01	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	517	Q9UP38	FZD1_HUMAN	H	517	ENSP00000287934:R517H	ENSP00000287934:R517H	R	+	2	0	FZD1	90733681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.577000	0.98196	2.491000	0.84063	0.655000	0.94253	CGC	-	HMMPfam_Frizzled		0.602	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	protein_coding	OTTHUMT00000059367.2	G	NM_003505		90733681	1	no_errors	NM_003505.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	90895745	G	A	90895745	3	1	191	1	0	0	0	0	1	0	0	0	6128	1087	38	1	1552	1	FZD1	7	90895745	Missense_Mutation	SNP	G	TCGA-AB-3009-03A-01D-0739-09		90895745	68242918	15	2164											
TSPYL5	85453	genome.wustl.edu	37	8	98288903	98288903	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:98288903C>A	ENST00000322128.3	-	1	1273	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	390					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.E390D(3)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					CCTTTCCTTTCTCTACACGAG	0.493																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											168	176	173					8																	98288903		2203	4300	6503	98358079	SO:0001583	missense	0			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.1170G>T	8.37:g.98288903C>A	ENSP00000322802:p.Glu390Asp	1485	0.74	11					98358079	406	46.08	347	B3KRF0|Q9C0B3	Missense_Mutation	SNP	HMMPfam_NAP	p.E390D	ENST00000322128.3	37	c.1170	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	C	7.086	0.571285	0.13623	.	.	ENSG00000180543	ENST00000322128	T	0.17054	2.3	4.53	2.76	0.32466	.	0.000000	0.33253	N	0.005105	T	0.08980	0.0222	N	0.24115	0.695	0.43207	D	0.99506	B	0.30824	0.296	B	0.26310	0.068	T	0.26916	-1.0089	10	0.20519	T	0.43	-11.7549	6.973	0.24658	0.0:0.7985:0.0:0.2015	.	390	Q86VY4	TSYL5_HUMAN	D	390	ENSP00000322802:E390D	ENSP00000322802:E390D	E	-	3	2	TSPYL5	98358079	0.993000	0.37304	0.989000	0.46669	0.352000	0.29268	0.307000	0.19296	0.862000	0.35528	0.655000	0.94253	GAG	-	HMMPfam_NAP		0.493	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	protein_coding	OTTHUMT00000380611.1	C	NM_033512		98358079	-1	no_errors	NM_033512.2	genbank	human	validated	54_36p	missense	SNP	0.998	A	A	98288903	C	A	98288903	3	1	191	1	0	0	0	0	1	0	0	0	16659	912	32	4	87	4	TSPYL5	8	98288903	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09		98288903	48075119	16	2165											
VPS13B	157680	genome.wustl.edu	37	8	100205130	100205130	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:100205130C>A	ENST00000358544.2	+	17	2471	c.2360C>A	c.(2359-2361)aCt>aAt	p.T787N	VPS13B_ENST00000395996.1_Missense_Mutation_p.T787N|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T787N|VPS13B_ENST00000355155.1_Missense_Mutation_p.T787N	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	787					protein transport (GO:0015031)			p.T787N(3)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGCTATAACTGAAGGTATA	0.348																																					Colon(161;2205 2542 7338 31318)	dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											118	112	114					8																	100205130		2203	4300	6503	100274306	SO:0001583	missense	0			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"Cohen syndrome 1"	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2360C>A	8.37:g.100205130C>A	ENSP00000351346:p.Thr787Asn	937	0.85	8		26	40.91	18	100274306	629	42.1	458	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	PatternScan_ZINC_PROTEASE	p.T787N	ENST00000358544.2	37	c.2360	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	13.36	2.215237	0.39102	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.79749	-1.3;-0.57;-0.57;-0.27	5.01	1.96	0.26148	.	0.175728	0.39544	N	0.001327	T	0.69142	0.3078	L	0.34521	1.04	0.34254	D	0.679164	B;B;B;B;B	0.20671	0.01;0.021;0.001;0.01;0.047	B;B;B;B;B	0.18263	0.009;0.013;0.002;0.009;0.021	T	0.69308	-0.5179	10	0.54805	T	0.06	.	10.1346	0.42699	0.3886:0.4857:0.1256:0.0	.	787;787;787;787;787	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	N	787	ENSP00000347281:T787N;ENSP00000349685:T787N;ENSP00000351346:T787N;ENSP00000379318:T787N	ENSP00000347281:T787N	T	+	2	0	VPS13B	100274306	1.000000	0.71417	0.987000	0.45799	0.989000	0.77384	1.903000	0.39858	0.450000	0.26774	0.460000	0.39030	ACT	-	NULL		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100274306	1	no_errors	NM_017890.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	100205130	C	A	100205130	3	1	191	1	0	0	0	0	1	0	0	0	17187	565	20	4	2464	4	VPS13B	8	100205130	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	1916227	100205130	46158892	17	2166											
TM7SF4	81501	genome.wustl.edu	37	8	105367321	105367321	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:105367321C>T	ENST00000297581.2	+	3	1295	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	416					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.R416C(3)									GGAGAGGAAGCGCATCCAATA	0.443																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											127	125	125					8																	105367321		2203	4300	6503	105436497	SO:0001583	missense	0			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"Dendritic cells (DC)-specific transmembrane protein", "IL-Four INDuced"	605933	"transmembrane 7 superfamily member 4"	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1246C>T	8.37:g.105367321C>T	ENSP00000297581:p.Arg416Cys	1265	0.39	5					105436497	294	49.05	284	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	HMMPfam_DC_STAMP	p.R416C	ENST00000297581.2	37	c.1246	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392170	0.42410	.	.	ENSG00000164935	ENST00000297581	T	0.78481	-1.18	5.44	3.47	0.39725	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.85682	D	0.000000	D	0.87386	0.6164	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89112	0.3497	10	0.87932	D	0	-17.4	13.2788	0.60202	0.2929:0.7071:0.0:0.0	.	416	Q9H295	TM7S4_HUMAN	C	416	ENSP00000297581:R416C	ENSP00000297581:R416C	R	+	1	0	TM7SF4	105436497	0.801000	0.28930	0.124000	0.21820	0.176000	0.22953	1.394000	0.34509	1.357000	0.45904	0.655000	0.94253	CGC	-	HMMPfam_DC_STAMP		0.443	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF4	protein_coding	OTTHUMT00000380810.1	C	NM_030788		105436497	1	no_errors	NM_030788.2	genbank	human	reviewed	54_36p	missense	SNP	0.698	T	T	105367321	C	T	105367321	3	4	191	1	0	0	0	0	1	0	0	0	15973	768	27	1	1252	1	TM7SF4	8	105367321	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	5162191	105367321	40996701	18	2167											
BAI1	575	genome.wustl.edu	37	8	143625648	143625648	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:143625648C>T	ENST00000517894.1	+	31	5519	c.4625C>T	c.(4624-4626)aCg>aTg	p.T1542M	BAI1_ENST00000323289.5_Missense_Mutation_p.T1542M			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1542	Necessary for interaction with MAGI1.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T1542M(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GGGACGCCCACGTGGGTGAAG	0.706																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											12	22	19					8																	143625648		1720	3552	5272	143622650	SO:0001583	missense	0			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"-", "GPCR / Class B : Orphans"	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.4625C>T	8.37:g.143625648C>T	ENSP00000430945:p.Thr1542Met	448	0.884955752212389	4		3	57.14	4	143622650	160	52.6627218934911	178		Missense_Mutation	SNP	HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMPfam_TSP_1,HMMSmart_SM00209,superfamily_TSP-1 type 1 repeat,HMMPfam_HRM,HMMSmart_SM00008	p.T1542M	ENST00000517894.1	37	c.4625		8	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323444	0.60634	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28069	1.63;1.63	4.32	4.32	0.51571	.	0.407181	0.21938	U	0.066928	T	0.18383	0.0441	N	0.08118	0	0.29981	N	0.817679	B	0.30870	0.298	B	0.28465	0.09	T	0.15954	-1.0419	10	0.62326	D	0.03	.	15.804	0.78477	0.0:1.0:0.0:0.0	.	1542	E9PBK0	.	M	1542	ENSP00000430945:T1542M;ENSP00000313046:T1542M	ENSP00000313046:T1542M	T	+	2	0	BAI1	143622650	0.939000	0.31865	0.822000	0.32727	0.996000	0.88848	7.137000	0.77295	1.950000	0.56595	0.561000	0.74099	ACG	-	NULL		0.706	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	protein_coding	OTTHUMT00000379963.3	C	NM_001702		143622650	1	no_errors	NM_001702.2	genbank	human	reviewed	54_36p	missense	SNP	0.068	T	T	143625648	C	T	143625648	3	4	191	1	0	0	0	0	1	0	0	0	1298	536	19	1	4743	1	BAI1	8	143625648	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	38258327	143625648	2738374	19	2168											
ARC	23237	genome.wustl.edu	37	8	143694874	143694874	+	Missense_Mutation	SNP	C	C	G			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:143694874C>G	ENST00000356613.2	-	1	1959	c.759G>C	c.(757-759)tgG>tgC	p.W253C	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.W253C(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				TGAACTCCCACCACTTCTTGG	0.607																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											41	43	42					8																	143694874		2201	4300	6501	143691876	SO:0001583	missense	0			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.759G>C	8.37:g.143694874C>G	ENSP00000349022:p.Trp253Cys	577	2.36886632825719	14		0	100	2	143691876	304	42.9643527204503	229	B4DFL0|O60937	Missense_Mutation	SNP	NULL	p.W253C	ENST00000356613.2	37	c.759	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305167	0.60305	.	.	ENSG00000198576	ENST00000356613	.	.	.	4.92	4.92	0.64577	.	0.000000	0.53938	U	0.000055	T	0.65228	0.2671	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70850	-0.4760	9	0.87932	D	0	.	17.0817	0.86600	0.0:1.0:0.0:0.0	.	253	Q7LC44	ARC_HUMAN	C	253	.	ENSP00000349022:W253C	W	-	3	0	ARC	143691876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.421000	0.44688	2.271000	0.75665	0.462000	0.41574	TGG	-	NULL		0.607	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	protein_coding	OTTHUMT00000259274.2	C			143691876	-1	no_errors	NM_015193.3	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	143694874	C	G	143694874	3	3	191	1	0	0	0	0	1	0	0	0	841	508	18	4	435	4	ARC	8	143694874	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	69226	143694874	2669148	20	2169											
NFKBIL2	4796	genome.wustl.edu	37	8	145668658	145668658	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr8:145668658G>A	ENST00000409379.3	-	4	340	c.311C>T	c.(310-312)aCg>aTg	p.T104M		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	104					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)	p.T104M(3)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGCAGCTCCGTGTGGTTGCG	0.622																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	8											90	95	93					8																	145668658		692	1591	2283	145639466	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"Ankyrin repeat domain containing"	7801	protein-coding gene	gene with protein product		604546	"nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.311C>T	8.37:g.145668658G>A	ENSP00000386239:p.Thr104Met	588	1.50753768844221	9		19	45.71	16	145639466	301	44.1558441558442	238	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,HMMSmart_SM00368,HMMSmart_SM00028,superfamily_TPR-like,superfamily_RNI-like	p.T104M	ENST00000409379.3	37	c.311	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	G	13.66	2.304083	0.40795	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.76709	-1.04	4.81	1.5	0.22942	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.60444	0.2269	N	0.14661	0.345	0.09310	N	1	P	0.51240	0.943	B	0.42692	0.395	T	0.51450	-0.8704	9	0.46703	T	0.11	.	7.0352	0.24989	0.3913:0.0:0.6087:0.0	.	104	Q96HA7	TONSL_HUMAN	M	104	ENSP00000386239:T104M	ENSP00000386239:T104M	T	-	2	0	TONSL	145639466	0.072000	0.21174	0.066000	0.19879	0.801000	0.45260	0.576000	0.23744	0.310000	0.22990	0.462000	0.41574	ACG	-	superfamily_TPR-like		0.622	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIL2	protein_coding	OTTHUMT00000329668.2	G	NM_013432		145639466	-1	no_errors	ENST00000409379	ensembl	human	known	54_36p	missense	SNP	0.004	A	A	145668658	G	A	145668658	3	1	191	1	0	0	0	0	1	0	0	0	10382	1145	40	1	3917	1	NFKBIL2	8	145668658	Missense_Mutation	SNP	G	TCGA-AB-3009-03A-01D-0739-09	1973784	145668658	695364	21	2170											
WAC	51322	genome.wustl.edu	37	10	28824670	28824671	+	Frame_Shift_Ins	INS	-	-	AGGGC			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	AGGGC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr10:28824670_28824671insAGGGC	ENST00000354911.4	+	3	419_420	c.258_259insAGGGC	c.(259-261)agafs	p.-87fs	WAC_ENST00000375646.1_Frame_Shift_Ins_p.-42fs|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_Frame_Shift_Ins_p.-42fs|WAC_ENST00000375664.4_Frame_Shift_Ins_p.-42fs|WAC_ENST00000347934.4_Frame_Shift_Ins_p.-87fs	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.E88fs*106(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTCACAGAGTTAGAGAGAGGGA	0.391																																						dbGAP											3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	10																																								28864677	SO:0001589	frameshift_variant	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"WW domain-containing adaptor with coiled coil"			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	Exception_encountered	10.37:g.28824670_28824671insAGGGC	ENSP00000346986:p.Arg87fs	902	1.52838427947598	14					28864676	308	48.4087102177554	289	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Frame_Shift_Ins	INS	HMMPfam_WW,HMMSmart_SM00456,PatternScan_WW_DOMAIN_1,superfamily_WW domain	p.E87fs	ENST00000354911.4	37	c.258_259	CCDS7159.1	10																																																																																			-	NULL		0.391	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	protein_coding	OTTHUMT00000047371.1	-	NM_100264		28864677	1	no_errors	NM_016628.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	AGGGC	AGGGC	28824671	-	AGGGC	28824670	7	5	191	1	0	1	1	0	0	0	0	0	17244	1741	61	0	268	0	WAC	10	28824670	Frame_Shift_Ins	INS	-	TCGA-AB-3009-03A-01D-0739-09		28824670	106710077	22	2171											
ANK3	288	genome.wustl.edu	37	10	61926581	61926581	+	Splice_Site	SNP	C	C	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr10:61926581C>A	ENST00000280772.2	-	22	2743		c.e22+1		ANK3_ENST00000503366.1_Splice_Site|ANK3_ENST00000373827.2_Splice_Site|ANK3_ENST00000460468.1_Splice_Site	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.?(3)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CATTTTCATACCTTCATCATC	0.318																																						dbGAP											3	Unknown(3)	haematopoietic_and_lymphoid_tissue(3)	10											154	145	148					10																	61926581		2202	4299	6501	61596587	SO:0001630	splice_region_variant	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"Ankyrin repeat domain containing"	494	protein-coding gene	gene with protein product	"ankyrin-3, node of Ranvier", "ankyrin-G"	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2551+1G>T	10.37:g.61926581C>A		1153	1.36869118905047	16		0	100	1	61596587	429	43.9947780678851	337	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Splice_Site	SNP	-	e22+1	ENST00000280772.2	37	c.2551+1	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516459	0.64634	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000536348;ENST00000460468;ENST00000474360	.	.	.	5.42	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4591	0.75339	0.14:0.86:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANK3	61596587	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.818000	0.86416	1.263000	0.44181	0.650000	0.86243	.	-	-		0.318	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	protein_coding	OTTHUMT00000048201.4	C	NM_020987	Intron	61596587	-1	no_errors	NM_020987.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A	A	61926581	C	A	61926581	5	1	191	1	0	0	0	0	0	0	1	0	622	521	18	4	11002	4	ANK3	10	61926581	Splice_Site	SNP	C	TCGA-AB-3009-03A-01D-0739-09	33101911	61926581	73608166	23	2172											
WT1	7490	genome.wustl.edu	37	11	32417909	32417910	+	Frame_Shift_Ins	INS	-	-	GACCG	rs377446096|rs142937387		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	GACCG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:32417909_32417910insGACCG	ENST00000379079.2	-	7	779_780	c.506_507insCGGTC	c.(505-507)tcgfs	p.-169fs	WT1_ENST00000530998.1_Frame_Shift_Ins_p.-152fs|WT1_ENST00000332351.3_Frame_Shift_Ins_p.-381fs|WT1_ENST00000448076.3_Frame_Shift_Ins_p.-381fs	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1						adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A314fs*69(11)|p.S313*(9)|p.S313fs*70(5)|p.A314fs*3(3)|p.A314fs*7(2)|p.V311fs*3(2)|p.A314fs*6(2)|p.S313fs*71(2)|p.L310fs*63(1)|p.P308fs*67(1)|p.S313del(1)|p.A314fs*68(1)|p.S313fs*4(1)|p.T309fs*4(1)|p.S313fs*6(1)|p.?fs(1)|p.A314fs*4(1)|p.A314fs*15(1)|p.S313fs*12(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TCTCAGATGCCGACCGTACAAG	0.52			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																													dbGAP	yes	Rec	yes	"Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"	11	11p13	7490	Wilms tumour 1 gene		O	47	Insertion - Frameshift(31)|Substitution - Nonsense(9)|Deletion - Frameshift(3)|Complex - frameshift(3)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(44)|kidney(3)	11	GRCh37	CM971595	WT1	M	rs142937387																																			32374486	SO:0001589	frameshift_variant	0	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"Zinc fingers, C2H2-type"	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.502_506dupCGGTC	11.37:g.32417910_32417914dupGACCG	ENSP00000368370:p.Ser169fs	474	0.420168067226891	2					32374485	284	41.0788381742739	198	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Frame_Shift_Ins	INS	HMMPfam_WT1,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.A382fs	ENST00000379079.2	37	c.1143_1142	CCDS55751.1	11																																																																																			-	HMMPfam_WT1		0.52	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WT1	protein_coding	OTTHUMT00000095434.1	-	NM_000378		32374486	-1	no_errors	NM_024426.3	genbank	human	reviewed	54_36p	frame_shift_ins	INS	0.771:0.996	GACCG	GACCG	32417910	-	GACCG	32417909	7	5	191	1	0	1	1	0	0	0	0	0	17405	639	23	0	426	0	WT1	11	32417909	Frame_Shift_Ins	INS	-	TCGA-AB-3009-03A-01D-0739-09		32417909	102588607	24	2173											
MYEOV	26579	genome.wustl.edu	37	11	69063836	69063836	+	Missense_Mutation	SNP	C	C	A	rs147884839		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:69063836C>A	ENST00000308946.3	+	3	1369	c.919C>A	c.(919-921)Ctc>Atc	p.L307I	MYEOV_ENST00000535407.1_Missense_Mutation_p.L249I|MYEOV_ENST00000441339.2_Missense_Mutation_p.L307I	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	307								p.L307I(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		cctcctcctcctcatcatcat	0.547																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11						C	ILE/LEU	0,4394		0,0,2197	34	30	32		919	-1.5	0	11	dbSNP_134	32	2,8576		0,2,4287	yes	missense	MYEOV	NM_138768.2	5	0,2,6484	AA,AC,CC		0.0233,0.0,0.0154	benign	307/314	69063836	2,12970	2197	4289	6486	68820412	SO:0001583	missense	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.919C>A	11.37:g.69063836C>A	ENSP00000308330:p.Leu307Ile	1287	1.38	18					68820412	130	50	130	Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.L307I	ENST00000308946.3	37	c.919	CCDS8190.1	11	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.613296	0.00835	0.0	2.33E-4	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.25250	1.81;1.81;1.81	0.761	-1.52	0.08637	.	.	.	.	.	T	0.11922	0.0290	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	9	0.87932	D	0	.	6.2599	0.20893	0.6536:0.3464:0.0:0.0	.	307	Q96EZ4	MYEOV_HUMAN	I	307;307;249	ENSP00000412482:L307I;ENSP00000308330:L307I;ENSP00000438100:L249I	ENSP00000308330:L307I	L	+	1	0	MYEOV	68820412	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.000000	0.00653	-2.447000	0.00545	-3.020000	0.00074	CTC	-	NULL		0.547	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	protein_coding	OTTHUMT00000396548.1	C			68820412	1	no_errors	NM_138768.2	genbank	human	validated	54_36p	missense	SNP	0.000	A	A	69063836	C	A	69063836	3	1	191	1	0	0	0	0	1	0	0	0	10025	681	24	4	925	4	MYEOV	11	69063836	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	36645927	69063836	65942680	25	2174											
NUMA1	4926	genome.wustl.edu	37	11	71724450	71724451	+	Frame_Shift_Ins	INS	-	-	CCCC			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	CCCC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:71724450_71724451insCCCC	ENST00000393695.3	-	15	4429_4430	c.4098_4099insGGGG	c.(4096-4101)ctctgcfs	p.C1367fs	NUMA1_ENST00000358965.6_Frame_Shift_Ins_p.C1367fs|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.C1367fs*18(3)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						AGCTGCTGGCAGAGGTGCTTAG	0.653			T	RARA	APL																																	dbGAP		Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	11																																								71402099	SO:0001589	frameshift_variant	0			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4098_4099insGGGG	11.37:g.71724450_71724451insCCCC	ENSP00000377298:p.Cys1367fs	264	1.12359550561798	3					71402098	120	36.5079365079365	69		Frame_Shift_Ins	INS	superfamily_Prefoldin	p.C1366fs	ENST00000393695.3	37	c.4099_4098	CCDS31633.1	11																																																																																			-	NULL		0.653	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMA1	protein_coding	OTTHUMT00000395769.1	-			71402099	-1	no_errors	NM_006185.2	genbank	human	validated	54_36p	frame_shift_ins	INS	0.996:0.977	CCCC	CCCC	71724451	-	CCCC	71724450	7	5	191	1	0	1	1	0	0	0	0	0	10750	188	7	0	2300	0	NUMA1	11	71724450	Frame_Shift_Ins	INS	-	TCGA-AB-3009-03A-01D-0739-09	2660614	71724450	63282066	26	2175											
EED	8726	genome.wustl.edu	37	11	85968591	85968591	+	Missense_Mutation	SNP	T	T	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	T	T	T	A	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr11:85968591T>A	ENST00000263360.6	+	6	1273	c.587T>A	c.(586-588)cTg>cAg	p.L196Q	EED_ENST00000327320.4_Missense_Mutation_p.L196Q|EED_ENST00000528180.1_Missense_Mutation_p.L196Q|EED_ENST00000351625.6_Missense_Mutation_p.L196Q	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	196	Interaction with EZH2. {ECO:0000250}.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)	p.L196Q(3)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				ATCAATGAGCTGAAATTCCAT	0.323																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	11											98	88	92					11																	85968591		2202	4299	6501	85646239	SO:0001583	missense	0			AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"WD repeat domain containing"	3188	protein-coding gene	gene with protein product	"WD protein associating with integrin cytoplasmic tails 1"	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.587T>A	11.37:g.85968591T>A	ENSP00000263360:p.Leu196Gln	662	0.3	2		37	45.59	31	85646239	235	47.19	210	A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.L196Q	ENST00000263360.6	37	c.587	CCDS8273.1	11	.	.	.	.	.	.	.	.	.	.	T	25.3	4.624096	0.87560	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84165	0.5412	M	0.93898	3.47	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.998;1.0	D	0.88600	0.3149	9	.	.	.	-6.2779	15.5428	0.76070	0.0:0.0:0.0:1.0	.	196;196;196;196	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	Q	196	ENSP00000263360:L196Q;ENSP00000431778:L196Q;ENSP00000338186:L196Q;ENSP00000315587:L196Q	.	L	+	2	0	EED	85646239	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.693000	0.84214	2.136000	0.66102	0.533000	0.62120	CTG	-	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_WD40		0.323	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EED	protein_coding	OTTHUMT00000393733.1	T	NM_003797		85646239	1	no_errors	NM_003797.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	85968591	T	A	85968591	3	1	191	1	0	0	0	0	1	0	0	0	4922	1580	55	5	609	5	EED	11	85968591	Missense_Mutation	SNP	T	TCGA-AB-3009-03A-01D-0739-09	14244141	85968591	49037925	27	2176											
ACCN2	41	genome.wustl.edu	37	12	50452780	50452780	+	Silent	SNP	C	C	G	rs143760934	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	G	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr12:50452780C>G	ENST00000447966.2	+	2	460	c.231C>G	c.(229-231)ctC>ctG	p.L77L	ASIC1_ENST00000228468.4_Silent_p.L77L	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	77					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)	p.L77L(3)								Amiloride(DB00594)|Diclofenac(DB00586)	TCACCAAGCTCGACGAGGTGG	0.572													C|||	10	0.00199681	0.0076	0	5008	,	,		20319	0		0	False		,,,				2504	0					dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	12						C	,	30,4376	36.0+/-67.5	0,30,2173	191	137	155		231,231	-1.5	1	12	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ACCN2	NM_001095.2,NM_020039.2	,	0,30,6473	GG,GC,CC		0.0,0.6809,0.2307	,	77/529,77/575	50452780	30,12976	2203	4300	6503	48739047	SO:0001819	synonymous_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"Ion channels / Acid-sensing (proton-gated) ion channels"	100	protein-coding gene	gene with protein product		602866	"amiloride-sensitive cation channel 2, neuronal"	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.231C>G	12.37:g.50452780C>G		1572	0.63	10		7	22.22	2	48739047	355	48.1	329	A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	HMMPfam_ASC,PatternScan_ASC	p.L77	ENST00000447966.2	37	c.231	CCDS44876.1	12																																																																																			-	HMMPfam_ASC		0.572	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCN2	protein_coding	OTTHUMT00000406004.2	C	NM_020039		48739047	1	no_errors	NM_020039.2	genbank	human	reviewed	54_36p	silent	SNP	1.000	G	G	50452780	C	G	50452780	2	3	191	1	0	0	0	0	0	0	0	1	129	871	31	4		4	ACCN2	12	50452780	Silent	SNP	C	TCGA-AB-3009-03A-01D-0739-09		50452780	83399115	28	2177											
ACSS3	79611	genome.wustl.edu	37	12	81536902	81536902	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr12:81536902C>T	ENST00000548058.1	+	5	1707	c.797C>T	c.(796-798)gCt>gTt	p.A266V	ACSS3_ENST00000261206.3_Missense_Mutation_p.A265V			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	266						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)	p.A266V(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTTCCTTTGGCTCCCGGTCGT	0.393																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	12											100	93	95					12																	81536902		2203	4300	6503	80061033	SO:0001583	missense	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"Acyl-CoA synthetase family"	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.797C>T	12.37:g.81536902C>T	ENSP00000449535:p.Ala266Val	533	0.187265917602996	1					80061033	256	47.3251028806584	230	Q8NC66	Missense_Mutation	SNP	HMMPfam_AMP-binding,PatternScan_AMP_BINDING,superfamily_Acetyl-CoA synthetase-like	p.A266V	ENST00000548058.1	37	c.797	CCDS9022.1	12	.	.	.	.	.	.	.	.	.	.	C	5.263	0.234014	0.09969	.	.	ENSG00000111058	ENST00000548058;ENST00000261206	T;T	0.42513	0.97;0.97	5.58	-1.34	0.09143	AMP-dependent synthetase/ligase (1);	1.410850	0.03652	N	0.241129	T	0.17534	0.0421	N	0.03177	-0.4	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10109	-1.0644	10	0.17369	T	0.5	0.4962	2.9114	0.05738	0.1177:0.2666:0.1163:0.4994	.	266	Q9H6R3	ACSS3_HUMAN	V	266;265	ENSP00000449535:A266V;ENSP00000261206:A265V	ENSP00000261206:A265V	A	+	2	0	ACSS3	80061033	0.000000	0.05858	0.001000	0.08648	0.597000	0.36814	-0.778000	0.04664	-0.192000	0.10432	0.561000	0.74099	GCT	-	HMMPfam_AMP-binding,superfamily_Acetyl-CoA synthetase-like		0.393	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	protein_coding	OTTHUMT00000407794.1	C	NM_024560		80061033	1	no_errors	NM_024560.2	genbank	human	validated	54_36p	missense	SNP	0.000	T	T	81536902	C	T	81536902	3	4	191	1	0	0	0	0	1	0	0	0	190	797	28	2	815	2	ACSS3	12	81536902	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	31084122	81536902	52314993	29	2178											
AP1G2	8906	genome.wustl.edu	37	14	24033309	24033309	+	Missense_Mutation	SNP	C	C	T	rs141367321	byFrequency	TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr14:24033309C>T	ENST00000308724.5	-	10	1792	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	AP1G2_ENST00000397120.3_Missense_Mutation_p.R346Q|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	346					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)	p.R346Q(3)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGCCGATGCCGCTGCACAGC	0.582																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	14						C	GLN/ARG	0,4406		0,0,2203	75	55	62		1037	4.5	1	14	dbSNP_134	62	4,8596	3.7+/-12.6	0,4,4296	yes	missense	AP1G2	NM_003917.2	43	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	346/786	24033309	4,13002	2203	4300	6503	23103149	SO:0001583	missense	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.1037G>A	14.37:g.24033309C>T	ENSP00000312442:p.Arg346Gln	2568	1.34	35		66	52.86	74	23103149	670	47.08	596	D3DS51|O75504	Missense_Mutation	SNP	HMMPfam_Adaptin_N,HMMPfam_Alpha_adaptinC2,HMMSmart_Alpha_adaptinC2,superfamily_Clath_adapt,superfamily_ARM-type_fold	p.R346Q	ENST00000308724.5	37	c.1037	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.422910	0.96111	0.0	4.65E-4	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.12569	2.67;2.67	4.47	4.47	0.54385	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.90082	3.085	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.53337	-0.8453	10	0.54805	T	0.06	-18.3189	14.6861	0.69049	0.0:1.0:0.0:0.0	.	346;201	O75843;Q86V28	AP1G2_HUMAN;.	Q	346;346;115;201	ENSP00000312442:R346Q;ENSP00000380309:R346Q	ENSP00000312442:R346Q	R	-	2	0	AP1G2	23103149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.935000	0.75886	2.308000	0.77769	0.557000	0.71058	CGG	-	HMMPfam_Adaptin_N,superfamily_ARM-type_fold		0.582	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	protein_coding	OTTHUMT00000071812.4	C	NM_003917		23103149	-1	no_errors	NM_003917.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	24033309	C	T	24033309	3	4	191	1	0	0	0	0	1	0	0	0	733	652	23	1	1368	1	AP1G2	14	24033309	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09		24033309	83316231	30	2179											
CTCF	10664	genome.wustl.edu	37	16	67660469	67660469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr16:67660469C>T	ENST00000264010.4	+	8	1813	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.R129*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	457					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R457*(4)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGTCCACTTGCGAAAGCAGCA	0.403																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											4	Substitution - Nonsense(4)	haematopoietic_and_lymphoid_tissue(3)|skin(1)	16											80	67	71					16																	67660469		2198	4300	6498	66217970	SO:0001587	stop_gained	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"Zinc fingers, C2H2-type"	13723	protein-coding gene	gene with protein product	"11 zinc finger transcriptional repressor"	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1369C>T	16.37:g.67660469C>T	ENSP00000264010:p.Arg457*	1876	0.64	12		68	18.07	15	66217970	242	43.88	190	B5MC38|Q53XI7|Q59EL8	Nonsense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R457*	ENST00000264010.4	37	c.1369	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	C	38	7.235568	0.98154	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	.	.	.	5.48	-0.175	0.13315	.	0.000000	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.3646	17.4895	0.87699	0.6371:0.3629:0.0:0.0	.	.	.	.	X	457;129	.	ENSP00000264010:R457X	R	+	1	2	CTCF	66217970	0.997000	0.39634	0.994000	0.49952	0.979000	0.70002	0.564000	0.23563	-0.153000	0.11137	-0.268000	0.10319	CGA	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.403	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	protein_coding	OTTHUMT00000268870.2	C	NM_006565		66217970	1	no_errors	NM_006565.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	67660469	C	T	67660469	4	4	191	1	0	0	0	0	0	1	0	0	4000	760	27	1	1391	1	CTCF	16	67660469	Nonsense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09		67660469	22694284	31	2180											
NF1	4763	genome.wustl.edu	37	17	29562981	29562981	+	Nonsense_Mutation	SNP	C	C	T	rs376576925		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr17:29562981C>T	ENST00000358273.4	+	29	4299	c.3916C>T	c.(3916-3918)Cga>Tga	p.R1306*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R1306*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1306	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.R1306*(5)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTTATTACGAATTGTGAT	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	17	Whole gene deletion(8)|Substitution - Nonsense(5)|Unknown(4)	soft_tissue(9)|haematopoietic_and_lymphoid_tissue(3)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CM981381	NF1	M							140	130	134					17																	29562981		2203	4300	6503	26587107	SO:0001587	stop_gained	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"neurofibromatosis", "von Recklinghausen disease", "Watson disease"	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3916C>T	17.37:g.29562981C>T	ENSP00000351015:p.Arg1306*	769	0.64	5		1	94.12	16	26587107	43	84.19	229	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	HMMSmart_SM00516,HMMPfam_RasGAP,HMMSmart_SM00323,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_GTPase activation domain GAP	p.R1306*	ENST00000358273.4	37	c.3916	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	46	12.668907	0.99687	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.94	2.6	0.31112	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4146	0.74956	0.589:0.411:0.0:0.0	.	.	.	.	X	1306;1306;972	.	ENSP00000348498:R1306X	R	+	1	2	NF1	26587107	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	3.385000	0.52485	0.763000	0.33175	0.557000	0.71058	CGA	-	HMMPfam_RasGAP,HMMSmart_SM00323,superfamily_GTPase activation domain GAP		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267		26587107	1	no_errors	NM_001042492.2	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T	T	29562981	C	T	29562981	4	4	191	1	0	0	0	0	0	1	0	0	10356	528	19	1	4091	1	NF1	17	29562981	Nonsense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09		29562981	51632229	32	2181											
SUZ12	23512	genome.wustl.edu	37	17	30293198	30293198	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr17:30293198G>A	ENST00000322652.5	+	5	717	c.488G>A	c.(487-489)gGt>gAt	p.G163D	SUZ12_ENST00000580398.1_Missense_Mutation_p.G140D|RNA5SP437_ENST00000517249.1_RNA	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	163					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.G163D(3)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				ACGTTTACTGGTTTCTTCCAC	0.294			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	17											31	31	31					17																	30293198		2199	4290	6489	27317311	SO:0001583	missense	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"Zinc fingers, C2H2-type"	17101	protein-coding gene	gene with protein product		606245	"suppressor of zeste 12 homolog (Drosophila)"			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.488G>A	17.37:g.30293198G>A	ENSP00000316578:p.Gly163Asp	389	1.76767676767677	7		4	93.1	54	27317311	10	89.5833333333333	86	Q96BD9	Missense_Mutation	SNP	PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,HMMPfam_VEFS-Box	p.G163D	ENST00000322652.5	37	c.488	CCDS11270.1	17	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357218	0.41801	.	.	ENSG00000178691	ENST00000322652	T	0.56275	0.47	4.71	4.71	0.59529	.	0.105878	0.64402	D	0.000004	T	0.58963	0.2159	L	0.56199	1.76	0.80722	D	1	D;D	0.63880	0.993;0.982	P;P	0.53266	0.722;0.706	T	0.56583	-0.7955	10	0.27082	T	0.32	-8.0667	15.8206	0.78638	0.0:0.0:1.0:0.0	.	163;163	A8K1U9;Q15022	.;SUZ12_HUMAN	D	163	ENSP00000316578:G163D	ENSP00000316578:G163D	G	+	2	0	SUZ12	27317311	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.493000	0.97960	2.128000	0.65567	0.385000	0.25706	GGT	-	NULL		0.294	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	protein_coding	OTTHUMT00000256260.2	G	NM_015355		27317311	1	no_errors	NM_015355.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	30293198	G	A	30293198	3	1	191	1	0	0	0	0	1	0	0	0	15413	1261	44	2	506	2	SUZ12	17	30293198	Missense_Mutation	SNP	G	TCGA-AB-3009-03A-01D-0739-09	730217	30293198	50902012	33	2182											
KIAA1267	284058	genome.wustl.edu	37	17	44108923	44108923	+	Silent	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr17:44108923C>T	ENST00000262419.6	-	15	3707	c.3237G>A	c.(3235-3237)gcG>gcA	p.A1079A	KANSL1_ENST00000575318.1_Silent_p.A1015A|KANSL1_ENST00000574590.1_Silent_p.A1079A|KANSL1_ENST00000572904.1_Silent_p.A1079A|KANSL1_ENST00000432791.1_Silent_p.A1079A|KANSL1_ENST00000393476.3_Silent_p.A373A	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	1079	Sufficient for interaction with KAT8.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.A1079A(3)									GCGAGGTGGGCGCTGCCTCTG	0.657																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	17											32	29	30					17																	44108923		2203	4300	6503	41464770	SO:0001819	synonymous_variant	0			BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"centromere protein 36"	612452	"KIAA1267"	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.3237G>A	17.37:g.44108923C>T		1127	1.05	12		25	59.02	36	41464770	296	49.83	296	A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Silent	SNP	NULL	p.A1079	ENST00000262419.6	37	c.3237	CCDS11503.1	17																																																																																			-	NULL		0.657	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIAA1267	protein_coding	OTTHUMT00000440274.1	C	NM_015443		41464770	-1	no_errors	NM_015443.2	genbank	human	validated	54_36p	silent	SNP	0.003	T	T	44108923	C	T	44108923	2	4	191	1	0	0	0	0	0	0	0	1	8219	755	27	1		1	KIAA1267	17	44108923	Silent	SNP	C	TCGA-AB-3009-03A-01D-0739-09	13815725	44108923	37086287	34	2183											
DNM2	1785	genome.wustl.edu	37	19	10909237	10909238	+	Frame_Shift_Ins	INS	-	-	GCCATCGT			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	GCCATCGT	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:10909237_10909238insGCCATCGT	ENST00000355667.6	+	11	1491_1492	c.1411_1412insGCCATCGT	c.(1411-1413)acgfs	p.T471fs	DNM2_ENST00000314646.5_Frame_Shift_Ins_p.T471fs|DNM2_ENST00000408974.4_Frame_Shift_Ins_p.T471fs|DNM2_ENST00000585892.1_Frame_Shift_Ins_p.T471fs|DNM2_ENST00000359692.6_Frame_Shift_Ins_p.T471fs|DNM2_ENST00000389253.4_Frame_Shift_Ins_p.T471fs	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	471					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)	p.T471fs*11(3)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GGAGGGGAGAACGAAGGACCAG	0.515			"F, N, Splice, Mis, O"		ETP ALL																																	dbGAP		Rec	yes		19	19p13.2	1785	dynamin 2		L	3	Insertion - Frameshift(3)	haematopoietic_and_lymphoid_tissue(3)	19																																								10770238	SO:0001589	frameshift_variant	0				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"Pleckstrin homology (PH) domain containing"	2974	protein-coding gene	gene with protein product	"dynamin II", "cytoskeletal protein"	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		Exception_encountered	19.37:g.10909237_10909238insGCCATCGT	ENSP00000347890:p.Thr471fs	457	1.08225108225108	5					10770237	246	37.4045801526718	147	A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Frame_Shift_Ins	INS	HMMPfam_Dynamin_M,HMMPfam_Dynamin_N,HMMSmart_SM00053,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_GED,HMMSmart_SM00302,PatternScan_DYNAMIN,superfamily_PH domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.T471fs	ENST00000355667.6	37	c.1411_1412	CCDS45968.1	19																																																																																			-	HMMPfam_Dynamin_M		0.515	DNM2-001	KNOWN	basic|CCDS	protein_coding	DNM2	protein_coding	OTTHUMT00000452592.1	-	NM_004945		10770238	1	no_errors	NM_001005360.1	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	GCCATCGT	GCCATCGT	10909238	-	GCCATCGT	10909237	7	5	191	1	0	1	1	0	0	0	0	0	4672	43	2	0	1596	0	DNM2	19	10909237	Frame_Shift_Ins	INS	-	TCGA-AB-3009-03A-01D-0739-09		10909237	48219746	35	2184											
CILP2	148113	genome.wustl.edu	37	19	19650501	19650501	+	Silent	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:19650501C>T	ENST00000291495.5	+	2	163	c.78C>T	c.(76-78)acC>acT	p.T26T	CILP2_ENST00000586018.1_Silent_p.T26T	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	26						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.T26T(3)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCACCCCCACCGAGGAGCCAA	0.642																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	19											82	85	84					19																	19650501		2203	4300	6503	19511501	SO:0001819	synonymous_variant	0			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"Immunoglobulin superfamily / Immunoglobulin-like domain containing"	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.78C>T	19.37:g.19650501C>T		434	2.9082774049217	13					19511501	211	42.032967032967	153	Q6NV88|Q8N4A6|Q8WV21	Silent	SNP	HMMPfam_TSP_1,HMMSmart_TSP1,superfamily_TSP1,HMMSmart_IGc2,superfamily_CarboxypepD_reg,HMMPfam_I-set,superfamily_SSF48726	p.T26	ENST00000291495.5	37	c.78	CCDS12405.1	19																																																																																			-	NULL		0.642	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	protein_coding	OTTHUMT00000459738.3	C	NM_153221		19511501	1	no_errors	NM_153221.2	genbank	human	validated	54_36p	silent	SNP	0.003	T	T	19650501	C	T	19650501	2	4	191	1	0	0	0	0	0	0	0	1	3430	639	23	1		1	CILP2	19	19650501	Silent	SNP	C	TCGA-AB-3009-03A-01D-0739-09	8741264	19650501	39478482	36	2185											
FFAR1	2864	genome.wustl.edu	37	19	35843150	35843150	+	Silent	SNP	G	G	A			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:35843150G>A	ENST00000246553.2	+	1	706	c.696G>A	c.(694-696)acG>acA	p.T232T		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	232					energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|positive regulation of GTPase activity (GO:0043547)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)|lipid binding (GO:0008289)	p.T232T(3)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCCTCCTCACGCTGCTGCTCT	0.701																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	19											14	12	12					19																	35843150		2126	4144	6270	40534990	SO:0001819	synonymous_variant	0			AF024687	CCDS12458.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000126266	ENSG00000126266		"GPCR / Class A : Fatty acid receptors"	4498	protein-coding gene	gene with protein product		603820	"G protein-coupled receptor 40"	GPR40		15684720	Standard	NM_005303		Approved	FFA1R	uc002nzc.2	O14842		ENST00000246553.2:c.696G>A	19.37:g.35843150G>A		328	0.906344410876133	3					40534990	167	46.984126984127	148	Q0VAS2|Q4VBL4	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.T232	ENST00000246553.2	37	c.696	CCDS12458.1	19																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.701	FFAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR1	protein_coding	OTTHUMT00000466112.2	G	NM_005303		40534990	1	no_errors	NM_005303.1	genbank	human	provisional	54_36p	silent	SNP	0.663	A	A	35843150	G	A	35843150	2	1	191	1	0	0	0	0	0	0	0	1	5827	1074	38	1		1	FFAR1	19	35843150	Silent	SNP	G	TCGA-AB-3009-03A-01D-0739-09	16192649	35843150	23285833	37	2186											
SHANK1	50944	genome.wustl.edu	37	19	51165404	51165404	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:51165404C>T	ENST00000293441.1	-	23	6322	c.6304G>A	c.(6304-6306)Gac>Aac	p.D2102N	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391813.1_Missense_Mutation_p.D1489N|SHANK1_ENST00000391814.1_Missense_Mutation_p.D2110N|SHANK1_ENST00000359082.3_Missense_Mutation_p.D2093N	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2102	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.D2102N(3)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCAGCCACGTCGAACTTGGTC	0.652																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	19											69	64	66					19																	51165404		2203	4300	6503	55857216	SO:0001583	missense	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"Sterile alpha motif (SAM) domain containing", "Ankyrin repeat domain containing"	15474	protein-coding gene	gene with protein product	"somatostatin receptor-interacting protein"	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6304G>A	19.37:g.51165404C>T	ENSP00000293441:p.Asp2102Asn	1108	0.09	1		6	45.45	5	55857216	265	42.89	199	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	HMMSmart_SM00326,superfamily_SH3-domain,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_PDZ domain-like,HMMPfam_SAM_1,HMMSmart_SM00454,HMMPfam_Ank,HMMSmart_SM00248,superfamily_Ankyrin repeat,superfamily_SAM/Pointed domain,HMMPfam_SH3_2	p.D2102N	ENST00000293441.1	37	c.6304	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	c	14.01	2.406670	0.42715	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	3.56	3.56	0.40772	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.64402	U	0.000001	T	0.71375	0.3332	M	0.87900	2.915	0.53005	D	0.999963	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78682	-0.2109	10	0.87932	D	0	.	14.4649	0.67477	0.0:1.0:0.0:0.0	.	2102;1489	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	N	2102;1489;2093;2110	ENSP00000293441:D2102N;ENSP00000375689:D1489N;ENSP00000351984:D2093N;ENSP00000375690:D2110N	ENSP00000293441:D2102N	D	-	1	0	SHANK1	55857216	1.000000	0.71417	0.973000	0.42090	0.972000	0.66771	7.459000	0.80802	2.011000	0.59026	0.450000	0.29827	GAC	-	HMMPfam_SAM_1,HMMSmart_SM00454,superfamily_SAM/Pointed domain		0.652	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	protein_coding	OTTHUMT00000268071.1	C	NM_016148		55857216	-1	no_errors	NM_016148.2	genbank	human	validated	54_36p	missense	SNP	1.000	T	T	51165404	C	T	51165404	3	4	191	1	0	0	0	0	1	0	0	0	14264	884	31	1	185	1	SHANK1	19	51165404	Missense_Mutation	SNP	C	TCGA-AB-3009-03A-01D-0739-09	15322254	51165404	7963579	38	2187											
ZNF677	342926	genome.wustl.edu	37	19	53740371	53740371	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr19:53740371G>T	ENST00000598513.1	-	5	1759	c.1609C>A	c.(1609-1611)Cac>Aac	p.H537N	ZNF677_ENST00000333952.4_Missense_Mutation_p.H537N	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	537					regulation of transcription, DNA-templated (GO:0006355)|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)	p.H537N(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TTTTCAATGTGTATTTTCTGG	0.318																																						dbGAP											3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	19											132	126	128					19																	53740371		2203	4299	6502	58432183	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"Zinc fingers, C2H2-type", "-"	28730	protein-coding gene	gene with protein product	"hypothetical protein MGC48625"					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1609C>A	19.37:g.53740371G>T	ENSP00000469391:p.His537Asn	555	0.892857142857143	5		0	100	1	58432183	223	40.2144772117962	150		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.H537N	ENST00000598513.1	37	c.1609	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	13.29	2.192029	0.38707	.	.	ENSG00000197928	ENST00000333952	T	0.70869	-0.52	2.12	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35235	N	0.003360	T	0.80059	0.4554	M	0.84846	2.72	0.29494	N	0.855382	D	0.57571	0.98	P	0.56751	0.805	T	0.76332	-0.2998	10	0.87932	D	0	.	10.314	0.43725	0.0:0.0:1.0:0.0	.	537	Q86XU0	ZN677_HUMAN	N	537	ENSP00000334394:H537N	ENSP00000334394:H537N	H	-	1	0	ZNF677	58432183	1.000000	0.71417	0.047000	0.18901	0.776000	0.43924	6.008000	0.70739	1.509000	0.48786	0.591000	0.81541	CAC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_ZnF_C2H2,superfamily_SSF57667		0.318	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	protein_coding	OTTHUMT00000464189.1	G	NM_182609		58432183	-1	no_errors	NM_182609.2	genbank	human	provisional	54_36p	missense	SNP	0.931	T	T	53740371	G	T	53740371	3	4	191	1	0	0	0	0	1	0	0	0	18081	1377	48	4	149	4	ZNF677	19	53740371	Missense_Mutation	SNP	G	TCGA-AB-3009-03A-01D-0739-09	2574967	53740371	5388612	39	2188											
GDF5	8200	genome.wustl.edu	37	20	34022055	34022055	+	Silent	SNP	A	A	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	A	A	A	T	A	A	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr20:34022055A>T	ENST00000374372.1	-	4	1661	c.1158T>A	c.(1156-1158)acT>acA	p.T386T	GDF5OS_ENST00000374375.1_Silent_p.R33R|GDF5_ENST00000374369.3_Silent_p.T386T			P43026	GDF5_HUMAN	growth differentiation factor 5	386					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.T386T(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGCCCTGGCGAGTGGCCAGTG	0.577																																						dbGAP											3	Substitution - coding silent(3)	haematopoietic_and_lymphoid_tissue(3)	20											77	80	79					20																	34022055		2203	4300	6503	33485469	SO:0001819	synonymous_variant	0			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"cartilage-derived morphogenetic protein-1"	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.1158T>A	20.37:g.34022055A>T		256	1.53846153846154	4		0	0	0	33485469	114	43	86	E1P5Q2|Q96SB1	Silent	SNP	HMMPfam_TGFb_propeptide,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1,superfamily_SSF57501	p.T386	ENST00000374372.1	37	c.1158	CCDS13254.1	20																																																																																			-	NULL		0.577	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF5	protein_coding	OTTHUMT00000078875.2	A			33485469	-1	no_errors	NM_000557.2	genbank	human	reviewed	54_36p	silent	SNP	0.507	T	T	34022055	A	T	34022055	2	4	191	1	0	0	0	0	0	0	0	1	6316	291	11	5		5	GDF5	20	34022055	Silent	SNP	A	TCGA-AB-3009-03A-01D-0739-09		34022055	29003465	40	2189											
RUNX1	861	genome.wustl.edu	37	21	36252869	36252870	+	Frame_Shift_Ins	INS	-	-	GGCTA	rs200907577		TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	-	-	-	GGCTA	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chr21:36252869_36252870insGGCTA	ENST00000344691.4	-	2	1988_1989	c.411_412insTAGCC	c.(409-414)gtcggtfs	p.G138fs	RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.G153fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.G165fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.G138fs|RUNX1_ENST00000486278.2_Frame_Shift_Ins_p.G141fs|RUNX1_ENST00000358356.5_Frame_Shift_Ins_p.G138fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.G165fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	138	Interaction with DNA.|Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				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.G165fs*1(3)|p.G165fs*13(1)|p.V164_G165insG(1)|p.?(1)|p.G165C(1)		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						CCACTTCGACCGACAAACCTGA	0.436			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	7	Insertion - Frameshift(4)|Substitution - Missense(1)|Unknown(1)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(7)	21																																								35174740	SO:0001589	frameshift_variant	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.411_412insTAGCC	21.37:g.36252869_36252870insGGCTA	ENSP00000340690:p.Gly138fs	532	1.11524163568773	6					35174739	306	38.0566801619433	188	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	superfamily_p53-like transcription factors,HMMPfam_Runt,HMMPfam_RunxI	p.G164fs	ENST00000344691.4	37	c.493_492	CCDS42922.1	21																																																																																			-	superfamily_p53-like transcription factors,HMMPfam_Runt		0.436	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	-			35174740	-1	no_errors	NM_001754.2	genbank	human	reviewed	54_36p	frame_shift_ins	INS	1.000:1.000	GGCTA	GGCTA	36252870	-	GGCTA	36252869	7	5	191	1	0	1	1	0	0	0	0	0	13746	652	23	0	1002	0	RUNX1	21	36252869	Frame_Shift_Ins	INS	-	TCGA-AB-3009-03A-01D-0739-09		36252869	11877026	41	2190											
PHF6	84295	genome.wustl.edu	37	X	133551224	133551224	+	Missense_Mutation	SNP	G	G	T			TCGA-AB-3009-03A-01D-0739-09	TCGA-AB-3009-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	dda8a1d8-dd5b-4640-8f48-a2ef2f4898dc	b77c4cc4-b7bb-45b7-8324-70f96f9a3629	g.chrX:133551224G>T	ENST00000332070.3	+	9	1062	c.860G>T	c.(859-861)gGt>gTt	p.G287V	PHF6_ENST00000394292.1_Missense_Mutation_p.G288V|PHF6_ENST00000416404.2_Missense_Mutation_p.G253V|PHF6_ENST00000370799.1_Missense_Mutation_p.G288V|PHF6_ENST00000370803.3_Missense_Mutation_p.G287V	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	287	Extended PHD2 domain (ePHD2).				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)	p.G287V(3)		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)					AGTCAGCCTGGTGCTACTATT	0.358			"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	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	X											119	105	110					X																	133551224		2203	4299	6502	133378890	SO:0001583	missense	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.860G>T	X.37:g.133551224G>T	ENSP00000329097:p.Gly287Val	449	3.23275862068966	15		0	100	37	133378890	22	93.491124260355	316	A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Missense_Mutation	SNP	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger	p.G287V	ENST00000332070.3	37	c.860	CCDS14639.1	X	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677320	0.88445	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404	D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96	5.98	5.98	0.97165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.94450	0.8214	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.91635	0.999;0.999;0.929	D	0.95343	0.8440	10	0.87932	D	0	-9.5007	18.1945	0.89817	0.0:0.0:1.0:0.0	.	253;287;288	B4E0G4;Q8IWS0;E9PC97	.;PHF6_HUMAN;.	V	287;287;288;288;253	ENSP00000359839:G287V;ENSP00000329097:G287V;ENSP00000377831:G288V;ENSP00000359835:G288V;ENSP00000394480:G253V	ENSP00000329097:G287V	G	+	2	0	PHF6	133378890	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	9.357000	0.97099	2.521000	0.84997	0.594000	0.82650	GGT	-	HMMSmart_SM00249,superfamily_FYVE/PHD zinc finger		0.358	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF6	protein_coding	OTTHUMT00000058367.1	G	NM_032458		133378890	1	no_errors	NM_001015877.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	133551224	G	T	133551224	3	4	191	1	0	0	0	0	1	0	0	0	11838	1261	44	4	995	4	PHF6	23	133551224	Missense_Mutation	SNP	G	TCGA-AB-3009-03A-01D-0739-09		133551224	21719336	42	2191											
OR1C1	26188	genome.wustl.edu	37	1	247921142	247921142	+	Silent	SNP	G	G	A	rs371761708		TCGA-AB-3011-03A-01D-0739-09	TCGA-AB-3011-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	fc2d6c31-dadb-45cb-9053-c87f535a77a5	53089a3e-4b9f-4c04-ac13-b972213961f1	g.chr1:247921142G>A	ENST00000408896.2	-	1	840	c.567C>T	c.(565-567)tgC>tgT	p.C189C		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	189					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C189C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGACGTCAGAGCAAGAGAGCT	0.458																																						dbGAP											1	Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(1)	1						G		0,4202		0,0,2101	58	59	59		567	1.2	0.9	1		59	1,8461		0,1,4230	no	coding-synonymous	OR1C1	NM_012353.2		0,1,6331	AA,AG,GG		0.0118,0.0,0.0079		189/315	247921142	1,12663	2101	4231	6332	245987765	SO:0001819	synonymous_variant	0			X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"GPCR / Class A : Olfactory receptors"	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.567C>T	1.37:g.247921142G>A		926	2.73	26					245987765	423	42.23	310	B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_Family A G protein-coupled receptor-like	p.C189	ENST00000408896.2	37	c.567	CCDS41481.1	1																																																																																			-	HMMPfam_7tm_1,superfamily_Family A G protein-coupled receptor-like		0.458	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1C1	protein_coding	OTTHUMT00000096855.1	G			245987765	-1	no_errors	NM_012353.2	genbank	human	validated	54_36p	silent	SNP	0.993	A	A	247921142	G	A	247921142	2	1	192	1	0	0	0	0	0	0	0	1	10952	963	34	2		2	OR1C1	1	247921142	Silent	SNP	G	TCGA-AB-3011-03A-01D-0739-09		247921142	1329479	1	2192											
IDH1	3417	genome.wustl.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-AB-3011-03A-01D-0739-09	TCGA-AB-3011-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	fc2d6c31-dadb-45cb-9053-c87f535a77a5	53089a3e-4b9f-4c04-ac13-b972213961f1	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"isocitrate dehydrogenase 1 (NADP+), soluble"		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	2											81	74	76					2																	209113113		2203	4300	6503	208821358	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser	308	2.22	7		29	59.72	43	208821358	204	36.84	119	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	HMMPfam_Iso_dh,PatternScan_IDH_IMDH,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like	p.R132S	ENST00000415913.1	37	c.394	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	-	HMMPfam_Iso_dh,superfamily_Isocitrate/Isopropylmalate dehydrogenase-like		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	protein_coding	OTTHUMT00000336672.1	G			208821358	-1	no_errors	NM_005896.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	T	T	209113113	G	T	209113113	3	4	192	1	0	0	0	0	1	0	0	0	7494	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-AB-3011-03A-01D-0739-09		209113113	34086260	2	2193											
NPM1	4869	genome.wustl.edu	37	5	170837547	170837548	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-AB-3011-03A-01D-0739-09	TCGA-AB-3011-11A-01D-0739-09	-	-	-	TCTG	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	fc2d6c31-dadb-45cb-9053-c87f535a77a5	53089a3e-4b9f-4c04-ac13-b972213961f1	g.chr5:170837547_170837548insTCTG	ENST00000296930.5	+	11	1164_1165	c.863_864insTCTG	c.(862-867)tggcagfs	p.WQ288fs	NPM1_ENST00000517671.1_Frame_Shift_Ins_p.WQ288fs|NPM1_ENST00000351986.6_Frame_Shift_Ins_p.WQ259fs	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	288	Required for nucleolar localization.			WQWRKSL -> CLAVEEVSLRK (in Ref. 6; AAW67752/AAW67755). {ECO:0000305}.|WQWRKSL -> CMAVEEVSLRK (in Ref. 6; AAW67753 and 7; ABC40399). {ECO:0000305}.|WQWRKSL -> CVAVEEVSLRK (in Ref. 6; AAW67754). {ECO:0000305}.	cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)	p.W288fs*12(2114)|p.W288fs*10(9)|p.Q289fs*11(3)|p.W288*(1)	NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAAGATCTCTGGCAGTGGAGGA	0.312			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"																																	dbGAP		Dom	yes		5	5q35	4869	"nucleophosmin (nucleolar phosphoprotein B23, numatrin)"		L	2127	Insertion - Frameshift(2118)|Complex - frameshift(8)|Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(2127)	5																																								170770153	SO:0001589	frameshift_variant	0			M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"nucleolar phosphoprotein B23", "numatrin", "nucleophosmin/nucleoplasmin family, member 1"	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.860_863dupTCTG	5.37:g.170837544_170837547dupTCTG	ENSP00000296930:p.Trp288fs								170770152				A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Frame_Shift_Ins	INS	HMMPfam_Nucleoplasmin,superfamily_Nucleoplasmin-like core domain	p.W288fs	ENST00000296930.5	37	c.863_864	CCDS4376.1	5																																																																																			-	NULL		0.312	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPM1	protein_coding	OTTHUMT00000252858.2	-	NM_002520		170770153	1	no_errors	NM_002520.1	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TCTG	TCTG	170837548	-	TCTG	170837547	7	5	192	1	0	1	1	0	0	0	0	0	10587	1357	47	0	918	0	NPM1	5	170837547	Frame_Shift_Ins	INS	-	TCGA-AB-3011-03A-01D-0739-09		170837547	10077713	3	2194											
GTF3A	219402	genome.wustl.edu	37	13	28008981	28008981	+	IGR	SNP	G	G	A			TCGA-AB-3011-03A-01D-0739-09	TCGA-AB-3011-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	fc2d6c31-dadb-45cb-9053-c87f535a77a5	53089a3e-4b9f-4c04-ac13-b972213961f1	g.chr13:28008981G>A	ENST00000381116.1	-	0	1104				MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000470606.1_3'UTR|GTF3A_ENST00000381140.4_Missense_Mutation_p.R228H			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		ACATTTAAACGCAAAGATTAC	0.388																																						dbGAP											0			13											88	75	79					13																	28008981		1568	3582	5150	26906981	SO:0001628	intergenic_variant	0			BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28008981G>A		876	3.74	34		127	61.04	199	26906981	361	40.43	245	Q05BL8|Q5W0V0|Q86X68	Missense_Mutation	SNP	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.R285H	ENST00000381116.1	37	c.854	CCDS9322.1	13	.	.	.	.	.	.	.	.	.	.	G	17.80	3.479169	0.63849	.	.	ENSG00000122034	ENST00000381140	T	0.56941	0.43	5.43	4.59	0.56863	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.281464	0.44902	N	0.000405	T	0.57257	0.2041	L	0.28192	0.835	0.36670	D	0.878447	B;D	0.89917	0.078;1.0	B;D	0.91635	0.023;0.999	T	0.65932	-0.6048	9	0.41790	T	0.15	-27.5452	10.5337	0.44992	0.1489:0.0:0.8511:0.0	.	203;228	Q92664-2;Q92664	.;TF3A_HUMAN	H	228	ENSP00000370532:R228H	ENSP00000370532:R228H	R	+	2	0	GTF3A	26906981	1.000000	0.71417	0.989000	0.46669	0.973000	0.67179	5.679000	0.68160	1.288000	0.44600	-0.300000	0.09419	CGC	-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.388	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3A	protein_coding	OTTHUMT00000044300.1	G	NM_152912		26906981	1	no_errors	ENST00000381140	ensembl	human	known	54_36p	missense	SNP	1.000	A	A	28008981	G	A	28008981	1	1	192	0	1	0	0	0	0	0	0	0	6871	1087	38	1		1	GTF3A	13	28008981	IGR	SNP	G	TCGA-AB-3011-03A-01D-0739-09		28008981	87160897	4	2195											
WNK4	65266	genome.wustl.edu	37	17	40940390	40940390	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3011-03A-01D-0739-09	TCGA-AB-3011-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	fc2d6c31-dadb-45cb-9053-c87f535a77a5	53089a3e-4b9f-4c04-ac13-b972213961f1	g.chr17:40940390C>T	ENST00000246914.5	+	10	2026	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	669					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)	p.R657W(1)|p.R669W(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGGAATCTCCGGCGCAGACC	0.572																																					Esophageal Squamous(6;201 374 4964 23855 42828)	dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	17											43	44	44					17																	40940390		2203	4300	6503	38193916	SO:0001583	missense	0			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"protein kinase, lysine deficient 4"	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2005C>T	17.37:g.40940390C>T	ENSP00000246914:p.Arg669Trp	201	6.48	14					38193916	144	43.14	110	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase	p.R669W	ENST00000246914.5	37	c.2005	CCDS11439.1	17	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193628	0.78902	.	.	ENSG00000126562	ENST00000246914;ENST00000316085;ENST00000442804	T	0.34275	1.37	5.35	4.29	0.51040	.	0.180408	0.27294	N	0.020034	T	0.52933	0.1765	L	0.49778	1.585	0.34499	D	0.705861	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.992;0.993;0.985;0.985	T	0.65401	-0.6177	10	0.87932	D	0	-17.7292	14.0152	0.64519	0.2275:0.7725:0.0:0.0	.	13;669;669;669	B4DXG4;Q96J92-3;B0LPI0;Q96J92	.;.;.;WNK4_HUMAN	W	669;441;13	ENSP00000246914:R669W	ENSP00000246914:R669W	R	+	1	2	WNK4	38193916	.	.	1.000000	0.80357	0.970000	0.65996	.	.	2.520000	0.84964	0.549000	0.68633	CGG	-	NULL		0.572	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	protein_coding	OTTHUMT00000452389.1	C			38193916	1	no_errors	NM_032387.3	genbank	human	validated	54_36p	missense	SNP	0.975	T	T	40940390	C	T	40940390	3	4	192	1	0	0	0	0	1	0	0	0	17377	643	23	1	2043	1	WNK4	17	40940390	Missense_Mutation	SNP	C	TCGA-AB-3011-03A-01D-0739-09		40940390	40254820	5	2196											
TRPM4	54795	genome.wustl.edu	37	19	49705260	49705260	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3011-03A-01D-0739-09	TCGA-AB-3011-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	fc2d6c31-dadb-45cb-9053-c87f535a77a5	53089a3e-4b9f-4c04-ac13-b972213961f1	g.chr19:49705260G>A	ENST00000252826.5	+	20	3119	c.2993G>A	c.(2992-2994)gGc>gAc	p.G998D	TRPM4_ENST00000355712.5_Missense_Mutation_p.G644D|TRPM4_ENST00000427978.2_Missense_Mutation_p.G853D	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	998					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)	p.G998D(1)		breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCGGAGCCCGGCTTCTGGGCA	0.622																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											87	87	87					19																	49705260		2203	4300	6503	54397072	SO:0001583	missense	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"Voltage-gated ion channels / Transient receptor potential cation channels"	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2993G>A	19.37:g.49705260G>A	ENSP00000252826:p.Gly998Asp	65	5.8	4					54397072	90	43.12	69	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	HMMPfam_Ion_trans	p.G998D	ENST00000252826.5	37	c.2993	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136439	0.56936	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.68479	-0.33;-0.33;-0.33	4.05	4.05	0.47172	.	0.395235	0.23129	U	0.051606	T	0.73202	0.3557	L	0.41710	1.295	0.19300	N	0.999973	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.74674	0.965;0.984;0.974;0.965	T	0.64249	-0.6452	10	0.42905	T	0.14	-24.9329	13.5241	0.61584	0.0:0.0:1.0:0.0	.	644;824;853;998	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	D	998;853;644	ENSP00000252826:G998D;ENSP00000407492:G853D;ENSP00000347944:G644D	ENSP00000252826:G998D	G	+	2	0	TRPM4	54397072	0.986000	0.35501	0.319000	0.25293	0.042000	0.13812	3.174000	0.50847	1.973000	0.57446	0.467000	0.42956	GGC	-	HMMPfam_Ion_trans		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	protein_coding	OTTHUMT00000465543.2	G	NM_017636		54397072	1	no_errors	NM_017636.2	genbank	human	provisional	54_36p	missense	SNP	0.061	A	A	49705260	G	A	49705260	3	1	192	1	0	0	0	0	1	0	0	0	16585	1203	42	2	3071	2	TRPM4	19	49705260	Missense_Mutation	SNP	G	TCGA-AB-3011-03A-01D-0739-09		49705260	9423723	6	2197											
NONO	4841	genome.wustl.edu	37	X	70511697	70511697	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3011-03A-01D-0739-09	TCGA-AB-3011-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	fc2d6c31-dadb-45cb-9053-c87f535a77a5	53089a3e-4b9f-4c04-ac13-b972213961f1	g.chrX:70511697C>A	ENST00000276079.8	+	4	428	c.223C>A	c.(223-225)Cgt>Agt	p.R75S	NONO_ENST00000535149.1_5'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.R75S|NONO_ENST00000373841.1_Missense_Mutation_p.R75S	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	75	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R75S(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCAACGAAGCCGTCTTTTTGT	0.418			T	TFE3	papillary renal cancer																																	dbGAP		Dom	yes		X	Xq13.1	4841	"non-POU domain containing, octamer-binding"		E	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											58	55	56					X																	70511697		2203	4297	6500	70428422	SO:0001583	missense	0			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"RNA binding motif (RRM) containing"	7871	protein-coding gene	gene with protein product	"Nuclear RNA-binding protein, 54-kD", "non-Pou domain-containing octamer (ATGCAAAT) binding protein", "protein phosphatase 1, regulatory subunit 114"	300084	"non-POU-domain-containing, octamer-binding"			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.223C>A	X.37:g.70511697C>A	ENSP00000276079:p.Arg75Ser	215	1.83	4		71	55.06	87	70428422	132	23.26	40	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	HMMPfam_RRM_1,HMMSmart_SM00360,HMMPfam_NOPS,superfamily_RNA-binding domain RBD	p.R75S	ENST00000276079.8	37	c.223	CCDS14410.1	X	.	.	.	.	.	.	.	.	.	.	c	17.20	3.329627	0.60743	.	.	ENSG00000147140	ENST00000276079;ENST00000373856;ENST00000373841;ENST00000420903;ENST00000413858;ENST00000454976	T;T;T;T;T;T	0.74421	3.36;3.36;3.36;0.96;-0.84;3.36	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.28014	0.82	0.80722	D	1	B	0.24823	0.112	B	0.19946	0.027	T	0.65492	-0.6155	10	0.87932	D	0	-6.7939	17.4718	0.87648	0.0:1.0:0.0:0.0	.	75	Q15233	NONO_HUMAN	S	75	ENSP00000276079:R75S;ENSP00000362963:R75S;ENSP00000362947:R75S;ENSP00000410299:R75S;ENSP00000413350:R75S;ENSP00000406673:R75S	ENSP00000276079:R75S	R	+	1	0	NONO	70428422	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.966000	0.49208	2.310000	0.77875	0.523000	0.50628	CGT	-	HMMSmart_SM00360,superfamily_RNA-binding domain RBD		0.418	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	protein_coding	OTTHUMT00000057138.1	C	NM_007363		70428422	1	no_errors	NM_007363.1	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	70511697	C	A	70511697	3	1	192	1	0	0	0	0	1	0	0	0	10534	652	23	4	229	4	NONO	23	70511697	Missense_Mutation	SNP	C	TCGA-AB-3011-03A-01D-0739-09		70511697	84758863	7	2198											
CADM2	253559	genome.wustl.edu	37	3	86114809	86114809	+	Missense_Mutation	SNP	T	T	G			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	T	T	T	G	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr3:86114809T>G	ENST00000407528.2	+	9	1180	c.1118T>G	c.(1117-1119)aTa>aGa	p.I373R	CADM2_ENST00000405615.2_Missense_Mutation_p.I375R|CADM2_ENST00000383699.3_Missense_Mutation_p.I342R	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	373					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.I375R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATAGGAGGAATAGTGGCTGTA	0.403																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	3											162	143	149					3																	86114809		2203	4300	6503	86197499	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"Immunoglobulin superfamily / V-set domain containing", "Immunoglobulin superfamily / I-set domain containing", "Immunoglobulin superfamily / C2-set domain containing"	29849	protein-coding gene	gene with protein product	"nectin-like 3"	609938	"immunoglobulin superfamily, member 4D"	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1118T>G	3.37:g.86114809T>G	ENSP00000384575:p.Ile373Arg	953	0.31	3					86197499	500	42.95	378	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	HMMSmart_4.1m,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_V-set,HMMPfam_ig,HMMPfam_C2-set_2,superfamily_SSF48726	p.I375R	ENST00000407528.2	37	c.1124	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547829	0.86022	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.66815	0.84;-0.23;-0.22	5.76	5.76	0.90799	.	0.095394	0.64402	D	0.000001	T	0.72070	0.3415	L	0.29908	0.895	0.80722	D	1	D;P;P	0.56746	0.977;0.925;0.877	D;P;P	0.64042	0.921;0.667;0.467	T	0.74067	-0.3784	10	0.52906	T	0.07	.	16.0708	0.80928	0.0:0.0:0.0:1.0	.	375;342;373	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	R	342;373;375	ENSP00000373200:I342R;ENSP00000384575:I373R;ENSP00000384193:I375R	ENSP00000373200:I342R	I	+	2	0	CADM2	86197499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.197000	0.70478	0.528000	0.53228	ATA	-	NULL		0.403	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	protein_coding	OTTHUMT00000352822.1	T	NM_153184		86197499	1	no_errors	NM_153184.2	genbank	human	validated	54_36p	missense	SNP	1.000	G	G	86114809	T	G	86114809	3	3	193	1	0	0	0	0	1	0	0	0	2567	1406	49	5	1223	5	CADM2	3	86114809	Missense_Mutation	SNP	T	TCGA-AB-3012-03A-01D-0739-09		86114809	111907621	1	2199											
FRYL	285527	genome.wustl.edu	37	4	48577210	48577210	+	Missense_Mutation	SNP	T	T	C			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	T	T	T	C	T	T	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr4:48577210T>C	ENST00000503238.1	-	22	2769	c.2770A>G	c.(2770-2772)Atg>Gtg	p.M924V	FRYL_ENST00000358350.4_Missense_Mutation_p.M924V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.M924V|FRYL_ENST00000537810.1_Missense_Mutation_p.M924V|RNU5E-3P_ENST00000515913.1_RNA			O94915	FRYL_HUMAN	FRY-like	924					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.M924V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAACGCATCATTGGAACTATG	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	4											115	108	110					4																	48577210		1885	4108	5993	48271967	SO:0001583	missense	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"KIAA0826", "furry homolog-like (Drosophila)"	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2770A>G	4.37:g.48577210T>C	ENSP00000426064:p.Met924Val	390	0	0		18	37.93	11	48271967	582	34.61	308	O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	superfamily_ARM repeat	p.M924V	ENST00000503238.1	37	c.2770	CCDS43227.1	4	.	.	.	.	.	.	.	.	.	.	T	16.11	3.030694	0.54790	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.71	4.53	0.55603	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	U	0.000000	T	0.34454	0.0898	L	0.43152	1.355	0.80722	D	1	B;B	0.29612	0.0;0.251	B;B	0.24541	0.001;0.054	T	0.13926	-1.0491	10	0.59425	D	0.04	.	11.6373	0.51211	0.0:0.0691:0.0:0.9309	.	924;924	F2Z2S2;O94915	.;FRYL_HUMAN	V	924	ENSP00000426064:M924V;ENSP00000351113:M924V;ENSP00000441114:M924V;ENSP00000421584:M924V	ENSP00000351113:M924V	M	-	1	0	FRYL	48271967	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.829000	0.62737	0.992000	0.38840	-0.263000	0.10527	ATG	-	superfamily_ARM repeat		0.398	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	protein_coding	OTTHUMT00000369265.2	T			48271967	-1	no_errors	NM_015030.1	genbank	human	validated	54_36p	missense	SNP	1.000	C	C	48577210	T	C	48577210	3	2	193	1	0	0	0	0	1	0	0	0	6064	1493	52	3	6431	3	FRYL	4	48577210	Missense_Mutation	SNP	T	TCGA-AB-3012-03A-01D-0739-09		48577210	142577066	2	2200											
ETV6	2120	genome.wustl.edu	37	12	11992221	11992233	+	Frame_Shift_Del	DEL	ATCGATCTCCTCA	ATCGATCTCCTCA	-			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	ATCGATCTCCTCA	ATCGATCTCCTCA	ATCGATCTCCTCA	-	ATCGATCTCCTCA	ATCGATCTCCTCA	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr12:11992221_11992233delATCGATCTCCTCA	ENST00000396373.4	+	3	585_597	c.311_323delATCGATCTCCTCA	c.(310-324)tatcgatctcctcatfs	p.YRSPH104fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	104	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R105P(2)|p.R105G(1)|p.Y104fs*14(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				GACTTTCGCTATCGATCTCCTCATTCAGGTGAG	0.465			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"																																	dbGAP		Dom	yes		12	12p13	2120	ets variant gene 6 (TEL oncogene)		"L, E, M"	4	Substitution - Missense(3)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(4)	12																																								11883500	SO:0001589	frameshift_variant	0			BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"TEL oncogene"	600618	"ets variant gene 6 (TEL oncogene)"			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.311_323delATCGATCTCCTCA	12.37:g.11992221_11992233delATCGATCTCCTCA	ENSP00000379658:p.Tyr104fs								11883488				A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Frame_Shift_Del	DEL	HMMPfam_Ets,HMMSmart_SM00413,PatternScan_ETS_DOMAIN_2,HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain,superfamily_"Winged helix" DNA-binding domain	p.Y104fs	ENST00000396373.4	37	c.311_323	CCDS8643.1	12																																																																																			-	HMMPfam_SAM_PNT,HMMSmart_SM00251,superfamily_SAM/Pointed domain		0.465	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV6	protein_coding	OTTHUMT00000400130.2	ATCGATCTCCTCA	NM_001987		11883500	1	no_errors	NM_001987.4	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.995:0.881:0.929:0.995:0.992:1.000:1.000:1.000:1.000:1.000:0.984:1.000:1.000	-	-	11992233	ATCGATCTCCTCA	-	11992221	7	5	193	1	0	1	0	1	0	0	0	0	5283	449	16	0	321	0	ETV6	12	11992221	Frame_Shift_Del	DEL	ATCGATCTCCTCA	TCGA-AB-3012-03A-01D-0739-09		11992221	121859674	3	2201											
GANC	2595	genome.wustl.edu	37	15	42641596	42641596	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr15:42641596G>A	ENST00000318010.8	+	22	2674	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	812					carbohydrate metabolic process (GO:0005975)		alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)	p.E812K(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)	Miglitol(DB00491)	TTCAGTGGGTGAGTTATATCT	0.398																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	15											179	166	170					15																	42641596		2203	4299	6502	40428888	SO:0001583	missense	0			AF545045	CCDS10084.1	15q15.2	2012-10-02			ENSG00000214013	ENSG00000214013	3.2.1.20		4139	protein-coding gene	gene with protein product		104180				6995030, 12370436	Standard	NM_198141		Approved		uc001zpi.3	Q8TET4	OTTHUMG00000130487	ENST00000318010.8:c.2434G>A	15.37:g.42641596G>A	ENSP00000326227:p.Glu812Lys	1453	0	0		18	18.18	4	40428888	962	41.8	691	Q52LQ4|Q8IWZ0|Q8IZM4|Q8IZM5	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,superfamily_(Trans)glycosidases	p.E812K	ENST00000318010.8	37	c.2434	CCDS10084.1	15	.	.	.	.	.	.	.	.	.	.	G	32	5.124756	0.94429	.	.	ENSG00000214013	ENST00000318010	D	0.87334	-2.24	5.37	5.37	0.77165	.	0.105700	0.64402	D	0.000006	D	0.89536	0.6743	M	0.80183	2.485	0.80722	D	1	B	0.24920	0.114	B	0.30716	0.119	D	0.87928	0.2708	10	0.72032	D	0.01	-7.446	19.1088	0.93309	0.0:0.0:1.0:0.0	.	812	Q8TET4	GANC_HUMAN	K	812	ENSP00000326227:E812K	ENSP00000447925:E44K	E	+	1	0	GANC	40428888	1.000000	0.71417	0.983000	0.44433	0.917000	0.54804	7.044000	0.76578	2.527000	0.85204	0.462000	0.41574	GAG	-	NULL		0.398	GANC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GANC	protein_coding	OTTHUMT00000252887.2	G	NM_198141		40428888	1	no_errors	NM_198141.2	genbank	human	reviewed	54_36p	missense	SNP	1.000	A	A	42641596	G	A	42641596	3	1	193	1	0	0	0	0	1	0	0	0	6234	1291	45	2	2520	2	GANC	15	42641596	Missense_Mutation	SNP	G	TCGA-AB-3012-03A-01D-0739-09		42641596	59889796	4	2202											
SRRM2	23524	genome.wustl.edu	37	16	2812699	2812700	+	Frame_Shift_Ins	INS	-	-	TC	rs572376986		TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	-	-	-	TC	-	-	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr16:2812699_2812700insTC	ENST00000301740.8	+	11	2719_2720	c.2170_2171insTC	c.(2170-2172)tctfs	p.S724fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	724	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S724fs*27(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAGAGGCAGATCTGGCTCATCT	0.46																																						dbGAP											1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)	16																																								2752701	SO:0001589	frameshift_variant	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	Exception_encountered	16.37:g.2812699_2812700insTC	ENSP00000301740:p.Ser724fs	1993	0	0		430	34.55	227	2752700	1128	35.98	634	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Frame_Shift_Ins	INS	HMMPfam_cwf21	p.S724fs	ENST00000301740.8	37	c.2170_2171	CCDS32373.1	16																																																																																			-	NULL		0.46	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	-			2752701	1	no_errors	NM_016333.3	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	TC	TC	2812700	-	TC	2812699	7	5	193	1	0	1	1	0	0	0	0	0	15168	1435	50	0	2208	0	SRRM2	16	2812699	Frame_Shift_Ins	INS	-	TCGA-AB-3012-03A-01D-0739-09		2812699	87542054	5	2203											
DHX34	9704	genome.wustl.edu	37	19	47876160	47876160	+	Missense_Mutation	SNP	G	G	A			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	G	G	G	A	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr19:47876160G>A	ENST00000328771.4	+	8	2291	c.1942G>A	c.(1942-1944)Gtc>Atc	p.V648I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	648					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.V648I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCTCTTCAACGTCTTCAACGC	0.682																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											31	29	30					19																	47876160		2203	4299	6502	52567974	SO:0001583	missense	0			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"DEAH-boxes"	16719	protein-coding gene	gene with protein product		615475	"DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1942G>A	19.37:g.47876160G>A	ENSP00000331907:p.Val648Ile	203	0	0		8	11.11	1	52567974	87	43.51	67	B4DMY8	Missense_Mutation	SNP	HMMPfam_Helicase_C,HMMSmart_SM00490,HMMPfam_HA2,HMMPfam_DUF1605,HMMSmart_SM00487,PatternScan_RUBREDOXIN,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V648I	ENST00000328771.4	37	c.1942	CCDS12700.1	19	.	.	.	.	.	.	.	.	.	.	G	9.035	0.988340	0.18966	.	.	ENSG00000134815	ENST00000328771	T	0.02763	4.17	5.45	0.362	0.16113	.	0.780540	0.11387	N	0.569247	T	0.01189	0.0039	N	0.01352	-0.895	0.23425	N	0.997703	B	0.06786	0.001	B	0.06405	0.002	T	0.48927	-0.8991	10	0.27785	T	0.31	-28.9447	8.6445	0.33996	0.4474:0.0:0.5526:0.0	.	648	Q14147	DHX34_HUMAN	I	648	ENSP00000331907:V648I	ENSP00000331907:V648I	V	+	1	0	DHX34	52567974	0.069000	0.21087	0.391000	0.26233	0.789000	0.44602	0.501000	0.22578	-0.079000	0.12707	0.655000	0.94253	GTC	-	NULL		0.682	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	protein_coding	OTTHUMT00000314313.3	G	NM_014681		52567974	1	no_errors	NM_014681.4	genbank	human	reviewed	54_36p	missense	SNP	0.984	A	A	47876160	G	A	47876160	3	1	193	1	0	0	0	0	1	0	0	0	4507	1145	40	1	1968	1	DHX34	19	47876160	Missense_Mutation	SNP	G	TCGA-AB-3012-03A-01D-0739-09		47876160	11252823	6	2204											
TOP3B	8940	genome.wustl.edu	37	22	22324724	22324724	+	Missense_Mutation	SNP	C	C	T			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	C	C	C	T	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr22:22324724C>T	ENST00000398793.2	-	6	873	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	TOP3B_ENST00000357179.5_Missense_Mutation_p.V147M|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	147	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)	p.V147M(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GCCCGGAACACGGTCTTCTCG	0.607																																						dbGAP											2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	22											96	79	85					22																	22324724		2203	4300	6503	20654724	SO:0001583	missense	0			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.439G>A	22.37:g.22324724C>T	ENSP00000381773:p.Val147Met	596	0	0		15	50	15	20654724	265	41.37	187	A0M8Q3|Q9BUP5	Missense_Mutation	SNP	PatternScan_TOPOISOMERASE_I_PROK,superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMSmart_SM00437,HMMSmart_SM00493,HMMPfam_Toprim,HMMPfam_Topoisom_bac	p.V147M	ENST00000398793.2	37	c.439	CCDS13797.1	22	.	.	.	.	.	.	.	.	.	.	C	19.22	3.785430	0.70337	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.25912	1.77;1.77;1.77	4.97	4.97	0.65823	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, domain 2 (1);Toprim domain (1);	0.061993	0.64402	D	0.000005	T	0.51329	0.1668	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	P	0.61328	0.887	T	0.58736	-0.7584	10	0.87932	D	0	-0.0362	12.2415	0.54544	0.0:0.9115:0.0:0.0885	.	147	O95985	TOP3B_HUMAN	M	147	ENSP00000349705:V147M;ENSP00000381773:V147M;ENSP00000390977:V147M	ENSP00000349705:V147M	V	-	1	0	TOP3B	20654724	0.983000	0.35010	0.949000	0.38748	0.296000	0.27459	2.608000	0.46308	2.594000	0.87642	0.561000	0.74099	GTG	-	superfamily_Prokaryotic type I DNA topoisomerase,HMMSmart_SM00436,HMMPfam_Toprim		0.607	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TOP3B	protein_coding	OTTHUMT00000320251.1	C	NM_003935		20654724	-1	no_errors	NM_003935.3	genbank	human	reviewed	54_36p	missense	SNP	0.984	T	T	22324724	C	T	22324724	3	4	193	1	0	0	0	0	1	0	0	0	16365	536	19	1	2201	1	TOP3B	22	22324724	Missense_Mutation	SNP	C	TCGA-AB-3012-03A-01D-0739-09		22324724	28979842	7	2205											
EWSR1	2130	genome.wustl.edu	37	22	29688596	29688596	+	Splice_Site	SNP	G	G	T			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	G	G	G	T	G	G	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chr22:29688596G>T	ENST00000397938.2	+	11	1483		c.e11+1		EWSR1_ENST00000332035.6_Splice_Site|EWSR1_ENST00000414183.2_Splice_Site|EWSR1_ENST00000332050.6_Splice_Site|EWSR1_ENST00000331029.7_Splice_Site|EWSR1_ENST00000406548.1_Splice_Site	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.?(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTTGTTAAGGTCAGTAAAAG	0.383			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"																																	dbGAP		Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"L, M"	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	22											141	125	130					22																	29688596		2203	4300	6503	28018596	SO:0001630	splice_region_variant	0				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"RNA binding motif (RRM) containing"	3508	protein-coding gene	gene with protein product		133450	"Ewing sarcoma breakpoint region 1"			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1164+1G>T	22.37:g.29688596G>T		1118	0	0		13	26.47	9	28018596	753	18.95	176	B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Splice_Site	SNP	-	e11+1	ENST00000397938.2	37	c.1164+1	CCDS13851.1	22	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533780	0.85812	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035;ENST00000360091	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5601	0.95368	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EWSR1	28018596	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	9.431000	0.97494	2.620000	0.88729	0.650000	0.86243	.	-	-		0.383	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EWSR1	protein_coding	OTTHUMT00000321345.1	G	NM_005243	Intron	28018596	1	no_errors	NM_005243.2	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	T	T	29688596	G	T	29688596	5	4	193	1	0	0	0	0	0	0	1	0	5296	1275	44	4	1324	4	EWSR1	22	29688596	Splice_Site	SNP	G	TCGA-AB-3012-03A-01D-0739-09	7363872	29688596	21615970	8	2206											
CYLC1	1538	genome.wustl.edu	37	X	83128705	83128705	+	Missense_Mutation	SNP	C	C	A			TCGA-AB-3012-03A-01D-0739-09	TCGA-AB-3012-11A-01D-0739-09	C	C	C	A	C	C	Verified	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq	1		Illumina HiSeq	1ea97951-9a33-48eb-b1da-eab8566781bf	673432d1-fa29-474c-a1f2-b042f2a57cdb	g.chrX:83128705C>A	ENST00000329312.4	+	4	1026	c.989C>A	c.(988-990)aCa>aAa	p.T330K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	330					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.T329K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAGAAGGACACAGAGTCTACT	0.338																																						dbGAP											1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	X											47	42	44					X																	83128705		2197	4294	6491	83015361	SO:0001583	missense	0			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"cylicin 1"	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.989C>A	X.37:g.83128705C>A	ENSP00000331556:p.Thr330Lys	809	0.25	2					83015361	96	88.43	734	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NULL	p.T330K	ENST00000329312.4	37	c.989	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	c	9.401	1.077937	0.20227	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.29655	1.56	3.98	2.15	0.27550	.	.	.	.	.	T	0.33876	0.0878	L	0.52573	1.65	0.09310	N	1	D;D	0.54047	0.964;0.964	P;P	0.54210	0.745;0.745	T	0.11842	-1.0571	9	0.29301	T	0.29	-0.1241	3.8955	0.09138	0.2364:0.6355:0.0:0.1281	.	330;330	P35663;F5H4V5	CYLC1_HUMAN;.	K	330	ENSP00000331556:T330K	ENSP00000331556:T330K	T	+	2	0	CYLC1	83015361	0.006000	0.16342	0.002000	0.10522	0.953000	0.61014	0.093000	0.15086	0.437000	0.26423	0.436000	0.28706	ACA	-	NULL		0.338	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	protein_coding	OTTHUMT00000057371.1	C	NM_021118		83015361	1	no_errors	NM_021118.1	genbank	human	provisional	54_36p	missense	SNP	0.027	A	A	83128705	C	A	83128705	3	1	193	1	0	0	0	0	1	0	0	0	4141	478	17	4	1003	4	CYLC1	23	83128705	Missense_Mutation	SNP	C	TCGA-AB-3012-03A-01D-0739-09		83128705	72141855	9	2207											
